handbook of genetics and society
An authoritative handbook which offers a discussion of the social, political, ethical ...
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handbook of genetics and society
An authoritative handbook which offers a discussion of the social, political, ethical and economic consequences and implications of the new biosciences. The Handbook takes an interdisciplinary approach, providing a synoptic overview of contemporary international social science research on genetics, genomics and the new life sciences. It brings together leading scholars with expertise across a wide-ranging spectrum of research fields related to the production, use, commercialisation and regulation of genetics knowledge. The Handbook is structured into seven cross-cutting themes in contemporary social science research on genetics, with introductions written by internationally renowned section editors who take an interdisciplinary approach to offer fresh insights on recent developments and issues in often controversial fields of study. It explores local and global issues and critically approaches a wide range of public and policy questions, providing an invaluable reference source to a wide variety of researchers, academics and policy makers. Paul Atkinson is Distinguished Research Professor in Sociology at Cardiff University. He has published extensively on the sociology of medical knowledge and qualitative research methods. He is co-editor of Qualitative Research, and is an Academician of the Academy of Social Sciences. Peter Glasner is Professorial Fellow in the ESRC Centre for Economic and Social Aspects of Genomics (Cesagen) at Cardiff University. He is co-editor of the journals New Genetics and Society and 21st Century Society. He has a longstanding research interest in genetics, innovation and science policy. He is an Academician of the Academy of Social Sciences. Margaret Lock is Marjorie Bronfman Professor Emerita at McGill University, Montreal. She is the author and editor of 14 books, including the award-winning Twice Dead: Organ Transplants and the Reinvention of Death. Her current research project is on molecular genetics and the social ramifications of testing for susceptibility genes. She is a Fellow of the Royal Society of Canada. International Editorial Consultans: Herbert Gottweis, Department of Political Science, University of Vienna; Sheila Jasanoff, Kennedy School of Government, Harvard University; Daryl Macer, UNESCO, Bangkok; Alan Petersen, Department of Sociology, Monash University.
Genetics and Society Series Editors: Paul Atkinson, Distinguished Research Professor of Sociology, Cardiff University; Ruth Chadwick, Director of Cesagen, Cardiff University; Peter Glasner, Professorial Research Fellow for Cesagen at Cardiff University; and Brian Wynne, Associate Director, Cesagen, Lancaster University
The books in this series, all based on original research, explore the social, economic and ethical consequences of the new genetic sciences. The series is based in the ESRC’s Centre for Economic and Social Aspects of Genomics, the largest UK investment in social-science research on the implications of these innovations. With a mix of research monographs, edited collections, textbooks and a major new handbook, the series will be a major contribution to the social analysis of new agricultural and biomedical technologies. Series titles include: Governing the Transatlantic Conflict over Agricultural Biotechnology: Contending Coalitions, Trade Liberalisation and Standard Setting Joseph Murphy and Les Levidow New Genetics, New Social Formations Peter Glasner, Paul Atkinson and Helen Greenslade New Genetics, New Identities Paul Atkinson, Peter Glasner and Helen Greenslade The GM Debate: Risk, Politics and Public Engagement Tom Horlick-Jones, John Walls, Gene Rowe, Nick Pidgeon, Wouter Poortinga, Graham Murdock and Tim O’Riordan Growth Cultures: Life Sciences and Economic Development Philip Cooke Human Cloning in the Media Joan Haran, Jenny Kitzinger, Maureen McNeil and Kate O’Riordan Local Cells, Global Science: Embryonic Stem Cell Research in India Aditya Bharadwaj and Peter Glasner Handbook of Genetics and Society Paul Atkinson, Peter Glasner and Margaret Lock
The Human Genome Chamundeeswari Kuppuswamy Debating Human Genetics: Contemporary Issues in Public Policy and Ethics Alexandra Plows Community Genetics and Genetic Alliances: Eugenics, Carrier Testing, and Networks of Risk Aviad Raz Genetic Testing: Accounts of Autonomy, Responsibility and Blame Michael Arribas-Ayllon, Srikant Sarangi and Angus Clarke Scientific, Clinical and Commercial Development of the Stem Cell: From Radiobiology to Regenerative Medicine Alison Kraft Genetically Modified Food on Trial: Opening Up Alternative Futures of Euro-Agriculture Les Levidow The Making of a Syndrome: The Case of Rett Syndrome Katie Featherstone and Paul Atkinson Barcoding Nature Claire Waterton, Rebecca Ellis and Brian Wynne Gender and Genetics - Towards a Sociological Account of Prenatal Screening Kate Reed Neurogenetic Diagnoses, the Power of Hope and the Limits of Today’s Medicine Carole Browner and H. Mabel Preloran
handbook of genetics and society mapping the new genomic era
Edited by Paul Atkinson, Peter Glasner and Margaret Lock
First published 2009 by Routledge 2 Park Square, Milton Park, Abingdon, Oxon, OX14 4RN Simultaneously published in the USA and Canada by Routledge 270 Madison Avenue, New York, NY 10016 Routledge is an imprint of the Taylor & Francis Group, an informa business
This edition published in the Taylor & Francis e-Library, 2009. To purchase your own copy of this or any of Taylor & Francis or Routledge’s collection of thousands of eBooks please go to www.eBookstore.tandf.co.uk. © 2009 Paul Atkinson, Peter Glasner & Margaret Lock for selection and editorial material All rights reserved. No part of this book may be reprinted or reproduced or utilised in any form or by any electronic, mechanical, or other means, now known or hereafter invented, including photocopying and recording, or in any information storage or retrieval system, without permission in writing from the publishers. British Library Cataloguing in Publication Data A catalogue record for this book is available from the British Library Library of Congress Cataloging in Publication Data The Handbook of Genetics and Society: Mapping the New Genomic Era / [edited by] Paul Atkinson, Peter Glasner and Margaret Lock. p. cm. 1. Genetics – Social aspects. 2. Genomics – Social aspects. 3. Life sciences – Social aspects. 4. Medical technology – Social aspects. I. Atkinson, Paul, 1947– II. Glasner, Peter E. III. Lock, Margaret M. QH438.7.H36 2009 303.48’3 – dc22 2008049337
ISBN 0-203-92738-9 Master e-book ISBN ISBN-10: 0-415-41080-0 (hbk) ISBN-10: 0-203-92738-9 (ebk) ISBN-13: 978-0-415-41080-9 (hbk) ISBN-13: 978-0-203-92738-0 (ebk)
Contents
List of illustrations Notes on contributors Acknowledgements 1
Genetics and society: perspectives from the twenty-first century Paul Atkinson, Peter Glasner and Margaret Lock
xi xiii xxvi 1
Section One Biomedical applications of new genetic technologies
15
2
Introduction Susan E. Kelly
17
3
Biomedicalising genetic health, diseases and identities Adele E. Clarke, Janet K. Shim, Sara Shostak and Alondra Nelson
21
4
Stem cells, translational research and the sociology of science Steven P. Wainwright, Clare Williams, Mike Michael and Alan Cribb
41
5
Reproductive genetics: from choice to ambivalence and back again Anne Kerr
59
6
Localising genetic testing and screening in Cyprus and Germany: contingencies, continuities, ordering effects and bio-cultural intimacy Stefan Beck and Jörg Niewöhner
7
Nutrigenomics Ruth Chadwick
76
94
vii
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Section Two Commercialisation
105
8
Introduction: genomes and markets Paul Atkinson
107
9
Making Europe unsafe for agbiotech Les Levidow
110
10 Genetic information and insurance underwriting: contemporary issues and approaches in the global economy Mark A. Rothstein and Yann Joly
127
11 On a critical path: genomics, the crisis of pharmaceutical productivity and the search for sustainability Paul Martin, Michael Hopkins, Paul Nightingale and Alison Kraft
145
12 States, markets and networks in bioeconomy knowledge value chains Philip Cooke
163
Section Three Representations of genomics
181
13 Introduction Maureen McNeil
183
14 Stakeholder representations in genomics Edna Einsiedel
187
15 Human genetics and cloning in the media: mapping the research field Joan Haran and Jenny Kitzinger
203
16 Cultural imaginaries and laboratories of the real: representing the genetic sciences Suzanne Anker
222
17 Genes in our knot Mike Fortun Section Four Regulation 18 Introduction: expressing the gene: the discursive and institutional regulation of genetics Andrew Webster viii
247
261
263
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19 Law and regulation Sheila McLean
267
20 Forensic DNA databases and biolegality: the co-production of law, surveillance technology and suspect bodies 283 Michael Lynch and Ruth McNally 21 Biobanks and the challenges of governance, legitimacy and benefit Oonagh Corrigan and Richard Tutton Section Five Bioethics and genetics
302
319
22 Introduction Ruth Chadwick
321
23 Rethinking privacy in the genetic age David Weisbrot
324
24 Bioethics and human genetic engineering John H. Evans and Cynthia E. Schairer
349
25 Towards a bioethics of disability and impairment Jackie Leach Scully
367
26 Ethical perspectives on animal biotechnology Mickey Gjerris, Anna Olsson, Jesper Lassen and Peter Sandøe
382
Section Six Diversity and justice
399
27 Introduction Barbara Katz Rothman
401
28 Religion and nationhood: collective identities and the New Genetics Barbara Prainsack and Yael Hashiloni-Dolev
404
29 Extravagance, or the good and the bad of genetic diversity Amade M’charek
422
30 Eugenics Lene Koch
437
31 Human dignity and biotechnology policy Ubaka Ogbogu and Timothy Caulfield
448
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Section Seven New forms of knowledge production
463
32 Introduction Alberto Cambrosio
465
33 Centralising labels to distribute data: the regulatory role of genomic consortia Sabina Leonelli
469
34 Innovative genetic technologies, governance and social accountability Andrew Webster
486
35 Genomic platforms and hybrid formations Alberto Cambrosio, Peter Keating, Pascal Bourret, Philipe Mustar and Susan Rogers
502
Index
x
521
Illustrations
Figures 4.1 4.2 11.1 11.2 11.3 12.1 12.2 12.3 12.4 24.1
From bench to bedside: towards a social model of translational research? Boundary work, boundary crossings and the lab–clinic interface The growth in firms working on target identification and validation Formation of collaborations in target identification and validation (1990–2000) Number of families containing patent filings on DNA sequences by filing year The digital signal processing knowledge network, DSP Valley The knowledge value chain in the healthcare and medical bioscience value chain Bioscience co-publishing 1998–2004 among star scientists in leading research institutes in high impact US journals Global co-patenting among biotechnology research institutes and biotechnology firms 1998–2004 Distinctions in cell alteration therapy
44 51 148 149 150 168 169 173 174
Tables 10.1 11.1 11.2 11.3
Comparative table: genetics and insurance The founding and focus of the first generation genomics firms Top 20 holders of DNA patents granted in the USA Pharmaceutical company investment in genomics: summary of applications, opportunities, challenges and trends 12.1 Top ten National Institutes of Health-funded research institutions, 2000–3 12.2 High- and low-ranking UK university–industry co-publishing sectors, 1995–2000
139 147 152 154 166 170 xi
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12.3 12.4 12.5 12.6 15.1 21.1 24.1
Scaling for proximity by UK genomics biotechnology firms Economic geography of R&D collaborators of UK ICT firms 2003 National Institutes of Health R&D expenditure in Massachusetts Percentage of US industrial R&D by size of enterprise Policy drivers – approaches to media and human genetics Varieties of biobanks and their scientific and institutional settings Distinctions in cell alteration theraphy
175 175 177 177 205 304 353
Boxes 20.1 The National DNA Database (NDNAD)
xii
285
Contributors
Editors Paul Atkinson is Distinguished Research Professor in Sociology at the School of Social Sciences Cardiff University and has published extensively on the sociology of medical knowledge and qualitative research methods. He is co-editor of the journal Qualitative Research and is an Academician of the Academy of Social Sciences. Peter Glasner is Professorial Fellow in the Economic and Social Research Council’s Centre for Economic and Social Aspects of Genomics at Cardiff University. He is co-editor of the journals New Genetics and Society and 21st Century Society. He has a longstanding research interest in genetics, innovation and science policy. He is an Academician of the Academy of Social Sciences. Margaret Lock is Marjorie Bronfman Professor Emerita and is affiliated with the Department of Social Studies of Medicine and the Department of Anthropology at McGill University. She is a Fellow of the Royal Society of Canada and an Officier de L’Ordre national du Québec. Lock was awarded the Prix du Québec domaine Sciences Humaines in 1997 and in the same year the Wellcome Medal of the Royal Anthropological Society of Great Britain. In 2002 she received the Canada Council for the Arts Molson Prize and in 2005 the Canada Council for the Arts Killam Prize as well as a Trudeau Foundation Fellowship. In 2007 she was awarded the Gold Medal for Research from the Social Sciences and Humanities Research Council of Canada (SSHRC). She is the author and/or co-editor of 14 books and has published over 190 articles. Her monographs Encounters with Aging: Mythologies of Menopause in Japan and North America and Twice Dead: Organ Transplants and the Reinvention of Death have both won several awards. She is currently working on two books. One is in connection with the genetics of Alzheimer’s disease and the social ramifications of testing for susceptibility genes. The second, co-authored, book documents the global circulation of biomedical technologies and their impacts at local sites. xiii
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Contributors Suzanne Anker is an artist and theorist working at the intersection of visual art and the life sciences. Her work has been shown at the Walker Art Centre, the Smithsonian Institute, the Phillips Collection, P.S.1 Museum, the J.P. Getty Museum and the Museum of Modern Art in Japan. Her writings have appeared in Art Journal, Tema Celeste, M/E/A/N/I/N/G, Leonardo, Art in America and Seed magazines. In addition she is the co-author of The Molecular Gaze: Art in the Genetic Age. Her recent book, Visual Culture and Bioscience, will be published in 2008 by the Center for Art, Design and Visual Culture in collaboration with the National Academy of Sciences. She has been a visiting speaker at the Hamburger Bahnhof in Berlin, the Max Plank Institute in Dresden, the University of Cambridge and Shanghai University in China. Her radio programme The Bio-Blurb Show on www.ps1.org is hosted by P.S.1 and MoMA in New York City. She is the recipient of many honours and awards, including a recent fellowship at the Zentrum für Literatur- und Kulturforschung in Berlin, Germany. She teaches art history, theory and studio practice at the School of Visual Arts where she is also Chair of the Fine Arts department. Stefan Beck is Professor for European Ethnology at Humboldt University Berlin, Germany. He has conducted fieldwork in Cyprus and Germany focusing on genetic screenings, organ donation and the social history of public health programmes. His work concentrates on knowledge practices in biomedicine, their social and cultural implementation, and their impact on notions of health, body and shifting configurations of solidarity and moral practices. He is currently directing a comparative research project on assisted kinship in Turkey and Germany, and a research project focusing on emerging interconnections of genomics research in medicine and nutrition. With colleagues he founded the Collaboratory: Social Anthropology and Life Sciences at Humboldt University at Berlin (www.csal.de) in 2004 as a platform for interdisciplinary research and teaching at the crossroads of medicine and sociocultural anthropology. Pascale Bourret is Associate Professor at Université de la Méditerranée (Aix-Marseille) where she teaches sociology. She is also a researcher at the INSERM-IRD-Université de la Méditerranée UMR 912 research unit (Economic and Social Sciences, Health Systems and Societies). Her work focuses on the transformation of biomedical practices and, in particular, of clinical work in relation to the production of clinical judgement and decision-making. Her most recent papers discuss the central role played by hybrid ‘bio-clinical’ collectives in the emergence and performance of genetic practices in the cancer domain. She is presently investigating the development and adoption of genomic tools in clinical work on breast cancer. Alberto Cambrosio is Professor of Social Studies of Medicine and of Sociology at McGill University. His area of expertise lies at the crossroads of medical sociology and the sociology of science and technology. His work centres on biomedical practices and innovation, in particular at the clinical–laboratory interface, with a focus on the application of modern biological techniques to the diagnosis and the therapy of cancer, the development of cancer clinical trials as a new style of practice, and the role xiv
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of visual imagery in the development of immunology. His book Biomedical Platforms, co-authored with Peter Keating, analyses the transformation of medicine into biomedicine as embodied in the recasting of hospital architecture and the respecification of diagnostic, nosological and therapeutic practices. The book has been awarded the 2005 Ludwik Fleck Prize by the Society for Social Studies of Science (4S). Timothy Caulfield has been Research Director of the Health Law Institute at the University of Alberta since 1993. In 2002, he received a Canada Research Chair in Health Law and Policy. He is also a Professor in the Faculty of Law and the School of Public Health. His research has focused on two general areas: biotechnology, ethics and the law; and the legal implications of health care reform in Canada. He has published well over 125 academic articles and book chapters and often writes for the popular press. He is a Senior Health Scholar with the Alberta Heritage Foundation for Medical Research, in 2006 became a member of the Canadian Academy of Health Sciences and was recently appointed to the Royal Society of Canada. He chairs and serves on numerous other research policy and ethics committees, is an editor of the Health Law Journal and the Health Law Review, teaches biotechnology law in the Faculty of Law, and provides health law lectures for other faculties. Ruth Chadwick is Distinguished Research Professor at Cardiff University and director of Cesagen. She held positions in Liverpool, Cardiff, Preston and Lancaster before joining the university in 2006. She co-ordinated the Euroscreen projects (1994–6; 1996–9) funded by the European Commission. She co-edits the journal Bioethics, and is editor of the online journal Genomics, Society and Policy. She has published 16 books as author or editor, including the award-winning Encyclopedia of Applied Ethics (1998). She is Chair of the Human Genome Organisation (HUGO) Ethics Committee, Fellow of the Hastings Center, New York, and is an Academician of the Academy of Social Sciences. She is a member of the Food Ethics Council, the Advisory Committee on Novel Foods and Processes (ACNFP), the Standing Committee on Ethics of the Canadian Institutes of Health Research, and the Medical Research Council Advisory Steering Committee on DNA Banking. Adele E. Clarke PhD is Professor of Sociology and History of Health Sciences at University of California San Francisco. Her research has centred on studies of science, technology and medicine with an emphasis on common women’s medical technologies such as contraception. Her books include Disciplining Reproduction: Modernity, American Life Sciences and the ‘Problems of Sex’ (1998), Situational Analysis: Grounded Theory after the Postmodern Turn (2005) and co-edited volumes Biomedicalization: Technoscience and Transformations of Health and Illness in the US (2009), Revisioning Women, Health and Healing (1999) and The Right Tools for the Job: At Work in Twentieth Century Life Sciences (1992). Her next project examines popular and social science discourses on population and contraception since 2000. Philip Cooke is University Research Professor in Regional Economic Development, and founding director (1993) of the Centre for Advanced Studies, Cardiff University. His research interests lie in studies of biotechnology, regional innovation systems, knowledge economies, entrepreneurship, clusters and networks. He is a UK government advisor on innovation, and advises national and regional governments, the EU, xv
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OECD, World Bank and UNIDO on regional innovation systems. In 2003 he was elected Academician of the Academy of Social Sciences. In 2004 he was made Distinguished Research Fellow (PRIME) of the University of Ottawa School of Management. He is board member of the Canadian ISRN and Swedish CIND and CIRCLE research centres. In 2006 he was awarded an honorary PhD by the University of Lund, Sweden, and in 2007 became a member of the European Research Area (ERA) Review Committee of the European Commission and the Royal Society Task Force on Nanotechnology. Oonagh Corrigan is Senior Lecturer in Clinical Education Research at Peninsula College of Medicine and Dentistry, University of Plymouth. She is a medical sociologist with an interest in bioethics of medicine, health policy and medical education, and has considerable research experience in issues related to informed consent, in particular as it relates to patient and healthy volunteer participation in clinical drug trials and research involving DNA collections. Her most recent publication is a coedited book, The Limits of Consent: A Socio-ethical Approach to Human Subject Research in Medicine (2009). Alan Cribb is Professor of Bioethics and Education at King’s College London, University of London. His research relates to applied philosophy and health policy, and he has a particular interest in developing interdisciplinary scholarship that links philosophical, social science and professional concerns. His current research is examining pharmacy ethics and virtues in medical education. He is the former editor of Health Care Analysis: An International Journal of Health Care Philosophy and Policy. Edna Einsiedel is Professor of Communication Studies and Culture at the University of Calgary, Canada. Her research involves social issues around emerging controversial technologies including biotechnology, genomics, and nanobiotechnology applications. She has an interest in public participation on technological issues, social studies of technology, risk communications, health communications and international development studies. She is co-editor (with Frank Timmermans) of Crossing Over: Genomics in the Public Arena (2005). John H. Evans is Associate Professor of Sociology at the University of California, San Diego. He is the author of Playing God? Human Genetic Engineering and the Rationalization of Public Bioethical Debate (2002) and co-editor (with Robert Wuthnow) of The Quiet Hand of God: Faith-based Activism and the Public Role of Mainline Protestantism (2002). He is completing a book tentatively titled ‘The Religious Citizen and Reproductive Genetics: Avoiding Abortion and the Culture Wars?’ He has also published a number of articles on opinion polarisation in the US over abortion, homosexuality and related issues. His research focuses on the sociology of religion, culture, knowledge, science and, in particular, bioethics. Mike Fortun is an Associate Professor in the Department of Science and Technology Studies at Rensselaer Polytechnic Institute, Troy, New York. He is co-editor (with Kim Fortun) of Cultural Anthropology, the journal of the Society for Cultural Anthropology of the American Anthropological Association. A historian of the life sciences, his current research focuses on the contemporary science, culture and political economy xvi
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of genomics. His work in the life sciences has covered the policy, scientific and social history of the Human Genome Project in the US, the history of biotechnology, and the growth of commercial genomics and bio-informatics in the speculative economies of the 1990s. His most recent work is Promising Genomics: Iceland and deCODE Genetics in a World of Speculation (2008), an ethnographic account of deCODE Genetics in Iceland. His other recent ethnographic work on toxicogenomics, and on the use of race variables in genetics research on complex conditions (nicotine use and asthma), is based in ongoing involvement with ‘transdisciplinary’ groups of geneticists, physicians, historians, legal and policy scholars and anthropologists centred at the Institute for Health Care Research at Georgetown University and the Institute for Health Policy at Harvard University. Mickey Gjerris is Associate Professor in Bioethics at the Faculty of Life Science, University of Copenhagen. He holds a Master’s in Theology and a PhD in Bioethics from the University of Copenhagen. His research interests fall within the field of ethics, specifically bioethics and ethics of nature. His research covers ethical aspects of biotechnology applied to non-human living organisms, the ethical aspects of the nanotechnological development, and more basic philosophical questions such as the concepts of welfare and integrity and the role of ethics in the societal dialogue around new technologies. He works within a hermeneutical–phenomenological framework and has a longstanding interest in looking at the interplay of philosophical and religious thinking in ethics. Joan Haran is a Research Fellow at the ESRC Centre for Economic and Social Aspects of Genomics (Cesagen) at Cardiff University. Her research training is in cultural studies and gender studies. Her key area of research focus is gender, technoscience and representation, which she explores through a variety of media and cultural texts and practices, including science fiction. She is co-author of Human Cloning in the Media: From Science Fiction to Science Practice, with Jenny Kitzinger, Maureen McNeil and Kate O’Riordan. She is currently working on the mediation of governance and regulation in the field of embryonic stem cell research. Yael Hashiloni-Dolev is Senior Lecturer at the School of Government and Society at the Academic College of Tel-Aviv-Yaffo in Israel. She is the author of A Life (Un) Worthy of Living: Reproductive Genetics in Israel and Germany (2007). Her research interest lies in the intersection between science and society, and more specifically in comparative studies of new reproductive technologies and genetics. Michael Hopkins is a Research Fellow at the University of Sussex. He is a biologist with subsequent degrees in technology and innovation management, and science and technology policy. His research and teaching interests centre on the dynamics of innovation in networks of organisations and the evolution of technology within these networks, particularly in biotechnology and medical innovation (e.g. the evolution of genetic testing services in hospital-centred networks). Yann Joly is a lawyer, and is Research Associate and Project Manager at the Centre de recherche en droit public of the Université de Montréal. His research activities focus on the field of biotechnology, international law and bioethics. Yann is currently xvii
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completing a doctorate in civil law at the McGill University Faculty of Law. His thesis project addresses the use of open models of collaboration in the field of biotechnology. He is currently a member of the ethics advisory committee of Genizon BioSciences and the North American coordinator of the Association for Research and Formation in Medical Law. Since the autumn of 2007, Yann has been a panellist on the major assessment on the return on investments in health research of the Canadian Academy of Health Sciences. Peter Keating is Professor of History at the Université du Québec à Montréal, where he teaches the history of science and medicine and the social studies of science. His area of expertise combines the history of medicine, and the sociology of science and technology. His book Biomedical Platforms, co-authored with Alberto Cambrosio, analyses the transformation of medicine into biomedicine as instantiated in the rise of immunophenotyping. The book has been awarded the 2005 Ludwik Fleck Prize by the Society for Social Studies of Science (4S). Susan E. Kelly is a Senior Research Fellow at the ESRC Centre for Genomics and Society (Egenis) at the University of Exeter. Her current research interests are in translational activities and contexts of non-invasive prenatal diagnosis, and maternal–foetal microchimerism science, in which she is concerned with the production of biological ontologies, identities and ‘disruptive’ technoscience. She has also studied decisionmaking, intervention discourses and experiences of impairment among parents of children with genetic conditions, about which she is currently writing a book. Anne Kerr is Professor of Sociology in the School of Sociology and Social Policy and Pro-Dean for Research in the Faculty of Education, Social Science and Law at the University of Leeds, UK, with specialist interests in the sociology of science, technology and medicine, especially gender, genetics and reproduction. Before coming to Leeds, Anne was a lecturer in the Department of Sociology, University of York and prior to that a research fellow at the Science Studies Unit, University of Edinburgh. Her research projects have focused upon the dynamics of expertise, including the social construction of disease, lay–professional relations and professional ethics, especially in the field of genetics. She is currently working on a range of projects on gender in science, regulation and ethics in assisted conception, contested expertise in the diagnosis of food allergy and technology and practice. Jenny Kitzinger is Professor of Media and Communication Research at Cardiff University. She specialises in research into media coverage, and audience reception, of social, health and scientific issues. She has also written extensively about sexual violence. She is co-author of Human Cloning in the Media: From Science Fiction to Science Fact (2008). Other books include Framing Abuse: Media Influence and Public Understanding of Sexual Violence against Children (2004) and Developing Focus Group Research: Politics, Theory and Practice (1999, co-editor). She is also co-author of The Mass Media and Power in Modern Britain (1997), Great Expectations (1998) and The Circuit of Mass Communication in the AIDS Crisis (1999). Lene Koch is Professor in the History of Medical Technologies at the unit of Health Services Research at the Institute of Public Health, University of Copenhagen. Her research xviii
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interests concern the history and sociology of genetic and reproductive technology with special reference to the political and ethical aspects. Her research projects have included work on eugenics, in vitro fertilisation, prenatal diagnosis, genetic testing, stem cell research and embryo donation. Current projects focus on pharmaco-genomics and human– animal relations. She has published widely; see www.pubhealth.ku.dk/stf_en/ansatte/leko/ Alison Kraft is Senior Research Fellow at the Institute for Science and Society at the University of Nottingham. A life sciences graduate and historian of biology in the late nineteenth and twentieth centuries, her research interests lie in the evolving relationship between biology and medicine, and the development and commercialisation of the biological sciences since the Second World War. Previous research has included nuclear medicine, the impact of biotechnology/genomics on pharmaceutical innovation and, more recently, the dynamics of haematopoietic stem cell (HSC)-based innovation. She is author of The Scientific, Clinical and Commercial Development of the Stem Cell (forthcoming). Jesper Lassen is Associate Professor in Sociology of Food at the Faculty of Life Science, University of Copenhagen. His research interest is primarily the interface between science, technology and society (STS) with a particular focus on public perceptions of risks associated to different agricultural production systems and technologies. His research covers empirical fields such as genetic technologies and food safety. He has, during the past two decades, had a particular interest in how society has received the new genetic technologies. Within this field his work covers empirical studies of public perceptions of GM foods, agriculture and genetically manipulated animals, as well as conflicts between lay and expert perceptions, political processes in relation to GM food – including studies of participatory processes and the role of NGOs in the political processes in relation to genetic technologies. Sabina Leonelli is a Research Fellow at the ESRC Centre for Genomics and Society (Egenis) based at the University of Exeter and a visiting fellow in the Leverhulme/ ESRC project ‘How Well Do “Facts” Travel?’ based at the London School of Economics. She was trained in the history, philosophy and social studies of science in London) and Amsterdam. Her current work focuses on the relations between regulatory and classificatory practices within biomedical science, with particular attention to the role played by bio-informatic tools for data sharing. She is also writing a monograph on the history of research on the model organism Arabidopsis thaliana. Les Levidow is Senior Research Fellow at the Open University His primary research is focused on controversial agricultural technologies, especially agbiotech and biofuel crops, as well as quality alternatives to agri-industrial systems. These topics provide case studies for several policy-relevant issues: agri-environmental sustainability, European integration, trade conflicts, governance, public participation, regulatory science and the precautionary principle. For a list of past projects, research reports and downloadable papers, see the Biotechnology Policy Group webpages at http://techno logy.open.ac.uk/cts/bpg.htm Michael Lynch is a Professor in the Department of Science and Technology Studies at Cornell University. His research is on discourse, visual representation and practical xix
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action in research laboratories, clinical settings and legal tribunals. His most recent book, Truth Machine: The Contentious History of DNA Fingerprinting (2008, co-authored with Simon Cole, Ruth McNally and Kathleen Jordan), examines the interplay between law and science in criminal cases involving DNA evidence. He is editor of the journal Social Studies of Science, and current President of the Society for Social Studies of Science (4S). Sheila McLean is the first holder of the International Bar Association Chair of Law and Ethics in Medicine at Glasgow University and is director of the Institute of Law and Ethics in Medicine at Glasgow University. She has acted as a consultant to the World Health Organisation, the Council of Europe, and a number of individual states. She has acted as an expert reviewer for many of the major grant-awarding bodies and similar organisations outwith the United Kingdom. She has published extensively in the area of medical law, is on the editorial board of a number of national and international journals and is regularly consulted by the media on matters of medical law and ethics. In 2005 she was awarded the first ever Lifetime Achievement Award by the Scottish Legal Awards. Ruth McNally is a Senior Research Fellow at ESRC Cesagen, Lancaster University. She is co-author, with Peter Wheale, of one of the earliest critical books on the new genetics, Genetic Engineering: Catastrophe or Utopia? (1988). Most recently she is coauthor, with Michael Lynch, Simon Cole and Kathleen Jordan, of Truth Machine: The Contentious History of DNA Fingerprinting (2008). She also continues to develop ‘PROTEE’, an STS ‘tool’ for managing and assessing projects and their expectations. Maureen McNeil is Professor of Women’s Studies and Cultural Studies based in the Centre for Gender and Women’s Studies and Cesagen, Lancaster University. She is also chair of the Board of the Centre for Science Studies at Lancaster University. Her recent publications include Feminist Cultural Studies of Science and Technology (2007) and, with Joan Haran, Jenny Kitzinger and Kate O’Riordan, Human Cloning and the Media: From Science Fiction to Science Practice (2007). Paul Martin is Deputy Director of the Institute for Science and Society at the University of Nottingham. His research focuses on human genetics and the sociology of emerging medical technologies, with a particular interest on the development, commercialisation, clinical use and governance of new genomic and gene-based biotechnologies. An innovative feature of his work is the study of the commercial activities of biotechnology firms in shaping the development of human genetic technologies. Previous studies have looked at innovation in pharmacogenetics, genomics and regenerative medicine, and have explored the key role of expectations of the future in shaping technical change. Amade M’charek is Associate Professor in Science and Technology Studies at the Department of Medical Anthropology of the University of Amsterdam. Her research interests are in genetic diversity and include race, sex and other differences in biomedical practices, especially laboratory and clinical practices and forensic genetics. Her current research projects focus on diversity in everyday care for patients with sickle xx
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cell disease and race in novel forensic DNA practices. She is the author of The Human Genome Diversity Project: An Ethnography of Scientific Practice (2005). Mike Michael is Professor of Sociology of Science and Technology, and Director of the Centre for the Study of Invention and Social Process, Sociology Department, Goldsmiths College, University of London. His main areas of research include public understanding of science, the relation between everyday life and science and technology, and biomedical innovation and culture. Recent publications include Technoscience and Everyday Life (2006) and (with Lynda Birke and Arnie Arluke) The Sacrifice: How Scientific Experiments Transform Animals and People (2007). Philippe Mustar is Professor of Innovation, Entrepreneurship and Public Policy at the Centre de Sociologie de l’Innovation at the École Nationale Supérieure des Mines de Paris (Mines ParisTech). He is a specialist in innovation policies and has published widely on innovation policies, academic spin-off firms and science-based entrepreneurship. He has pioneered the research on academic entrepreneurship in France and has a longstanding role of managing and coordinating large research programmes promoted by the European Commission (Sixth and Seventh Framework Programmes), the OECD, the French Ministries of Research or Industry, and various public and private institutions. He last recently co-published Academic Entrepreneurship in Europe (2007). Alondra Nelson is Assistant Professor of African American Studies, American Studies and Sociology at Yale University. Her interests are in the areas of the historical and sociocultural studies of science, technology and medicine; racial formation processes in biomedicine and technoculture; social movements; and social and cultural theory. She is co-editor of Technicolor: Race, Technology, and Everyday Life and is currently completing a book Body and Soul: The Black Panther Party and the Politics of Health and Race. Her current research examines traditional and genetic ‘root-seeking’ and the impact of these pursuits on the public understanding of science, on practices of commemoration and on conceptualisations of race, ethnicity and diaspora; this study is tentatively titled Reconciliation Projects: Slavery, Memory and the Social Uses of Genetics. Jörg Niewöhner is currently heading the Research Cluster: Preventive Self together with his colleague Stefan Beck, working specifically on questions of the entanglement of knowledge practices and lived bodies in the life sciences. He received his PhD from the School of Environmental Sciences at the University of East Anglia, UK, in 2001. After working on issues of risk communication, regulation and bioethics at the Centre for Environmental Risk, UK, and the Max Delbrueck Centre for Molecular Medicine, Berlin, Germany, he moved to the Humboldt University, Berlin, in 2004 to coordinate the Laboratory: Social Anthropology and Life Sciences. His work focuses on the intersections between science and technology studies, social anthropology and critical medical anthropology. Paul Nightingale is a Research Fellow in SPRU at the University of Sussex. He has degrees in chemistry and the management of technology, and a doctorate in technology policy, with previous experience as an industrial research chemist. His research centres around innovation in complex capital goods developed and used within firms; xxi
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the impact of complex software intensive instrumentation on pharmaceutical innovation, and the nature and use of knowledge used in innovation. Ubaka Ogbogu is a doctoral student at the Faculty of Law, University of Toronto. He is also a Research Associate with the Health Law Institute, Faculty of Law, University of Alberta, and has worked as a barrister and solicitor of the Supreme Court of Nigeria. His research interests are in the areas of legal theory, public law, and health law. He is currently working on a dissertation that explores permissible uses of state power, with particular focus on the regulation of health biotechnologies. Anna Olsson is a researcher at the Institute for Molecular and Cell Biology in Porto, Portugal, where she is head of the research group in laboratory animal science. She graduated in animal science (1994) at the Swedish University of Agricultural Sciences and holds a PhD in ethology (2001) from the same university. Her research includes both farm and laboratory animals and spans the disciplines of ethology, animal welfare and ethics. She is particularly interested in understanding the impact on animals of research and biotechnology, and the ethical considerations arising from such use of animals. Barbara Prainsack is Senior Lecturer at the Centre for Biomedicine and Society (CBAS) at King’s College London. Her research interest lies in the ways in which science, politics and ‘religion’ mutually constitute each other, and what effect they have on how we understand ourselves as human beings, bodies, persons and citizens. With Richard Hindmarsh she is currently editing DNA Profiling and Databasing: Governing the Challenges of New Technologies (forthcoming). Susan Rogers is a doctoral candidate in the Department of Sociology at McGill University in Quebec. Her research interests lie in organisational strategies and professional boundaries with regard to standards and regulation in genomic science. She is currently working under the direction of Alberto Cambrosio and is writing a dissertation on the social history of microarray standards. Barbara Katz Rothman is Professor of Sociology at the City University of New York. Her books, which have been translated into Japanese, German and Finnish, include In Labor; The Tentative Pregnancy; Recreating Motherhood, recipient of the Jesse Bernard Award of the American Sociological Association; The Book of Life, originally titled ‘Genetic Maps and Human Imaginations, Weaving a Family: Untangling Race and Adoption’; and most recently, Laboring On with co-author Wendy Simonds. She is series editor of Advances in Medical Sociology, and co-editor of the most recent volume in the series Bioethical Issues, Sociological Perspectives. Her current research, as a Robert Wood Johnson Fellow, involves revisiting issues in prenatal testing explored in The Tentative Pregnancy. Mark A. Rothstein holds the Herbert F. Boehl Chair of Law and Medicine and is the founding director of the Institute for Bioethics, Health Policy and Law at the University of Louisville School of Medicine. He received his BA from the University of Pittsburgh and his JD from Georgetown University. He has concentrated his research on bioethics, genetics, health privacy, public health law and employment law. From xxii
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1999 to 2008, he served as chair of the Subcommittee on Privacy and Confidentiality of the National Committee on Vital and Health Statistics, the statutory advisory committee to the Secretary of Health and Human Services on health information policy. He is past president of the American Society of Law, Medicine and Ethics. Professor Rothstein is the author or editor of 19 books and nearly 200 book chapters and articles in leading journals of bioethics, law, medicine and public health. Peter Sandøe is Professor in Bioethics at the Faculty of Life Sciences, University of Copenhagen and is the director of the Danish Centre for Bioethics and Risk Assessment (CeBRA), an interdisciplinary and inter-institutional research centre founded in January 2000. He was educated at the University of Copenhagen (MA in philosophy 1984) and at the University of Oxford (DPhil in philosophy 1988). Since 1990 the primary focus of his research has been within bioethics, with particular emphasis on ethical issues related to animals, biotechnology and food production. He is committed to interdisciplinary work combining perspectives from natural science, social sciences and philosophy. Together with Stine B. Christiansen, he is the author of Ethics of Animal Use (2008) and has published many articles and books covering his wide range of research interests. See www.bioethics.kvl.dk/pes/index.htm for a full list of publications. Cynthia E. Schairer is a graduate student at the University of California, San Diego. Her research interests include science, technology, disability and culture. She is currently working on her dissertation that will examine the relationships between bodies and technologies through the experiences of amputees with their prosthetic technologies. Jackie Leach Scully is Senior Lecturer in Sociology at Newcastle University. Her bioethics research focuses on moral reasoning and identity, disability, genetic and reproductive medicine, feminist bioethics, empirical methodologies and psychoanalytic theory. Her main research interest lies in the development of moral issues, frameworks and identities in the bioethical arena. She also focuses on the related research area of disability, and the role of ‘normal’ and ‘anomalous’ embodiment in social and moral life. She has recently completed a book on the influence of disabled embodiment on moral evaluation (Disability Bioethics, 2008) and a co-edited volume on ideas of good and evil within the Religious Society of Friends (Good and Evil: Quaker Perspectives, 2007), and is currently co-editing a collection on feminist bioethics (Feminist Bioethics: At the Centre, On the Margins, to be published in 2009). Janet K. Shim is Assistant Professor of Sociology in the Department of Social and Behavioral Sciences at the University of California, San Francisco. Past projects have explored epidemiological and lay accounts of the role of racial, class and gender differences in the aetiology of heart disease, and the increasing routinisation of cardiac procedures in late life in the United States. Her publications have appeared in American Sociological Review, Health, PLoS Medicine, Social Studies of Science and Sociology of Health and Illness, among others. Currently, she is engaged in a qualitative study of disciplinary theories and practices used in epidemiological research on the aetiology of complex diseases and health disparities. xxiii
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Sara Shostak is Assistant Professor of Sociology at Brandeis University. Her research centres on emerging relationships between the biosciences, medicine, subjectivity and social organisation. Her recent projects include a multi-site ethnography of genetic/ genomic disciplinary emergence in the environmental health sciences and its implications for environmental governance, a study of how scientific concepts enter into the experience of having epilepsy, and analysis of how people use genetic attributions in explaining inequalities in individual health and social outcomes. She is an associate editor of a forthcoming special issue of the American Journal of Sociology, entitled ‘Genetics and Social Structure’. Her research has been supported by the National Science Foundation, the Robert Wood Johnson Foundation and the Epilepsy Foundation, among others. Richard Tutton is Senior Lecturer at the ESRC Centre for Economic and Social Aspects of Genomics (Cesagen) at Lancaster University. Richard works at the intersections of the social studies of science and medical sociology, and has interests in the social and ethical issues of banking human tissue for genomics and biomedical research and the implications of contemporary life sciences for identity and citizenship. Richard has published work in these areas in sociological and science studies journals and co-edited a book, Genetic Databases: The Socio-Ethical Issues in the Collection and Use of DNA (2004). Steven P. Wainwright is Professor of Sociology of Medicine, Science and the Arts, and co-director of the Centre for Biomedicine and Society (CBAS), King’s College London. His research focuses on two areas: the connections between medical sociology and science studies (especially new medical technologies), and the sociology of the arts (particularly the notion of embodied vulnerability in classical ballet, opera and Romantic painting). He is an editor of Sociology of Health and Illness. Andrew Webster is Director of the Science and Technology Studies Unit (SATSU), and head of department of Sociology at the University of York. SATSU undertakes research on the social and cultural implications of science and technology, and has considerable experience of working across disciplines. Professor Webster is member of various national boards and committees (including the DoH Advisory Group on Genetics Research and the UK Stem Cell Bank Steering Committee) and was specialist advisor to the House of Commons Health Select Committee. He is now national co-ordinator of the ESRC’s Stem Cells Initiative (2005–9). His research interests are in the areas of the sociology of science and technology, science policy studies, innovative health technologies and their use, especially regenerative medicine, the sociology of innovation, the commercialisation of research, and technology foresight. He is co-editor of the Health Technology and Society series with Palgrave Macmillan. David Weisbrot is President of the Australian Law Reform Commission, where he has chaired inquiries into the protection of human genetic information (the Essentially Yours report) and gene patenting and human health (Genes and Ingenuity). He is an Emeritus Professor of Law of the University of Sydney, a Foundation Fellow of the Australian Academy of Law, a member of the Human Genetics Advisory Committee of the National Health and Medical Research Council, and an Honorary Professor in the Institute for Molecular Bioscience at the University of Queensland. In 2006, he xxiv
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was made a Member of the Order of Australia for services to law reform, education and access to justice. He has particular research interests in genetic privacy and discrimination; the ethical oversight of human genetic research; the regulation of clinical genetic testing; the ethical uses of genetic testing and information in sport; and the governance of human genetic research databases (biobanks). Clare Williams is Professor of Social Science of Biomedicine and Director of the Centre for Biomedicine and Society (CBAS), King’s College London. Her research focuses on the clinical, ethical and social implications of innovative health technologies, particularly from the perspective of health care practitioners and scientists. She is on the editorial board of Clinical Ethics and is an editor of Sociology of Health and Illness.
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Acknowledgements
This Handbook was produced under the aegis of the United Kingdom’s Economic and Social Research Council (ESRC) funded Genomics Network at the Centre for Economic and Social Aspects of Genomics (Cesagen) in Cardiff and Lancaster Universities. The support of the ESRC is gratefully acknowledged especially for research reported in Chapters 7, 12, 15, 20 and 21. The editors would particularly like to thank Helen Greenslade at the Centre for her unstinting hard work and professional editorial support. At Routledge we would like to thank our editor Gerhard Boomgaarden and his colleagues for their advice, help and assistance. We would also like to thank the many of our colleagues around the world, too numerous to mention by name, who contributed in a variety of ways to ensure the completion of this book. In particular, we sincerely and wholeheartedly thank our section editors and all contributors for giving the time in their busy schedules to become involved in this project. Our thanks also go to our international editorial consultants Herbert Gottweis, Sheila Jasanoff, Daryl Macer and Alan Petersen for their continuing support and encouragement. We, of course, accept the final responsibility for the result. Paul Atkinson Peter Glasner Margaret Lock Cardiff and Montreal, October 2008
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1 Genetics and society Perspectives from the twenty-first century Paul Atkinson, Peter Glasner and Margaret Lock
At the beginning of the twentieth century eyebrows would have been raised at the linking of the terms ‘genetics’ and ‘society’ for a number of reasons. Both were still very much in their conceptual infancy and clearly related to inimical discourses, on the one hand of nature and science, and on the other of people and governance. The last 100 years have seen a conflation of these to the extent that, some would argue, they are now constituted and co-constructed in such complex and multidimensional ways that their linkage has become both accepted and commonplace. Genetics has come to stand as a marker for the life sciences more broadly understood: the gene is now a cultural icon. The language of DNA associated with it has entered, perhaps relatively unreflectively, into common parlance, and the message – that we now understand heredity and its implications – can be found everywhere. As an article in Nature so clearly put it, ‘gene’ is not a typical four-letter word, it is neither offensive nor bleeped out of TV shows (Pearson 2006: 399). In this introduction we explore some of the ramifications of this apparent progress through the lens of contemporary social science research, of which this volume is itself an exemplar. We do so, however, in the clear recognition that our input also forms a part of how genetics and society is being constituted. The study of genetics is a ‘broad scientific terrain, which also carries, as invisible baggage, a presumed history of awkward politics and ambivalent social connections’ (Redclift and Gibbon 2006: 1) New genetic technologies and their applications in biomedicine have important implications for social identities in contemporary societies. The new genetics in medicine is increasingly important for the identification of health and disease, the imputation of personal and familial risk, and the moral status of people identified as having genetic susceptibility for inherited conditions. There are consequent transformations in national and ethnic collective identity. The body and its investigation is also potentially transformed by the possibilities of genetic investigations and modifications. These transformations include the highly controversial terrains of reproductive technologies and the use of human embryos in biomedical research (Atkinson et al. 2007). Social science research has also identified a new research system, often labelled the ‘new genetics’, viewing the gene as a mobile commodity. 1
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[T]he life science industry, as it has become known (and this includes the pharmaceutical, agribusiness, cosmetic and health sectors) began [in the 1970s and 1980s] to create new proprietary products from existing samples of human, plant, animal, fungal and microbial material, by extracting and recombining their genetic components in unprecedented ways. These tissue samples and genetic material and information that can be extracted from them, have also been used to create sophisticated research ‘tools’ that have become central to the practice of molecular science. To meet this need a host of new engineered ‘artefacts’ – cell lines, cryogetically stored tissue samples and sequenced DNA to name but a few – have been created from collected biological materials, and they too are now also traded internationally as part of the new global resource economy in genetic resources and information’. (Parry 2006: 20) Brown and Michael (2004: 208) suggest that related genetic technologies such as pharmacogenomics, tissue engineering and stem cells also challenge the boundaries of existing institutional corporealities and identities. Tissues and genes are potentially fragmented from conventionally understood species boundaries by new innovations in genomic technologies (Waldby 2002). The products of the innovation process then combine human actors, natural phenomena and socio-technical production in a variety of relatively unstable (in the sense of being continually co-constructed) hybrid social formations (Brown and Webster 2004). Such co-constructions need to be stabilised (albeit only for a short time) if they are to effectively mobilise actors to create novel institutions in the process of innovation. They appear in a variety of contexts including public engagement, (for example, citizens’ juries, science courts), techno-scientific economies including intellectual property rights and biopiracy, socio-technical platforms (for example bioinformatics), and social representations such as accounts of ‘breakthrough science’ (Glasner et al. 2007) These multiple bio-economies and forms of governance are ones of promise and expectation, and these essentially imaginative, future-oriented, non-material dimensions not only of scientific knowledge but also of its ‘uses’, and politics, are in urgent need of clarification. They beg the question: are we now leaving the ‘new genetics’ behind and entering a ‘post-genomic’ era? One significant marker of this possible transformation lies with the scientists who debate what we mean by using the term ‘gene’. The widespread perception embraced by many stakeholders including social scientists has been that the gene is a ‘tightly defined entity that spells out an inescapable destiny filled with beauty and health or, more often, blemishes and disease’ (Nature 2006: 393). At first glance these scientists seem far removed from the sites likely to be of primary interest for social scientists, such as health care or agriculture. However, their concerns stem precisely from the limitations that the mapping and sequencing of human and other genomes have highlighted in pursuing their goals in just such areas of interest. At the turn of the twentieth century, the gene was still an abstract concept which gained a corporeal existence through advances in biochemistry and molecular biology, until Watson and Crick gave it life through the representation as a double helix. Genes, as the central dogma would have it, were thought to be expressed through proteins, aided by passive messenger RNA. What was needed was to link a disease with its underlying gene, and all would become clear. The 98 per cent of genes which failed to conform to this central dogma were jettisoned as ‘junk’. 2
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This central dogma has been under fire for some time, initially through the study of viruses which suggested that alternative splicing allowed some DNA sequences to describe more than one protein. However, after the completed Human Genome Project (HGP) discovered that humans have fewer genes than puffer fish, it has become increasingly obvious that RNA plays a much more complicated and significant role, finally making redundant the ‘one gene equals one protein’ model. RNA, it is now thought, may be largely responsible for explaining the differences between humans and between humans and other species. The clear demarcation between one gene and another has been questioned. Where once scientists saw placid, lonely genes that mass produce RNA transcripts, they now find a chaotic jumble of RNA generated from all over the genome and from outside conventional genes. They have little clue what this RNA is doing, and don’t always know where one gene ends and the next begins. (Nature 2006: 384) The role of RNA as a carrier of information across generations is now also aiding the study of extra-genetic inheritance or epigenesis. Molecular biology is no longer confined to simply mapping and sequencing, but has become concerned with studying how the mechanisms of cells and even organs function through time (Moss 2003; Pearson 2006). While this is of little interest to population geneticists, for whom the precise nature of the underlying molecular mechanisms in trait inheritance does not affect their models, it does effect those concerned with research on inherited predispositions to disease. However, such professionals appear often to operate with relatively narrow and circumscribed definitions of the gene (Lock 2005), though they are likely to already be aware of the ‘multifactorial, contingent and highly variable nature of disease manifestations’ (Fullerton 2005: S62). For example, after ‘almost two years of intense discussions with hundreds of scientists and members of the public’, Francis Collins and colleagues, writing on behalf of the US National Human Genome Research Institute (NHGRI), presented ‘A vision for the future of genomics research’ in 2003 (Collins et al. 2003). They did not speak of ‘postgenomics’, or post-anything else for that matter. For them, the revolution in the biological sciences is genomics itself. The (Genome) project’s new research strategies and experimental technologies have generated a steady stream of ever-larger and more complex genomic data sets that have poured into public databases and have transformed the study of virtually all life processes. The genomic approach of technology development and large-scale generation of community resource data sets has introduced an important new dimension into biological and biomedical research…In short, genomics has become a central and cohesive discipline of biomedical research. (Collins et al. 2003: 835, emphasis added) Here, genomics is nothing less than a ‘discipline’, which is not only central to genome research, but whose effects transcend the genome into ‘the study of virtually all life processes’. The central feature of this pervasive discipline is the ‘large-scale generation of…data sets’, through the ‘new research strategies and experimental technologies’ of the genome project. They characterise the genomic approach to technology development as 3
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the scaling-up, automation and miniaturisation of processes for sequencing, marking, cloning and classifying DNA sequences. In their vision of the future, Collins and his colleagues see the HGP as just the first step. They illustrate the future by means of a diagram of a building where the centrality of genomics in their vision of the future is clear. Rising up from the foundations of the HGP, genomics provides each of the building’s three floors. For Collins et al., the revolution in the biological sciences is a genomic revolution, and the HGP is not just the foundation for the genomic era but an exemplar of how it is to continue. The defining feature of this paradigm is that it uses the genomic approach (scale-up, automation, miniaturisation) to technology development and the large-scale generation of community resource data sets. In other words, the revolution described by Collins et al. is methodological rather than theoretical. While knowledge and understanding of other cellular components (in particular proteins) and biological systems are important, for them the genome remains in a dominant position – the master molecular collectivity which guides biological development and function. This raises a number of interesting implications for social scientists. It appears that we may have significantly overestimated the degree of shared understanding that exists between different scientists working in this field. The Sequence Ontology Consortium at UC Berkeley found that it took 25 scientists two days to reach a workable definition of a gene, while a study of 500 biologists when asked their opinion on whether 14 different sets of information constituted one gene, or more than one gene, gave inconsistent answers and were often evenly split on how many genes were actually present (Pearson 2006: 401). This may well hinder real co-operation between research groups, and further contribute to the difficulties facing bio-informaticians who work to standardise information gathered in large data sets. It may also herald the beginning of a post-genomic era as the ‘gene’ ceases to be a useful label without some descriptor, and is slowly replaced by a less ambiguous vocabulary (Keller 2000). Whether and when these changes filter through and affect the work of scientists and clinicians one step removed from front-line research, or its iconic status in popular culture, remains an open question (Moss 2003). It is made more complex by the interplay between the different bio-economies that make up these networks of social relations.
Re-thinking bio-economies The bio-economy is one of the oldest economic sectors known to humanity through selective plant and animal breeding and yet is at the forefront of contemporary scientific research. Innovation has been shown to be a heterogeneous mix of knowledge, imagination, technology and organisation, and wider ethical and socio-political activities operating in the complex networks of the research and knowledge system. This is equally true in the biosciences. Value is accumulated by transforming tissues, materials and data to form the knowledge-based bio-economies that are characteristic of society today. The OECD defines the ‘bio-economy’ as ‘a set of economic activities relating to the invention, development, production and use of biological products and processes’ (OECD 2008). The European Commission, as part of the Lisbon Strategy’s recognition of the central role of knowledge in promoting economic prosperity and social welfare, talked more explicitly about ‘the knowledge-based bio-economy’, and identified ‘a veritable kaleidoscope of colours and shades’ (European Commission 2005: 8) – red, green, white 4
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and grey. These provide the framework for economic accounts of multiple bio-economies along a single dimension. Red biotechnology encompasses the medical sector and pharmaceuticals. Green biotechnology relates to agri-food applications such as GM foods and crops. White biotechnology is also known as industrial biotechnology, processing and producing chemicals, materials and energy. Grey biotechnology refers to the environmental applications to create sustainable technological solutions. Contributors to this volume suggest that this linear approach does not do justice to the complexity that we find in the bio-economy, and that rather than a range of intersecting markets based simply on ‘the latent value in biological products and processes’, there are other dimensions to bio-economies that need our attention. The combination of the international flows of tissues and cells, the commercialisation of knowledge, patenting and biopiracy, substantial regional readjustments by firms through clustering and networking, and often competing demands from stakeholders and different publics about regulation and morality, fed by multi-media framings of the issues, all means that the knowledge based bioeconomy is fundamentally different from the system characteristic of the last century. Biotechnology, according to some commentators (for example, Callon 1998) is pushing the limits of economic theory, forcing economists to re-evaluate neo-classical assumptions, and to adopt new methods of analysis. The assumptions of homogeneous goods and homogeneous consumers need revisiting in the context of the new genetic technologies (Glasner and Atkinson 2006). Thus introducing a specific characteristic through genetic engineering may or may not make any outcome more desirable for the consumer/recipient. There has been an enormous increase in the codification of knowledge, which together with networks and the digitalisation of information is leading to its increasing knowledge commodification. There is increasing interdependence of international flows of goods and services, direct investment, and technology and capital transfers. There is increasing specialisation, with chains of production crossing international boundaries and a substantial national and regional structural adjustment, with an emphasis on flexibility and networking built through clustering. Markets now develop among publics as sites within which worldviews compete. Time has now become, alongside knowledge, a new factor of production essentially compressing and reordering existing conceptions of what is understood by the production process (as shown, for example, in the freezing or banking of ‘immortal’ stem-cell lines). In particular, knowledge is not appropriable in the way that natural resources or even labour time can be. It has the character to some extent of a ‘public good’, something that can be repeatedly ‘consumed’ without depleting its value. Together, these elements suggest that the transition to a knowledge-based economy requires that conventional economic understanding must indeed be re-examined. A conventional economic analysis is based on the circulation and exchange of materials, money and commodities, with value added through labour power. The bio-economy adds new forms of currency to this model through bio-materials, and through knowledge. Knowledge value chains increase the complexity of transactions in markets through particularly intellectual property, including patents, trade marks, brand names, copyright and licensing. Genomics as part of the knowledge bio-economy decouples the information it embodies from its material biological source (Franklin 2001). Vitality, as Catherine Waldby (2002: 310) nicely puts it, ‘is engineered in the laboratory’. Hence the knowledge bio-economy generates a different form of value to that found in the wider economy – bio-value, the yield of vitality produced by the biotechnological reformulation of living processes. This bio-value has become formalised and extended through bioinformatics to 5
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the extent that systems biology can now only operate within the growing pipeline of bioinformatics operations. Much of this value is added through the exchange of information, and actors protect their value-added by limiting the exchange process through patenting. This exchange value results in commodities that may then be bought and sold in the normal fashion, albeit within manifestly shifting cultures of knowledge production and consumption. These markets are partially constituted by how scientists imagine the public. They are also dependent on a more nuanced understanding of publics, and what is meant by public engagement. However, value is also added in other ways, by selling mediated futures through promissory science, moral value, to which we return below. Nation-states and global companies can outsource their research activities by operating within off-shore moral regimes (Bharadwaj and Glasner 2008). We even seem to be involved in a process of extraordinary ‘moral rendition’. Promissory visions are mediated through circuits of discourse in all domains to add value through representations. The ways in which the world is apprehended and represented by individuals are inseparable from the ways in which they inhabit it (Haran et al. 2007). The new biotechnologies are clearly still tools that are objects to regulate, produce or regenerate nature. But they are also constitutive of defining nature itself, framing it through active participation (Thacker 2005). As papers in this Handbook show, the outcome is manifested in multiple bio-economies. Together, these different forms of circulation generate different kinds of markets to those identified by the OECD and the EC. They operate in different but intersecting dimensions to red, green, grey or white biotechnology. They also show that as these bioeconomies develop differentially disjunctions may arise. Genetic information, tissues and processes are transformed into artefacts (for example therapeutic interventions) which are best understood as assemblages or networks of social relations in embodied forms (Parry and Gere 2006). These networks of individuals, technologies, institutions, practices and organisations are themselves embedded in different bio-economies, but require new social formations in which to become stabilised (Glasner et al. 2007). Stabilisation is a continually co-constructed process, and therefore a temporary (though sometimes long-lasting) phenomenon. Since different bio-economies evolve at different rates, for example when public views on GM differ from those of scientists or politicians, dislocations become manifest. The focus is often on the processes underpinning the dynamic nature of the engagements between these multiple bioeconomies that constitute many of the research sites discussed in this volume.
Rethinking innovation There is a clear danger that social scientists get drawn into the sort of hyperbole that currently surrounds biomedical discoveries in general, and genomic science in particular. There is a constant pull towards novelty. Social scientists repeatedly commit several related forms of novelty-claim. First, they repeatedly assert that their own conceptual formulations are novel. In many cases, the labels may be novel, but the underlying ideas are not: too many aspects of social sciences seem to consist of the application of new, fashionable, labels to existing ideas. Second, they seem equally prone to the identification of new social phenomena. New epochs, periods and formations are identified, under a multitude of different guises: from late modernity, liquid modernity or postmodernity, to the risk society. 6
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Genomics is one area of contemporary life, and the study of biomedical innovation one intellectual field, that has fostered many such novelty claims. They are normally intertwined. It is commonplace to argue that contemporary biological and medical sciences are undergoing revolutionary change, and that they call for equally innovative social analyses. We thus find social scientists explaining revolutionary change while simultaneously asserting that they themselves are producing equally innovative analyses. We are not convinced by such arguments. While it may be true that genomic science is innovative – and it would be hard to deny that altogether – we, as social scientists, have to be careful not to be seduced by its scientific novelty into assuming that it must therefore provide unprecedented social phenomena for analysis. These are issues, after all, that merit analytic attention and empirical analysis: they are not to be established or resolved by conceptual fiat. Here, therefore, we endorse the observations made by Birch (2006), who suggests a necessary caution on the part of social scientists who examine the multiple claims for ‘biofutures’ on the part of scientific, commercial and political interests. While we may well treat claims concerning biofutures as researchable topics, or as data for social-scientific analysis, there is no justification for social scientists to endorse and even amplify those very claims. We need, therefore, to exercise caution in our analyses of contemporary biomedical phenomena, in order to temper hyperbolic claims with more sober and sceptical analysis (Nightingale and Martin 2004). A case in point, is, perhaps, the idea of biosociality, a term coined by Paul Rabinow (1996: 99), and widely cited, adopted and adapted since. In and of itself, biosociality as an idea is relatively uncontentious: it could be argued to encapsulate a commonplace among sociologists or anthropologists of science, and to have been used to convey the impression of far greater novelty than is altogether legitimate. In his original essay, Rabinow’s formulation is intended to capture a potential transformation in the relations between nature, culture and society: If sociobiology is culture constructed on the basis of a metaphor of nature, then in biosociality nature will be modelled on culture understood as practice. Nature will be known and remade through technique and will finally become artificial, just as culture becomes natural. This counter-balance to the potentially potent reductionism of socio-biology is attractive. Like all such aphoristic formulations, however, it must be treated with caution. If we read it to mean that the categories of nature and of culture are both social products, then it seems – to a social scientist – unremarkable, to say the least. The sociological or anthropological analysis of biomedical phenomena has been predicated on such an analytic stance for decades. It is inherent in the constructivist programme that social and natural categories are equally susceptible to cultural analysis. If the scientific understanding of natural phenomena is underdetermined by nature itself, then nature may be ‘socially constructed’, without any implication that nature is thereby conjured whimsically out of nothingness. While there are different versions of constructivist thought, they all converge on the fundamental notion that ‘nature’ and its constituent categories are ‘cultural’ phenomena, produced through socially organised activity. So to that extent, the minimal claim for biosociality seems unremarkable at best. It goes further, however. It is argued, not just by Rabinow but by other commentators in the same vein, that recent years have witnessed the emergence of a distinctively new constellation, array or assemblage of factors from which has emerged a distinctively new 7
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set of relations between biomedical science and society. It is argued, for instance, that novel forms of ‘nature’ and of ‘identity’ are in process of being produced. This is based in part on the possibilities – and indeed realities – of cultural intervention into natural processes and the creation of novel forms of life. The transgression of previously ‘given’ natural categories is a key feature of the post-genomic revolution in biology. These include genetically modified organisms, chimeras and hybrids, and tissues or whole organs grown from stem cells. There is no doubt that contemporary biology is developing at a rapid pace, and that developments like the Human Genome Project, and techniques like cloning are helping to transform the subject-matter and the technologies of contemporary biomedical knowledge. It would be unwise, however, to extrapolate from that to imply that the forms of knowledge and their social implications are unprecedented. Indeed, the biomedical sciences have been replete with ‘revolutions’, of greater or lesser magnitude, for generations. Likewise, medical technologies and interventions have been characterised in terms of successive revolutionary transformations. The revolution in transplant surgery was, in the recent past, identified – in some quarters at least – as having quite similar revolutionary potential. The transgression of the ‘naturally’ given body through such overt and intrusive intervention as organ transplantation seemed to presage important shifts in perceptions of the body, the embodied self and identity. While transplantation has given rise to significant works of sociological commentary (classics of the genre include Fox and Swazey 1992; Hogle 1999; Lock 2001), it has become a taken-for-granted aspect of medical intervention, without apparently effecting wholesale transformations in general perceptions of embodiment and identity. An organ transplantation is undoubtedly a major life-event, and we do not make light of it in this context, but there is little evidence of major cultural transformations on a societal or global scale. It remains to be seen whether stem-cell technologies will automatically usher in revolutionary change in embodiment or in the cultural categories of natural types. Indeed, tissue engineering is taking place already, without dramatic cultural repercussions. Cosmetic surgery – which owes virtually nothing to recent ‘revolutions’ in biomedical knowledge – arguably has had more impact on culturally shared beliefs and practices surrounding the body and personal identity, and has had a direct impact on a collective perception of the body’s plasticity (Fraser 2003; Gilman 1999). In evaluating the revolutionary status of contemporary change, we need to project ourselves back historically. If we were to transpose contemporary sociological or anthropological perspectives back to earlier epochs – by way of thought-experiment – it would be perfectly conceivable to imagine a social-science analysis of the ‘galvanic revolution’ based on the electrification not only of the city but of the human body too. (For real examples of this phenomenon, see Morus 2002.) The homology between the circuits of electrical power in social and industrial settings and the identification of electrical impulses in the muscular and nervous system would raise major issues of the dialectic between social and natural categories. The capacity to manipulate electrical signals, and hence to transform the electrical state of the body – in health and in sickness – would be suggestive of new models of both biological and social systems. (The attentive reader will also find ways of spinning ‘electrical’ concepts based on transformers, generators, capacitors, relays, circuit-breakers and the like.) Our imagined anthropology of the galvanic moment would also note the commercialisation of electrical appliances and prostheses, so that the body becomes enmeshed in a privatised world of gadgetry: the encroachment of commercial interest upon the private body would be a major analytic 8
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topic, as would the possibility of human enhancement through electrification. This would be biosociality writ large. We raise this not simply in order to muse on an intellectual history of counter-factuals, but to make a rather obvious point. Biological and medical knowledge have undergone multiple ‘revolutionary’ changes, in the course of which some of the fundamental categories of thought and technologies of practice have undergone change – sometimes radical change. Those revolutions include the transformative effect of germ theory and the rise of bacteriology; the manifestation of hysteria and the category-fracturing emergence of psychosomatic theories; the rise of immunology and auto-immune explanations of disease causation. This is not a Whiggish interpretation of the biomedical past. We do not mention these things in order to dismiss them as incomplete revolutions, or to suggest that they were lesser in scale than contemporary transformations. Equally, we do not attempt to argue that they were ‘really’ more important. Our point is a more agnostic one. We suggest merely that contemporary obsessions with revolutionary change in the wake of genomic science and its medical applications are rather less novel than they appear. There have been repeated opportunities for new ‘assemblages’ to emerge in biology and medicine, through which the contours of the body have been revised, its boundaries transgressed and its categories transformed. As social scientists, therefore, we need to be especially careful not just to mirror claims for originality, nor to claim undue originality for our own analyses. Often both are the result of a certain myopia, rather than genuine novelty. We need to exercise care also when addressing the implications of medical genetics. It has been argued that the identification of genetic components for a wide range of medical disorders implies a radical transformation in the nature of contemporary medicine, and major changes in the foreseeable future. There is no disputing the fact that genetic medicine has itself developed rapidly in recent decades. Genetics has moved from being the preserve of specialists in medical genetics (dealing with familial disorders such as Huntington’s disease, cystic fibrosis or various muscular dystrophies) to incorporation within other spiritualisms, such as oncology, cardiology and psychiatry. The range of conditions for which individuals may be predisposed has expanded at a rapid rate. The notions of genetic risk and susceptibility clearly resonate with broader cultural preoccupations with risk, while notions of genetic constitution imply a degree of determinism or predestination that seems to go beyond previous forms of illness and patienthood. It has, for example, been suggested that the notion of being ‘at risk’ (of developing breast cancer, for instance) or even of knowing that one will develop a genetic condition (such as Huntington’s) creates a new class of pre-patients, or candidate patients. There is some empirical merit to such an idea. There is no doubt that some risks and some conditions can create distinctive kinds of orientation towards one’s estimated risks, one’s body and one’s sense of physical stability: the use of prophylactic surgery by women who have high risk of breast cancer is a clear case in point. Indeed, breast cancer seems to be a particular case, rather than an example of a generic phenomenon. The identification of two genes – BRCA1 and BRCA2 – that significantly increase a woman’s risk of breast cancer has led to a considerable level of activism in various national contexts (see Konrad 2005; Parthasarathy 2007). It would, however, be rash to assume that these can be generalised or that they necessarily lead to wholesale transformations in everyday conceptions of health, illness and patienthood. The studies of breast cancer activism alone show that national contexts of health-care provision and cultural practices concerning lay 9
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participation in decision-making and policy-formation are of greater significance than any specific biomedical innovation. Careful empirical studies based on specific medical conditions suggest that much more nuanced and less extreme formulations are needed. Lock’s study of Alzheimer’s disease, Bharadwaj and Atkinson’s work on haemochromatosis, among others, provide correctives to overheated ideas. Lock suggests, for instance, that – certainly for the foreseeable future – the predictive power of genetic testing is so limited as to preclude the formation of any identities based on risk status, so that even if people learn about their genetic status, there is no way of knowing who will or will not develop dementia. She concludes, therefore, that ‘it is likely that the DNA segment known as APOEε4 will never amass sufficient power, scientific or symbolic, to be a potent signifier intimately associated with dementia’ (Lock 2007: 73). In the same vein, Bharadwaj et al. (2007) suggest that the discovery that one is susceptible to genetic haemochromatosis does not seem to lead to a major transformation in identity, or to a radical reformulation of kinship relations. The new genetics undoubtedly have significant implications for medicine. More and more medical conditions – common and rare, somatic and psychological – are associated with genetic bases. Some commentators have suggested that the geneticisation of medicine leads to wider cultural changes. In particular, it is suggested that there is a renewed emphasis on the individualisation of health problems and the essentialisation of bodily processes (Lippman 1992). Likewise, the identification of genetic susceptibility is held to create the novel category of the ‘pre-patient’, a new social position to stand alongside the sick role (Konrad 2003). These are, indeed, important issues. They have led to some big claims. On the other hand, risks and susceptibilities are not confined to the realm of genetic medicine: ideas of constitutional weakness have a long history in professional and popular conceptions of health and illness. Recent developments in genetic psychiatry have extended the range of medical conditions and psychological problems that have a genetic component: from schizophrenia and bipolar disorder to ADHD, autism and dyslexia. These seem to derive from complex interactions between susceptibility genes and environments. The consequences for models of psychiatric illness are far-reaching. It is clear that the standard classification of major psychiatric disorders (derived from that originally proposed by Kraepelin and used in revised form today most widely as the DSM4, the Diagnostic and Statistical Manual of the American Psychiatric Association) does not correspond well to the classifications suggested by the new genetic evidence. New genetic technologies will permit clinicians to make diagnoses and prescribe treatments with great accuracy and sensitivity. What is not new, however, is the very idea of inherited susceptibility to psychological illness. As Gaudillière and Löwy (2001) have noted, nineteenth-century psychiatry was suffused with notions of inherited degeneration. As Featherstone et al. (2006) noted – in common with others – members of families identified as sharing a risk of developing a genetic illness do not necessarily have a geneticised identity as a master-status in their everyday lives. The presence of clinical illness in the family – such as muscular dystrophy or haemophilia – can create serious problems of everyday living for individuals and their carers. The sharing or withholding of genetic information within a kindred is an issue of some importance in some families. But these problems are incorporated within more general patterns of family life and coping. Likewise, the information gained from genetic counsellors and other professionals does not exercise a dominant influence over lay people’s mundane understandings and explanations of health, illness, embodiment or inheritance. Instead, that information 10
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enters a rich cultural domain of everyday beliefs, mixed with understandings gleaned from mass media and other representations of contemporary science. Even among lay people whose lives are directly (or potentially) affected by genetic illness, we do not necessarily find a geneticisation of self and identity. While such a geneticisation may occur in some groups and under certain circumstances, it is clearly not a universal phenomenon, and is not a necessary consequence of the rise of genetic medicine. We need to temper, therefore, analyses of the undeniable changes in current medical science and practice with the recognition that changes in medicine are rarely – if ever – wholesale. Genetics has not, and does not seem likely to, effect a major revolutionary change in the practice of medicine or in everyday categories of medical thought. Indeed, the evidence from studies of clinical work and clinical reasoning suggest something rather different. We need to think of multiple modes of medical thought and clinical work. Armstrong’s analysis has already suggested multiple modes of the clinical gaze: these coexist, as one does not supplant all previous modes. In the same way, we must think of medical thought couched in terms of genetic risk or susceptibility co-existing with ‘traditional’ modes of clinical perception and reasoning, together with population-based and preventive perspectives. There seems to be very little evidence to suggest wholesale changes in the culture of medicine in the wake of genetic innovations. Similar caveats are in order when we widen the focus to include ideas of biological citizenship and governmentality. The work of Michel Foucault has been disproportionately influential among some anthropologists and sociologists of biomedical knowledge. In particular, his analysis of governmentality has exercised special influence. In general, it is argued that new biomedical technologies – not least in the field of genetics – furnish renewed ways for the management of bodies. The biological, in this view, acquires a new potency. The identification of individuals and groups as being at risk, and the consequent modes of regulation that ensue, therefore, provide new modalities for the exercise of power. Now this is, in one sense, undeniable. But it is so because this is not an especially new phenomenon. There is nothing especially novel in the use of biomedical categories to exercise social power. The history of women’s bodies presents multiple examples that long predate contemporary biomedical science and its applications. As a number of authors have shown (see, for example, Delamont and Duffin 1978), the emergence of various feminist initiatives in the late Victorian and Edwardian periods were consistently met by arguments that reinforced the biological bases of women’s social position. The feminist pioneers of academic education for women were repeatedly confronted by arguments, validated by medical experts, to the effect that the female constitution was incapable of sustained and serious intellectual work. These arguments were firmly grounded in the best available scientific and medical idioms of the day: they were not simply cooked up for the particular anti-feminist agenda. In other words, the regulation of gender relations was based firmly on biomedical knowledge. Equally, the feminist agenda was configured in terms that recognised and opposed the dominant biomedical model. The fitness of women was not merely asserted or demonstrated: educational pioneers intervened directly in enhancing the fitness of women and girls through exercise regimes, cycling, outdoor games and rational dress reform (Atkinson 1978). This is but one among many examples of biomedical knowledge being used to regulate bodies and identities, to shape and constraint social opportunities. Life-chances are translated into biomedical inevitabilities. The genome is undeniably a powerful cultural symbol. As analysts like Anker and Nelkin (2003) have shown, DNA is a contemporary icon. But they also show that it is 11
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not unique. Indeed, the genome, body-parts, cosmetic surgery and the like are part of a wider cultural Gestalt, of gothic imagery and fictions. The biomedical bases of such imaginaries are not confined to genetic or genomic science. They are but aspects of a generic cultural orientation towards mutant and monstrous forms of life, evolution and natural species, or the boundaries between human and non-human. Furthermore, we need to be mindful of the fact that the gothic imagination has a long history in fiction and graphic arts. There has long been a symbiotic relationship between science, medicine and the arts. Gothic fiction has traded in the possibilities suggested by scientific innovation for the entire period since its origins two centuries ago. The gothic genre has been preoccupied with the mutability of natural types and the transgression of natural boundaries since its inception. This has often been based on notions of mutation, evolution and inheritance. But it does not rest on specific innovations surrounding the genome, or stem-cell technologies. Recent developments have obviously added to the repertoire of biological idioms: newer versions have included the trope of human cloning, for instance. But they are by no means unique. When we confront contemporary cultural images and tropes, therefore, we need to remember the broader and historical cultural contexts in which they are located. Analysis that lacks historical depth or cultural breadth may attribute novelty to recent formations where little or none exists. It is clear that recent work on population genetics has given new currency and urgency to shared narratives of national or racial identity. There are now major studies that document significant cases. Collective identities of ‘the people’ and ‘the nation’ are frequently based on notions of biological or racial origin and distinctive genetic constitution. Contemporary genetic science can thus be married to longstanding narratives of collective history. An important case in point is the use of genetic markers to seek legitimation of the origins of ‘black Jews’ in different parts of the world (Parfit and Yugurova 2006). The role of genetics in Iceland has taken on a special resonance with the contentious national collection of Icelanders’ DNA producing a public interest that led in turn to ‘an imagined community based on kinship ties’ (Pálsson 2007: 79). Recent research by Prainsack (2007) and others also documents how biological relatedness is used to make sense of a national-cum-ethnic shared identity in Israel. These and other studies like them show that contemporary genetic science is used to warrant and to frame mutual understandings of what it is to share a common heritage, to have a common lineage or descent. But we must not forget the extent to which similar idioms of relatedness have been used. Pálsson (2007) reminds us that representations of descent have a long history in their own right. Narratives of inheritance, blood and breeding did not need to wait for the structural analysis of DNA or for the human genome project to be completed. The social facts of descent and collective identity are not determined either by the science of biology. These caveats do not empty the ‘new’ genetics of analytic significance for sociologists and anthropologists. Far from it. There has been a significant convergence between the interests of anthropologists and sociologists of health and illness, cultural analysts of the body, and specialists in science and technology studies (STS). The new life sciences have provided a constellation of empirical studies and analytic issues. Indeed, the general field of STS has become increasingly dominated by studies of biological and medical phenomena. While this does not in itself guarantee that there are significant issues of any novelty, it furnishes us with a certain density of studies. There is a symbiotic relationship between the sciences and their social analyses: so far, the late twentieth- and early twenty-first centuries are marked by new biologies, and by new social studies of 12
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biomedical knowledge. It is, however, the task of the social scientist to analyse the ‘hype’ that surrounds claims to novelty, and not to succumb to or endorse it. We need to tread a careful line between two extremes. At one end of the discursive spectrum is the rhetoric of ‘nothing new’. From this standpoint, there are no genuine novelties and no new discoveries to be made: the forms of science and of medicine remain essentially unchanged. At the other extreme, there is novelty everywhere: new biotechnological and biomedical applications inexorably give rise to new social forms. We have provided examples in this introduction that point in both directions. Somewhere between the two lies the terrain of empirical social research and social theory informed by that research. On that basis, the outcomes of careful analysis will lie between our two extreme formulations. New biologies do have new social and cultural implications. But one cannot simply read the social off from the natural.
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Gibbon, S. (2002) ‘Re-examining geneticization: family trees in breast cancer genetics’, Science as Culture, 11, 4: 429–57 Gibbon, S. and Novas, C. (eds) (2007) Biosocialities, Genetics and the Social Sciences. London: Routledge. Gilman, S.L. (1999) Making the Body Beautiful: A Cultural History of Aesthetic Surgery. Princeton, NJ: Princeton University Press. Glasner, P, and Atkinson, A. (2006) ‘The genome as intermediary’, Body and Society, 12, 3: 121–31. Glasner, P., Atkinson, A. and Greenslade, H. (eds) (2007) New Genetics, New Social Formations. London: Routledge. Haran, J., Kitzinger, J., McNeil, M. and O’Riordan, K. (2007) Human Cloning and the Media. From Science Fiction to Science Practice. London: Routledge. Hogle, L. (1999) Recovering the Nation’s Body. New Brunswick, NJ: Rutgers University Press Keller, E. Fox (2000) The Century of the Gene. Cambridge, MA: Harvard University Press. Kerr, A. (2000) ‘(Re)constructing genetic disease: the clinical continuum between cystic fibrosis and male infertility’, Social Studies of Science, 30, 6: 847–94. Konrad, M. (2003) ‘Predictive genetic testing and the making of the pre-symptomatic person’, Anthropology and Medicine, 10, 1: 23–49. —— (2005) Narrating the New Predictive Genetics. Cambridge: Cambridge University Press. Lippman, A. (1992) ‘Led (astray) by genetic maps: the cartography of the human genome and health care’, Social Science and Medicine, 35, 12: 1469–76. Lock, M. (2001) ‘The alienation of body tissue and the biopolitics of immortalised cell lines’, Body & Society, 7, 2–3: 63–91. ——(2005) ‘Eclipse of the gene and the return of divination’, Current Anthropology, 46, Supplement: S47–S60. —— (2007) ‘Biosociality and susceptibility genes: a cautionary tale’, in S. Gibbon and C. Novas (eds) Biosocialities, Genetics and the Social Sciences: Making Biologies and Identities. London: Routledge. Morus, I.E. (ed.) (2002) Bodies, Machines. Oxford: Berg. Moss, L. (2003) What Genes Can’t Do, Cambridge, MA: MIT Press Nature (2006) ‘Coping with complexity’, Nature, 441 (25 May): 383–4. Nightingale, P. and Martin, P. (2004) ‘The myth of the biotech revolution’, TRENDS in Biotechnology, 22, 11: 564–9. OECD (2008) ‘The bioeconomy to 2030: design and policy agenda’, OECD Biotechnology Update, 19 (30 April): 3–4. Pálsson, G. (2007) Anthropology and the New Genetics. Cambridge: Cambridge University Press. Parfit, T. and Yugurova, Y. (2006) Genetics, Mass Media and Identity. A Case Study of the Genetic Research on the Lemda. London: Routledge. Parry, B. (2006) ‘New spaces of biological commodification: the dynamics of trade in genetic resources and “bioinformation”’, Interdisciplinary Science Reviews, 31, 1: 19–31. Parry, B. and Gere, C. (2006) ‘Contested bodies: property models and the commodification of human biological artefacts’, Science as Culture, 15, 2: 139–58. Parthasarathy, S. (2007) Building Genetic Medicine: Breast Cancer, Technology, and the Comparative Politics of Health Care. Cambridge, MA: MIT Press. Pearson, H. (2006) ‘What is a gene?’ Nature, 441 (25 May): 399–401. Prainsack, B. (2007) ‘Natural forces: the regulation and discourse of genomics and medical technologies in Israel’, in P. Glasner, P. Atkinson and H. Greenslade (eds) New Genetics, New Social Formations. London: Routledge, pp. 231–52. Rabinow, P. (1996) Essays on the Anthropology of Reason. Princeton, NJ: Princeton University Press. Redclift, N. and Gibbon, S. (2006) ‘General introduction: Genomic cultures? Debating the social meaning of new scientific knowledge’, in N. Redclift and S. Gibbon (eds) Genetics: Critical Concepts in Social and Cultural Theory, Volume 1. London: Routledge. Rose, N. (2007) The Politics of Life Itself. Princeton, NJ: Princeton University Press. Thacker, E. (2005) The Global Genome: Biotechnology, Politics and Culture. Cambridge, MA: MIT Press. Waldby, C. (2002) ‘Stem cells, tissue cultures and the production of biovalue’, Health, 6, 3: 305–23.
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Section One Biomedical applications of new genetic technologies
2 Introduction Susan E. Kelly
Biomedical applications of genetics and genomics remain at the centre, and human health the primary rationale, of the genomic revolution, even as impacts of the ‘molecular revolution’ continue to expand across the life sciences and society. Biomedical applications of genetics and genomics encompass an expanding range of technologies and their social relations, some located within the clinic but many engaged in diverse locations, from laboratories to internet sites, linking increasingly complex networks of patients and families; genes, genomes and cells; multinational corporations; public and private capital; knowledge production platforms; heterogeneous forms of governance, and emerging (and shifting) forms of bio-social identity. Health-related technologies emerging broadly from the Human Genome Project (HGP) operate across boundaries of traditional spaces and relations of biomedical activity, and have contributed to blurring understandings of what ‘biomedical’ applications constitute, in what areas of life they operate, with what intentions and with what effects. ‘Biomedical applications’ are further transformed as attention, among both natural and social scientists, turns increasingly towards translation and movements between ‘bench and bedside’ (see Wainwright et al., this section), as patients, their genes and their cells circulate through clinics, laboratories and markets in what Carlos Novas has termed ‘political economies of hope’ (Novas 2005). The Human Genome Project was promoted with the vision of a new era of medicine, based on the projected identification of the underlying genetic components of human disease. Biomedical applications would move beyond diagnosis – the identification of ‘genetic disease’ – to intervention, and the development of new treatments and cures exploiting genetic knowledge to directly ‘fix’ the faulty biological building blocks of diseased bodies (as in gene therapy) or correct faulty biochemical products and pathways (as in novel pharmaceuticals). The 1980s saw the introduction of genetic tests which were directed towards detecting deleterious mutations that ‘cause’ diseases including cystic fibrosis and Huntington’s disease. These so-called ‘single gene’ disorders came to define a particular paradigm of biomedical application, that of not only refining diagnosis but of evaluating the ‘genetic risk’ of an individual developing a disease in the future. This paradigm has shaped social understandings as well as treatment of at least some diseases, and has had impacts on the social, embodied experiences of illness, or in the case of disease predisposition, of potential future disease. For example, the discovery of inherited 17
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predisposition genes for the breast and ovarian cancers (BRCA1 and 2), and the introduction of genetic testing, have given clinicians and some women an additional tool for managing both risk and fear, particularly by individualising risk estimates. It has provided cultural narratives as well as biomedical interventions (in the form of novel drug treatments and prophylactic surgery) with regard to managing risk, self and family (Gibbon 2002; Parthasarathy 2003). However, breast cancer may prove to be exceptional with regard to the entry of genetic testing for complex diseases into clinical practice, and it is not at all clear how the flood of discovery of genetic variations associated with relatively low increased risk for complex disorders emerging from genome-wide association studies will translate into biomedical applications. Much of the social and ethical analysis of the ‘new genetics’ has focused on continuities and discontinuities with past eugenic practices, and on bioethical concepts of autonomy and privacy, through which such rights as that ‘not to know’ one’s genetic susceptibility ‘future’ have emerged and now shape, and indeed are constitutive of, biomedical applications themselves. As genetic testing programmes for some diseases are incorporated into health care provision in the developed or industrialised world, the socio-technical systems that make up these programmes – the information, instrumentation, tissues, processes, organisations, institutional spaces, patient pathways or clinical ‘journeys’, and socio-legal apparatuses – vary among specific national and even regional contexts and are shaped by local contingencies, histories, identities and politics (see Beck and Niewöhner, this section; Parthasarathy 2004). As a range of social science analyses have shown, the genetic testing paradigm has had uneven implications for understanding and managing disease (Hedgecoe and Martin 2008), resisting being understood as simple or straightforward applications of genetics and genomics into biomedical practice. To date, perhaps the most common biomedical application of genetics has been in the arena of reproduction, including prenatal genetic diagnosis and the prevention of disease through selective termination, carrier testing and the management of ‘risky’ reproduction, and more recently the intersections of molecular genetics and assisted reproduction. Exemplifying intensification of biovalue (Waldby 2002) in the antenatal period, researchers continue to search for less invasive means of applying a wider range of genetic diagnostic capabilities to reproduction. These biomedical applications have, in practice and in discourse, been normalised and routinised at the same time that (at least in some forms) they have engendered ethical debate. Biomedical applications of reproductive genetics to date have raised difficult questions about ‘making up persons’ (Hacking 2007) in the forms of parental and societal choices about the nature and characteristics of children brought into the world. As Anne Kerr (this section) argues, the social, ethical and institutional discourses and practices of reproductive genetics both frame and limit reproductive choices and avoid, rather than acknowledge and confront, the ambivalences they raise for prospective parents, professionals and society. Kerr connects the need to confront ambivalence in the realm of reproductive genetics to possibilities of creative engagement with ambivalence in the broader political community, reminding us, together with the other authors in this section, that how biomedical applications of genetics and genomics are constituted and engaged is reflective of broader political and moral trends. However, many of the biomedical applications projected to emerge from the HGP remain in the arena of ‘promissory science’ (Hedgecoe 2004). Gene therapy, for example, has proven successful for treatment of but a handful of diseases, despite enormous 18
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expectations (e.g. Stockdale 1999). Likewise, pharmacogenomics has with but few exceptions impressed more with its promises (and cautionary discourses) than its impacts on clinical practice (Hedgecoe 2004). It is interesting and perhaps indicative of the propensity of some social science to emphasise dramatic transformations that one of the more important biomedical applications arising from genetic and genomic sciences has received very little social scientific or philosophical attention – DNA analysis of bacteria, viruses and parasites using RT-PCR, which allows rapid identification in clinical settings and much quicker treatment. While the paradigmatic biomedical application of genetics has been genetic testing in its various forms, a key driver of genomic applications has been the concept of ‘personalised medicine’ and more recently, ‘the personal genome’, including such applications as nutrigenomics (see Chadwick, this section) which trouble the label ‘biomedical’. Brought forward through intensification of biomedical research seeking gene associations, the increasing rapidity and dropping costs of gene sequencing, and following the commercialisation of links between populations and individual risk and identity such as pioneered by deCODE Genetics, the personal genome is directed towards individual access and use of genetic information related unstably to traditional biomedical applications and spaces. The personalised genome may be justified with recourse to languages of health and disease prevention, but the appeal is towards a geneticised form of self-knowledge, of self-empowerment, of personal control. Applications such as nutrigenomics blur boundaries separating biomedical applications from lifestyle. With the increasing presence of direct to consumer genetic testing products on the internet, with or without the mediation of medical professionals, the socio-ethical ‘information management structure’ that erected around genetic testing – management of privacy and of genetic information has been within families, the sanctity of informed consent, the non-directiveness of genetic counselling – is relegated to the background (or turned on its head) by rationale of consumer rights to access genetic information, to ‘control’ individual destiny, and to evaluate the usefulness of information as well as the scientific claims upon which it is based. Whether nutrigenomics constitutes a biomedical application of genetics and genomics is not a straightforward question, nor will a category such as ‘biomedical applications’ necessarily maintain its meaning, as products of an increasingly consumer-, rather than practitioner-, oriented industry, continue to emerge.
References Gibbon, S. (2002) ‘Re-examining geneticization: family trees in breast cancer genetics’, Science as Culture, 11, 4: 429–57. Hacking, I. (2007) ‘Making up people’, in M. Lock and J. Farquhar (eds) Beyond the Body Proper: Reading the Anthropology of Material Life. Durham, NC: Duke University Press, 150–63. Hedgecoe, A. (2004) The Politics of Personalised Medicine: Pharmacogenetics in the Clinic. Cambridge: Cambridge University Press. Hedgecoe, A. and Martin, P. (2007) ‘Genomics, STS, and the making of sociotechnical futures’, in E.J. Hackett, O. Amsterdamska, M. Lynch and J. Wajcman (eds) The Handbook of Science and Technology Studies (third edition).Cambridge, MA: MIT Press, 817–39. Novas, C. (2005) ‘Genetic advocacy groups, science and biovalue: creating political economies of hope’, in P. Atkinson and P. Glasner (eds) New Genetics, New Identities. London: Routledge.
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Parthasarathy, S. (2003) ‘Knowledge is power: genetic testing for breast cancer and patient activism in the United States and Britain’, in N. Oudshoorn and T. Pinch (eds) How Users Matter: The Construction of Users and Technologies. Cambridge, MA: MIT Press, 133–50. —— (2004) ‘Regulating risk: defining genetic privacy in the United States and Britain’ Science, Technology and Human Values, 29, 3: 332–52. Stockdale, A. (1999). ‘Waiting for the cure: mapping the social relations of gene therapy research’, in P. Conrad and J. Gabe (eds) Sociological Perspectives on the New Genetics. Oxford: Blackwell, 79–96. Waldby, C. (2002) ‘Stem cells, tissue cultures and the production of biovalue’, Health, 6, 3: 305–23.
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3 Biomedicalising genetic health, diseases and identities Adele E. Clarke, Janet Shim, Sara Shostak and Alondra Nelson
As the focus of the natural sciences shifted from cellular to molecular levels over the last half of the twentieth century, the question ‘What is life?’ has increasingly been raised. Rose (2007: 6–7) recently posited a parallel epistemic shift in biomedicine from the clinical gaze to the molecular gaze such that ‘we are inhabiting an emergent form of life’. Through biomedicine, molecularisation is transforming what Foucault called ‘the conditions of possibility’ for how life can and should be lived. The emergent biomedical molecular gaze offers possibilities of changing bios – ‘life itself’ – especially, but not only, through genetics and genomics. These new biomedical practices are increasingly transforming people’s bodies, identities and lives. Historically, medicalisation has extended the legitimate jurisdiction of medicine into new areas of human life (Conrad 2000, 2007). Today biomedicalisation, relying more deeply on the biosciences, not only further extends but also reconstitutes biomedicine through technoscientific innovations often perceived as ‘imperative’ (Clarke et al. 2003, 2009). Genetics and genomics are increasingly major mechanisms of biomedicalisation. Consequently, biomedicalisation, next described in more detail, provides an exceptionally useful framework through which to read this Handbook.
Biomedicalisation theory: the new genetics and identities At its most basic, biomedicalisation is about technoscientific transformations of health, illness and identities. It is an historical concept (e.g. Starr 1982; Clarke 2009a). In the US and UK, by the end of World War II, the professionalisation and institutionalisation of medicine had fully established scientific medicine as a legitimate, state-authorised politico-economic sector.1 Over the next decades, medicalisation – the expansion of medical jurisdiction, authority and practices into new institutional and definitional realms – elaborated, constituting the medicalisation era. For example, alcoholism and drug abuse moved from the professional jurisdiction of the law to that of medicine and were (re)defined as diseases. State as well as private investment in medical research, health care service provision, pharmaceuticals and technologies also expanded, fuelling medicalisation. 21
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Since c.1985, dramatic changes in both the organisation and practices of contemporary biomedicine, implemented largely through the integration of new technoscientific innovations (including applications of the biosciences, computer and information sciences and technologies) have been coalescing into biomedicalisation (Clarke et al. 2000, 2003, 2009; Clarke 2009a, 2009b). This third major era of scientific medicine is characterised by changes in how we can think about and live ‘life itself’. The crux of biomedicalisation theory is that today medicine, broadly conceived, is being transformed from the ‘inside out’ through new socio-technical arrangements that implement biomedical sciences and technologies to intervene in health, illness, healing, the organisation of medical care and research, cultivating emergent forms of life. Five main interactive and overlapping processes together constitute biomedicalisation. First is a new biopolitical economy of medicine, health, illness, living and dying. Here biomedical knowledges, technologies, services and biocapital are ever more co-constituted – mutually produced, maintained and transformed.2 The centrality of biocapital (capital organised by and through bios – life in its many forms) and biolabour (the heterogeneous forms of labour that go into the production of biocapital) cannot be overemphasised (see Clarke et al. 2009). Expanding bios-centred economic sectors – agriculture, biofuels, biomedicine, health – demonstrate their growing importance. The second key process of biomedicalisation is a new and intensifying focus on ‘health’, broadly conceived, in addition to traditional medical focus on illness, disease and injury. This includes expanding attention to and capacities for embodied enhancement by technoscientific means, nicely captured by Rose (2007) as ‘optimisation’. Today we are expected to ‘be all that we can be’ and are increasingly deemed responsible for being so. The flip-side of the intensifying focus on health is its requisite elaboration of risk and surveillance at individual, niche group3 and population levels. These are accomplished by varied forms of monitoring, assessment, screening, check-ups, etc. The third key process is the technoscientisation of biomedical practices. Interventions for treatment, enhancement and optimisation are progressively more reliant on sciences and technologies, are conceived in those very terms, and are ever more promptly applied. ‘Miracles of modern medicine’ writ large – and frequently. The fourth key element of biomedicalisation, somewhat less familiar, includes transformations of biomedical knowledge production, information management, distribution and consumption. To unpack this a bit, today the very ways in which new biomedical knowledge is being produced and managed by the sciences are different – deeply reliant on computer and information sciences. Classic examples here are the decoding of the human genome and the maintenance of complex databases. Distribution of and access to scientific knowledge have also changed dramatically – for scientists and for most everyone else. Use of the internet to seek diagnostic and treatment information and build communities is one major manifestation. Another is the dramatic growth in self-health books and articles. All this publicly accessible information is generally ‘oriented to those whose bodies and identities are already implicated in the sciences in question, and … offers … the expression of agency of those involved in the technologies’ (Thompson 2005: 265). Thus patients/consumers not only have greater access to knowledge but also greater responsibilities for using/applying it – and not only for ourselves but also for others. Using such new knowledge vis-à-vis genetic issues can be especially fraught, for example in preventive genetic counselling (e.g. Latimer 2007) and new direct-to-consumer (DTC) genetic testing (Nelson 2008a). Fifth and last, biomedicalisation theory is also concerned with how biomedical transformations of bodies are producing new individual and collective (niche group or 22
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population level) ‘technoscientific identities’.4 Such identities are constructed through technoscientific means via the application of sciences and technologies to our bodies directly, to our individual and collective histories, and/or to bodily products such as blood, DNA samples or images. These new identities are generating new ‘biosocialities’ – new modes of social relations deeply linked to living with such identities. Thus the ‘bio’ in biomedicalisation does several kinds of work. It signals the increasing importance of bios vis-à-vis biocapital and biolabour. It highlights the salience of the biological sciences to biomedicine. It signals that Foucaultian questions of biopower and biopolitics are integral (Foucault 2008): power is ‘situated and exercised at the level of life’ – bios – and biopolitics today embraces ‘all the specific strategies and contestations over problematisations of collective human vitality, morbidity and mortality’ (Rabinow and Rose 2003/2006: 196–7). Last, emergent biosocialities – especially but not only genetic – link identities to action, for example through patient groups and health social movements (Rabinow 1992, 2008; Gibbon and Novas 2008). It is against this broader backdrop of social theorising about changes in ‘life itself’ that biomedicalisation needs to be understood. Both the concepts of medicalisation and biomedicalisation are vital to understanding the increasing and widening impacts of genetics. Medicalisation continues unabated. Its practices (and the technosciences which inform them) typically emphasise exercising control over medical phenomena (Clarke et al. 2003). Medicalisation via genetics thus means that areas of life not previously framed through hereditary lenses now increasingly are, and enhanced control over such phenomena is commonly deemed desirable – for example, prenatal genetic diagnostics (Rapp 1999; Franklin and Roberts 2006). In contrast, biomedicalisation practices (and the technosciences which inform them) emphasise transformations of these phenomena, largely through making high-tech biomedical interventions possible and available sooner rather than later, not only for treatment but increasingly also for prevention, optimisation and enhancement (Clarke et al. 2003, 2009). The potentialities of genetics and genomics5 today exemplify biomedicalisation – perhaps most vividly through the as yet unrealised promise of gene therapies, pharmacogenomics and ‘personalised’ medicine. Within the broader epistemic shift from the clinical to the molecular gaze, then, medicalisation and biomedicalisation can be understood as the sociocultural infrastructures through which genetics, genomics, biotechnology and biomedicine emerge and on which they are built. Thus they are foundational to – set the conditions of possibility for – the development and applications of genetics and genomics. Significantly, medicalisation and biomedicalisation both legitimate and compel interventions that may produce transformations in individual, familial and other collective identities. The concept of ‘technoscientific identities’ serves as a useful generic term for risk-based, genomics-based, epidemiology-based and other technoscience-based identities (Clarke et al. 2003: 182–3). In this chapter, we elaborate upon current and emergent genetics-based technoscientific identities taken up individually, collectively and in terms of (sub)populations. New technoscientific identities are frequently inscribed upon us regardless of our preferences. For example, individuals and families may unexpectedly learn they are genetic carriers of inherited diseases. New kinds of individual subjectivities arise through such biomedical governmentality as people negotiate the meanings of these identities in heterogeneous ways (e.g. Blackman et al. 2008). That is, attribution of a technoscientific identity does not equal acceptance of it (e.g. Novas and Rose 2000). Technoscientific identities are negotiated – selectively refused, ignored, accepted, and/or managed – because of their stigmatising capacities.6 23
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Technoscientific subjectivities such as these have been conceptualised as ‘biomedical identities’ (Dumit 2003), ‘biological citizenship’ (Novas and Rose 2000; Rose 2007), ‘genetic citizenship (Heath et al. 2004; Gibbon 2007), and ‘biopolitical citizenship’ (Epstein 2007a: 11, 21). Across these, ‘citizenship’ is concerned with potentials for statebased recognition and inclusion of marked individuals and/or groups through the articulation of civil rights and responsibilities with health concerns. In this chapter, we use the analytic frame of biomedicalisation to elucidate three dimensions of the new genetics: (1) health, disease, risk and the optimisation or enhancement of individual bodies, life chances and futures; (2) individual and collective identities and advocacy through health social movements engendered by biomedicalisation vis-à-vis genetics; and (3) individual and collective identities rooted in the genetics of race, geographic ancestry and aspects of human behaviours. We demonstrate how biomedicalisation theory helps illuminate the conditions of possibility for both current applications and future translations of new genetic knowledge from bench to bedside.
Biomedicalising genetic health, disease, risk and enhancement In the biomedicalisation era, the biosciences (including the new genomics) and the will to know and transform oneself, one’s body and one’s future are mutually constituted and co-produced, creating new conditions of possibility. This section reviews the main perspectives on such possibilities that have emerged, raising questions about how genetics research produces knowledge about human bodies in the present and in the future – and how these questions connect to biomedicalisation. Early genetic research tended to focus on simple, single gene disorders such as sickle cell anaemia (Pauling et al. 1949). Today, however, many if not most major diseases are not seen as monogenic, but instead as complex multifactorial conditions thought to involve multiple genes, as well as interactions between genes and environments (Rutter et al. 2006; Lock 2005; Shostak 2003; Hedgecoe 2001; Perrin and Lee 2007). These are very challenging to assess (Turkheimer 2006). Consequently, most current research into the role of genetics in disease aetiology seeks to identify single nucleotide polymorphisms (SNPs) (or markers for as yet unidentified polymorphisms) that may indicate the likelihood that an individual with a specific marker will develop a particular disease. Notably, rather than diagnosing actual disease, the presence of genetic markers diagnoses individuals as more or less susceptible to specific conditions. Susceptibility testing is often the practice (Richards 2001) at the centre of complicated ‘sociotechnical networks’ of genetic counsellors, clinicians, disease registries, diagnostic technologies and advocacy groups (Hall 2005; Stemerding and Nelis 2006; Vailly 2006).7 The frame of ‘susceptibility’ (see Rose 2007: 18–20) resonates deeply with discourses of risk and the ethics of personal responsibility, an orientation to the future, and the possibilities for remaking oneself in order to optimise life itself that characterise the biomedicalisation era. One central pillar of biomedicalisation theory is the intensified focus on health, risk and surveillance (in addition to illness, disease and trauma). Genetic susceptibility testing represents one powerful domain of the elaboration of surveillance through the identification of individuals and (sub)populations as ‘at risk’. Further, genetics may define individuals and/or specified (sub)populations as at differing degrees of risk, from ‘low’ to ‘moderate’ to ‘high’ in cases where the relationship of inherited or acquired genetic mutations to disease susceptibility is cumulative. Examples of currently available 24
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susceptibility testing include genotyping for BRCA 1 and BRCA 2 genes (linked to 5–10 per cent of breast cancers) and APOE ε4 genes (thought to confer increased risk for late onset Alzheimer’s disease) (Parthasarathy 2007; Lock 2005). These examples parallel other kinds of biomarker-based risk factor assessment, especially in their focus on the individual as the locus of risk and prevention, that are also proliferating (e.g. Shostak and Rehel 2007; Washburn 2009). The assumed benefit of testing for susceptibility markers is that more carefully calibrated levels of intervention (whether in the form of surveillance, prophylaxis or changes in ‘lifestyle’), customised to the specific risks facing the tested individual (Novas and Rose 2000), could then be prescribed to reduce or manage that level of risk. However, as we elaborate later in this section, the ways in which the claims of genetic susceptibility testing are interpreted are extremely heterogeneous. One reason for such heterogeneity is that genetic science invokes a kind of elasticity. It blurs distinctions between objectives previously differentiated by their time horizons, such as diagnosing and treating present disease, identifying future risk, preventing illness in the future, and maximising life and vitality (e.g. Hedgecoe 2004). As Rose (2007: 107) argues, the molecular gaze creates an obligation to act in the present in relation to the potential futures that now come into view … genetics takes its salience within a political and ethical field in which individuals are increasingly obligated to formulate life strategies … and to act prudently in relation to themselves and to others. Thus ‘molecularisation’ – the notion and set of practices that envisions life to be manipulable, recombinable, alterable at the molecular level – makes possible one project of ‘optimisation’. Importantly, then, technical capacities – both potential and actual – can shape our notions of ethical practices and what it means to include an individual’s duty to optimise his or her quality of life. Elliot (2003) calls this the mandate to be ‘better than well’. The implication is that when risk is knowable then it must be known, and when it is believed to be mutable, it must be changed. At the same time, the genetic biomedicalisation of health also underscores the probabilistic nature of genetic diagnosis and treatment and prevention. That is, the identification of susceptibility genes only yields often ill-defined probabilistic estimates of the risk of developing a disease – and usually without clear timelines. Consequently, attempts to reduce the susceptibilities allegedly posed by one’s genotype (through behavioural changes, pharmacotherapy or even genetic modification, though still an unrealised potential) would at best decrease risk of disease, rather than eliminate it. They invoke notions of genetic responsibility – to ‘know and manage the implications of one’s own genome’ (Rose and Novas 2005: 441). Some social scientists have challenged the often tacit assumption that such interventions are an unmitigated ‘good’. Instead, attempts to mitigate uncertainty through the detailing of risk may in fact exacerbate fear in individuals subjected to increasing screening and surveillance (Press et al. 2000; Crawford 2004). Social scientists are also concerned about the promulgation of what Foucault called ‘technologies of the self’ – ways in which we transform ourselves to be more congruent with normative discourses and expectations (Martin et al. 1988). In relation to genetics, pathways to the optimisation of life may be eugenic in their consequences, if not their intent (e.g. Duster 2003; Taussig et al. 2003). There are complex and elaborating biopolitical and economic incentives and imperatives for identifying persons and (sub)populations at risk. This is 25
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because those at risk may themselves become objects of inquiry in the search for specific disease aetiologies (Fosket 2004), sources of basic research materials (Reardon 2004), and/or consumers of expensive, niche-marketed medical and pharmaceutical technologies (Kahn 2009). Biomedicalisation indeed! The language and logics of risk and consequent practices of subjectification are not, of course, new: physiological and other risk factors (e.g. elevated glucose, high cholesterol, precancerous lesions, abnormal cognitive health measures, etc.) have long been widely seen as targets of intervention to reduce future risk (e.g. Shim 2009; Shostak 2003). But the powerful tools and discourses of the new genetics do ‘sharpen’ collective awareness (Atkinson and Glasner 2007: 3) and raise new and contentious possibilities of biomedicalisation. These include redesign and engineering – the use of technoscience at the molecular level to alter the body from the ‘inside out’ (Turney and Balmer 2003) – to transform life itself. Franklin (2000) sees these possibilities as instrumentalising nature. She argues that what is different and powerful about contemporary biotechnologies is the unmooring of genetic information from the conventional bounds of intergenerational reproduction – a respatialisation of genealogy (also Franklin and Roberts 2006). At the same time, many scholars have pointed out that emergent relationships between public hopes and scientific expectations, between lay experience and technoscientific expertise are complicated, contested and at times surprising. For one, the notion of DNA as ‘the book of life’ (Kay 2000) and the seemingly limitless promissory potential of genomic science circulated in the public imagination and the media are not necessarily shared by genetic scientists themselves (Rapp 2003; Franklin and Roberts 2006). The very nature of ‘genetic’ is being debated within the sciences (e.g. Kelly 2007). Rose (2007: 130) uses the interesting distinction of an epistemology of depths versus surfaces in making this claim. Rather than genetics revealing a deep, inner, causal truth (a conventional historical assumption), contemporary genetics is instead beginning to conceptualise a ‘flattened world’ of complex, relayed, dynamic systems of networks of gene–gene interactions, gene–environment interactions, and highly individualised gene expression and regulation that together produce future bodily states (see also Fujimura 2005; Rapp 2003). This new and intrinsically modular conceptualisation both foregrounds the potential for manipulability and problematises deterministic assumptions. Such ‘flattened world’ conceptualisations also potentially counter some claims about how ‘deterministic’ genetic and genomic information would detrimentally transform identities (e.g. Hedgecoe 2004, 2008). Initial fears of ‘geneticisation’ were linked to not unrealistic concerns about discrimination on the basis of genetic information by employers, insurers, educational and medical institutions and the state (Lippman 1991; Nelkin and Tancredi 1994). In the US, for example, a national anti-discrimination law now prohibits health insurance companies from using genetic data to set premiums or determine eligibility and protects against genetically based job discrimination (Feller 2008). Others have focused on not unrealistic fears of negative reactions to genetic information by families, potential mates, friends, etc. (Bharadwaj et al. 2007). These debates continue, with assertions that some scholars may have overestimated the power of biomedical discourse to determine the life course (e.g. Atkinson and Glasner 2007; Gibbon and Novas 2008; Hedgecoe and Martin 2007). Another complication of genetic determinist arguments is that, as Novas and Rose (2000) argue, knowledge of genetic risk gives rise to new relations to expertise and to new conceptions of the self – the nature of which cannot be assumed in advance. At-risk individuals may or may not take up an image of the ‘genetic body’ (Turney and Balmer 26
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2003) or see genetics as ‘miraculous knowledge’ (Franklin and Roberts 2006). Recent research demonstrates that many people understand the nuances of susceptibility and predictive uncertainty, and are therefore quite circumspect in their expectations of the personal and familial benefits afforded by genetic testing (Rapp 1999; Lock 2008; Lock et al. 2006; Mamo et al. n.d.; Thompson 2005). For example, Franklin and Roberts (2006) found that patients seeking pre-implantation genetic diagnosis to prevent the birth of children with inherited genetic conditions in fact appreciated experts’ explicit acknowledgment of the limits of genetic and technological manipulation. Their relief as patients lay not in the offer of (false) promises or (unfounded) optimism, but rather in experiences of ‘trust and transparency’ with medical professionals – in the opportunity to ‘manage their own uncertainty rather than have it be managed by others’ (Franklin and Roberts 2006: 222). Interestingly, applications of genetics research have also begun to complicate the supposed one-to-one relationship between the genome and the self. To be sure, as Martin (2007: 205) has noted, ‘evidence from archives, interviews with cell scientists, and popular sources will show that, in a strange leap that has come to seem self-evident, journalists, lay people, and even scientists have come to equate genomes with selves.’ For example, in forensic science, DNA evidence typically stands in as proxy for one individual – one self. However, there is increasing use of ‘familial searching’ or ‘family forensic DNA’ techniques (Greely et al. 2006). In the BTK serial killer case in the US, a genetic sample from a suspect’s daughter was compared with crime scene evidence and led to her father’s – the murderer’s – apprehension, vividly demonstrating that DNA is indexical to not only to an individual but to kin as well. In addition, human individuals may, if rarely, contain more than one genome – through fraternal twin embryo fusion, transplantation, blood exchange during development, and twinning (Martin 2007: 206). Gene therapies will likely make such genomic multiplicity – known as chimeras – more common and raise questions about how such multiplicity should be handled. Friese’s (in review) work on nonhuman chimeras has demonstrated that the ‘nature’ of such beings is already highly contested in species conservation worlds, likely presaging parallel debates about human chimeras in the lab, the clinic, the courts and beyond. DNA is genealogical – always implicating the family, the community and/or the group – with or without its consent (Davis 2004; Nelson 2008a). As Finkler and colleagues (2003) asserted, genetics has medicalised kinship, further complicating familial identities and relations. The biomedicalising potential for human inheritable genetic modification is also being hotly debated. Popular books such as Babies by Design (Green 2007) and Enhancing Evolution (Harris 2007) extend concerns from individuals to familial design to species redesign. The ways in which ‘blood matters’ (Gessen 2008) are elaborating. And eugenic practices enter not only through the back door (Duster 2003) but also through the front (Agar 2004; Taussig et al. 2003). Overall, then, more deterministic outlooks on the impact of genetics are giving way to analyses that emphasise the networked complexities characteristic of the causal models currently used by genetic researchers, such as systems biology (Fujimura 2005). The heterogeneous and decidedly ungeneticised perspectives taken up by lay people with regard to health, disease and risk are also becoming more complicated and situated (Taubes 2007). People therefore increasingly rely upon their own embodied emotional knowledge about cause and care, upon their experiences of tinkering and experimenting with care management, and upon autodidactism as legitimate sources of expertise for 27
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managing their conditions (Epstein 1996; Novas and Rose 2000; Rapp 2003; Shim 2005). As Beck and Niewöhner (2006: 219) have argued, it is likely that ‘looping effects will emerge along different pathways between medical diagnosis, selfhood, social practice, and the body itself’. This reflects one of the larger arguments about biomedicalisation: it is punctuated by contradictions and complications of power, knowledge and social action. Thus the obligation to optimise ‘life itself’ that is also a hallmark of biomedicalisation theory in the genetics era scales up from individuals to collectivities and progresses from identity to action, as we explore next.
Genetics, health social movements and collective technoscientific identities Developments in the biosciences are also producing transformations of collective and population-level technoscientific identities that increasingly lead to the formation of ‘biosocialities’ reflecting collective interests. Such transformations of identity may be a goal of social movements – collectively working towards the ‘kind[s] of sel[ves] we want’ (Polletta and Jasper 2001: 298). Rabinow’s (1992, 2008; Gibbon and Novas 2008) concept of ‘biosocialities’ both highlighted and predicted this: underlin[ing] … the certain formation of new group and individual identities and practices arising out of these new [technoscientific] truths … These [biosocial] groups will have medical specialists, laboratories, narratives, traditions, and a heavy panoply of pastoral keepers to help them experience, share, intervene in and ‘understand’ their fate. (Rabinow 1992: 241–2) Today, patient-founded and -led organisations are becoming increasingly central in advocating, funding, adjudicating and directing and carrying out their own research, shaping conditions of possibility around their own diseases and, in turn, their identities and subjectivities (Epstein 2007b). As forms of biosociality, embodied health movements reflect how ‘life itself’ becomes the stakes and biomedicalisation the usual means of addressing them. Considerable scholarship has been devoted to these movements which take aspects of the soma as an organising principle, variously called ‘associations’ (Callon and Rabeharisoa 2003), ‘concerned groups’ (Callon 2003), ‘health social movements’ (Brown and Zavestoski 2005), patient groups and patient advocacy groups. Patient groups may not only have different relationships to the state (Epstein 2007a, 2007b), but moreover, identity and ‘patienthood’ are produced distinctively and varyingly (e.g. Nelis et al. 2007). Some health social movements were provoked by over-medicalisation, such as women’s health (Ruzek 1978) and disability rights (Davis 2006), and others by under-medicalisation, such as Black Power and some other community-based health movements (Nelson 2003). Yet others demanded further (bio)medicalisation, such as HIV/AIDS movements (Epstein 1996). Vis-à-vis genetics, technoscientific identities fuse with social action, and most genetics-oriented groups do seek (further) biomedicalisation. An ambitious array of studies has focused on these genetics-based health social movements featuring one or another facet. First, new social movement forms are emerging. Rapp, Heath and Taussig (2001) found associations formed by family members rather than (or 28
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in addition to) patients themselves, sites where hereditary abnormality, biomedical explanation and family responsibilities meet. Ganchoff (2004, 2007) examined stem cell research and politics. Instead of ‘patient activists’ sharing a single type of ‘embodiment’ or diagnosis, he found a hodgepodge coalition of ‘stem cell activists’, interestingly including ‘scientist-activists’, drawn together by the promise of regenerative treatments. Others have found emergent coalitions across genetic-disease based groups (Heath et al. 2004: 163–4). Among the most cutting edge issues is the relationship between health social movements and the production of biocapital (Rajan 2006; Novas 2007, 2008). Because body parts and/or testing may be involved, intellectual property rights may be invoked by movement organisations. (This also occurs with racial and geographic collectivities rendered as research subjects, discussed below.) For example, PXE gene patient groups have been successful in claiming property rights in their genetic materials (Heath et al. 2004: 163–4). An autism organisation maintains extensive, proprietary databases available to researchers who commit to undertaking research on the condition,8 and Huntington’s disease groups produce genealogies that then become biomedical research data (Nukaga 2002). Of course, biocapital is also imbricated by the interpenetration of health social movements with research endeavours (Epstein 2007b). Many patient groups have long contributed in various ways to research on their illnesses (Epstein 1996), most commonly by organising donations of both capital and tissue samples to be used for research purposes. Today we are seeing new forms of interpenetration such that at times the movement becomes the research organisation per se. For example, Rabeharisoa, Callon and colleagues have been studying the French muscular dystrophy association (AFM) which had an annual budget of close to 80 million euros and employed more than 500 workers – a ‘partnership model’ of patient organisation (Rabeharisoa 2003: 2130). Callon (2003) sees increasing involvement of ‘concerned groups’ in R&D policies. Such collaborations are shaping new social identities based in both science and activism and constituting new hybridities – at once scientising social movements and mobilising scientists in new ways (Callon and Rabeharisoa 2003; Epstein 1996; Hess 2004; Washburn 2009). In seeking (bio)medicalisation, there are also new forms of interpenetration of health social movements with governmental agencies (e.g. Evans, Plows and Welsh 2007). Going beyond lobbying for congressional support to deeper collaborations (Brown and Zavestoski 2005; Epstein 1996, 2007b), Rapp recently noted that the Genetic Alliance (a super-group of 600 genetic disease advocacy groups) is deeply linked with segments of the NIH’s Office of Rare Diseases (in Epstein 2007b). Activism has also led to new policies requiring the inclusion of women and people of colour in the full spectrum of federally funded biomedical research in the US, including but not limited to genetics research, with a range of intended and unintended results (Epstein 2007a). Many studies of genetic disease-based health social movements have focused on breast cancer advocacy as it increasingly encounters means of assessing the genetics of the disease in ways that have direct implications for both individual and familial decisionmaking. Fosket (2004) analysed how constructions of ‘high-risk’ women rely strongly on family trees. Parthasarathy (2007) compared the development of genetic medicine in Britain and the US in terms of generating very different toolkits for BRCA testing and how these were then used with and by women. Gibbon (2007) studied breast cancer genetics as gendered knowledge and how that knowledge was taken up in both clinics and activist research support settings. Klawiter (2008) and Brown and colleagues (2006) contrast movements that engage and refuse the issues of environmental influences on the genetics of breast cancer. 29
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Social scientists have studied movements around other diseases believed to have genetic causation. These include autism (Silverman 2008; Singh in prep.), cystic fibrosis (Kerr 2005; Wailoo and Pemberton 2006), dementia and Alzheimer’s disease (Lock 2006, 2008; Mamo et al. n.d.), epilepsy (e.g. Shostak and Ottman 2006), PXE (Heath et al. 2004: 163–4), sickle cell anaemia (Duster 2003; Nelson 2003; Fullwiley 2004; Wailoo and Pemberton 2006); and Tay Sachs (Wailoo and Pemberton 2006). Currently at the cutting edge are studies of how new forms of genetic information, such as molecular biomarkers of environmental exposure, transform ongoing organisations and biomedical controversies (Brown et al. 2006; Shostak 2004; Washburn 2009).
Identities rooted in the genetics of ‘race’, geographic ancestry and aspects of human behaviours The decoding of the human genome in 2000 established that human beings are more than 99 per cent genetically alike. At the same time, however, the computer-aided statistical analysis of genetic data has also made possible the parsing of that less than 0.1 percent of human genetic variation. Recently, such analyses have attempted to explain myriad forms of variation across social groups, including health disparities, geographic ancestry and dimensions of human behaviour. This ‘turn to between-group differences’ (Duster 2005) is both predicated upon and productive of the biomedicalisation of identity through varied processes of ‘alignment’ (Epstein 2007a). Here, we consider biomedicalisation as both a condition of possibility for and a consequence of the technoscientific identities that result from such alignments by examining varied ‘pathways of subjectification’ (Rabinow and Rose 2003/2006) produced by research on the genetics of ‘race’, geographic ancestry and human behaviour. In fields as diverse as genetic epidemiology, genealogical testing and behavioural genetics, classifications of individuals and groups based upon biomarkers (including SNPs and haplotypes) are both imbricated and co-produced with other social categories (Epstein 2007a; Fullwiley 2007a, 2007b; Montoya 2007; Nelson 2008a; Reardon 2004).9 Genetics, race and biogeographic ancestry Race and geographic ancestry are emerging as two principal categories through which contemporary biomedical genomics researchers seek to ascertain individuals’ disease susceptibilities and risk. One goal is to develop tailored interventions, including individual drug metabolism profiles data for personalising pharmaceuticals (Burchard et al. 2003). While costs of sequencing and analysing individual genomes are quickly decreasing, it remains cost-prohibitive in many contexts. Until such individual DNA susceptibility profiles are both economically and technically feasible, many scientists argue that social categories, especially ‘self-identified’ race and ethnicity, can and should be employed as an imperfect yet biologically meaningful and therefore necessary interim strategy (Risch et al. 2002: 2). These researchers claim that such a strategy has a scientific basis, as evidenced by DNA analysis with clustering software that shows several distinct human populations mapping onto common understandings of race (Risch et al. 2002; Rosenberg et al. 2002). The US FDA’s approval of the pharmaceutical BiDil in 2005 to treat ‘selfidentified’ African Americans with heart disease provides an early example (Kahn 2004, 2009). 30
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Critics of the use of social categories such as self-identified race or ethnicity in biomedical research contend that it produces a ‘tautology, both informed by, and reproducing racialised truths’ (Lee et al. 2001: 55) in which notions of human difference become a ‘feedback loop’ (Ossorio and Duster 2005), at once both input and output of genetics research (Reardon 2004). These critics position such uses of race and biogeographic ancestry as artefacts of researchers’ assumptions and techniques (Graves 2005; Duster 2005; Kahn 2004, 2009; Fullwiley 2007b). Further, they contend that such modes of knowledge production engender racialising health risks (Sankar et al. 2004) and biologising social categories (Abu El-Haj 2007). Moreover, and gravely, they argue that there is no evidence that the use of social categories in genomic research will in fact reduce health disparities or improve disease prevention (Braun 2002; Kahn 2009; Fausto-Sterling 2004), yet there are abundant possibilities that clinical assessment based on assumptions about racial identity may result in inaccurate diagnoses and inappropriate treatments (e.g. Braun et al. 2007). In contrast, genetic testing is used also by individuals who see in it the potential to reveal their biogeographic ancestry (inferences about the continental origins of one’s ancestors rendered on haplotype groups designations or a composite of ancestry ‘admixture’) and to establish their personal affiliation with specific racial and ethnic groups (e.g. Tenenbaum and Davidman 2007; Nelson 2008a). Though not directly focused on health or disease risk, this form of direct-to-consumer genetic testing may be understood as a form of optimisation – individuals seeking a better life through enhanced knowledge of themselves and their kin. However, the same markers used to discern race, ethnicity and biogeographical ancestry also may be used in medical settings to determine risk in the future. As such, genetic genealogical testing reveals how technoscientific identities ‘in a quintessential Foucaultian sense, are no longer contained in the hospital, clinic, or even within the doctor–patient relationship’ (Clarke et al. 2003: 172), but bleed into everyday life. Critics caution that such genetic genealogy testing is imprecise and may be based upon misleading assumptions because ‘there is no clear-cut connection between an individual’s DNA and his or her racial or ethnic affiliation’ (Bolnick et al. 2007: 400; also Ely et al. 2006). Other perils include the biological reification and geneticisation of race and ethnicity and the potential for these ideas to subsequently ‘naturalise’ and legitimate discrimination (Duster 2005; Abu El-Haj 2007); the displacement of traditional ways of rendering relatedness particularly among indigenous groups, with accompanying political and economic stakes (TallBear 2008); and the possibility that unexpected, deleterious impacts of this testing might cause consumers to form negative opinions about genetic screening and research more broadly (Bolnick et al. 2007). Yet users of genetic genealogy testing may find the practice personally meaningful. They are strategic and adept in their negotiation of the genetic information provided, aligning it with other sources of genealogical information (Rotimi 2003; Nelson 2008a). And these new racial or ethnic genetic technoscientific identities may spur the creation of new transnational or diasporic collectivities of ‘genetic kin’ (Nash 2007; Rotimi 2003; Nelson 2008b). Biosociality indeed! Genetics and human behaviours Behavioural genetics focuses on how genes may influence the behaviour of an organism. Traditionally, human behavioural geneticists used quantitative analytic techniques in twin, adoption or family studies (Schaffner 2006), ‘to determine how much influence genes have on a trait – in a particular population, in a particular environment, at a particular 31
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time – in comparison to the environment’ (Press et al. 2006: xxi). Increasingly, however, behavioural geneticists turn to molecular genetic techniques to search for genes underlying the heritability of specific behaviours and to identify their mechanisms (Press et al. 2006). Behavioural geneticists claim a vast jurisdiction: intelligence (Craig and Plomin 2006), sexual orientation (Hamer et al. 1993), substance use (Heath et al. 2003), mental disorders (Caspi et al. 2003), behavioural disorders (Plomin and Crabbe 2000) and, more recently, political beliefs and behaviours (Alford et al. 2005) and religiosity (Koenig et al. 2005). The field is marked by persistent controversy (Fujimura et al. 2008; Ossorio and Duster 2005) about the relevance of behavioural genetics to understanding of human agency, free will and responsibility (Alper and Beckwith 1994; Parens et al. 2006). Biomedicalisation and behavioural genetics are intertwined at several critical sites. First, behavioural genetics is predicated on identifying phenotypes defined in public discourse as non-normative behaviours and/or as social problems (Duster 2006a). As the social and health sciences extend their foci from the definition and control of illness to identification of intermediary phenotypes (e.g. biomarkers) and prevention (Lock 2006), the range of phenotypes deemed appropriate for such biomedicalisation expands. This has profound implications for the stigmatisation of persons with traits, markers for traits, or relatives who are affected (Phelan 2005). Second, and related, as genetic information is used to identify individuals ‘at risk’ of disease, and such persons are asked to know and manage their genetic inheritance, such ‘health-related behaviours’ then become attractive subjects for behavioural genetic research. For example, ‘as medical evidence of the harmful effects of smoking became irrefutable, cigarette smoking as a behaviour became reified, pathologised, and medicalised, and the genetic underpinnings of addictions to nicotine and to the addictive behaviour of smoking are sought’ (Press 2006: 143). Behavioural genetics traditionally focused on within-group differences. However, what Duster (2006a: 15) characterises as ‘the turn to between-group differences,’ may promote behavioural geneticists’ endeavours to correlate markers of genetic ancestry with socially devalued behaviours (e.g. violence, impulsivity, and addiction). Such correlations could ‘naturalise’ (Lee et al. 2001: 55) health and social inequalities, lending scientific legitimacy to invidious racial and ethnic stereotypes (Duster 2005). Another goal of behavioural genetics is the identification of molecular targets for pharmaceuticals to prevent and treat illness (Petryna et al. 2006; Press 2006: 143). This research agenda promotes medicalisation and biomedicalisation of a wide array of human behaviours and identities in the name of health. In sum, the creation of new genetic categories of identity, whether based on disease risks, geographic ancestry or predispositions to specific behaviours, provides the basis for novel categories of personhood (Wailoo 2003; Wailoo and Pemberton 2006; Dumit 2003). Such identities may be imposed upon individuals through medicalisation and biomedicalisation. These identifications and subjectifications produce negotiations among scientists, the state and lay actors (individual, collective and possibly scientised) who all have stakes in the ‘politics of difference’ and biomedicalisation (Epstein 2007a; Venkatesan 2007).
Conclusions: genetics and the biomedicalisation of health, disease and identity In sum, a new generation of scholarship is now coalescing around the shared assertion that the very grounds of ‘life itself’ are changing. Biomedicalisation is one key set of processes through which such changes are enacted – transforming bodies, identities and lives 32
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through technoscientific interventions focused not only on amelioration and cure, but also on optimisation and enhancement. The new genetics and genomics offer powerful biomedicalising techniques manifesting the shift from the clinical to the molecular gaze (Rose 2007). The biomedicalising approaches associated with attempts to identify, test for and intervene in genetic risk offer a new ‘style of thought’ (Fleck [1935] 1979; Rose 2007), a new imaginary (Franklin 2000) and emerging practices central to biomedicalised ‘healthscapes’ (Clarke 2009a). They are consonant with contemporary neoliberal emphases on individual responsibility, self-governance and a prudential approach to controlling and transforming one’s future. At this moment, genetic and genomic interventions are still largely in the realm of potentialities (Conrad 2007). As Rapp (2003: 142–3) notes, because ‘laboratory life cycles’ are decades long, ‘genomic knowledge has produced little that is life-extending, whereas the old-fashioned clinical gaze has produced quite a lot’. But this situation is changing rapidly. If not yet gene therapies, biomarkers are important new developments for the assessment of susceptibility identities, prevention of disease and the promotion of well-being. Given how genetics/genomics seem to explode or at least tamper with prior assumptions about temporality and predictability, especially through discourses of risk, the old clinical distinction between diagnosis and treatment seems increasingly fragile and tenuous. The anticipations and demands of technoscientific possibilities intervene in how we think of our identities, bodies and lives – individually and collectively – and long before they can be implemented (Adams et al. 2009). The conditions of possibility opened up by genetic biomedicalisation allow – indeed promote – the imagination of possible new lives through the molecular gaze. But, with Rabinow (2003: 14), we do not see these changes as ‘indicating an epochal shift with a totalizing coherence but rather as fragmented … changes that pose problems’. Moreover, the plethora of possible genetic futures also engenders resistances and countermovements to biomedical (e.g. stem cell research) as to agricultural (e.g. genetically modified foods) innovations (Clarke et al. 2009). Contingency is rife, negotiations are ongoing. Biomedicalisation theory is useful for understanding the myriad ways that genetics and its social and organisational infrastructures and cultural imaginaries are co-constitutive of the genomics revolution – constraining yet also transforming, enabling and enhancing it. Biomedicalisation thus serves as useful a framework for the chapters that follow.
Notes 1 We focus on what today is best termed biomedicine. On the problematics of such definitions, see Clarke (2009b). 2 On biocapital, see Thompson (2005), Rajan (2006) and Novas (2007, 2008). 3 Epstein (2007a) discusses the shift in NIH-funded research and treatment protocols since the early 1990s from assuming a ‘standard human’ to ‘niche standardisation’ based on race, gender and other markings of ‘difference’. 4 The term ‘technoscience’ indicates that science and technology should be regarded as co-constituted and hybrid (Latour 1987). 5 We have tried to distinguish genetics (genes, their function, roles, testing for, etc.) from genomics (the study, identification, analysis of the entire genome and/or its response to environmental factors/gene expression, etc.). However, such distinctions can be challenging and the terms are often used interchangeably, if wrongly so. The term ‘genomics’ was coined by McKusick and Ruddle (1987) to launch a new field and journal, emphasising ‘a marriage of molecular biology and cell biology with classical genetics … fostered by computational science’. See also Hauskeller (2004) and http://publications.nigms.nih.gov/thenewgenetics/
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6 Strauss (1959) and Goffman (1963) pioneered the study of negotiated and stigmatised identities. 7 ‘Sociotechnical networks’ or webs refers to how technologies and the people producing and using them are inextricably enmeshed, inseparable and often indistinguishable – hybrid (Bijker et al. 1987). 8 The advocacy group Cure Autism Now initiated and funded the Autism Genetic Resource Exchange (AGRE), a DNA repository and family registry, housing a database of genotypic and phenotypic information of over 900 families available to eligible autism researchers worldwide. See www.agre.org/program/intro.cfm?do = program 9 See the American Anthropological Association’s online exhibition on race: www.aaanet.org/ resources/A-Public-Education-Program.cfm
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4 Stem cells, translational research and the sociology of science Steven P. Wainwright, Clare Williams, Mike Michael and Alan Cribb
We begin this chapter by providing a brief overview of, first, social science research on stem cell science, and second, on social studies of translational research (the shift from ‘bench to bedside’). Drawing upon recent sociological research in the three domains of ethics, expectations and boundaries we illustrate some of the interconnections between human embryonic stem cells and the lab–clinic interface. We conclude with a discussion that examines the potential of a Bourdieusian framework for research on ‘stem cell translation’ in particular and for science studies more broadly.
Stem cells and social science It is argued that stem cells have huge potential in the field of regenerative medicine and bioengineering as, in principle, they hold the capacity to produce every type of cell and tissue in the body. Over the last decade stem cell biology has become one of the most rapidly developing areas within the life sciences (Lanza et al. 2004) with proponents contending that stem cells promise a medical revolution in the treatment of diverse degenerative diseases such as Parkinson’s disease and diabetes (Scott 2006). There is now a growing social science literature on the stem cell field. For example, Sarah Franklin has written several papers that link the emergence of stem cell research with her longstanding social research interests in the embryo and IVF (Franklin 2001; Franklin 2005). The development of the legal and policy framework on ES cell research in the UK has also been reviewed by several sociologists, who have drawn upon documentary sources (e.g. Parry 2003; Hauskeller 2004). Another major theme is the prospect for the development of what Waldby describes as ‘tissue economies’, where the commercial (and resulting ethical) potential of stem cells is the main analytic (Waldby 2002; Glasner 2005). In all this work, there is a strong emphasis on the historical dimension of stem cell research, and this ‘stem cells as cultural history’ approach is exemplified by Cooper (2004) in her discussion of stem cells and monstrosity. Another variant on this theme is used in framing ‘the stem cell debate’ in terms of ‘Frankenstein science’ which has been highlighted in research exploring media representations of the development of human Embryonic Stem Cell (hES) research in the UK (Williams et al. 2003; Kitzinger and Williams 2005). 41
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The UK ESRC Stem Cell Initiative (SCI) (2004–9) has funded a series of social science research projects that explore the barriers and opportunities critical to the development of embryonic, foetal and adult stem cell research and (perhaps eventually) treatment. The range of topics being addressed within the social science stem cell field include: stem cell and alternative treatments for specific illnesses; an examination of the prospects for stem cell research and treatment, including the scientific, medical, social, policy, ethical and commercial implications; how knowledge and innovation cross institutional/academic/commercial boundaries; and the potential global commodification of stem cells, tissues and organs. By mapping the range of meanings attributed to stem cells, social research is extending understandings of how narratives about stem cells are produced, resisted, negotiated and accommodated. Two special journal issues on the social science of stem cells report on this recent research: New Genetics and Society (Eriksson et al. 2008) and Science as Culture (Geesink et al. 2008). Key themes within these special issues include standards and regulation, ethics and publics, and translational research, and we highlight aspects of this work below. Standards and regulation are explored in relation to both the UK Stem Cell Bank and the International Stem Cell Initiative (ISCI). Webster and Erikson (2008) analyse the way standards have emerged, the difficulties in stabilising them and the management of uncertainty in diverse regulatory spaces needed to oversee the eventual clinical application of hESC. They also argue that to standardise hES cells is an exercise in standardising different kinds of unknowns (Erikson and Webster 2008). In the ISCI scientists in a fiercely competitive field are prepared to exchange research material and data that would normally be highly confidential. ISCI participants standardise a particular unknown so that their collaborative work will serve to move the field forward and thus enable both competition and comparable data. In contrast, Stephens et al. (2008) examined the UK Stem Cell Bank, which takes donations of ethically approved stem cell lines, tests them, grows larger stocks, and redistributes the material internationally. The Bank enacts a particular future vision of stem cell science and its strategies involve a complex temporal interplay: securing accounts of the past (both technical and social), while validating the regulatory legitimacy of the present and protecting the future through developing trust, social networks and wider public legitimacy in the Bank’s work. These issues of global governance are analysed from a political science perspective by Salter (2008) who argues that stem cell science is a volatile political arena where the emerging economies of China and India are introducing policies designed to improve their global competitive position in this field through their distinctive contribution to the dynamics of the global political competition. Several papers have explored the themes of ‘ethics and publics’. For example, Sleeboom-Faulkner (2008) studied debates on hESC research in Japan, a country with no cultural canons forbidding this and where a debate on the status of the embryo would appear irrelevant. However, such a debate is considered crucial to science policy-makers in Japan but is monopolised by the voices of only a few social groups such as the AntiEugenic Network and the Japanese Association for Spinal Cord Injuries. These interest groups capitalise on the hopes placed on hES research in promoting financial and political support, at the same time as they aim to cure disease. In a European context Rubin (2008) explores how the quest for therapies has rendered the human embryo accessible: first as an object of experimental manipulation, then of public debate, and finally as the subject of regulation. This therapeutic promise has enabled a reorientation of hES cell research towards medical applications, has guided public debate and has been enrolled as a legal norm. Another European study by Haimes et al. (2008) explored the views of 42
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those asked to donate embryos for hES cell research in the UK and Switzerland. In both countries there was an inextricable entangling of the social and moral status of embryos. Since donors participate in different discursive domains and contexts (public, clinic, family) that shape their perception of ‘what’ an embryo is, their views of embryos embody conflicting ideas and ambivalences. Kotchetkova et al. (2008) compare focus group data on perceptions of stem cell research with survey based representations of public opinion. They argue that qualitatively informed social science can contribute to public debate in ways that go beyond the quantification of ‘pro’ and ‘anti’ positions survey research often appears to encourage. Research examining the area of translational research has focused on topics such as cord blood, haematopoietic and embryonic stem cells. Martin and colleagues (Martin, Brown and Turner 2008) explored the commercial development of umbilical cord blood stem cell banking, particularly the way firms seek to commercialise cord blood as a new set of commodities; the expectations and moral economy that are being constructed around this technology; and how firms are acting as mediators of hope in what might be called a ‘promissory bioeconomy’. In a second paper this team examined translational research and the making of haematopoietic stem cells (Martin, Brown and Kraft 2008) arguing that rather than this being a tale of ‘bench to bedside’ it is actually a 50-year historical story of the shift from bedside to bench. Finally, Wainwright and Williams (2008) developed a geography of science framework to examine the social, scientific and medical dimensions of human embryonic stem cell research. Drawing on Livingstone’s (2003) approach to geographies of science as ‘sites of speech and locations of locution’, they explore the spatial shaping of science and the scientific shaping of space in the field of stem cell research as a potential cure for Type-1 diabetes. In the next section, we expand on the nature of translational research and outline some key social science studies on this domain.
Towards a social science of translational research The interaction between bench and bedside, or translational research, is an increasingly important topic in biomedicine that is strongly shaping the biomedical research agenda of both the Medical Research Council (MRC) in the UK (Medical Research Council 2004) and of the National Institutes of Health (NIH) in the USA (Zerhouni 2003). The key thrust of translational research is that work in the laboratory is translated as quickly as possible into effective treatments in the clinic, thereby bringing benefits to patients and to society in general. Translational research entails encouraging the systematic translation of the best basic science methods and findings into research designed to reduce the burden of disease, together with the development of novel therapeutic and diagnostic approaches (Sartor 2003). Translational research is often seen as bi-directional, working from the bench to the bedside and from the bedside to the bench, and this characteristic means that it is an innately collaborative enterprise (Marincola 2003). However, the concept of translational research is a recent phenomenon and there is a dearth of social science literature specifically on this topic. Social scientists have conducted a number of seminal ethnographic studies of laboratory life that are central to the overlapping disciplines of sociology, anthropology, and science and technology studies (STS) (e.g. Latour and Woolgar 1986; Rabinow 1996). There is also a strong tradition of qualitative social research on the nature of clinical medicine (see Atkinson 1995; Lock 2001). While there is a plethora of ethnographies that focus on either the laboratory or the clinic, few social research studies have 43
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examined both the bench and the bedside. Examples of this approach have explored the culture of clinical experimentation in oncology (Lowy 1997), the nature of arthrosclerosis (Mol 2002) and pharmacogenetics in the clinic (Hedgecoe 2004a). These studies do not, however, focus specifically on the interactions between bench and bedside. In contrast, much of our recent research has explored these interactions, specifically in relation to the use of stem cells as a potential cure for diabetes (Wainwright et al. 2006a; 2006b; 2007; 2008; Wainwright and Williams 2008; Williams et al. 2008; Michael et al. 2007; Michael, Wainwright, Williams et al. 2007; Cribb et al. 2008). The prospects for a new era of regenerative medicine built on hES cell technologies is invariably based on a linear model which sees stem cell science leading to cell transplant medicine. In Figure 4.1 we contrast this approach with an outline of a four-stage model of translational research (from molecules/genetics, to animal models, to experimental medicine, to clinical trials) as a prelude to our review of some of the complexities of this rhetorical ‘health research pathway’. In the rest of the chapter we discuss the problems within and between basic science and clinical medicine and highlight the social complexities of the ‘translational pipeline’ through a discussion of elements of our research on the ethics, expectations and boundaries that are characteristics of the field of stem cell translational research.
Reflections on the ethics of embryonic stem cells and translational research Although innovative technologies may have the potential to diagnose, treat and possibly even prevent illness and disease, they concurrently raise new risks that highlight a set of
Figure 4.1 From bench to bedside: towards a social model of translational research?
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important questions linking social studies of medical and scientific technologies with debates around the ethical, legal and policy dimensions of innovative but controversial biomedical practices (Williams et al. 2002). These technologies are redefining the scale, scope and the boundaries of science and medicine, and the relationship between biomedical technologies, science and the social (Brown and Webster 2004). Within this emerging context, scientists must nevertheless demonstrate their commitment to ‘ethics’ as the audiences of science include various public and regulatory constituencies who, in one way or another, lend the whole bioscientific enterprise legitimacy. Many of the social science papers that touch on stem cell ethics draw upon analysis of documentary sources (e.g. Franklin 2001; Waldby 2002; Kerr 2003; Parry 2003; Cooper 2004; Franklin 2005). In contrast, our own research examined the views of laboratory scientists and transplant clinicians on the ethics of biomedical science research using embryonic and foetal stem cells (Wainwright et al. 2006a), and on the ethics of translational research (Cribb et al. 2008). We add to the relatively few sociological and anthropological studies which explore the ways in which ethical dilemmas and reasoning occur in the clinical setting (e.g. Anspach 1993; Williams 2005) and to an even smaller body of work, exploring scientists’ views on the ethical issues relating to their research (e.g. Michael and Birke 1994). Such studies contrast with the dominant, disembodied ways in which ethical reasoning is traditionally presented in philosophical bioethics (Haimes 2002; Hedgecoe 2004b) and in philosophical science ethics (Resnik 1998). Ethical boundary-work Building on the concept of boundary-work (Gieryn 1983) we introduced the notion of ‘ethical boundary-work’ to analyse how scientists involved in hES cell science practice ethics in the lab (Wainwright et al. 2006a). Gieryn (1999) outlines the ways in which scientists defend their intellectual territory and how the demarcation of science from non-science works to maintain an image of expertise, authority and credibility. We extended Gieryn’s work, exploring how scientists also present themselves as ethical, as well as expert, actors by drawing the boundaries of ethical scientific activity. We discussed three key issues: what individual scientists themselves view as ethical sources of human embryos and stem cells; their definitions of human embryos and stem cells; and how scientists perceive regulatory frameworks in stem cell research. These dimensions of laboratory practice are all examples of what we describe as ‘ethical boundary-work’. Practical ethics here took the form of a number of choices over how to conduct oneself in a complicated political, moral and scientific context and such choices include deferral to regulatory frameworks. Ethical boundary-work took what, from Gieryn’s perspective, were unexpected forms. For example, we found that such boundary-work served to differentiate among scientists, enhancing the authority of what was represented as ‘non-science’ (e.g. regulatory bodies) and de-privileging science through deferral to regulatory frameworks. All of our scientists argued that the UK provided a well-regulated environment in which to undertake foetal and hES cell work. This regulatory environment acted as a legitimating framework against which, and through which, scientists were able to present their own personal accounts. For example, clear guidelines and strict rules were seen as enabling scientists to pursue their lab work. The boundary being drawn here is between science and regulatory institutions whose ethical imprimatur our respondents used to justify their activities as ethical. In comparison to our respondents’ boundary-work, we could argue that 45
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senior scientists themselves shape such imprimaturs, in that they are a fundamental part of the making and implementation of the regulations (Jasanoff 2005). In other words, the differentiation between science and regulation is itself an accomplishment, partly enacted through the boundary-work we witnessed. When we document aspects of the ethical boundary-work scientists undertake, what precisely are we witnessing? Most obviously, we are observing the delineation of a positive ‘ethical space’ which scientists can occupy – a space which signals both ethical reflection and rectitude. The rectitude is largely underpinned by reference to the formal legal and ethical framework that defines and allows ‘ethical science’, but it is also signalled by the reflection itself, by preparedness – at least in many cases – to venture into ethical argumentation and thereby enter the foothills of normative as opposed to merely conventional ethics. Ethical boundary-work of scientists involves working across a dichotomous and even contradictory terrain. It means maintaining the distinction between ‘real science’ and ‘associated ethics’, while at the same time incorporating ethical acceptability into the heart of the scientific work. It means both owning the ethical issues as a sign of responsible and thoughtful engagement in a highly contested domain, whilst concurrently devolving ethics to authorities outside science, especially those charged with regulation. Ethical positions As an approach to the sociology of translational ethics we have also explored these implicit themes of ‘embodied ethics’ through the notion of ‘ethical positions’ to illustrate some of the medical, scientific and ethical dilemmas involved in experimental translational research/treatment (Cribb et al. 2008). Using the example of stem cell science to illuminate the uneven ethical terrain of translational research, we examined how roles shape ethics. Translational research entails work done inside and across role positions that are constructed within, and defined by, the differentiated ethical spaces of the scientific and the clinical. The ethical positions and ethical burdens of doctors and scientists are institutionally produced and translational research, by its very nature, depends upon processes that transcend the ethical spaces of science and medicine. The case of translational research enabled us to investigate the ways in which stem cell researchers ‘assume’, ‘share’ and ‘refer’ ethical responsibility. We addressed some of these issues around the shaping of ethical positions in relation to the theme of the clinical and scientific positions on experimental treatment. Applying science is not, as it is sometimes conceived, a move from ‘theory’ to the ‘thorny ethics of practice’. Rather it is series of negotiations and collisions between value fields in which ‘thorns’ are everywhere present. The distance between the scientific and the clinical are reflected and refracted in the distance between the bench and the bedside. This distance is constructed in our interview data simultaneously as ‘a huge gulf’ and as ‘tremendous potential’. Applying stem cell research, or thinking about ‘what works’, means recognising the multiple senses and layers of what counts as ‘working’. Although both the scientists and the doctors we interviewed were clear about the challenges of making stem cell research clinically relevant and effective, there was a rather different emphasis to their concerns about this process. The role position of scientists was oriented towards the horizon of scientific knowledge, whereas the role position of doctors was sharply defined by the immediate presence of patients and the demands of clinical relationships. These findings chime with the research of Renée Fox where, in fields like organ and cell transplants, it is doctors 46
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who have embarked on ‘experiments perilous’ (Fox 1998) as they have had ‘the courage to fail’ (Fox and Swazey 1992). This ethos, of making bold decisions about potentially life-saving treatments, can become part of the disposition set of the transplant surgeon. However, doctors recognised that cure, especially with novel treatments like cell transplants, was often not currently possible. There was also, among many of the doctors, the associated recognition that offering such experimental treatments was much more ethically complex. Among the scientists we spoke to there was a high level of scepticism, and some consternation, about the ‘rush’ to experimental treatment in some areas of stem cell research. For example, one eminent ES cell biologist in the US described the clinicians engaged in ‘stem cell trials for heart disease’ as ‘third-rate scientists, misled by bad data’, highlighting the differences between the ‘internal’ imperatives of science and medicine – the imperative of finding treatments versus the imperative of validating truth claims.
From bench to bedside? Expectations and the field of stem cell translation Translational research implies an orientation towards the future. Scientists and clinicians are able to articulate a variety of narratives – both positive and negative – about the translational research process (Wainwright et al. 2006b). As Brown and Michael (2003) have shown, such accounts or discourses reflect upon not only the prospects of translational research at the moment of providing the account, but also upon prior expectations about such prospects. In other words, scientists and clinicians are able to situate translational research in the broader context in which past expectations (and their accuracy or otherwise) colour current expectations (Kitzinger and Williams 2005). In referring to such talk in terms of discourses, narratives and accounts, we treat it not so much in terms of what it ‘represents’ (the past, current beliefs) as in terms of what it ‘does’. Following various writers on discourse and social constructionism, we regard discourse as ‘performative’ in the sense that these utterances aim to change the state of the social world, not least by affecting those to whom they are addressed (Gilbert and Mulkay 1984). Hence, as a rhetoric of the future, ‘bench to bedside’ discourse enacts a particular present in order to realise a particular future (Brown et al. 2000). In what follows we unpack a number of discourses that construct expectations about the trajectory from bench to bedside. As we shall see, these are concerned with collaboration between scientists and clinicians, and what might be seen as the most productive approaches to creating ‘disease-in-a-dish’ hES cell lines. What emerges is a complex tapestry of discourse in which social and technical expectations interdigitate as scientists attempt, on the one hand, to ‘withdraw’ from, or be critical about, approaches to translational research, and on the other, to promote the process of translational research in order to allow at least some versions of what counts as translational research to flourish in the future. Expectations and the two cultures The recent upsurge in global funding for stem cell research is largely premised on the promise of translating scientific understanding of stem cells into regenerative medicine. In this section we draw on the theme of the institutional influences on interactions between scientists and clinicians (Wainwright et al. 2006b). We also describe some of the ways in which the cultural divide between clinicians and scientists may potentially be overcome 47
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by, for example, promoting mutual respect and a willingness to ‘learn’ an alien scientific or clinical language, which can result in a more collaborative approach to translational research. We argued that the gulf between the humanities and the sciences, C.P. Snow’s two cultures (1993), is reflected in a similar divide between the different social worlds of medicine and biomedical science (Wainwright et al. 2006b). In terms of the scientists we interviewed, their views of clinicians reflected the perceived intellectual differences between the scientific pursuit of rigorous experimental research, and the more ‘black box’ approach of medicine, where improving patient outcomes is often seen as more important than unravelling mechanisms (Hedgecoe 2004a). This view reflects the world of immunology where social scientists also noted a marked difference between the culture of the lab and the clinic (Lowy 1997; Keating and Cambrosio 2003). Such accounts are performative, serving to enact the (im)possibility of collaboration grounded in institutional differentiation. If medical schools are presented as more hierarchical and practice-oriented, and research communities as more meritocratic and theory-oriented, then expectations of collaboration become diluted (though there is also a mutual capacity for collaboration). For instance, at one of our main study sites there was reciprocal interaction between a fledgling islet cell transplant programme, an embryonic stem lab and a beta cell lab. The beta cell lab received cells from both the ES cell lab and the clinical islet cell transplant programme and also acted as a conduit for the prospects of embryonic stem cell science having an impact on future diabetes treatments. As one scientist summed up, this represented; ‘a very fortuitous alignment of people’ (UK scientist). We found mutual respect and a willingness to learn ‘another language’ to be key factors in promoting multidisciplinary research between scientists and clinicians. Scientists found it easiest to interact with medics who saw themselves as ‘clinician–scientists or scientist–clinicians’. One way in which clinicians and scientists could be successfully brought together was when they both felt they could gain something from the interaction and meetings were seen as one forum where interested scientists and clinicians could discuss the prospects of translational research. Such reciprocal interactions between the bench and the bedside have become a feature of the working lives of the scientists and clinicians we interviewed. For clinicians running the islet cell programme, the biological expertise of the beta cell lab could be usefully employed on the islet cells which now flow to this lab as part of the clinical research programme. This lab then returns potentially valuable data back to the clinicians in a self-reinforcing loop between bench and bedside. In other words, the great divide between clinicians and scientists can potentially be overcome. Collaboration was possible for a number of reasons – accidental colleagues, instrumental interests, institutional proximity. Moreover, the more the institution can successfully be portrayed as a domain of collaboration, the more it will attract researchers and clinicians who want to collaborate, the more the institution can profitably be depicted, and so on. Expectational capital The emergence of new expectations of pharmaceutical approaches in hES research has recently been explored through the concept of ‘expectational capital’, focusing on the ‘disease-in-a-dish’ approach, where hES cells will be used as tools for unravelling the mechanisms of disease to enable the development of new drugs (Wainwright et al. 2008). This different range of expectations assumes that the whole ‘cell transplant approach’ to translating stem cell into therapies is highly problematic, indeed wrongheaded. Indeed, 48
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many of the scientists we spoke with argued that stem cells should be used as tools to study potential new drug therapies rather than as cell therapies in their own right. What is striking here is that a new set of expectations is being generated for what is, essentially, an untried approach. The assumption is that scientists will unravel the genetic mechanisms of disease, that they will change these through (say) genetic engineering, and that they will design drugs that work on particular ‘pharmaceutical targets’ within cells. Such a shift from basic bioscience to medical technologies is, however, something that can only be delivered in the (promised) future. In principle, there are at least three major ways of producing such ‘disease-in-a-dish’ stem cell lines but each is difficult and contested. First, it is possible, in principle, to use somatic cell nuclear transfer (SCNT), often referred to as ‘therapeutic cloning’. However, using SCNT in hESC research is pioneering ‘science in the making’, leading a US scientist respondent to argue that the whole point of doing such ‘cutting-edge science’ is to focus on difficult problems where the prospects of scientific success may be small, but where the scientific and clinical rewards are huge. A second potential approach to creating ‘disease-in-a-dish’ hES cell lines is to use the highly successful genetic engineering techniques that enable molecular biologists to create ‘animal models’ of disease. However, one problem with this genetic engineering approach is that you need to know the gene(s) to ‘knock-in’ to produce a particular disease. Third, ‘disease-in-a-dish’ hES cell lines can be derived from waste pre-implantation genetic diagnosis (PGD) embryos affected by a genetic condition (Pickering et al. 2005; Williams et al. 2008). However, the PGD approach is itself seen as flawed by, for example, proponents of the genetic engineering approach who argue that PGD fails to accommodate broader scientific principles of rigorous experimental practice. As we might anticipate, the newer expectations around ‘disease-in-a-dish’ approaches have themselves been open to criticism. It is easy enough to regard such accounts about the future pharmaceutical prospects of stem cell research as a matter of ‘painting targets around arrows’. In other words, the arrow of the expectations of using hES cells for transplant therapies seems to be falling short of the target. By arguing that the arrow of therapies should be the new target of ‘disease-in-a dish’, hES scientists and clinicians can claim that expectations of future treatments are now grounded in what has been accomplished through, for instance, the production of Cystic Fibrosis hES cell lines from PGD. Alternatively, one can criticise such expectations in terms of their lack of grounding in a rounded knowledge of the disease that extends beyond its reductionist ‘manifestation’ in the dish (Cribb et al. 2008).
Embryonic stem cells, boundary-work and boundary objects Our third area has elements of the two previous sections in that expectations and boundaries are a key part of our analysis. Here we examine scientists’ genetic discourses and practices as examples of changing expectations on hES cell therapy for diabetes (Wainwright et al. 2007). Our research focused on the genetic manipulation of stem cells to make specialised beta cells as a potential cure for diabetes. We found boundary-work to be a productive means of analysing boundary crossings and shifting criteria of efficacy in the landscapes of expectations around new stem cell technologies. We argued that initial expectations of a revolution in regenerative medicine have been damped down by the difficulties of making insulin-producing beta cells from ES cells. The consequent 49
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shifts in expectations and the institutional/academic pressures to progress have led to the emergence of other more radical experimental strategies (such as using oncogenes) in the search for potential cures for Type-1 diabetes. In what follows we also elaborate on the concept of boundary objects in our analysis of the similarities and differences, and the separation and joining, of the social worlds of embryonic stem cells and PGD. Boundary-work Boundary-work entails both the demarcation of science from non-science, and the differentiation of ‘good’ from ‘bad’ science (Gieryn 1999). Here, however, we employ boundary-work to describe how scientists in the field of making beta cells from ES cells distinguish ‘more productive’ from ‘less productive’ ways of doing science (Wainwright et al. 2007). We argue that this sense of progress is ‘driven’ by two interrelated elements: first, framing research as contributing to translational research (so basic research is described by scientists as offering a key first step on the ‘march’ to the clinic); and second, framing research as publishable contributions to basic science. We identified three major themes associated with the role of ‘genetics’ in changing expectations about the ‘productivity’ of making beta cells (see Figure 4.2). First, attempts to mimic embryonic development in vitro whereby the manipulation of growth factors is assumed to trigger key genetic changes as cells are ‘directed’ on a pathway from ES cells to beta cells (e.g. Lumelsky et al. 2001). Here, changing the environment the cells are cultured in encourages genetic changes and differentiation within these cells. Second, attempts to genetically bioengineer ES cells to beta cells by inserting insulin promoter genes into ES cells (e.g. Blyszczuk et al. 2003). Third, the shift to a more radical scientific approach in which beta cells themselves are made ‘stem cell-like’ by genetic engineering using oncogenes (cancer genes, which cause the self-renewal of cells, e.g. Narushima et al. 2005). The field of transforming embryonic stem cells into beta cells is thus characterised by three ‘successive’ techniques which have produced ground-breaking papers on ‘stem cell translation’ as scientists have moved from ‘shake and bake’ (2001 onwards); to genetic modification of stem cells (2003 onwards); to engineering beta cells with oncogenes (2005 onwards). Scientists’ accounts of these distinct research programmes illustrate how boundary-work is practised in relation to what counts as more or less productive science. Our research on stem cell scientists’ narratives, practices and expectations on ‘making beta cells’ shows how ‘science in action’ is produced and resisted in ‘science in the making’ (Latour 1987). Hence our account differs from Gieryn’s more historical approach to boundary-work (Gieryn 1999). For Gieryn, boundary-work is primarily a rhetorical strategy that has real social consequences as it differentiates ‘science’ from non-science. We have argued that crossing the scientific boundaries of Figure 4.2 has enabled scientists to claim that they are making progress both in terms of performing productive science and in producing cells that may be potentially clinically useful. To be sure, these strategic shifts are driven by pressures within science to be productive, to explore alternative scientific routes, etc., and by various pressures from other elements of society such as clinicians and patient groups who would like stem cell therapies (Kitzinger and Williams 2005). Boundary objects We have also explored human embryos as boundary objects in reflections on the biomedical worlds of embryonic stem cells and PGD (Williams et al. 2008). We drew on two 50
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Figure 4.2 Boundary work, boundary crossings and the lab–clinic interface: from stem cells to cell transplants for diabetes?
ethnographic studies of the social practices of PGD and hES cell science to examine the notion of boundary-objects as an approach for understanding the social construction of embryos. We analysed the ways in which human embryos have similar and different meanings in the related social worlds of hES cell and PGD labs through a discussion of two major themes: the goals of PGD and hES cell labs, and linking the worlds of hES cells and PGD. We suggest the interface between the two cultures of PGD and hES cell science can facilitate the flow of concepts, skills, materials, and techniques within and between these two social worlds. The concept of boundary objects was developed by Star and Griesemer (1989), in a seminal paper about the development of the Berkeley Museum of Vertebrate Zoology in California. Their central question was: ‘How do members of different social worlds build a museum collection despite their different viewpoints and agendas?’ The term ‘boundary object’ therefore describes the shared understandings and the collective actions which help to manage and unite related but different social worlds. The notion of boundary objects has been widely used by social scientists as a way of framing the material and conceptual intersections of social worlds (Glasner 1998) in diverse areas including the links between cancer cell biology and genetics (Fujimura 1992) and genetic counselling (Featherstone et al. 2006). By conceptualising embryos as boundary objects we begin to grasp how they are decontextualised and re-contextualised within and between the ‘two cultures’ of ESC and PGD labs. Embryos are sometimes different things to scientists in ESC and PGD labs as; ‘the knowledge, skills and expertise of the respective groups are different and are brought to bear on different objects’ (Featherstone et al. 2006: 40). We can multiply and extend these differences if we expand social worlds to include those of adult stem cell scientists, clinicians in IVF and regenerative medicine, patient groups, opponents of hES cell research, and so on (Scott 2006). However, our goal was more modest and we focused on how two disconnected 51
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groups of scientists became two partially interconnected groups, illustrating how the productive relation between these different sites allows scientists to both co-exist and collaborate. The development of the embryo as a boundary object ‘enabled’ hES cell research and what were once ‘waste’ PGD embryos (i.e. affected by a genetic condition such as Huntington’s disease) to become valuable ‘disease-in-a-dish’ hES cell lines, thereby partially ‘disabling’ the destruction of a number of these embryos as waste. In addition, boundary objects also enable the movement of similar and different meanings and things within and between different settings. Embryos became different things and had different meanings as they circulated within and between the worlds of PGD and hES cell labs. Until a few years ago our PGD lab focused on developing PGD as a clinical service, while our ES cell lab specialised in neuroscience research using animal embryonic and foetal stem cells. In other words, the embryo only emerged as a translational boundary object relatively recently when the two social worlds of PGD and hES cells became an arena of shared discourses and practices. Here, embryos act as translational boundary objects which unite disparate actors in a common purpose: the creation of hES cell lines. Boundary objects act like anchors which help moor participants within different social worlds; while what we describe as translational boundary objects act as bridges which allow the growth of scientific trade between different and yet similar social worlds. These different worlds established protocols which went beyond the mere trading of embryos across unjoined boundaries. Rather, they began to devise a common world which made possible new kinds of enterprises, such as the creation of hES cell lines.
Discussion We hope our three examples of social science research on stem cell translation begin to flesh out some of the ways in which sociology and science studies is contributing to empirically grounded theoretical debates on the nature of ethics, expectations and boundaries in contemporary biomedicine. Our research on ethics adds an ethical dimension to the seminal studies of laboratory life that are central to science and technology studies (e.g. Latour and Woolgar 1986; Rabinow 1996). By developing and extending Gieryn’s concept of boundary-work we have begun to articulate a view of boundary-work, and ethical boundary-work in particular, as more performative than that originally envisaged (Ehrich et al. 2006). By analysing the ways in which ethics is embodied in and mediated by what we have called ethical boundary-work and ethical positions we have contributed on an analytical and empirical level to the development of a sociologically informed ethics of biomedical science (Zussman 2000). For if we are interested in understanding the ethics of stem cell research – or anything else for that matter – we need to pay close attention to the commitments, deliberations and choices of individuals as they navigate difficult fields. But at the same time we need to pay equally close attention to the conditions which help structure these stances, deliberations and choices. Thus the construction of role positions in ethics is not merely important from a descriptive or explanatory point of view, it is central to substantive ethical analysis and appraisal. Unless we understand the social construction of ethical positions, and the divisions of ethical labour thereby produced, we will be unable to sensibly understand or attribute responsibility, or make judgements about what is defensible, or make informed recommendations about how things might be done better. If normative positions in philosophical bioethics are to have any purchase then they have to be socially embodied, institutionally enacted and ‘peopled’ (Cribb 2005). 52
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In our expectations section we have emphasised the performative nature of expectations which distances scientists from ‘over-expectations’. This extends other sociological research on science where ‘distance (from laboratory experiments) lends enchantment’ (Collins 2004). In other words, distance raises expectations as bench science is viewed through a (relative) ‘veil of ignorance’ (MacKenzie 1990; Brown and Michael 2003). Scientists weave a complex tapestry of expectations (Brown et al. 2000; Kitzinger and Williams 2005), and we drew a distinction between the warp of discourses which enact the improbability of collaborations between bench and bedside, and the weft of other discursive strategies which enact the possibility of collaboration between the lab and the clinic. Moreover, we highlighted ways in which scientists are torn between identifying and promoting collaboration on the one hand, and not over-selling the prospects of translational research on the other hand. The complex cloth of translational research is a difficult thing to keep from unravelling, as our scientists seemed only too aware. What helps hold this cloth together is a tempering of material and institutional expectations that recognises the limitations of current clinical collaborations and stem cell research, and also keeps open the possibility of future collaborations when the success of ‘stem cell therapy’ or ‘disease-in-a-dish models’ may be more likely. In other words, scientists’ talk about expectations performs expectationsabout-expectations, which prospectively enables the collaboration necessary for translational research and the development of hES science as a heavily funded field of research. Finally, in our discussion of boundaries we saw how Gieryn’s notion of boundary-work can be employed to illuminate the crossing of boundaries that differentiate productive from less productive science. For example, while changing the culture conditions of ES cells to drive them to differentiate into (say) insulin-producing beta cells was disparagingly labelled as ‘shake and bake’ and was seen as little more than ad hoc alchemy, those promoting scientifically sophisticated genetic engineering of cells using oncogenes were regarded as pushing the boundaries of what could legitimately be seen as translatable science, with one US scientist asking, ‘Who will be brave enough to transplant those cells into a human?’ Boundary-work therefore illuminates the differences between social worlds. We also drew on the notion of boundary objects, which also helps to anchor particular groups in distinctive social worlds. We described how the separate worlds of PGD and hESC were brought together by a common interest in creating ‘disease-in-a-dish’ cell lines from affected PGD embryos. Here, the embryo acts as a translational boundary object. In the next section we argue that Bourdieu’s concepts should also act as ‘translational boundary objects’ in order to bring sociology and science studies into a closer and mutually productive alignment.
Some final thoughts … In this conclusion of the chapter we argue for the increased use of the ideas of Pierre Bourdieu in the field of the social science of stem cells, translational research and sociology of science more broadly. Despite the pre-eminent position of Bourdieu in areas such as the sociology of education and cultural sociology, there is a relative ‘absence of Bourdieu’ in science studies. Bourdieu’s influential concepts of habitus, field and capital, while having have had a major impact in anthropology, geography and sociology (e.g. Williams 1995; Wainwright, Williams and Turner 2006), have had little influence on science studies, though Bourdieu’s posthumous book – a plea for the use of his ideas in the field of science studies (Bourdieu 2004) – may change that (see Burri 2008; Brosnan 2008). We recently attempted to take up his challenge by adopting and adapting 53
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Bourdieu’s ideas to analyse the ‘structures’ of the stem cell research field in which the entwinement of academia and the Pharma industry enable the emergence of ‘disease-ina-dish’ approaches to regenerative medicine (Wainwright et al. 2008). Bourdieu’s sociology of culture is essentially an account of social practices that can be represented as follows: (habitus + capital) + field = practice (Bourdieu 1984: 101). In brief, a field is a structured system of social positions and it is within fields that we attain our habitus, an ‘acquired system of generative dispositions’ (Bourdieu 1977: 95) that gives us ‘a feel for the game’. Thus, ‘when habitus encounters a social world of which it is the product, it is like a “fish in water”’ (Bourdieu and Wacquant 1992: 127). Fields are hierarchies of power within social worlds which produce a set of dispositions (a habitus, where agents reflect the structures they are embedded in), and where individuals and institutions strive to accumulate capital to maintain (and enhance) their position within a field. Feeling at home in a particular field also depends on our acquisition of four varieties of capital: economic capital (money, etc.), symbolic capital (prestige; recognition of economic/cultural capital), social capital (relations with ‘significant others’) and cultural capital (legitimate knowledge). Bourdieu’s schema is useful in understanding the complex (and sometimes hidden) production and reproduction of social worlds (e.g. inequalities in education). Bourdieu’s concepts of habitus, capital and field provide a systematic approach enabling researchers to analyse the ways in which individuals and institutions, but also discourses (or enactments) and ‘systems’ (or fields), co-produce each other through a ‘processing of structure’. Thus, capital confers power and influence within a field and it is through promoting the value of forms of capital at stake in a field that this capital attains value and confers distinction on socially produced elites. In the field of science Bourdieu’s main forms of capital can be brought together as scientific capital, an amalgam of economic, symbolic, social and cultural capitals (Bourdieu 1988). An evocative example of the way in which scientists think of the uneven distribution of such ‘scientific capital’ was given to us by an eminent scientist (a Fellow of the Royal Society) who asserted that in UK science: ‘There’s London, Oxford and Cambridge – and then it’s a desert until you reach Edinburgh!’ (UK scientist). Here we see another aspect of a Bourdieusian analytic, namely that fields invariably involve struggles for power which reflect the habitus and capital of particular positions within a field. Our use of ‘capital’ can be clarified further. Arguably, capital is itself only productive through some form of display or enactment. That is to say, ‘capital’ (in our case, for instance, ‘scientific capital’) is ‘habitually’ (that is, ‘resourced’ by one’s habitus) enacted in relation to a field in which such displays are readily read. The eminence of the scientist quoted above is at once presupposed in his statement, and at the same time enacted and reproduced in the statement. The scientist is ‘habitually’ enacting and reproducing a pattern of inequalities that, within this field, indexes the performative implication that ‘success breeds success’ as capital begets more capital (and distinction confers distinction). Moreover, the claim is also a statement about the future – it performs the temporal continuity of a world of elites distributed in a particular way and, in so doing, ‘aspires’ to reproduce that world in the present and, indeed, future. In other words, such ‘habitual’ displays of capital are moves in a game that is fundamentally oriented to the future. Past and present scientific capital are employed to accumulate future scientific capital. In conclusion, a Bourdieusian approach to science and medicine highlights the tensions in habitus, illusio and different forms of capital within and between both laboratory science and clinical medicine. Translational research inevitably entails a struggle for power between the variegated social worlds of ‘rigorous science’ and ‘relevant medicine’. 54
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We invite other researchers to adopt Bourdieu’s imperative to use and adapt his ‘conceptual toolkit’ as a valuable way to understand the social worlds of new medical technologies and the ways in which science and society are co-produced. Moreover, such a Bourdieusian approach can also be a political project of public sociology (Burawoy 2005). On this view, sociological understanding is but a first step toward (potentially) changing the production and reproduction of (inequalities in) medicine, science and society (Bourdieu 1998, 2008; Wacquant 2005).
Acknowledgements This chapter is based on four research projects: ESRC Stem Cell Initiative RES-340–25– 0003 and RES-350–27–0001; Wellcome Trust Biomedical Ethics Programme grant 074935 and 081414.
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5 Reproductive genetics From choice to ambivalence and back again Anne Kerr
Introduction Setting the scene Genetics, genomics and society has burgeoned as an area of social and cultural scholarship alongside new technologies of diagnostics, databanking, treatment and genetic modification. In the late 1990s, as the Human Genome Project produced ever more detailed draft maps, and genes for the most common single gene disorders were identified and linked to the range of phenotypes through which these diseases are manifest, a number of prenatal genetic tests were developed by scientists and clinicians. Initially these tests were aimed at families who had already experienced the birth of an affected child, with conditions such as cystic fibrosis or Duchenne Muscular Dystrophy. Tests were also developed for so-called ‘lateonset’ disorders, such as Huntington’s disease, which affect people in adulthood. Although many have welcomed these new tests, families do not always want to take the test or abort when the results are positive (e.g., in the case of cystic fibrosis – see Lafayette et al. 1999). These tests for specific genetic disorders have not tended to develop into more general forms of antenatal screening for a range of financial, ethical and organisational reasons. Antenatal screening is mainly offered for more common chromosomal disorders such as Down’s Syndrome. Ultrasound anomaly scans can also pick up a range of defects in the foetus, some of which are the result of genetic mutations. Together prenatal genetic testing and screening or prenatal diagnosis (PND) can be considered to be a ‘suite’ of measures which involve technological intervention in pregnancy to diagnose genetic and chromosomal disorders in order that prospective parents can be offered a termination should the foetus be shown to be adversely affected. As these technologies developed, considerable attention was devoted to the reproductive choices associated with this new and not-so-new genetic knowledge. Abby Lippman’s famous paper (Lippman 1992) on the social and cultural constraints on informed choice set the scene for a range of critical analyses, including those from disability studies scholars such as Tom Shakespeare (1998) which challenged the implicit framing of disability as a medical problem to be avoided through genetic tests and termination. Teresa Marteau (1995) and colleagues’ studies of the interpersonal dynamics of 59
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genetic counselling, together with the impressive historical analyses of US scholars such as Diane Paul (1998), clearly demonstrated the ways in which a range of social and cultural conditions affect the processes through which women come to be offered particular prenatal tests and make reproductive choices. Other important work from an anthropological perspective, notably Rayna Rapp’s (2000) study of amniocentesis in America, also gave a rich insight into the complex tapestry of choices around reproduction in the clinic, the family and the community. Linking micro-level decisions in the clinic, with larger social and cultural forces, these authors have shown the implicit and sometimes explicit ways in which the termination of affected foetuses is privileged over other choices, including the choice not to partake of tests in the first place. Genetic counsellors and clinical geneticists have also reflected upon these processes. For example, Angus Clarke in the UK (Clarke 1991) and Barbara Biesecker (Biesecker and Peters 2001) in the US, have actively engaged with the politics of reproductive choice and disability and sought to improve their services to take account of the social model of disability. This has led to a number of projects, such as the Answer (Antenatal Screening Web Resource) initiative in the UK, co-ordinated by Shakespeare, which focus upon providing more balanced information to prospective clients of genetic testing, and exploring experiences of living with genetic disease for individuals and their families.1 Assisted conception technologies evolved in parallel with these prenatal genetic tests and screening programmes, within a context of considerable public suspicion and concern, particularly around the creation of embryos for research purposes, and the use of these technologies by same sex couples, older or single women. Clinicians and scientists’ early technical efforts were focused upon improving sperm selection and embryo storage and grading, in order to increase the success rate of this complex and difficult work. They also built an enormous market for assisted conception among infertile couples, gradually extending the client base to women who were unable to conceive for a range of medical and/or social reasons. A range of mainly US and to a lesser extent UK scholars have explored these issues, from feminist (Steinberg 1997; Throsby 2004), historical (Pfeffer 1993) and anthropological (Franklin 1997; Cussins 1996; Thompson 2005; Konrad 2005) perspectives in particular. In the early days of assisted conception, little critical attention was paid to the discarding of affected embryos – clinicians in particular saw it as obvious that couples would only want a ‘healthy’ baby. In the early 1990s prenatal genetic diagnosis and assisted conception met in the arena of Preimplantation Genetic Diagnosis (PGD) (see Roberts and Franklin 2006). Here scientists and clinicians worked together to find ways of selecting non-affected embryos for couples with a history of genetic disease. These couples had often endured several rounds of PND as well as the death of their children in infancy due to genetic disease. Although PGD has never been offered on a wide scale and the chances of embryos implanting and pregnancies going to term remain low, it became the focus of close critical scrutiny in the public realm. Meanwhile, affected families formed intense partnerships with clinicians and scientists developing the techniques. In the UK, Roberts and Franklin’s ethnographic study of PGD (2006) and Williams and colleagues’ interview-based studies (Williams et al. 2007; Ehrich et al. 2006, 2007) detail the complexities of ethical discussions and decisions that both patients and professionals have negotiated in the course of developing and accessing these treatments. This work has demonstrated that families and clinicians are ambivalent about embarking upon PGD and about how to handle the information that it generates and the decisions that they must make about which embryos to select and which to discard. In contrast to 60
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much of the work on PND, the emphasis here has not been upon the poverty of the ideal of informed choice that belies the realities of restrictions and limits on choice, but upon the symmetries of ambivalence for both service providers and service users, and the strange comfort which women and their partners experience when experts acknowledge their doubts and lack of knowledge, as they make their way through the PGD process. This ambivalence and moral pioneering has strong echoes in the work of Rapp in particular. To set these developments in a wider context, it should be noted that legal, cultural and organisational systems concerning both PND and PGD vary from country to country in complex ways. In some European countries with a strong Catholic tradition PND and PGD are restricted, in others the technologies are more readily available. The middle classes in rapidly industrialising countries such as India and China have readily adopted these technologies and ultrasound scans are also widely available (and used for sex selection as well as the identification of disabilities). There are also differences across the English-speaking countries that this chapter focuses upon. In the UK antenatal services are predominantly offered through the National Health Service (NHS), where genetic counselling is given via clinical geneticists, and termination is legal to term in cases of serious disability. Assisted conception services tend to be offered through private assisted conception clinics although NHS services are available on a limited basis. There is a well-organised regulatory system to control the types of tests and screening services on offer through licensed clinics. Although there are criticisms of termination and the disposal of defective embryos from pro-life and a disability rights perspectives, abortion and assisted conception legislation is not under threat because the majority view in parliament and public surveys is pro-choice. In the US, the situation is more complex, with most women coming to these tests and screening programmes through private health care in pregnancy, where screening is more widespread and routinised. Specialist services for affected families are also organised differently, with genetic counselling being provided by a distinct professional group, largely drawn from a background in social psychology. The politics of reproduction are also more complex, in the sense that abortion laws vary according to state, and the pro-life voice is much more influential in public and in policy processes and in limiting women’s reproductive choices in the clinic. Querying choice Looking across these socio-technical developments in the area of reproductive genetics, choices are a key concern for a range of groups, not least women and their partners. This is true for both arenas of PND and PGD. Choice is a central concern in discussions among scientists, clinicians, patients, prospective parents, scholars, critics and regulators, and even in the public understanding of genetics where ‘drawing the line’ around what reproductive choices are offered to whom has always been a persistent metaphor and cognitive resource for thinking through the social implications of genetics (Kerr et al. 1998). The types of choices that should be offered, the right to choose, and the conditions which influence and restrict choices are key to these discussions. When we turn to the growing fields of bioethics and disability studies and their engagement with reproductive genetics, we also find a strong emphasis upon choice, alongside a strong imagination about what choices might become available in the future. This work often focuses upon the rights and wrongs of termination on the grounds of less serious disorders or social conditions/disabilities including sex (Birch 2005; Parens and Asch 2003). The ethics of selection for positive traits, including ‘saviour siblings’ has also been discussed in depth (Boyle and Savalescu 61
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2001). This is where a couple with an affected child use PGD to conceive a sibling that can be a tissue donor. The right to choose is often held to be paramount, especially by those writing within a liberal tradition where the individual is sacrosanct. This also extends to some arguments by disability studies scholars, who argue that disabled people should be able to deliberately select foetuses affected with their genetic impairments, for example deafness, although this is explicitly condemned by some authors (see McLellan 2002). Visions of a better ‘more equal’ world and balanced, informed, even free choices around reproduction, jar with these increasingly prescriptive versions of what women should do when facing these difficult choices. Paradoxically, the idea of choice is at once idealised and ultimately restricted by critics and advocates of reproductive genetics alike. This suggests the need for further reflection on the conditions of uncertainty and ambivalence under which reproductive genetic choices manifest and evolve. There is the need for a more thoroughgoing analysis of how ambivalence frames and indeed constitutes particular choices at particular times, and how choices echo through the social world rather than evaporate at the point at which decisions are made. The open-ended, even elusive nature of choice, for the many parties that these technologies touch, directly and indirectly, also requires further analysis. And there is a need to reign in dark imaginings or potentially frivolous thought experiments about choices that might become possible in the future. We need to concentrate upon the messiness and complexity of the present in a time of uncertainty, or else we risk losing sight of what really matters to people in the business of reproduction. Greater empirical precision that recognises the important differences between reproductive genetic technologies, and the actors that engage with them would also be worthwhile. Although there are clear parallels, the elision of PND and PGD in some of the more broad-ranging bioethical and/or disability studies discussions is especially problematic given that the work done to constitute (and dispose of) embryos and foetuses, both discursively and materially (within and out with the body), is so radically different in these arenas. At the same time as we must unpack these wider dynamics and dare I say ‘realities’ of choice, we must also move beyond a discussion of choice to consider reproductive genetics as something more than a set of problematic choices for those most directly affected by these technologies. Technologies have a broader cultural life beyond the material – functioning as representations and points of cultural resonance for particular social groups and actors. In addition to considering the public, policy and media discourses around reproductive genetics, we must also explore what is absent from their accounts and the ways in which they reify choice while failing to confront the ambivalence through which it is mediated. In this chapter, I will explore these themes in more depth, with the aim of unpacking some of these complexities in the hope of contributing to and perhaps somehow bridging academic, activist and policy discussions about these important issues. I begin with a fuller account of choice and ambivalence, drawing on a range of empirical studies and more theoretically oriented writings concerned with contemporary practices in reproductive genetics. I will then move on to consider the wider socio-cultural place of reproductive genetics, before returning to draw some conclusions about how we understand and analyse reproductive genetics in the era of genomics. Introducing ambivalence My focus here is upon sociological rather than cognitive or psychological ambivalence (although the two are obviously not mutually exclusive).What happens when individuals 62
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and social groups or cultural discourses hold apparently contradictory views in parallel and are the tensions produced by these contradictions paralysing or productive? Drawing on the ideas of Bauman (2003) and previous collaborative work with Sarah CunninghamBurley and Sarah Franklin (Kerr et al. 2007; Kerr and Franklin 2006) I am interested in the extent to which ambivalence or doubt can be a positive aspect of morality or ethical reflection about reproductive genetics, for individuals and society as a whole. Bauman argues that the facilitation of individual reflexivity alongside public spaces for citizens to challenge and debate and disagree about the good life and how to live it is key to a new ethics that avoids the barbarism of modernity and the nihilism of postmodernity. Although we are used to thinking of choices as good because they can resolve ambivalence one way or another, this is not necessarily always a good outcome, or even a genuine outcome. Making a choice can generate other choices that can involve yet more ambivalence. Choices may also be a burden rather than a benefit, especially when there are too many of them. Ambivalence is therefore not necessarily something to be avoided – at times it may be a resource or even a comfort. However, there is also a need to be aware of where ambivalence is expressed and how it is foreclosed, avoided or disposed of in particular discursive contexts. It is especially important to think through the dynamics of choice and ambivalence at the level of the individuals, the clinic and policy, as they are likely to play out differently in these various contexts. Individuals may find choices burdensome and ambivalence welcome in the context of treatment, but clinics need to offer choice and micro-manage ambivalence to enable the service to continue, and policy needs to allow for ambivalence but also foreground choice: a difficult circle to square.
On choice and ambivalence: frames, echoes and context Setting aside the rather sterile debate about what has changed since the heyday of eugenics, it seems clear that the conditions under which contemporary reproductive genetic tests are offered to prospective clients are shot through with uncertainties and interdependencies which make the notion of individual informed and/or rational choice just that: a notion. This is captured in the following excerpt from Nikolas Rose’s The Politics of Life Itself: [Today’s] counselling encounters entail intense bidirectional affective entanglements between all the parties to the encounter, and indeed generate multiple ‘virtual’ entanglements with parties not present – distant relatives, absent siblings, potential offspring. In these entanglements, the ethical relations of all the subjects to themselves and to one another are at stake, including the experts themselves. The consultation acts as an intensifier of ethicality. It mobilises affects of shame and guilt, and of the respective claims, scope and limits of freedoms for the self and obligations to others. It activates the conflicts within the counsellors between the ethics of care and the ethics of guidance. It requires the counsellors to fold into themselves in a way that is by no means trivial or transient, some of the anxious and fateful undecidabilities that possess those whom they counsel. (Rose 2006: 74) Ambivalence in the sense of uncertainty and indecision is the contemporary hallmark of reproductive genetics, at the same time as the rhetoric of informed choice marks it as 63
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significantly different from the eugenics of the past. Counsellors and counsellees fashion a choice from their encounters, but the complexities and ambivalence within this process are simply not captured in the notion of ‘informed choice’. Panning back from the clinical encounter, for people with a family history of genetic disorders, the dilemma of procreation is not simply solved by the choices offered by PND or PGD. The existence of these technologies factors into their thinking and discussions, but there is no inevitable momentum towards an actual encounter with them. Not only is their provision often limited (because of a lack of specialist services or high costs), but people do not inevitably choose to take them up even when they are available. In the case of late-onset disorders, many individuals prefer to remain in a state of ‘knowing ignorance’ that also has implications for their reproductive behaviour. As Claudia Downing (2005) has written in her study of families facing Huntington’s disease (HD), the same risk information can be interpreted quite differently, even by members of the same family, and ‘negotiating responsibility’ for taking a diagnostic test and/or having and/or passing on the disease evolves over time. For family members that choose not to be tested in or prior to pregnancy, making it known to their families that they had sought genetic counselling could be enough to engender their support, even if they considered themselves unable to take the test, in some cases because ‘they needed to retain the hope associated with uncertainty to function as responsible parents’ (ibid.: 231). For others, PND raises new uncertainties as the complexities of the accuracy of the genetic information and its relationship to phenotype must be interpreted. Even with a ‘positive’ diagnosis, choosing an abortion or choosing to give birth to an affected child does not dispose of ambivalence. The option of PGD is also far from open or easy for many families. There are considerable costs involved – financial, emotional and physical – and the meaning of the information provided about the embryo’s ‘risk status’ is often far from unambiguous. Even when PGD is deemed a success and unaffected embryos are given a ‘trajectory to life’ in the womb, that trajectory is always open to interruption, especially since diagnosis often needs to be confirmed through PND at a later stage in the pregnancy (Roberts and Franklin 2006). This means prospective parents and their care givers are often ambivalent about the value of PGD and about how to interpret the minutiae of the information it generates. It would be wrong, however, to consider the various risks and uncertainties associated with PND and PGD as there to be overcome in the interests of some ideal of choice, be that a matter of the ‘wise’ choice or the choice made wisely. Drawing on Onora O’Neill’s discussion of trust and accountability, Roberts and Franklin contextualise their study of PGD with a discussion of the ways in which accountability accumulates as clients and providers work out what to do. ‘Good information’ is constituted through open dialogue so that the meaning of that information is actively constructed in a partnership between ‘expert’ and client (Roberts and Franklin 2006: 204). As Roberts and Franklin note, ‘it is impossible to know which answers or decisions are “right” and best practice must be based on the quality of the decision-making process which in turn relies upon its perceived trustworthiness or accountability’ (ibid.: 2006: 209). This relational, evolutionary model of accountability also makes sense in relation to choice in its own right – in the best-case scenario reproductive genetic choices unfold through critical, open dialogue. The emphasis here is upon relational rather than individual rational autonomy: choices are inter-subjective rather than objective and agency is co-produced by a range of social and material actors not individuals acting alone. As Ehrich and colleagues also note in their study of practitioners’ ethics of PGD (2007), relational autonomy came to the fore when their participants talked through the prospect of taking a test with affected couples 64
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and reflected upon their own values on a more personal note. In both studies, practitioners tried to address the wider context of reproductive choices, including their social implications. The process of addressing these wider contexts offers a means though which to bridge ‘professional knowledge, individual autonomy and wider social, ethical and professional values’ (ibid.: 2007: 8). Sadly, it seems that the small intensive scale of PGD and the meaningful partnerships between providers and their clients upon which the service is often based contrasts rather sharply with the ‘industrial’ end of reproductive genetics: antenatal screening for conditions such as Down’s Syndrome. Here there is precious little time for staff or couples to critically engage with risk information, even though it is far from easy to interpret, as both groups experience screening and subsequent diagnostic testing like a conveyor belt that is difficult to get off (Raffle 2001). Ideally, reproductive decision-making should be reflexive: notions of risk and disability should evolve in exchanges between counsellors and clients (Biesecker and Peters 2001). However, the limited time for screening discussions, discomfort around termination and sometimes the lack of expertise on the part of counsellors means that underlying negative attitudes about conditions like Down’s Syndrome are often implicitly reproduced through the consultation (Alderson 2001; Al-Jader et al. 2000). Nonetheless, there is evidence that some practitioners are more reflexive about the limits of choice. A study by Williams and colleagues documents practitioners’ ambivalence about the apparently inexorable logic of progression in antenatal screening and the dangers of ‘too many choices’ (Williams et al. 2002a, 200b). Practitioners in this study were concerned about women’s opportunities to decline testing and feelings that they might be judged to be irresponsible if they declined. They also expressed discomfort with their own role in shaping clients’ decisions within a health care culture of screening and market values. A strong critique of choice emerged in the context of this ambivalence yet these practitioners’ ‘day job’ was to facilitate these very choices. However, studies of peoples’ experiences of being found to have an affected pregnancy also show how a lack of dialogue with staff exacerbated patients’ feelings of loss and grief, especially when facing late-stage terminations or perinatal death (Lalor et al. 2007; Malacrida 1999; see also Rapp 2000). As Williams and colleagues (2001) have suggested in a study of foetal medicine ethics, practitioners may deny engagement to protect themselves from the emotional pain of their job. Practitioners’ lack of sensitivity to clients stemmed, in part, from their ambivalence around death – particularly when the imperative to ‘do something’ to avoid natural or prolonged death meant that they actively intervened to hasten the death of the foetus in the later stages of pregnancy. Presenting these interventions as a matter of ‘no choice’ can be helpful to some clients as well as to staff. As Rapp notes, for some women in her study of amniocentesis, ‘the very notion of “choice” is unbearable and must be abolished from the vocabulary of grief’ (2000: 225) as a means of bracketing the pain of ambivalence surrounding their decision to abort. Ambivalence is clearly expressed differently, depending upon the context of care and the actors involved. In the case of PND, ambivalence is not used effectively in clinical situations; practitioners and their clients do not have a means of sharing their concerns in a way that benefits both parties. Ambivalence here is darker and more corrosive. A focus upon choice is not a good way of managing these difficulties either – instead it can seem to make them worse as it heightens people’s sense of responsibility, guilt and grief. It is also important to note that there is a distinct lack of available counselling for people affected by the birth of a child with a genetic disorder. Parents who have experienced the birth of a child who might have a genetic disorder do not always get 65
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genetic counselling. Sikkens and colleagues note in a study from the Netherlands that nearly 40 per cent of parents who experienced the birth of a child with congenital abnormalities and were suitable for referral to the genetic clinic did not receive genetic counselling, although it is not clear whether this was an active choice on their part (Sikkens et al. 2002). There are also limits on the availability of screening and counselling services for some ethnic groups with high prevalence of particular genetic conditions like sickle cell (Atkins and Ahmed 1998). This suggests that for some their ambivalence is within a context of too few, not too many, choices. Moving back from the clinic once again, reproductive choices are not made in isolation from wider families and communities. Once made, they reverberate beyond the individuals concerned. Even if they keep their choice a secret, clients must consider the consequences of their choices for those around them as they may reveal information about their risk status too. Finding out one’s status as ‘risky subject’ can have implications for other family members that can be especially pertinent to those engaged in or contemplating reproduction. Mothers, sisters and daughters seem especially bound up in these risky relations. This cannot be understood in simple terms such as the geneticisation of kinship (Finkler 2000) as knowledge, choice and responsibility are negotiated in complex ways. Monica Konrad has pointed to the ways in which families affected by HD come to know and understand their kinship through establishing and updating tentative genealogies (2003). When new knowledge of connections to someone at risk emerges, especially when parenthood has commenced, this can cause profound feelings of ambivalence in the sense of doubt and uncertainty about whether or not to contact them with this new information and change their identity in the process. Affected individuals also face a ‘burden’ of deciding when to tell their children. The individual’s choice to know involves them in considering and trying to manage the consequences of their choice for their children’s sense of genetic and social identity. This can result in conception secrets for those who choose non-disclosure, secrets which Konrad notes, ‘live on, even beyond their repeated telling and retelling’ (Konrad 2003: 349). Hallowell’s studies of how women with a family history of breast cancer negotiate reproductive choice and responsibility also show how a sense of connection with and potential guilt about one’s daughter and her daughters to come frames treatment decisions, not just reproductive decisions (Hallowell 1999). Drawing on Parsons’s and Atkinson’s (1992) study of the ways in which women tested for carrier status for Duchenne Muscular Dystrophy translate their risk status into their personal ‘stock of knowledge’ as a way of thinking about their future reproduction, we can also imagine that some clients of reproductive genetic services translate their experience of testing and/or termination into the everyday patterns of their life to manage to live with the consequences of their choice. Similarly, in a study of women’s and men’s responses to genetic risk information about breast (and in women’s case ovarian) cancer, d’Agincourt-Canning noted, Some participants responded to their positive results with feelings of uncertainty. Their mutation status put them into what some have called a ‘liminal’ state that is a position of being neither ill nor perfectly well. This state of uncertainty did not define the way they conducted their lives. Rather than feeling threatened, these participants accepted their genetic risk as any other risk that needed to be dealt with. While worrisome at times, it became part of their awareness and part of their routine lives. (d’Agincourt-Canning 2006: 469–70) 66
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Although this research is not around reproductive genetics, it does hold clues for how people might learn to live with genetic risks in the long term, including their previous decisions related to reproduction that these risks had coloured. For some there will be a process of bracketing and forgetting which enables them to live the rest of their lives without reference to the troubles of their past. A sense of having made the right choice and of having acted responsibly in the interests of their family and their unborn child has been found to be important in enabling people moving on from their decision to test and/or terminate (Rapp 2000). At other times, a recognition of ambivalence might actually enable people to live with the choices they have made. García and colleagues (2008) found in their study of patients’ experience of being offered PND for Down’s Syndrome that all of the participants felt that their choices may have been different in different contexts. This is not to say that they regretted their decisions, but that they recognised their socially situated logic. For all of the participants, whether they accepted or declined PND, there was considerable diversity of opinion and/or ambivalence as they thought about what it would mean to have a disabled child in their lives and that of their families. Perhaps this recognition of ambivalence helped them to come to terms with the test results and the choices they made in response. These processes of negotiating responsibility beyond the immediate choice to find out about and manage the risk status of oneself or one’s unborn child are also part of a wider process of identity work that genetic technologies can involve. Novas and Rose (2000) discuss the postings to an HD support groups on the web, noting that reproduction is a key area of concern, and suggesting that these informal processes of mutual disclosure around such issues among those who identify themselves with a virtual community are significant because they constitute a new form of authority based on … experience … Within such life strategies, the governance of risky genes is intimately tied to identity projects, the crafting of healthy bodies, and the management of our relations with others. (Novas and Rose 2000: 503) Prospective and previous reproductive choices thus form part of people’s constructions of identity, in environments where they can share their experiences with similar others. This does not only apply to the virtual realm, but to more grounded communities in a range of contexts, from condition-based support groups to parenting networks. Revealing and hiding reproductive choices and disease status are also part of how people account for their identity among colleagues, friends and in their engagements with service providers with an interest in their health. This can involve opening up, sharing and/ or managing ambivalence and helping people to make or avoid particular choices about what to know. To sum up, informed choice is an ideal not met in practice in the sphere of reproductive genetics. Sometimes this is because patients do not have access to diverse and nuanced information and appropriate space for contemplation and decision-making. At other times, there is a lack of opportunity, desire or motivation to make a choice, or even a lack of ability to face choices or to live with their consequences. However, choices still get made – sometimes this is experienced as a resolution, at other times there is regret and guilt, for clients and practitioners alike. But a condition of ambivalence can also prevail in a more positive sense – seeing that the possibility that other choices could have been made can be comforting rather than distressing for affected individuals. 67
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Practitioners too can experience offering and facilitating patients’ reproductive choices as giving them the best chance of a healthy baby, or as a form of closure when faced with abnormality or a source of more difficulty and uncertainty for their patients and their own moral selves. Sometimes there are too few choices and sometimes there are too many. Choices are variously revealed and hidden as people construct their identities in various contexts. Choices and lack of choice have the potential to create and/or mitigate ambivalence in complex ways. Individuals, families and clinics’ engagement with PND and PGD are characterised by a lexicon of choice and ambivalence that the ideal of informed, or individual choice does not capture. Ambivalence here can mean uncertainty, indecision and dilemma, but also knowing ignorance and the conditions of hope for the future. Choices in these contexts are highly variable and context specific, based on relational rather than individual autonomy. They cannot be understood in isolation from ambivalence. It seems that the people who are closest to these processes know this most acutely, be they affected individuals or practitioners. Yet these conditions of ambivalence seem to get lost on the wider public stage where reproductive genetics is invariably reduced to a matter individual choice.
The sociocultural places of reproductive genetics This focus upon individual choice means that the choices which are made in the process of facilitating the testing or screening service overall get lost from view (Lippman 1992). These are choices in which pregnant women and families affected by genetic disease do not traditionally play a role. Yet there is no intrinsic logic to any technology, despite how we sometimes feel as recipients and practitioners. Instead, technologies and their applications are socially accomplished through a combination of material and human agency, as much of the work in the sociology of technology has amply demonstrated. In the area of reproductive genetics it seems that a limited range of actors participate in these processes and operate with a narrow, often economistic version of the public health in mind (Kerr 2004: Chapter 4). However, the recent opening up of genetic and embryo research and assisted conception to wider public scrutiny has created some spaces for affected women and their families to become more involved in shaping the agenda of diagnostic and treatment facilities and public policy more widely (see Rabeharisoa 2006). In the UK this is especially true in the smaller more ‘craft’-based areas like PGD where a range of public consultation events have taken place and have shaped the regulation of this technology. Patients groups have become increasingly effective at putting their agenda for better diagnostic and treatment services across, including the case for stem cell research. Families with genetic disorders, especially those who have experienced the death of a child in infancy, can expose their private reproductive ambivalence in public as a means of demanding greater reproductive choice. Parents’ key role in establishing a demand for PGD is often highlighted by clinicians in this field, and the model of partnership is also stressed by other pioneers of antenatal diagnostic testing for conditions such as cystic fibrosis. However, the more radical or questioning agendas of some of the disability rights organisations who are also part of these consultations is less influential. Their calls for investments in service provision over ‘cure’, and their accounts of how it feels to confront a test that is designed to make sure that people like them are not born, have not 68
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had much of an impact on reproductive genetics beyond the general level of public debate. Their concerns are expressed and then bracketed by regulators, parents and innovators alike: in other words, their ambivalence is managed away. The rhetoric of individual choice has more institutional leverage and support from diverse groups with a stake in reproductive genetics. Choice also looms large in the wider public’s ethical discourses around PGD, but in a way that is intimately tied to ambivalence. Scully and colleagues’ (2006) study of lay views on sex selection using PGD noted a high degree of ambivalence about choice because of the perception that it placed a burden on people, especially in conditions of uncertainty about knowledge, a tendency to individualise responsibility for health and negative value judgements about disability. Ideals of good parenting and the personal liberty of the child profoundly shaped these accounts, in a model of relational autonomy, as with the case of professionals involved with the provision of PGD as reported above. Although necessarily situated within a strong discourse of ambivalence, choice was nonetheless a key organising concept for how participants thought about the morality of PGD being used for social rather than more obviously medical reasons in Scully and colleagues’ study. Interestingly, there was also a strong theme of the need to relinquish choice as a part of parenthood, to deal with the reproductive dice as they are thrown and to accept children, however they turn out. Participants found it difficult to establish where these choices ought to begin and end in relation to the spectrum of disorders that the tests might be used to identify, as have others in similar studies of genetic testing as a whole (Kerr et al. 1998), but the need to make a choice was paramount. In a focus group study on reproductive genetics in the US, Kalfoglou and colleagues also found an interesting diversity in participants’ notions of choice, including appeals to the importance of accepting God’s choice and a despair about people’s capacities to make wise choices, born of a general scepticism about humanity. As they noted, ‘These participants were concerned that greed, vanity, and prejudice would drive both individual and policy choices’ (Kalfoglou et al. 2005: 1617). Yet, in common with other studies, the authors found that the majority of participants bracketed this ambivalence in favour of individual choice, based on a sense that couples directly affected by these conditions should make their own decisions. We must also remember that there are some important cultural differences in how reproductive choices are related to perceptions of good motherhood in particular. The UK–US ambivalence around choice is often resolved, for regulators and a majority of publics alike, in the right of couples to choose but this carries with it a profound ambivalence about whether or not these couples are acting like good parents in trying to choose ‘healthy’ children. We can see such ambivalence on global as well as local stages. In countries with a more barbaric history of state-sponsored eugenics, Germany in particular, women can be shamed if they take up reproductive genetics because it is seen as selfish, whereas in other societies where reproductive genetics has been embraced, notably Israel, it might be considered selfish not to take the test (Hashiloni-Dolev and Shkedi 2007). Both extremes in their different ways, constitute a model of motherhood in terms of relational autonomy – German and Israeli mothers are expected to limit their autonomy in the interests of the child. At the same time, it is reproductive choice (or lack thereof) that becomes the focal point of social judgement. Key actors in policy discussions about reproductive genetics also foreground choice in conditions of ambivalence. As Mittra (2007) has argued, the recent report by the UK House of Commons Science and Technology Committee, entitled Human Reproductive 69
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Technologies and the Law (HOC 2005) used reproductive autonomy as a battering ram against the Human Fertilisation and Embryology Authority’s (HFEA’s) previous decisions to limit PGD to serious disorders by emphasising the precautionary principle (although the HFEA has also been criticised for its wide interpretation of ‘serious’ in making licensing decisions). The committee emphasised the need to devolve decision-making to clinicians and clients, except in cases where evidence of harm to individuals or society was compelling. Considerable attention was devoted to drawing a distinction between the eugenics of the past, with an emphasis upon coercive population improvement, and individual choices to improve health and avoid disease and disability in the present: discourses promoted by an unlikely alliance of pro-technology, pro-medicine and pro-choice activists. These arguments sit alongside, but not necessarily in dialogue with, anti-abortion and disability-activists’ problematisation of individualism, information and choice and their concerns about the consequences of negative representations of disability, as perpetuated by antenatal testing and screening, for people living with disabilities (see Kerr and Shakespeare 2002). The more recent UK Human Genetics Commission (HGC) report entitled Making Babies: Reproductive Decisions and Genetic Technologies (2006) attempted to bridge this divide by privileging reproductive autonomy at the same time as promoting better service provision for people with disabilities to enable couples to ‘make a real choice to have a child with a genetic condition if that is what they so wish’ (HGC 2006: 11). The HGC also recognised a relational dimension to reproductive autonomy and accepted that reproductive decisions are made in context and may have effects beyond the couple and their potential child, including society as a whole. Yet the HGC defaulted to reproductive autonomy as a means of resolving these tensions, whilst also stressing other vaguer notions of ‘genetic solidarity’ and protecting children’s interests alongside the principle of individual choice. It seems the best that can be done is to line up a set of principles, with choice top of the list, without tackling the ways in which these principles entwine and contradict each other. The appeal to ‘real choices’ emphasises choice once again, in such a way that it dominates when cast alongside much more tentative appeals to precaution and the need to think about ‘drawing the line’ at selection of trivial traits such as myopia. Individual choice dominates in a range of public discussion and pronouncements about reproductive genetics. Although ambivalence is often recognised and expressed individual choice is a kind of default position for regulatory bodies, members of the public and even patient advocates. An important reason for the dominance of choice in these various public discourses around reproductive genetics is the backdrop of anti-abortion and antiembryo research politics against which they play out. Although in the UK these are the views of a vocal minority, it is a minority that nevertheless plays an active role in public discussion and debate about reproductive genetics, presenting a range of legal and moral challenges to regulators and parents alike (see Mulkay 1997). These groups seek to close off ambivalence around the ‘meaning of life’ by arguing against a gradualist, transitional model where the potential for life grows rather than is established at the moment of conception. At the same time they seek to open up ambivalence on other fronts, around the extent to which women are being offered ‘real choices’ and about the values we place on disabled lives. Scientists and pro-research advocates have tended to mobilise choice to counteract these claims, but also to open up ambivalence of their own about what the moment of conception might be, for example. These strategic aspects of ambivalence should not be underestimated when considering the politics of reproductive choice writ large. However, there is little critical reflection of 70
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their role in debate in mainstream press coverage of reproductive genetics, where we repeatedly see reproductive genetics presented as a debate between ‘pro-life’ versus ‘proscience’ positions. The focus upon particular events such as new discoveries and applications also feeds this dichotomous format. From press reporting around cloning and stem cell research, to genomics more broadly, there is a consistent lack of attention to the realities of women’s choices and the complexities of risk information and interpretation with which they must engage (Williams et al. 2003; Petersen 2002; Nerlich et al. 2003; Kitzinger et al. 2002). Although fictional representations and dramas about reproduction and genetics tend to explore ambivalence in more depth, these cultural products often sensationalise by foregrounding ‘sex and death’ (Henderson and Kitzinger 2001). The ironic play of particular frames around reproductive genetics in the press also needs to be recognised. Just as readers do not believe all that they read, journalists do not believe all that they write (Petersen 2002). However, there is still a tendency to focus upon imagined futures of prospective treatments and cure, a tendency that potentially undermines wider and deeper discussion of the one key area where genetics has had an impact upon clinical practice: the area of reproduction.
Conclusion We understand now that uncertainty is not a temporary nuisance, which can be chased away through learning the rules, or surrendering to expert advice, or just doing what others do. Instead it is a permanent condition of life. We may say more – it is the very soil in which the moral self takes root and grows … [We must recognise] the intimate connection (not contradiction!) between autonomous, morally self-sustained and self-governed (often therefore unwieldy and awkward) citizens and a fully fledged, self-reflective and self-correcting political community. They can only come together; neither is thinkable without the other. (Bauman, 2003: 36) Bauman argues that there ought to be a process of translating between productive and positive situations of personal ambivalence and public spaces where ambivalence can be freely expressed. This could, in his view, form the basis for a better kind of private and public existence in late modernity. This is an intriguing possibility. Given the conditions of ambivalence that we can trace in the area of reproductive genetics, especially in affected couples’, publics’ and professionals’ responses to testing and screening more generally, is there any possibility for drawing upon them to improve dialogue and policy making in this contested realm? Perhaps it is time to dismantle the ideal of informed choice in reproductive genetics and to put a more modest and provisional version of choice in its place that works with rather than against conditions of ambivalence. Drawing from Roberts and Franklin, it seems that the best types of decisions are made in the context of meaningful relationships between experts – affected families, embryologists, clinicians and counsellors – where ambivalence is openly acknowledged. An exploration of ambivalence clearly requires time. This underlines the importance of timely service provision and space for reflection with supportive counselling for affected couples. This is not an argument about reducing choices in the interests of the community rather than the individual. Rather, it is a call to 71
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move beyond the ideal of choice as a matter for individuals alone through supportive dialogue rather than condemnation or restriction. More generally, there needs to be time for policy makers and service providers to attend to the sociotechnical contexts through which tests and screening services evolve and the choices and ambivalence therein and a wider range of people need to be involved in these processes. There is also a need for more creative thinking around choice in the public and political spheres. Too often, it seems, we shy away from allowing people their choices for fear of infringing their freedoms, at the same time as we leave them alone with their responsibility to choose. We need more widespread recognition of the ways reproductive choices are framed and limited, and how they are not necessarily always welcome or comforting for those who must make them. We also need better support and empathy for people making reproductive choices – resisting the urge to stand in judgement while loudly proclaiming, ‘It’s up to you.’ The typical policy move of resolving tensions around reproductive genetics by appealing to individual choice is far from satisfactory. Perhaps other values like compassion and goodness could take its place. It certainly seems that policy makers, activists, affected families, practitioners and professionals as well as scholars and writers could benefit from actively seek to talk beyond and around choice. This draws upon the sophisticated understanding of reproduction and disability that many groups of the public have already, media rhetoric notwithstanding. The lived realities of having and raising children, caring for sick and elderly relatives, and negotiating responsibilities for oneself and one’s family are intrinsic parts of what we all do, whether we are touched by genetic disease or not. If our political community is to build upon this lay understanding, as well as the many rich and varied studies we have of people’s direct experiences of reproductive genetic choices and responsibilities, we need to protect and even foster a range of unwieldy and awkward scholars and citizens of genomics. Challenging ambivalence is as important as fostering it.
Notes 1 www.antenataltesting.info/default.html
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6 Localising genetic testing and screening in Cyprus and Germany Contingencies, continuities, ordering effects and bio-cultural intimacy Stefan Beck and Jörg Niewöhner
Introduction Genetic testing and screening comprise diverse fields of practice. They are being employed in medical and public health practice, in different fields of scientific research, in criminal investigations as well as in paternity testing and people’s attempts to determine their ancestry. They entangle individuals, families or populations at specific points in time, at specific stages during individual lives, and they follow different ends and produce outcomes, the interpretation and consequences of which are highly contingent upon the specific cultural, social, biological and technological constellations within which they take place (cf. Löwy and Gaudillière 2008). The diversity of these constellations depends to a significant degree on the way they are engaged with and positioned by a multitude of knowledge practices from science and beyond. We present only two examples from the medical domain in this paper and thus ask our readers to take this piece as a point of departure for their own thinking rather than expecting a comprehensive overview of current scholarly and practitioners’ debates.
Technology and terminology Genetic testing is aimed at identifying variants of genes that are associated with inherited disorders. The result aims at confirming or ruling out conditions or at helping to determine a person’s risk to develop a genetic disorder or to pass on a trait. In contrast, screening aims to identify individuals in a given population who are at higher risk of having or developing a particular disorder.1 Thus a genetic test forms the basic biomedical practice for an individualised diagnosis, while screening is one of many specific social settings within which a genetic test is employed. Screening started in the 1960s as a search for ‘inborn errors of metabolism’ (US PCB 2006). Phenylketonuria (PKU) is seen as the prime example. In general, tests are least controversial when employed in constellations where individuals are able to give their informed consent to the test (NIH/ 76
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BIG 1998), and where a clearly determined outcome can be expected or the possibility for a positive therapeutic intervention exists (O’Neill 2001).2 These preconditions are seldom satisfied in toto: individuals may be under the legal age of consent or they may be unable to relate their opinion (Wertz et al. 1994); tests more often than not give probabilistic outcomes and tests support diagnoses of as yet incurable diseases (Evers-Kiebooms 1995). Further, the complexity of genetic knowledge problematises the notion of informed consent (Thomson 1994), while the fact that genetic information often pertains to relatives of the person tested questions the notion of individual consent (Dillard and Tluczek 2005). Most Western societies have instituted a ‘right not to know’ in their legal-regulatory apparatus. Decisions concerning one’s own genetic constitution are seen as part of an individual’s basic right to informational self-determination and are as such protected against undue interference from third persons and the state. Particularly in newborn screenings, this legal constellation makes informational management a highly controversial and complex matter. Lastly, genetic analyses, particularly as part of screenings, often confer carrier status onto people, i.e. they confront healthy individuals with the information that they carry a mutation in one of their chromosomes (Clarke 1997; Marteau and Anionwu 1996). This status is unique to genetic diagnoses and for many reasons difficult to interpret for those concerned (Ciske et al. 2001).
Case studies Given the range of issues associated with testing and screening as practices, exemplary case study analyses cannot aim for representativeness in any meaningful sense. Rather, we have selected the thalassaemia screening in Cyprus and the attempts to install a newborn screening for cystic fibrosis in Germany, because they illustrate with particular poignancy the influence of specific local historical and social constellations on the material and discursive practices within which genetic technologies are enacted. We aim at demonstrating that contrary to still influential deterministic conceptualisations that conceive of biomedical technologies as somehow non- or pre-social artefacts that have hegemonic effects (e.g. Winner 1980) on local contexts and ways of implementation, biomedical technologies and practices are co-constructed. They are contingent on past experiences and socio-cultural paths; what screening or testing is and what ‘effects’ it might have is contingent on its socio-cultural commissioning in specific spatio-temporal contexts. While the two cases illustrate this point, they could not be more different: in Cyprus, overwhelming support for a population-wide screening results from a highly prevalent disease and a screening regime which has been successfully translated into an existing social structure. In contrast, the deep-seated scepticism towards any kind of ‘genetic technology’ in Germany arises from the traumatising consequences of state-organised eugenic practices during the Third Reich, which continue to shape current modes of public debate, knowledge production and regulation in the domain of medical genetics. We attempt an anthropological analysis of these two cases and argue against the dominant exceptionalism that characterises most critical analyses of genetic testing and screening. Instead, we situate these two cases in the longue durée of multiple continuities: of genetic science, of patterns of meaning-making and of regulatory practice. Further, we situate genetic testing practices in the broad continuum of conventional medical testing as an established social practice. In the Cypriot case, we use the notion of bio-cultural intimacy to understand the importance of collective means of coping with genetic 77
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diseases and to discuss the effects for collective identities and self-reflection. In the German case, we concern ourselves with the power of collective memory practices to shape the critical analysis of genetic practices. We conclude on a methodological note arguing that the investigation of the interdependencies between bodies and cultures as practice necessitates a symmetrical epistemological stance. Thalassaemia in Cyprus Cyprus has one of the highest incidences in the world of the mutations that cause β-thalassaemia: every seventh person in the population is a carrier of the trait and suffers from thalassaemia-minor. These heterozygous carriers are generally healthy, but show symptoms of mild anaemia. However, there is a 25 per cent chance that two carriers pass on their respective genes to their offspring. In those cases of homozygosity or compound heterozygosity for a β-thalassaemia mutation, the child will develop thalassaemia.3 In 93 per cent of these cases thalassaemia-major as a very severe and lethal form develops, while only in the remaining 7 per cent of cases patients with thalassaemia-intermediate can lead a life without the need of major therapeutical interventions. According to the carrier frequency in the Cypriot population, almost one in every 160 newborns is expected to suffer from β-thalassaemia-major. The condition usually becomes manifest during the first year of life and – if untreated – leads to a series of severe clinical symptoms. Thalassaemia does not have a specific molecular correlate but includes several clinical abnormalities due to highly ineffective erythropoiesis. Most prominent symptoms are iron overload of the tissue, progressive dysfunction of liver, heart and endocrine glands, enlarged bone marrow resulting in an erosion of the bone structure from within and in pathological fractures. In the skull bones these changes transform the facial features (Olivieri 1999; Weatherall and Clegg 2001). Starting from the late 1940s, treatments were developed in Great Britain, the US and Australia that reduced suffering and extended life expectancy of patients significantly. Most crucial are regular blood transfusions. However, high transfusion rates that keep haemoglobin levels in normal range contribute to the accumulation of iron overload in patients, that in turn will result in a number of serious health problems. In the late 1960s and 1970s, the optimisation of treatment regimes combining regular blood transfusions with daily intramuscular injections of Desferrioxamine, an iron-chelating agent, successively increased life expectancy to the mid-forties (Modell et al. 2000). The treatment’s high intensity was not only a grave burden for patients and their families but also strained the resources of health care providers. While affluent countries could financially afford to provide the treatment facilities and resources, Cyprus encountered acute difficulties in implementing the new treatment regime: the island had gained independence only in 1960 after a long, violent struggle against British colonial rule. But the new state was troubled by intercommunal conflicts and bloody fights between a minority of Turkish- and a majority of Greek-speaking Cypriots that resulted in a first military intervention of Turkey in her role as guarantor power of the new state in 1964. Subsequently, the separation of communities was proposed as a way of ‘solving’ the conflict; consequently most Turkish Cypriots were pressed to resettle into ‘ethnic enclaves’ that were monitored by a United Nations peacekeeping force. In 1974, a coup by right-wing Greek Cypriot militias, intended to unify Cyprus with Greece, provoked an invasion of Turkish troops to protect the Turkish-speaking minority; the following flight by Greek-Cypriots from the northern part of the island and the exodus of 78
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Turkish-Cypriots from the South into the Turkish-occupied North completed ethnic cleansings and expulsions resulting in the partition of the island into a ‘Turkish’ and a ‘Greek’ part. These political, social, economical and cultural disruptions provide the context for the difficult implementation of a thalassaemia prevention programme in Cyprus that – in its initial phases – was characterised by lack of funding, hospital facilities, experts, medication, blood supplies and – most important – a general lack of knowledge in the population. As the then leading haematologist, Dr Minas Hadjiminas, recalls: In the early 1960s there were mothers who suffocated their thalassaemic children with pillows, parents committed suicide and many marriages split after the birth of ill children; because of stigmatisation, families avoided contacts with neighbours, fathers found it difficult to go to the village kafenion. We had to fight poverty, ignorance, prejudice, and superstition – not only in patients but in physicians and nurses as well.4 The success of the treatment regime despite this difficult situation meant longer treatment, and so it became more and more difficult to find enough blood donors for the growing number of living patients. In addition, the available supplies for the expensive medication with Desferrioxamine were running short in the country, so that families of patients had to buy it abroad (Book 1980: 11). The successful transfer of the advanced treatment regime to Cyprus gradually eroded the capacities of the health care system. In 1976, two years after the violent political and social events that had gravely disrupted the provision of treatment for patients, Patricia A. Book, a medical anthropologist, conducted fieldwork at the Cypriot Centre for Thalassaemia Treatment and Prevention in Nicosia. The unbearable situation is apparent in her vivid description: On a typical clinic day, the specialised physician, who had received his training in Great Britain, saw 14 patients and was assisted by two practical nurses. Since patients did not have fixed appointment times, they generally crowded in the hallway at 8.00 a.m., waiting to be called in to see the doctor. Crying, screaming, apprehension, and fear characterized the attitudes of many [of the often very young] patients … Some parents reported that they had to bribe, sneak, and/or coax their child or children to the hospital. (Book 1980: 10) For most of the patients and the accompanying parents, clinic days meant travelling to the hospital over great distances, long waits, distress and fear – twice a month. In addition, because of the shortage of stored blood supplies in Cyprus, parents of thalassaemia patients had to find donors for one to two pints of blood for each child every month of that child’s life. What is obvious from Book’s descriptions is that the suffering of thalassaemia patients, of their parents and families, was immense; they had not only to cope with a chronic and fatal disease, but they had to do so in a social environment that was indifferent or even hostile. In addition, families of patients were stigmatised or blamed by co-villagers; thalassaemic children were harassed in school or by their peers because of their facial features or the other symptoms they suffered. Health authorities as well as the leading physicians were alarmed, too. Asked for external advice, the World Health Organisation (WHO) predicted a 300–400 per cent increase in blood requirements and a 600–700 per cent rise in the cost of treatment for the next 50 years, should the birth rates remain unchanged.5 In short, the success in the treatment of thalassaemia patients was threatening the very existence 79
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of the Cypriot health care system (Angastiniotis et al. 1986: 292). In close cooperation with local experts, the WHO therefore recommended the implementation of a prevention programme to reduce the number of newborns with thalassaemia by means of a premarital carrier screening and a concomitant educational initiative focusing especially on school children. The reasons for this strategy were medical as well as socio-cultural: while the detection of heterozygotic carriers of the thalassaemia trait is rather simple (measuring red-cell indexes), the detection of homozygotes via prenatal diagnosis was both technically difficult and considered high-risk in the 1970s. Also, in cases of abortion, the procedure put immense psychological as well as physiological stress on women and their families. What was seen as even more problematic was that only after the birth of a first thalassaemic child, when the ‘problem’ had become apparent, could physicians offer counselling and prenatal diagnosis for further family planning. In contrast, a prospective diagnosis, implemented before young couples had any affected children, was seen to provide a more effective and less stressful point of intervention. There also existed specific socio-cultural reasons that made early screening and information of carriers a crucial point from the perspective of physicians: cultural modernisation and liberalisation of society combined with the economic hardships of post-independence, post-civil war and post-invasion Cyprus had created a new ‘custom’: younger couples after church-authorised engagement were allowed to live together – usually in the home of the bride – until the obligatory dowry could be accumulated and official marriage was possible (Loïzos 1975). This praxis of ‘co-residence’ before marriage, however, resulted in severe complications if a premarital screening after engagement eventually showed that both spouses were carriers of the thalassaemia trait. In those cases, there was a high risk that engaged couples broke off their relationship, leaving the bride – being no longer a virgin – with reduced or ruined chances for marrying. Parents of girls therefore tended to resist any recommendation for a screening to prevent the bride and her family from stigmatisation. From the perspective of the medical authorities, a screening before the engagement seemed the only instrument to overcome the opposition to the test.6 An educational campaign, targeting school children as well as the general population, also served another purpose that the physicians regarded as eminent: tenacious folk belief held that thalassaemia was likely to be a retribution for past sins of family members. Accordingly, many patients and their families suffered from stigmatisation, often husbands and wives blamed each other or their respective families for having ‘caused’ the disease and in rarer cases children were even isolated in the homes to conceal their existence. These frictions tended to reduce the compliance with the treatment regime so that the leading physicians of the Thalassaemia Centre felt obligated to react (Beck 2007). From their point of view, fighting superstitions and lack of knowledge was the crucial step, and a population-wide screening would have had the added benefit of demonstrating that the thalassaemia trait was widely distributed in the population, also reducing the danger of stigmatisation. The population screening-cum-educational campaign aimed at nothing less than a double reversal: to highlight what was invisible before – namely, that the asymptomatic trait was widely distributed in the population – and to collectivise health problems that were previously considered to be individual or familial. To achieve their goals, the physicians framed thalassaemia as a collective, ‘Cypriot’ problem and forged an alliance of quite heterogeneous actors: patient groups, politicians, international experts, as well as the leading clergy of the Greek Orthodox Church were commissioned for the prevention programme. While these participants all followed specific interests, the alliance consented to introduce a system of compulsory carrier 80
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screening and counselling to prevent carriers from marrying. In addition, a public education campaign was launched using media, schools and different social and cultural organisations; young adults were offered a carrier test. The cooperation with the Church was crucial, because all couples requiring the Church’s blessing for engagement and subsequent marriage have to present a certificate showing that they have been tested and counselled for carrier status. The test results, however, remain confidential, so that two carriers may marry. But since civil marriage has not been a legal option in Cyprus until recently, the testing programme was in fact compulsory for all marrying couples. The compulsory screening and subsequent information of carriers purposely and effectively added a new criterion to the deliberations in the context of arranging marriages. Until well into the 1980s, marrying in Cyprus involved a complex interplay of rational arrangements, moral and economic evaluations as well as emotional affections between both families and the prospective couple. ‘Love’ appeared rather as a result, not as the cause of a successful marriage: Traditionally, parents arranged marriages within their village to ensure that the combined property of the couple could provide a subsistence basis sufficient for the future family. Arrangements were often made without the knowledge and consent of the young people concerned. Since the early 1970s, however, first young men, then the girls as well, have been able to veto the decision of the parents (Beck 2005; Loïzos 1975). Among the criteria applied for decision-making, the economic, social and moral status of the respective families was the most important; both families would need to very closely scrutinise the other’s economic and social standing, which entailed negotiations to be pursued confidentially and in secret. After all, a marriage candidate turned down could mean loss of face for the entire family (Loïzos 1975: 517). In the agrarian society of Cyprus where conspicuous consumption until recently was largely impossible, the marriage market served as the primary arena for social distinction, a function that was preserved in the following years even under conditions of economic progress and love-marriage (Argyrou 1996). The pre-engagement screening provided – and still provides – an ‘obligatory passage point’ (Callon 1999) where health professionals have the opportunity to influence reproductive decisions of the young couples. To be sure, two carriers may marry if they decide to do so, and some do,7 but usually they make sure that their children are healthy by early prenatal testing and selective abortion. The ‘success’ of this educational campaign and the established public health programme has not only reduced the number of children born with thalassaemia in Cyprus virtually to zero (Angastiniotis and Modell 1998). It even has a remarkable impact on the British health care system, where many young Cypriot migrants who are intending to marry are demanding to be tested for the trait; 98 per cent of all British Cypriot couples in Britain are undergoing premarital testing on a completely voluntary basis (Gill and Modell 1998; Modell et al. 2000). The obligatory screening and counselling for thalassaemia in Cyprus is one of the most successful public health programmes – but it is also arguably the most criticised in the international bioethical debate, mainly because the screening is compulsory and violates the ‘right not to know’ (Hoedemaekers 1998). This accurate bioethical critique, however, does not take into account that the programme was specifically designed to better a public health situation that was perceived as unbearable, to destigmatise thalassaemia patients and their families, to overcome superstition and to provide carriers with a choice in a situation of discrimination. Also, the bioethical critique does not take into account why the programme is still unanimously accepted in the population more than 30 years after its inception. 81
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Newborn screening for Mukoviszidose (cystic fibrosis) in Germany Cystic fibrosis (CF) is a recessively inherited chronic disease that affects the lungs and digestive system. It causes the body to produce unusually thick, sticky mucus that clogs the lungs, leads to lung infections, obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food (Bush 2006). Worldwide, around 70,000 people are affected.8 Ever since the ‘cause’ of cystic fibrosis was located in mutations of a gene on chromosome 7 in 1989 (Kerem et al. 1989; Riordan et al. 1989), the genetics of the disease have been a site of great hope, disappointment and controversy (Holtzman 1992). Today, more than 1,300 gene lesions have been deposited in the CF database (Ferec et al. 2006). Among those afflicted that are classified by medical practices as of Caucasian ancestry,9 about 70 per cent have a mutation referred to as ΔF508 (Turcios 2005). The picture differs for people classified as of non-Caucasian ancestry. People who are homozygous with respect to relevant mutations will suffer from the disease, though its progression varies markedly between individuals. Carriers, i.e. people who are heterozygous, will be phenotypically asymptomatic and healthy, but will have a 50 per cent chance of passing on the mutations to their children. Increasing evidence pointing to the benefits of early treatment as well as its cost-effectiveness has led to the introduction of newborn screening (NBS) programmes in many Western countries.10 In 2007, most countries operate either one nationwide or a large number of regional programmes. The majority of programmes today employ a three-tier test sequence: a biochemical analysis of the level of a particular enzyme (immunoreactive trypsinogen or IRT), a DNA analysis to detect a certain number of mutations and a diagnostic sweat test, measuring the amount of salt in the patient’s sweat (Stern 1997). While the first tier is always an IRT measurement, some variation exists thereafter regarding the type of test and its sensitivity. A survey of 26 programmes in Europe shows that 19 employ mutational analysis, with a median of 31 mutations covering a median of 82 per cent of mutations in the screened populations (Southern et al. 2007).11 Carrier identification and related issues of informed consent as well as the rate of false positives have been intensely debated over the last 15 years (Decruyenaere et al. 1998; Fries et al. 2005; Parsons and Bradley 2003; Watson et al. 1991). Treatment of the condition involves predominantly dietary changes, physio- and breathing therapy, as well as the use of mucus-dissolving drugs combined with autogenic drainage. Improvements in treatment have meant that sufferers now have an average life expectancy of 37 and rising (Davis 2006). In Germany, where the disease is commonly referred to as Mukoviszidose from the Latin mucus for phlegm and viscidus for viscous or clingy, a national newborn screening covered by the national health service has so far not been introduced.12 A number of clinics throughout the country offer the service to those willing and able to pay for it. In 2008, the administrative body with the power to grant national health service approval seems to be close to commissioning a formal cost–benefit analysis. Provided this confirms the international status quo, approval may be granted and introduction into the standard state health sector programme may proceed. This is likely to take considerably more time and debate. The main patient organisation, the Mukoviszidose e.V. – the federal representative of several regional groups referred to as Regios – has been playing a very active role over the last 40 years. Apart from providing a point of contact for those concerned, the group funds applied biomedical research currently with €2.5m for a programme running 2008– 10. In 2006 the organisation also founded the Mukoviscidosis Institute – a non-profit, limited company – in order to initiate, provide support for and coordinate research, 82
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particularly (pre-) clinical trials and epidemiological surveys. The organisation is staffed inter alia with clinicians, and over the last few years has been lobbying for the introduction of a nationwide newborn screening on the basis that benefits of early treatment outweigh the risks, particularly to carriers. Large active patient groups such as described for other European countries or North America (cf. Callon and Rabeharisoa 2008) are still relatively unusual in Germany. The Mukoviszidose e.V. together with the German cancer relief programme Deutsche Krebshilfe e.V. form notable exceptions. In order to try to understand why Germany continues to be so reluctant to introduce a newborn screening programme despite an emergent international consensus, it is helpful to look in more detail at an existing screening programme at the obstetric clinic of the Technical University Dresden (TUD) in the federal state of Saxony – the only programme we know of which has secured outside funding to offer a screening to all couples free of charge at the point of service.13 The clinic has offered this screening since 1996 and continues to do so, but it has never lost the status of a pilot project. From 1976 to 1985, the TUD, then an institution of the German Democratic Republic, screened for cystic fibrosis as part of a newborn screening for phenylketonuria (PKU). This programme was terminated in 1985. In the early 1990s, after German reunification, the number of children with Mukoviszidose who presented at the obstetric clinic in Dresden at the very late age of five and six in very serious condition increased perceptively. The local clinicians, who had been involved in the early screening programme, were not prepared to put up with what they perceived as an unacceptable decline in standards of care and began to rally for support. By June 1996 they had succeeded in raising enough money from a number of predominantly public sources to begin a new screening programme. Following international standards, the screen is offered to all parents conditional upon their informed consent, which is obtained prior to birth. Full results including carrier status are communicated to the parents, extensive counselling is offered and the integration into the specialised cystic fibrosis care centre is arranged for affected children. On the surface, this is a trivial story. It speaks of a bureaucratic administration that is possibly a little slow in following an emerging international consensus on scientific evidence, cost–benefit and best practice. A policy network analysis might reveal the oftendivergent interests of lobbying groups and the complex structure of the German selfgoverning health system. Beneath the surface, however, it is the finer details that reveal the highly German specificity of this case that are instructive for the analysis of some rather less trivial issues. The Dresden programme informs parents of their child’s carrier status. Approval by the relevant ethics commission for this procedure’s informed consent protocol was granted in the 1990s. It is clear from our work that, today, several attempts in other federal German states to integrate programmes into standard care have serious difficulties in getting ethical approval for their respective protocols. This is mainly due to the German Society of Human Geneticists’ guidelines emphasising the right not to know, particularly for carriers:14 children ought to be protected from this information until they reach the legal age of consent. Two kinds of consequences arise from this stipulation: (1) the clear-cut distinction between DNA-based tests and conventional diagnostics speaks to fundamentally different frames of reference, namely human dignity in the case of DNA tests and pragmatics in conventional diagnostics; (2) procedurally, many attempts are being made at circumnavigating the bioethical frame, e.g. via lowering IRT thresholds in order to be able to invite child and parents to a sweat test without having to refer to a positive DNA result. The extreme sensitivity towards the ethical frame of reference means that 83
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informed consent procedures usually initiated in the third trimester of pregnancy have become central to screening discussions. In order to satisfy ethical review boards, informed consent forms often run into five to six pages of fine print. This increases parental insecurity and often leads to a refusal of the test without even reading to the end of the document. From a clinical perspective, the development and the application of such immensely complex and hard-to-use forms is simply judged impractical. As a result, many local screening programmes struggle to get off the ground. Moreover, the TUD programme currently considers substituting the genetic test for a second biochemical analysis (pancreatitis-associated protein assays), which is not ‘genetic’ and does not reveal carrier status, in order to avoid further difficulties in this area. This particularly strict reading of informed consent requirements raises issues, in Germany, of clinical pragmatics on the one hand and ethical reflection on the other. Both discourses centre on individual civic rights and moral exigencies. The biomedical–ethical debate aims to develop a protocol that is deemed to protect a universal individual from undue infringements of its basic rights as a human being – for all the right reasons we emphasise. However, this particular focus on an individual ethics sidelines at least one other important issue: screening programmes in major cities such as Berlin, that are inhabited by a significant number of people of non-European origin, need to deal with a large amount of heterogeneity with respect to the number and kinds of cystic fibrosis relevant mutations. A recent survey of European CF centres reports, for example, 31 different mutations for Turkish migrants (Lakeman et al. 2008). The mean detection rate of the three most commonly used panels lies at 44.9 per cent and can be expanded to 57.9 per cent when including 13 of these 31 mutations. The sensitivity of expanded tests is judged too low to warrant any kind of screening of Turkish immigrants in European societies (Lakeman et al. 2008: 32). These figures differ from the numbers for patients living in Turkey raising important questions about the reasons for this effect (Schoorl et al. 2001). In the context of this paper, it is of particular relevance that these figures raise questions of human biological diversity and ethnic belonging, the medical construction of a (sub-)population, population-based protocols as well as issues of access to health care and research priorities in the field of migrant health. These are all questions with, inter alia, an ethical dimension. Yet in Germany, and possibly elsewhere, these questions are debated in the specialist circles of paediatricians and human geneticists only. Necessarily, this debate is focused primarily on the technical and practical issues of test sensitivity and specificity as well as matters of the various protocols’ efficiency and effectiveness, while the political-cum-ethical implications are muted. The desideratum of a wider ethical, political and public debate is entirely muted despite the fact that in the large cities, such as Berlin, about a third of the population is considered of non-German origin (just under 4 per cent of Turkish origin).
Discussion Continuities and ruptures Genetic tests are embedded in and contingent on material-discursive practices with their own specific historicity. On the basis of our case material, we focus on three specific areas of continuity, connection and rupture. We are aware that this discussion needs to be read with an appreciation of the continuity of scientific knowledges, particularly the 84
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continuous history of genetics (Müller-Wille and Rheinberger 2007; Rheinberger and Gaudillière 2004), from structuralist and functionalist concepts of the gene to postgenomic notions of ‘gening’ (Fox Keller 2006; Griesemer 2002; Jablonka and Lamb 2006), which situates the lingering notions of determinism as well as the expectations invested in the technology by medico-technological practices as well as public discourse. Also, genetic tests are almost always embedded in a testing regime for biological information, which spans the continuum from genotype to phenotype. Within such regimes, the usefulness of genetic information is certainly not increasing with expanding post-genomic knowledge about the complexity of aetiologies.15 Continuity of patterns of meaning making and social poetics Understanding the specific formation of the genetic testing regime for thalassaemia in Cyprus becomes possible only through recognising how the condition had been handled before genetic knowledge as a set of post-war biomedical knowledge practices arrived on the scene. In Cyprus, thalassaemia has always been a highly visible issue. It has been firmly integrated into social and cultural patterns of meaning-making: explanatory models have been attuned to highly localised practices of arranging marriages, organising and understanding kinship and sanctioning breaches of established social norms. It would be misguided to assume that genetic testing has simply been superimposed on this existing constellation. Cypriot medical researchers and clinicians were acutely aware of the possible social and political consequences their knowledge might have. They carefully aimed at integrating these new technological possibilities into existing social practices; and these new options were adopted by non-experts according to their specific rationales. Hence, what unfolded in Cyprus is not adequately described as a straightforward roll-out of a new technology but rather a slow process of translation (Callon 1999) and situated learning (Chaiklin and Lave 1993): not centrally controlled but carefully and ingeniously appropriated by a multiplicity of networked actors. The result is a changed pattern of practice, which now includes premarital screening, pre-implantation diagnostics and prenatal genetic tests (cf. also Franklin and Roberts 2003). Today, after civil marriage without a screening certificate has become legal, the programme is still adopted unanimously: an in effect compulsory, directive and invasive screening programme is legitimated bottom-up by everyday practice. Instead of conceptualising genetic testings and screenings as having preconfigured ‘politics’ and deterministic ‘effects’ independent of social contexts, we advocate a perspective that emphasises processes of social poetics (Herzfeld 1997: 139–55) where actors pragmatically integrate new – non-neutral – options with pre-existent cosmologies, practices and institutions. Political-regulatory continuity The German case study shows another kind of historical continuity. Here, the collective memory of the Holocaust and the atrocities committed against the disabled by the medical establishment during Nazism have greatly sensitised an entire generation of physicians as well as public discourse and political decision-making (Müller-Hill 2000; Paul 1995) to practices that many commentators today problematise as neo-eugenic (Duster 1990). Thus, for all the right reasons, the involvement of a genetic test as part of a screening programme has immediately triggered an ethical debate. At its centre stands the well-rehearsed discursive figure of the ‘slippery slope’, i.e. the perceived inevitable 85
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dynamic from neonatal to prenatal and preimplantation diagnostic procedures and the subsequent questions of reproductive decision-making and eugenic practices (Ethikrat 2003). The debate is institutionalised at many different levels, and its intensity provoked contributions not only from specialists in the medical or ethical field but also from public intellectuals like Jürgen Habermas who diagnose the advent of a ‘liberal eugenics’ (Bundestag 2001; Habermas 2001). This worry about a resurgence of eugenic practices is by no means confined to Germany (cf. Nelkin and Lindee 1997). Yet it is important to note the unique discursive constellation here. Bioethical ‘principlism’ (for a critique, see Jonsen and Toulmin 1988) combines readily with biomedical ‘factualism’, both being impregnated by universalistic reasoning (Honnefelder et al. 2003). More often than not, the ‘factual basis’ of the debates, informed by biomedical perspectives, remains unchallenged (Light and McGee 1998; Turner 2003; Wertz 1998). Questioning this basis and its dynamic, Margaret Lock rightly speaks of the tenacity of hyperbole (Lock forthcoming). Hyperbole refers to the visionary rhetoric of an ‘enriched future’ relentlessly emanating from many quarters of biomedical and genetic science – despite the growing realisation of biological complexity emerging from everyday work in the laboratories that precludes ‘simple’ models of genetic determinism. Many, including Lock (Lock 2005), contextualise this tenacity of hyperbole: in the specificity of the scientific field (Bourdieu 1975), in the sciences’ questionable self-conception as modern (Latour 1993) and the economic and institutional dynamics of emerging fields of research (Hedgecoe 2003). In Germany, however, the link into collective memory practices and a historical continuity of regulatory decision-making means that much of the critique and worry immediately attaches to hyperbole – in a reflex-like, powerful link that is hard to question in a public arena. While this is not problematic per se, we argue that the bioethical debate in Germany runs the risk of ‘bioethical reductionism’ and thus hinders a thicker understanding of situated genetic screenings and testings. Local ruptures A brief comparison with the introduction of thalassaemia screening in the UK reminds us that continuity must not be mistaken for smooth progress. Rather, local ruptures can also result: prevalence of thalassaemia amongst migrants of Mediterranean and Pakistani background in the UK was deemed high enough to warrant screening in 1977 (Modell et al. 2000). An information campaign was required that would target this subpopulation. British medical practitioners were very much aware of international bioethical debates as well as the politically sensitive nature of dealing with ethnic minority groups. Hence, voluntary participation, the protection of individual and group autonomy and informational rights as well as informed consent and discrimination concerns played an important role in the set-up of the screening programme. The result was an information campaign targeting all pregnant women of ‘not North European origin’ (Modell 1986: 388) in the country. While this campaign was conceived not to discriminate unnecessarily against people, it did not discriminate enough between populations for the campaign to have an effect on the targeted people. It was considered a failure according to its inventors because it did not single out and speak to the people who were intended as the audience. While this comparative anecdote by no means warrants ignorance towards bioethical considerations and political sensitivities, it does open an important line of argument suggesting that bioethical positions are not universal in nature but do need to be attuned to the specific local and historical context within which they operate. 86
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Ordering processes Against the backdrop of these specific continuities and ruptures, which have shaped the translation of particular knowledge practices into local contexts, the following sections discuss the role of genetic testing and screening regimes in altering ordering processes. By ordering we mean the manifold classification work (Bowker and Star 1999) which emanates from communities of practice (Lave and Wenger 1991).16 Many effects of testing and screening have been discussed at the level of the individual – self-consciousness, personhood, corporeality – and the level of discourse regarding concepts of health, illness and normality. In keeping in line with our social anthropological analysis, we focus on the level of sociality, i.e. on the way knowledge practices change collectivising agency and help to shape a sense of belonging, which we discuss below as bio-cultural intimacy and biosociality. Discrimination and de/stigmatisation The Cypriot case illustrates how explanations for health and illness are produced in highly localised patterns of meaning-making. Often, these explanations have been invested with strong moral connotations. Suffering from thalassaemia was readily identified as a divine punishment for a breach of established social norms. Afflicted people and their families were stigmatised for their moral failure and shunned by the community. Introducing the screening thus ‘rationalised’ and ‘objectified’ thalassaemia. It set off a process of Entzauberung, i.e. the demystification of a phenomenon, and its translation into Western modernist thinking (Weber 1922/1988). The cause of hereditary diseases, then, is considered no longer a moral but a molecular failure. This reallocation of blame has the potential to destigmatise the individual. Furthering this process is an evolutionary narrative that depicts the ‘problem’ as collective fate. Citizenship The tenacity of hyperbole (Lock forthcoming) precludes a public debate about testing as a situated technology in a specific institutional and cultural setting. What is at stake, however, are the ontological and epistemological dimensions of ordering processes as well as their biopolitical effects. Genetic testing understood within hyperbole confronts those positively tested not with an illness but with a genetic disease. In public discourse, this label readily preconfigures the conditions of possibility (Foucault 1972) and confers identity. The Mukoviszidose e.V. is trying to escape from this trap by understanding test results not as prefigured genetic knowledge but as genetic information, the interpretation of which is neither certain nor merely a matter of genetic science. Yet they stay within the dialectic of hyperbole insofar as they position themselves relative to many hypothetical ‘if … then’ scenarios rather than voicing their justified concerns about current medical practice and care. Understanding a genetic test as a part of a biomedical platform (Keating and Cambrosio 2000) offers a different analytical angle. It positions tests as a social practice entangled with biomedical technologies and knowledges, patient groups, economies and embedded within a certain cosmology (Herzfeld 1987). A platform thus marks an ordering practice that translates existing meaning-making practices to arrive at new ‘systems of claims and ethical projects that arise out of the conjugation of techniques used to govern populations and manage individual bodies’ (Nguyen 2005: 126) – it thus characterises a 87
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biopolitical process, which provokes what has been termed genetic or therapeutic citizenship (Heath et al. 2004; Nguyen 2005). German screening debates, on the other hand, are still caught up within hyperbole. Paradoxically, this constellation rests on the very notion of essentialising biological citizenship it is trying to denounce. This dilemma crystallises in the fact that the debate about genetic testing and screening in the Turkish migrant population is framed as an economic rather than ethical issue. Genetic tests here are integrated into a biomedical platform, which makes it difficult to handle biological-cum-ethnic-cum-cultural difference. The North American model of culturally sensitive care has an increasing tendency to produce ethnicity as a readily accessible marker for biological difference, thus biologising and geneticising cultural difference (Duster 1990; Duster 2006; Lipphardt and Niewöhner 2007; Niewöhner 2007). The German health system, on the other hand, produces problematic injustices through ignoring biological difference altogether. Bio-cultural intimacy, biosociality and the gene pool as a ‘tragic commons’ This last aspect takes the analysis a little beyond clinical practice and into the changing scientific discourse on thalassaemia and cystic fibrosis. In both cases, the respective genetic mutations are thought to provide resistance against malaria and a number of gut infections, respectively. It is hypothesised that the differences in prevalence in diverse populations are the outcome of selection processes due to specific environmental conditions – namely malaria and cholera. There are many problems with these kinds of evolutionary narratives, which we cannot discuss here. Irrespective of these problems, however, these widely publicised discourses do contribute to a reworking of narratives of collective pasts: they invoke a shared history of migration, adverse living conditions and hardships. Alongside other (f)actors, they create and preserve a sense of what we call bio-cultural intimacy. With the notion of ‘cultural intimacy’, social anthropologist Michael Herzfeld refers to those aspects of cultural identity that are considered a source of embarrassment in situations of contact with outsiders. Nevertheless, it provides ‘insiders’ with an assurance of common sociality and serves as a central source of defiant pride, critical self-interpretation or -rationalisation (Herzfeld 1997: 3). Similarly, but stressing the effect of scientific knowledge and classificatory practices, social anthropologist Paul Rabinow (1992; 2007) coined the term ‘biosociality’ to refer to the potentiality of genetic diagnoses to create new identities (e.g. carrier of mutation X), collectivities (e.g. descendants of the first carriers of mutation X) and collective forms of action (e.g. the creation of patient/lobby groups that have a ‘mutation’ as common denominator) (cf. Gibbon and Novas 2007). While Rabinow’s biosociality points to explicit knowledge, truth and action, Herzfeld’s concept refers more to implicit cultural cosmologies, experience and reflection. We suggest combining both aspects in the term bio-cultural intimacy in order to analyse historical, cultural and social contingencies in the way biomedical options are appropriated and embedded into everyday life via meaning-making practices. Applying this perspective, the tension between scientific and everyday knowledges, the potential conflict between scientifically validated truth and experience-based shared convictions, or the clash between hegemonic rationalities and heterodox reasoning can be analysed. Bio-cultural intimacy enables Cypriots to interpret thalassaemia as a collective ‘ethnic’ fate, to understand the gene pool as a ‘tragic commons’ that requires collective management that the traditionally weak state is only insufficiently able to provide, and which accordingly 88
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requires collective forms of self-knowledge, self-representation and self-intervention. In contrast, the question of how to manage the risk of cystic fibrosis for Germans is understood against the backdrop of Nazi eugenics, discussions about human dignity of ‘unborn life’ and an ethics of individualism that is implemented in the context of a welfare-state system that (still) grants to all citizens equal access to medical care and diagnosis. Particularly the latter section of the analysis illustrates the need for concepts that take seriously the dialectic of and the interdependence between biology and culture. Local biology (Melby et al. 2005) is such a concept, as it argues that lived bodies are always shaped by the irresolvable interdependence of bios, social practice and local cosmologies (Lock and Kaufert 2001). In the same way that the science behind genetic tests fosters memory politics by reworking narratives of a collective past, it also shapes the future by making up local biologies (Hacking 1986, 1995) through intervening in human reproduction. The immediate consequences of this perspective are methodological and epistemological: if thalassaemia is not simply a molecular disease investigated by biomedical methods and if genetic screenings are not simply a social practice investigated by social scientists, then we need to pay attention to the way thalassaemia in Cyprus is produced as a result of a complex material-discursive assemblage (Rabinow 2003) involving ill people, postcolonial sentiments and predispositions, screening technology, labs, traditional marriage practices in transformation, the Church, evolutionary biology, genes, feelings of communality and collectivity, and so forth. Taking this complexity of interacting factors, facts and artefacts seriously means employing methods that are able to symmetrically register material, social and semiotic practices. And we need an epistemology, which sets a different agential cut, i.e. a perspective which does not reproduce existing dichotomies of nature and culture but allows materiality and discourse to make their contribution to stabilising particular lived bodies (Barad 2007; Lock 2005).
Notes 1 See NIH 2007 for a detailed version of these definitions: http://ghr.nlm.nih.gov/handbook/testing/ genetictesting (accessed 27 August 2007). 2 For further detail, see the Wilson–Jungner criteria for appraising the validity of a screening programme: www.gp-training.net/training/tutorials/management/audit/screen.htm (accessed 27 November 2007). 3 We omit here the symptomatic complexities that arise when different mutations are combined (Weatherall and Clegg 2001). 4 This passage and other information on the early phases of the thalassaemia programme in Cyprus are based on a series of biographical interviews – conducted by SB – with involved physicians, scientists and representatives of patient groups; here the quote is from Minas Hadjiminas, MD, 2004. 5 The treatment costs of a thalassaemia patient from birth to 30 years are calculated to exceed £250,000 (Gill and Modell 1998: 761). 6 Biographical interviews with Michalis Angastiniotis, Minas Hadjiminas; cf. also (Book 1980: 16f). 7 Couples, where both partners are heterozygotes, tend to have fewer children (up to 20 per cent) than to be expected (Angastiniotis and Modell 1986). See also Petrou et al. (2000). 8 Current figure from the Cystic Fibrosis Foundation. See www.cff.org last (accessed 22 November 2007). 9 We recognise that the classification ‘Caucasian’ is problematic in many ways (M’charek 2005). Throughout this text, this terminology does not reflect our own perspective but the dominant narrative in evolutionary biology and medicine. 10 As screening programmes have not been running for long enough to show an effect on life expectancy, benefits have been discussed controversially (Koscik et al. 2005; Rock 2007). 11 NB: It is Austria, Northern Ireland and some of the Italian regional programmes that operate without a genetic component (Southern et al. 2007).
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12 Information gleaned from interviews conducted by JN throughout 2007. 13 See www.neoscreening.de/DGNS/frame_Website.htm for further information (accessed 11 November 2007). 14 See Stuhrmann et al. (2006) and www.gfhev.de/de/leitlinien/gfh.htm?Submit2 = Liste+anzeigen for further information on earlier guidelines. 15 See also the debate on microarray technologies (Shuster 2007). The nevertheless increasing use of this information is driven primarily by the involvement of the pharmaceutical industry, e.g. via the marketing of drugs targeted to specific mutation profiles (Hedgecoe 2004; Kollek et al. 2004; Meyer 2004). 16 NB: this classification work orders not only what is visible and how (epistemology) but it also stabilises phenomena (ontology) (Barad 2007).
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7 Nutrigenomics Ruth Chadwick
Introduction: nutrigenomics Nutrigenomics refers to the application of genomics in nutrition research, enabling associations to be made between specific nutrients and genetic factors, e.g. the ways in which foods or food ingredients influence gene expression. Nutrigenetics is the study of individual differences at the genetic level influencing response to diet. These individual differences may be at the level of single nucleotide polymorphisms (SNPs), i.e. variations in a single base pair, rather than at the gene level. To some extent the terms are used interchangeably and from this point on I shall use the term nutrigenomics, abbreviated to ngx.
Why and how ngx? Ngx should facilitate greater understanding of how nutrition affects metabolic pathways and how this process goes awry in diet-related diseases. How this understanding can be implemented in practice, however, is a matter of considerable debate. When potential applications in society have been discussed, attention has been focused on personalised nutrition, on the one hand – it has been envisaged that nutrigenetics may lead to dietary advice targeted at individuals – and public health, on the other. Ngx might be involved both in public health strategies to reduce the incidence of obesity or of diseases in which diet plays a part, such as diabetes; and in individual dietary decisions, whether or not on the basis of professional advice, to achieve specific goals, e.g. avoidance of allergy or enhancement of health. There may also be applications not integrally connected with health: sportspersons, for example, may want to achieve particular targets with diet. There are ethical issues common to all of these: the conditions under which genetic testing should be offered, the control of the information acquired (who has access to it and what interests need to be protected) and the potential implications for the relationship between individuals and the food they eat. In this regard the potential use of ngx for aesthetic purposes is also worthy of consideration: for example, there may be applications relating to taste and appreciation of food – which could also have health-related sideeffects, such as enhancement of taste experiences for those who need to be encouraged 94
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to eat more. This may be useful in designing food products for particular population groups: elderly persons, for example, may have specific needs in this regard (Raats et al. 2008). Potential applications of ngx are not, however, confined to human beings: ngx for other species, including pet ngx, are already under way (Lopatin 2008).
A case of genomics hype? In relation to all the above, there is a preliminary question, however, concerning whether and to what extent it is worthwhile going down the ngx route – will the science deliver? What are the opportunity costs? In several contexts critics are dubious about the publicity and ‘hype’ that has surrounded developments in genetics and genomics, and have argued that putting so much emphasis on genetic solutions in health care may have the undesirable direct or side-effect of neglecting other ‘lower tech’ solutions to health care problems. In the case of food, this may appear to be an even more justified concern. While similar debates have surrounded the development of pharmacogenetics and pharmacogenomics in health care, there is a crucial difference between pharmaceuticals and foods. Whereas pharmaceuticals are well-defined compounds aimed at specific targets, foods are complex substances that have multiple effects on different pathways in the body (Müller and Kersten 2003). There are difficult issues about the research that will be needed in order to achieve statistically significant and meaningful information (Ioannidis 2003), in terms of both the size of the studies required and the reliability of the personal health information with which it will need to be correlated. Nevertheless there may be important information to be gained from knowing about individual differences, which produce results that are more effective than generalised population-wide advice on diet. The health benefits of omega-3 are widely advocated, and flax seed oil is one of the rich sources: it has beneficial anti-inflammatory properties. However, people lacking the enzyme D60 cannot metabolise flax seed oil and would be better off taking another source (Weightloss-Information 2004). There are also individual differences in uptake of lycopene, which has anti-oxidant properties, from tomatoes, although this may be due to a number of factors (Stahl and Sties 1992). In relation to issues such as these, ngx follows in the tradition of ‘health foods’ and dietary supplements, and mechanisms for health ‘enhancement’ generally. It thus also has a role in the ongoing debates about the distinction between therapy and enhancement, and may be associated thereby with the wider promises about human enhancement: although ngx may have a place in treating or preventing diet-related diseases, the market for applications perceived as health-enhancing may be even greater. A possible application of ngx, for example, might be in relation to ‘functional foods’ – but surely, it might be argued, all food is functional, in some sense. This indicates the need to be more precise about what exactly is mean by ‘functional’. Functional foods are those that have, or claim to have, a specific heath-promoting or enhancing effect over and above their nutritional content (see Chadwick et al. 2003). In this regard they are arguably closer to drugs than to foods as conventionally understood. Products currently on the market include cholesterol-lowering foods and probiotic yogurts. There have been a number of ethical concerns associated with functional foods, arising partly from the fact that, being foods, they are tested for safety but not for efficacy, unlike drugs; they are placed in supermarkets alongside traditional products and yet they might not be suitable for all those who buy and consume them. The way in which they 95
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are advertised, moreover, is potentially misleading, using role models, for example, who are apparently not in the relevant high-risk group, to eat the products in TV ads. As the range of products including particular ingredients increases, there are further concerns about overdosing – e.g. in the case of children’s diet. As the regulatory system approves these products on a case-by-case basis, there are clear difficulties about how to control the global effect on diet. In the case of functional foods the case for using genetic information to inform dietary advice may be sharper than with other foods. They are foods introduced into the market with a specific health-promoting claim, but as their number increases it may be important to have regulatory mechanisms which ensure they are used in the intended manner. In this chapter, I will consider in turn the issues related to individual and public health applications of ngx.
Applications for the individual: ‘tailored’ dietary advice There have been predictions that research into variation in the genome will facilitate advice tailored to the individual. The UK Department of Health 2003 White Paper stated: We will learn more about the genetic features of common diseases such as heart disease and diabetes and the way external factors such as diet and smoking interact with our genes to increase the likelihood of developing a given disease … There will then be the option to test people for a predisposition to disease, or a higher than normal risk. Treatment, lifestyle advice and monitoring aimed at disease prevention could then be tailored appropriately to suit each individual. (Department of Health 2003) Different questions arise here: first, concerning the extent to which individuals will want personalised dietary advice. While there is some empirical evidence that ‘personalisation’ is found attractive in pharmacogenomics (Fargher et al. 2006), the decisions an individual makes about what to eat are arguably much more complex than the decisions about following a doctor’s prescription of a drug. These decisions are influenced to a greater extent by factors such as anticipated pleasure. Individual response to information about their genetic predispositions is also difficult to predict, ranging from efforts to change lifestyle to fatalism and resignation. Although there is a history of concerns about direct to consumer marketing (see Advisory Committee on Genetic Testing 1997; Chadwick and Hedgecoe 2002; Human Genetics Commission 2002), there have been some moves towards marketing in this from companies such as Sciona, which initiated direct-to-the-consumer marketing of genetic testing in relation to nutrition. On the Sciona website, mycellf, the company is described as a leader in ‘personal genetics’ and offers guidance on the nutritional approach to wellness: Your unique genetic profile is the key to understanding how your body works, including which diet and exercise programs will bring you the results you want and which health and nutrition programs will lead to long-term wellness. You are oneof-a-kind. You have the right to know as much as you can about your own physical well-being (Sciona 2008) 96
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Some see it as empowering of the individual that such opportunities exist: Milunsky (2001) provides a strong statement of this view: While rapid progress continues, there is much you can do now for yourself and loved ones. Know your family history, be cognizant of your ethnic origin, determine your genetic susceptibilities, opt for necessary genetic tests, take preventative action, establish appropriate surveillance, and seek pre-emptive treatment where applicable. In this way, you can exercise control over your genetic destiny, secure your health and – in more ways than you yet realise – save your life. (Milunsky 2001: xv) This quotation suggests that there are strong benefits for the individual from accessing their personal genetic information, by whatever tests are available. The Food Ethics Council, however, in its report Getting Personal, showed that personalisation has both a political and an economic dimension (Food Ethics Council 2005). In so far as it is political, it is supported by and reinforces an ideology of individual choice, but in so far as it is an economic project, it facilitates putting the burden of responsibility on consumers for their own diet and thus health. The concept of ‘personalisation’ thus includes a number of dimensions, from personal choice to personal responsibility. It is important to note, also, that there are competing interpretations of ‘choice’ itself and of the underlying ethical principle of autonomy which supports it: and these are emphasised in different political philosophies which will affect public policy and regulation (cf. Korthals 2004). According to liberal political philosophy, the responsibilities of government regarding food are limited to ensuring safety and choice based on the provision of adequate information e.g. through labelling. Despite the fact that some research shows only about 25 per cent of consumers read labels (Food Standards Agency 2005), this approach depends on the combination of a particular view of individual choice and the belief that autonomy is facilitated by the provision of information.
Autonomy Arguably the most common application of the notion of autonomy in the food context is this notion of consumer ‘choice’ (in the case of food, choice regarding both what to buy and what to consume, literally). How autonomy is understood, however, in nutrition as in other contexts, depends on the underlying theoretical perspective, which may not always be transparent. From a utilitarian point of view, individuals are deemed to make choices in order to maximise their own happiness or to maximise the extent to which their preferences may be satisfied. There is an issue as to whether preferences should be informed ones: on this model consumers are seen as benefiting, by having information that will enable them to make and act on choices that are most likely to maximise satisfaction. Nutritionists know only too well, however, that having information about what food is most likely to contribute to health has to compete with other facts, such as the seductive allure of ‘bad’ foods. There is no constraint that enables us to say that informed choices will be reflected in healthy choices, rather than choices for pleasure, although of course for some people these may coincide. If such a constraint is wanted, it is necessary to turn to a competing conception of autonomy, as expressed in the notion of making the ‘rational’ choice, where ‘rational’ 97
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means not maximising preference satisfaction but acting in accordance with what the chooser could will everyone in that situation to choose. This interpretation has its historical roots in the philosophy of Immanuel Kant. Thus if, for the sake of argument, it is known that certain foods are detrimental to health, there are grounds for thinking that an autonomous Kantian agent would not choose them. Surely, the rational agent could not consistently will that everyone should knowingly choose to eat food that would be likely to shorten life, e.g. by increasing health risks such as obesity. Kant himself, in expounding his philosophical position, said relatively little specifically about food, but he did have quite a bit to say about the individual’s duties towards the body. While today, confronted with an increase in binge drinking and associated violent incidents, what he said may appear to be no more than quaint, it is indicative: the body must be frugal in its needs and temperate in its pleasures … We must be frugal in eating and drinking … with regard to food, men may be led to over-eat even when the food is bad. To depart … from the path of moderation is a breach of our duty to ourselves … Which of the two vices, gluttony or drunkenness, is the more contemptible and the baser? Gluttony is the baser of the two, for drink promotes sociability and conversation, and inspires man … [gluttony] is far baser, because it neither promotes sociability, nor does it enliven the body, but is purely bestial. (cited in Beck 1963: 159) This second interpretation of choice arguably finds expression in the 2005 White Paper from the Department of Health, entitled Choosing Health (Department of Health 2005). This White Paper, while not concerned with genetics, focuses on strategies to encourage individuals to ‘choose health’, while claiming to want to avoid a ‘nanny state’ approach. The sense of choice at stake is not the liberal one, however, because it is assumed that not any choice will do: there are right answers about what to eat. It would be a mistake to present the issue for today’s consumers as reducible to a choice between making decisions as utility maximisers or as Kantian agents. There is at least one further dimension to the issue. It is important to distinguish between specific (local) eating choices (‘I want this hamburger now’) and making more global choices about what sort of food to eat (‘I will not eat veal’). This sort of choice directs us to another sense to the notion of making an autonomous choice, and that relates to choosing in relation to an identity. Individuals not only make choices about what to do in a particular situation, they also choose, at least to some extent, what sort of person they want to be, and this choice is expressed, not exclusively but to a considerable extent, through food. Individuals make statements about themselves when they choose to be vegetarian, to patronise McDonald’s, to diet or to embrace obesity. In contexts of uncertainty about the integrity of food production and the supply chain, they may choose to embrace what is perceived as ‘natural’, as a way of coping with this uncertainty (Lupton 1996). Moreover, such identity issues may concern not only individual but also group identity: people make food choices in social contexts, in relation to economic circumstances as well as peer group behaviour.
Sport Given the prevailing individualistic framing in ethics, and the role of the individual competitor in sports, we have to take seriously the possibility that a major driving force 98
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in ngx will be the possibilities of enhancement of performance through paying attention to such advice as the science can offer. If this is the case, then questions arise as to how this will bear on sports ethics (Chadwick 2005). The significance of diet for the sportsperson was already long ago recognised by Aristotle, who used it in the Nicomachean Ethics as an example in his attempt to demonstrate his doctrine of the mean. The mean has to be determined not by seeking the average: what is right in one context may not be for another, just as the athlete has to eat quantities that would not be appropriate for the ordinary man: If ten pounds are too much for a particular person to eat and two too little, it does not follow that the trainer will order six pounds; for this is perhaps too much for the person who is to take it, or too little – too little for Milo, too much for the beginner in athletic exercises. The same is true of running and wrestling. [Aristotle 1908: 1106a17] Aristotle’s point related to quantity: now the issue turns much more on the qualities of particular foodstuffs, taking account not only of differences between occupational groups, but also of individual genetic susceptibilities. As we consider the prospects of ngx for sport, however, is the effect of ngx really likely to be significant in terms of added value, over and above other kinds of nutritional research? Even if it were, there are generic ethical issues associated with the personalisation approach – which has been described as the ‘boutique’ model for the implementation of genomic research in practice (Daar and Singer 2005). This approach is, arguably, likely to benefit only the better-off consumers within and between societies. It is necessary to consider other forms of implementation that have the potential to benefit populations and population groups, including underserved ones.
Public health Ngx might not only be targeted at individuals but could be involved in public health strategies to reduce the incidence of diseases and ill-health in which diet plays a part. There are different ways in which this might be envisaged. First, there might be a case for population-wide screening. Whereas genetic testing applies to individuals, who have sought or been referred for testing, screening applies to populations or population groups where there is no evidence to suspect that any given individual has the predisposition or condition in question (Chadwick 1998). Newborns, for example, are screened for phenylketonuria (PKU), which is a condition where the sufferers do not have the ability to break down phenylanaline. It is treatable by diet avoiding phenylalanine (Gütter and Guldberg 2003). However, in the case of ngx, most of the possible applications will not be concerned with single gene disorders of this type, but with genetic factors affecting susceptibilities to common diseases and conditions. Criteria for the introduction of population screening programmes include the provisions that the condition sought must be important and there must be some scope for action in the light of a positive result (Wilson and Jungner 1968). It is now widely accepted that there is a national and indeed international problem of obesity. While possible causes include increased prevalence of over-eating and a ‘couch potato’ lifestyle, there has also been talk of a ‘fat gene’ (Henderson 2007). This way of speaking, in terms of ‘a gene for’ a condition, is potentially misleading, insofar as it inaccurately 99
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represents the science, and reinforces a tendency to overlook other causes and solutions. The mysterious fact of the prevalence of slimness in France, for example, in the light of dietary patterns, has been attributed, among other factors, to portion sizes and to the protective effect of red wine. However, suppose it was found that there was a genetic variant (not necessarily a single gene) – call it variant A – that predisposed to obesity when combined with food Y. At what point would it be worth carrying out population screening for variant A, as opposed to giving generic lifestyle and dietary advice? The scope for action, in the event of a positive result, would be to counsel those so diagnosed that they had a higher than average risk and then give dietary advice specific to their situation. There are different aspects to the judgement about whether the genetic screening is worth doing. First, there are both advantages and disadvantages to undertaking the screening (Shickle and Chadwick 1994). Even putting aside the issue of false negatives and false positives, there is a concern that those identified as negative may feel able to eat anything they like with impunity. There is a parallel to be drawn here with the cases of smoking and alcohol. Not everyone who smokes will contract lung cancer; not every drinker will succumb to alcoholism. There are differences between individuals, including at the genetic level, which affect their risks of these outcomes. It is easy to understand the attractions to an individual who likes to smoke, of being giving the ‘all clear’ to other relevant genetic predisposing factors. However, that does not mean that there will be no other deleterious effects as a result of smoking cigarettes. This situation is where potential problems about interpreting risk information become apparent. Population groups In arguing against the boutique model as applied to pharmacogenomics, Daar and Singer suggested that ngx could be used for the benefit of underserved populations in less developed countries (Daar and Singer 2005). The question arises as to whether there is a case to be made that ngx, similarly, could be used for the benefit of specific population groups, whether these are defined in terms of geographical ancestry or in some other way – e.g. groups who are undernourished, or who are suffering from eating disorders. Here the relationship between ngx and taste becomes relevant (El-Sohamy et al. 2007). Given individual differences in perceptions of bitterness, for example, which may have a genetic basis as well as being due to differences in age and ethnicity, the identification of these factors may facilitate the development of food products particularly suited to particular population groups and be harnessed for public health goals. Participation in association studies and biobanks In order to implement either diet-related genetic testing of individuals or population screening, however, it is necessary to undertake the ngx research to establish the associations between genetic factors and response to foodstuffs and food ingredients. While it is one aim of initiatives such as UK Biobank to collect both genetic and environmental information in order to study the causes of common diseases in adult life, establishing links between genetic factors and response to diet will arguably be more difficult that establishing the genetic links with adverse drug reactions. For some time national dietary surveys have been examining the link between food intake and nutritional status. These 100
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surveys have been controversial precisely because they involve the collection of blood samples from healthy individuals. Where the acquisition of genetic information is at stake, the issue becomes even more complex. Collection and storage of genetic information in a biobank gives rise to questions about control, access and use of that information. An issue for research ethics committees looking at national dietary surveys has been whether or not individuals give voluntary informed consent. In the case of contributing to genetic research resulting in the establishment of a biobank, there have been queries about whether such consent is even possible (House of Lords 2001; Chadwick 2001). Privacy has also been generally considered to be a principal concern in relation to databases and biobanks. Where information relevant to individuals is stored, and its use could be detrimental to their interests, questions immediately arise about who has access to it. This issue is important, not only in relation to worries about access by third parties who might want to misuse it. For example, suppose that at some point in the future it became common for nutritionists to give dietary advice based on individual differences at the genetic level – can privacy be assured? There are increasing indications that privacy as a promise can no longer be guaranteed (Lunshof et al. 2008) and attention in turning to alternative ways of framing the issues to emphasise the interests of populations as well as individuals (Chadwick and Berg 2001; Knoppers and Chadwick 2005; HUGO 2007). Indeed, the language of ‘global public goods’ has been applied to genomics (Thorsteinsdóttir et al. 2003) and to genomic databases (HUGO 2002; Chadwick and Wilson 2004). These issues, however, are not specific to ngx. What is particularly important as an issue with regard to ngx is the difficulty of establishing the associations. While the reliability of associations is an issue in general, as noted by the HUGO Ethics Committee in its Statement on Pharmacogenomics, Solidarity and Equity (2007), there is a particular problem with ngx in that it depends on the research participants keeping detailed and accurate diet records, in which the probability of error cannot be ignored.
Conclusion The extent of the role that ngx will play in individual and public health remains unclear. In so far as the science can deliver and it does have a role to play, however, there will inevitably be associated ethical issues. Those focused on individuals cannot be fully distinguished from those of public health, as both will depend on collective action, in the form of association studies and biobanks. This link in turn leads to questioning the reliance on individualistic models of ethics, in the light of the need to address diet-related issues affecting population groups, including underserved populations
Acknowledgements The support of the Economic and Social Research Council (ESRC) is gratefully acknowledged. The work was part of the programme of the ESRC Genomics Network at Cesagen. This chapter is based on an earlier version – a lecture presented to the Nutrition Society, published in Proceedings of the Nutrition Society (2004) 63: 161–6. 101
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References Advisory Committee on Genetic Testing (1997) Code of Practice and Guidance on Human Genetic testing Services Supplied Direct to the Public. London: Health Departments of the United Kingdom. Aristotle [1908] Nicomachean Ethics, translated by Sir David Ross. Oxford: Clarendon Press. Chadwick, R. (1998) ‘Genetic screening’, in R. Chadwick (ed.) Encyclopedia of Applied Ethics Volume II. San Diego, CA: Academic Press, pp. 445–9. —— (2001) ‘Informed consent in genetic research’, in L. Doyal and J. Tobias (eds) Informed Consent in Medical Research, London: BMJ Books, pp. 203–10. —— (2005) ‘Nutrigenomics, individualism and sports’, in C. Tamburrini and T. Tännsjö (eds) Genetic Technology and Sport. London: Routledge, pp. 59–73. Chadwick, R. and Berg, K. (2001) ‘Solidarity and equity: new ethical frameworks for genetic databases’, Nature Reviews Genetics, 2: 318–21. Chadwick, R. and Hedgecoe, A. (2002) ‘Commercial exploitation of the human genome’, in J. Burley and J. Harris (eds) A Companion to Genetics. Oxford: Blackwell, pp. 334–45. Chadwick, R. and Wilson, S. (2004) ‘Genomic databases as global public goods?’ Res Publica, 10: 123–34. Chadwick, R., Henson, S., Koenen, G., Liakopoulos, M., Midden, C., Moseley, B., Palou, A., Rechkemmer, G., Schröder, D. and von Wright, A. (2003) Functional Foods. Heidelberg: Springer. Daar, A. and Singer, P. (2005) ‘Pharmacogenetics and geographical ancestry: implications for drug development and global health’, Nature Reviews Genetics, 6: 241–6. Department of Health (2003) Our Inheritance, Our Future: Realising the Potential of Genetics in the NHS. London: Department of Health. —— (2005) Choosing Health. London: Department of Health. El-Sohemy, A., Stewart, L., Khataan, L., Fontaine-Bisson, B., Kwong, P., Ozsungur, S. and Cornelis, M. (2007) ‘Nutrigenomics of taste – impact on food preferences and food production’, in E.S. Tai and P.J. Gillies (eds) Nutrigenomics – Opportunities in Asia. Basel: Karger, pp. 176–82. Fargher, F.A. et al. (2006) ‘Exploring patients’ and healthcare professionals’ views of pharmacogenetic testing’, poster presentation, symposium ‘From Genes to Patients: New Perspectives on Personalised Medicines’, Warwick University, 5 July 2006. Food Ethics Council (2005) Getting Personal: Shifting Responsibilities for Dietary Health. Brighton: Food Ethics Council. Food Standards Agency (2005) Consumer Attitudes Survey. London: Food Standards Agency. Gütter, F. and Guldberg, P. (2003) ‘Phenylketonuria’, in Encyclopedia of the Human Genome, Vol. 4. London: Nature Publishing Group, pp. 568–72. Henderson, M. (2007) ‘“Fat” gene found by scientists’, The Times, 13 April; at www.timesonline.co.uk/ tol/news/uk/health/article1647517.ece (accessed 14 June 2008). House of Lords (Select Committee on Science and Technology) (2001) Human Genetic Databases: Challenges and Opportunities. London: House of Lords. Human Genetics Commission (2002) The Supply of Genetic Tests Direct to the Public: A Consultation Document. London: Human Genetics Commission. Human Genome Organisation (HUGO) Ethics Committee (2002) Statement on Human Genomic Databases. London: HUGO. —— (2007) Statement on Pharmacogenomics, Solidarity and Equity. London: HUGO. Ioannidis, J.P.A. (2003) ‘Genetic associations in large versus small studies: an empirical assessment’ The Lancet, 361, 9357: 567–71. Kant, I. (1963 [1782]) Lectures on Ethics, translated by Louis Infield and edited by Lewis White Beck. New York: Harper Torchbooks. Knoppers, B.M. and Chadwick, R. (2005) ‘Human genetic research: emerging trends in ethics’, Nature Reviews Genetics, 6 :75–9. Korthals, M. (2004) Before Dinner: Philosophy and Ethics of Food. New York: Springer. Lopatin, P. (2008) ‘Nutrigenomics: a new approach to pet wellness’, at www.webvet.com/main/article? id = 2071 (accessed 24 October 2008).
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Lunshof, J., Chadwick, R., Vorhaus, D. and Church, G. (2008) ‘From genetic privacy to open consent’, Nature Reviews Genetics, 9: 406–11. Lupton, D. (1996) Food, the Body and the Self. London: Sage. Milunsky, A. (2001) Your Genetic Destiny: Know Your Genes, Secure Your Health, Save Your Life. London: Perseus Publishing. Müller, M. and Kersten, S. (2003) ‘Nutrigenomics: goals and strategies’, Nature Reviews Genetics, 4, 4: 315–22. Raats, M.M., de Groot, C.P.G.M. and Van Staveren, W. (eds) (2008) Food for the Ageing Population. London: CRC Press. Sciona (2008) mycellf, at www.mycellf.com/index.aspx (accessed 28 October 2008). Shickle, D. and Chadwick, R. (1994) ‘The ethics of screening: is screening-itis an incurable disease?’ Journal of Medical Ethics, 20, 1: 12–18. Stahl, W. and Sties, H. (1992) ‘Uptake of lycopene and its geometrical isomers is greater from heatprocessed than from unprocessed tomato juice in humans’, Journal of Nutrition, 122: 2161–6. Thorsteinsdóttir, H., Daar, A.S., Smith, R.D. and Singer, P.A. (2003) ‘Genomics – a global public good?’ The Lancet, 361, 9361: 891–2. Weightloss-Information (2004) ‘Comparison of flax oil vs fish oil and borage oil: are you lacking the enzyme to digest flax oil?’, at www.weightloss-information.org/flax_oil.htm (accessed 28 October 2008). Wilson, J.M.G. and Jungner, G. (1968) ‘The principles and practice of screening for disease’, Public Health Papers, 34. Geneva: World Health Organisation.
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Section Two Commercialisation
8 Introduction Genomes and markets Paul Atkinson
As authors throughout this volume have emphasised, genomic and post-genomic innovations have been surrounded by discourses of hope and hype. This has been nowhere more true than in the fields of biotechnology and the commercial exploitation of genomic science. Indeed, numerous state and other agencies have seen biotechnology as the motor for new forms of knowledge-based economy, the emergence of new industrial sectors, and the commercial development of new medical interventions. There is, of course, nothing inherently new in the commercialisation of nature, nor in the transformation of natural forms into commodities. Since the agrarian revolution, the purposeful, large-scale modification of natural species through large-scale selective breeding has been a taken-for-granted feature of advanced economies. Likewise, the industrial-scale exploitation of foods and animal products has been the stock-in-trade of agri-business. On the other hand, new biological science and technology has conjured up yet a new revolution, based on medical applications, pharmaceutical developments, and agricultural innovations. This has led a number of commentators to suggest that we are witnessing the emergence of distinctive and novel economies. These include the proposal from Waldby and Mitchell (2006) that we can identify ‘tissue economies’ as significant components in contemporary ‘late’ capitalism. Genomic and post-genomic (e.g. stem-cell) science is itself seen as a crucial aspect of many state economic strategies. Indeed, the promotion and regulation of bio-economies is not merely a matter of national self-interest, it is also a key component of foreign policy for many countries. Cooke explores some of the configurations of states, markets and networks in the organisation of bio-economies. Knowledge-based sectors display particular kinds of complexity, not least in terms of the appropriation of knowledge that might otherwise be regarded as a public good. Moreover, the biotechnology sectors and pharmaceuticals depend on particular kinds of relationships between private and public sectors in the development of the knowledge value chain. Universities, small research enterprises and large multinational firms are interdependent. In contrast to many other – more mature – sectors, large biotechnology companies out-source research and development to universities. This in turn reflects the huge state investment in university-based research. Academics are thus constrained to be more entrepreneurial, while entrepreneurs are 107
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dependent on academics’ research performance. This is observable in the United States and in Europe, as well as in Asian knowledge economies. Knowledge-based value chains are increasingly dependent on networks of research collaboration. These networks link local concentrations of expertise and investment, based on university centres and private-sector firms: the creation of private enterprises for the commercial exploitation of university, publicly funded research increases the significance of geographical and intellectual proximity. Local clusters of knowledge-production are linked through global patterns of collaboration and co-publication. Martin, Hopkins, Nightingale and Kraft trace some of these developments in relation to the pharmaceutical industry. They describe the emergence and expansion of genomics-based research, development and patenting. They sound a suitably cautious note. Notwithstanding the perceived significance of genomics, they suggest that while it has re-configured the relationship between the private and public sectors in the process of drug discovery, it is – at least – premature to conclude that it is leading to the wholesale re-organisation of the pharmaceutical industry, changes in the types of pharmaceutical products, or indeed to the transformation of healthcare. It is certainly premature to conclude that pharmacogenomics is delivering a revolution in therapeutics. The rush to commercialise genomic knowledge, derived in part from industrial-scale gene sequencing, and the enthusiasm with which private finance was invested in the sector, have not resulted in commercially successful product-development. We are certainly not witnessing the sustained development and profitability of this particular sector. The expansion of biotechnology and agri-biotechnology has been widely promoted as a symptom and a motor for the expansion of knowledge economies. The reconfiguration of agricultural and medical activities has been – as Levidow argues in his chapter – congruent with neo-liberal ideologies. Relations between producers, consumers and other ‘stakeholders’ are cast in terms of markets. Global relations in turn imply widespread circulations of expertise, materials, and investment. The marketisation of biologically derived innovations are in turn dependent on global markets in regimes of ethical and legal regulation, as well as being protected by specific patents. Again, there is nothing specifically novel in this, but the scale and visibility of post-genomic innovation arguably make it qualitatively different from other and earlier kinds of innovation. Of course, cross-national flows of expertise and commercial investment also create the possibility of equally international movements based on ethics and social values. Levidow’s account of the reception of genetically-modified food in Europe is especially interesting from this perspective. He discusses how the moral economy in Europe – that is the circulation of values and the calculus of risk – ran counter to the economic rationality implied in the European programme of economic competitiveness based on a knowledge economy. When economic value is based on the transformation of nature, then tensions arise between economic and moral rationalities, between moral and commercial markets. The intersection of moral economies and genomic knowledge is also illustrated in the insurance sector. As Rothstein and Joly illustrate, the use of genetic information in calculating actuarial risks for health insurance and life assurance is contentious. The use of predictive genetic information may be no different in principle from the use of other, more traditional, bases for such calculation. But the industrial and commercial development of rapid throughput, high-volume genetic testing creates new conditions for the assessment of predispositions and risks. These in turn raise new issues for social policy, as well as for commercial interest. As Rothstein and Joly argue, while the technologies are 108
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global – and so, indeed, are the financial markets – the moral and policy implications raised by insurance in the post-genomic age require more local political interventions. All four of the chapters in this section, therefore, display some of the complexities in the economic implications of new genomic and genetic technologies. Public and private funding create new interdependencies and new configurations of knowledge-based economies. Global finance and networks of innovation intersect with State intervention through public funding and regulatory regimes. Moral discourse and economic interests can come into sharp conflict. We certainly cannot project an unproblematic trajectory for commercial exploitation and economic growth based on genomic knowledge. We cannot divorce economic rationality from the moral and political contexts in which it is thoroughly implicated.
References Waldby, C. and Mitchell, R. (2006) Tissue Economies: Blood, Organs and Cell Lines in Late Capitalism. Durham, NC: Duke University Press.
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9 Making Europe unsafe for agbiotech Les Levidow
Introduction Since the 1980s biotechnology has been promoted as a symbol of European progress. As a clean technology, agbiotech was meant to enhance efficient agri-production and thus fulfil the beneficent promise of a European Biosociety, like its counterpart of the Information Society. By the early 1990s biotech symbolised the ‘knowledge-based society’ and eventually the Lisbon agenda. At the 2000 Lisbon meeting of the European Council, Ministers committed the EU to become ‘the most competitive and dynamic, knowledgebased economy in the world, capable of sustainable growth with more and better jobs’. By then, however, agbiotech was becoming stigmatised, opposed and blocked throughout Europe. ‘GM food’ was widely portrayed as a pollutant contaminating science, agriculture, the environment and democratic sovereignty. The phrase ‘GM-free’ was playing a role similar to ‘nuclear-free’ in the 1980s. Few farmers have chosen to cultivate the GM crops which gained EU approval for commercial use. Even for such products, safety claims have remained in dispute. How did agbiotech undergo such a reversal of its early status and economic ambition? Answers can be found by locating agbiotech within a wider political–economic project – and vice versa. In this article the concept of ‘safety’ will be elaborated in several ways: as contending accounts of risks to be clarified, and as a metaphor for a socio-political system favourable or not to agbiotech. Risk issues proliferated and expanded from the late 1980s onwards. Questions were asked about whether or how genetically modified organisms (GMOs) could be made predictably safe for the environment. In the margins of this risk debate, a philosopher turned that predictive question into a normative issue. He analysed how organisms were being standardised for predictable, efficient agri-industrial uses through genetic modification, and thus how nature was being made safe for agbiotech (Sagoff 1991). This re-ordering of nature as standard commodities meant a normative shift in what counts as natural, beneficial, rational, etc. Expanding on his insight, this article analyses an entire socio-political system. How was Europe being re-ordered in ways more favourable to agbiotech in the 1990s? What difficulties were encountered? How was Europe becoming less safe for agbiotech by the end of the decade? 110
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The article draws upon analytical concepts of socio-natural orders. Any technology is co-produced with specific forms of social and natural order; these are promoted through discourses of promises to address threats of disorder. Technoscientific developments can be understood as socio-technical hybrid constructs, ordering society in particular ways, as if these derived from separate ‘natural’ characteristics (Jasanoff 2004: 21). Stable success depends upon creating both those implicit links and explicit separations. Whenever a technology becomes contentious, power struggles arise over how to define the issues at stake – over what is ‘the technology’ and what problems need solutions.
1 Making Europe safe for agbiotech Agbiotech was originally promoted as a multiple technological saviour: GM techniques would improve crops for both economic efficiency and environmental protection, especially by reducing agrochemical usage. These benefits were attributed to inherent properties of GM crops as smart seeds. Inefficiency was attributed to deficient inputs and a wild, disorderly Nature threatening crops. The inherent hazards of intensive monoculture were represented as external threats of disorder, which could be re-ordered through a molecularlevel technofix: crops must be improved by editing their genetic information. The search for molecular knowledge has featured metaphors of computer codes, which derive from the 1930s’ science of molecular biology. This reconceptualised ‘life’ in physico-chemical terms: DNA became coded ‘information’ which could be freely transferred across the species barrier. A ‘molecular vision of life’ diagnosed societal problems as genetic deficiencies (Kay 1992). This informatic concept was favoured by the Rockefeller Foundation and government-funding bodies. Through molecular biology, genetic engineering facilitated the development of novel commodities. ‘As technology controlled by capital, it is a specific mode of the appropriation of living nature – literally capitalizing life’ (Yoxen 1981). Genetic engineering was celebrated as ‘a natural science’, by reference to natural recombination of genetic material (Monsanto 1984). The global biotechnological agenda was led by the US agri-industrial complex and its government supporters. Long beforehand, these institutions had turned agriculture into a rural factory of standardised commodity production, especially for animal feed and global export. In the 1990s agbiotech innovation complemented and extended that agri-industrial system, with the promise of alleviating its environmental damage through eco-efficient inputs. The development and adoption of GM crops were promoted through new policies – broader patent rights giving financial incentives to public-sector research, ‘product-based regulation’ normalising GM crops as safe, and trade liberalisation opening foreign markets to US agri-exports. These policies linked neoliberal models of the natural and social order. In such models, market competition provides a naturally benign regulator, driving innovation as a basis for societal progress. Neoliberal policies promote the societal capacity to compete for economic advantage in the marketplace, while also creating new opportunities to marketise resources, thus elaborating a ‘competition state’ (Cerny 1999). In the agbiotech case, natural resources were invested with engineering and industrial metaphors, e.g. smart seeds, attributing human powers to commodity agri-inputs. ‘Market liberalism and technocracy set the agenda, not democracy … the economism of globalisation discourse is combined with an authoritarian technological determinism’ (Barben 1998: 417). 111
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The US model of intensive agri-industrial production was appropriated as an inevitable European future. Since the 1980s a ‘Biosociety’ was being promoted within a general European policy of eco-efficient innovation. New policies sought to make Europe safe for agbiotech as normal products, while marginalising any opportunities for dissent or alternative development paths. Soon this became linked with a neoliberal agenda. Invoking objective imperatives of global competition, the European Commission promoted agbiotech as essential for economic competitiveness and thus for survival of the European agri-food sector, along lines similar to the US model of industrial agriculture. By the mid-1990s the EU and the US were cooperating to remove ‘barriers to transatlantic trade’ through regulatory harmonisation, especially for biotech products, as means to liberalise trade across the Atlantic (Murphy and Levidow 2006). EC policies also facilitated efforts to commoditise human and natural resources. In 1988 a draft EC directive extended patent rights to ‘biotechnological inventions’, thus broadening the scope of discoveries or techniques which could be privatised and then accrue royalty payments. With such language, discovery of a common resource was presented as an invention warranting proprietary rights. According to a representative of a major pharmaceutical firm, SmithKline Beecham, ‘Genes are the currency of the future’ (cited in Emmott 2001: 378). This new discourse naturalised the commoditisation of nature as a patentable human artifice. After a decade-long conflict, the Directive was enacted (EC 1998a). It was meant to resolve political conflicts regarding the patentability of GM crops (among other issues), and thus stabilise rules for the EU internal market. Yet some member states soon objected to the Directive, even bringing judicial challenges, and many more had not transposed it into national law a few years later. ‘Biotechnogical inventions’ remained controversial as ‘patents on life’ or ‘biopiracy’. In some countries, public-sector research institutes were allocated less state funds than before and were expected to substitute income from the private sector or from patents, e.g. through GM techniques. EU R&D funding priorities complemented that shift towards a marketisation policy for hitherto ‘public-sector’ research, now blurring the boundary between public and private sectors (Levidow et al. 2002). By 1990 EC funds for biotech research became dependent upon industry partners committing resources to a proposed project. Research was given a clear economic function, with ‘more careful attention to the long-term needs of industry’, according to managers of the DG-Research Biotechnology Division (Magnien and Nettancourt 1993: 51). Together these policies created greater financial incentives for agricultural research to use GM techniques. For safety issues the EC’s 1990 legislation had set an implicitly precautionary framework, requiring that each GMO release have a prior evaluation of potential risks to human health and the environment. By the early 1990s, however, the precautionary content was constrained by a new policy of ‘risk-based regulation’, which shifted the regulatory burden of evidence towards demonstrating risks. Regulatory conflicts emerged over how to ensure in advance that GM crops fulfil the promise of environmental improvement. Efforts to verify these promises were marginalised by neoliberal policies in the mid-1990s, when agbiotech regulation was put on the defensive for supposedly impeding innovation. For specific GM products, official risk assessments accepted the normal hazards of intensive monoculture, e.g. pest resistance to pesticides. These normative aspects complemented the EU policy framework of higher productivity for economic competitiveness. Europe was being deterritorialised as a purely economic zone for circulating 112
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commodities, as if products and risk assessment had no cultural values (Barry 2001: 70). In this way, GM products were becoming symbolically normalised as safe products. No special GM labelling was required. Any such requirement was opposed on several grounds: for lacking any scientific basis, unfairly impeding the internal market, and making the EU vulnerable to a US challenge under WTO rules. Without labelling, GM grain would be invisibly mixed with other grain in processed food. As unwitting consumers of GM food, the public were modelled as supporters of a beneficial technology serving the common good. By the mid-1990s EC policies were making Europe safe for agbiotech to achieve commercial success, by modelling European society along neoliberal lines. All social actors were cast in market roles – as business partners, competitors, clients, consumers, etc. Societal decisions on agbiotech were reduced to a case-by-case regulatory approval of GM products, on the basis of expert advice. Public accountability meant regulatory procedures for authorising ‘safe’ GM products, which could then freely circulate throughout the EU internal market. Those arrangements lay at the nexus of several political agendas which attracted dissent. A technicist harmonisation agenda treated regulatory standards as merely technical issues standing above socio-cultural values, as a basis for ‘completing the internal market’ of the EU. The US neoliberal framework was being adapted, but dissent arose from the start, thus signalling conflicts that would intensify later. Rules of the internal market depended upon acceptance (or at least submission) by EU member states, which increasingly objected to the early neoliberal framework and sometimes even defied its rules.
2 Agri-efficiency as a solution or hazard? Since the mid-1990s the biotechnology industry has appropriated the phrase ‘sustainable agriculture’, cast in its own image of intensive monoculture. Proponents emphasised benefits of reducing agrochemical usage, deploying resources more efficiently, increasing productivity, and so enhancing economic competitiveness. For example, GM crops will continue ‘the progress of high-yield agriculture’ (Monsanto 1997: 16). Likewise, according to Novartis, GM insecticidal maize ‘contributes to sustainable agriculture’, even the ‘sustainable intensification of agriculture’ (Imhof 1998; cited in Levidow 2005). From this perspective, society faces a common problem: the risk of failing to reap the benefits. EU policy likewise supported agbiotech as an ecoefficient innovation. According to the Economic and Social Committee, biotechnological solutions are ‘guaranteeing yields, helping to cut the use of plant health products in combating pests and diseases, and creating quality products’. Thanks to its precise techniques, moreover, genetic engineering ‘allows more accurately targeted risk prediction’, argued the committee (EcoSoc 1998). In this promotional account, biotechnological precision and efficiency could be extended to risk assessment, readily clarifying any uncertainties. By the mid-1990s such assumptions were becoming a greater source and focus of European public distrust towards regulatory authorities. In particular, the 1996 ‘mad cow’ controversy had resulted from animal feed containing animal remains and unknown infected material. This was still biologically active due to a deregulatory change in requirements for heat treatment, and the feed could freely circulate in the EU internal market. As a further basis for political scandal, expert advice had implicitly made policy assumptions, e.g. that real-world practices would follow risk-management guidelines and 113
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thus avoid any infectious spread (Jasanoff 1997; Millstone and van Zwanenberg 2001). The Commission likewise covered up the problem, for fear that public concern about the BSE problem would endanger the European beef market, according to a report by the European Parliament (1997). The scandal was turned into a European crisis of industrial agriculture by its critics. Drawing analogies to the ‘mad cow’ epidemic, opponents pejoratively associated agbiotech with factory farming, its health hazards, and globalisation. In both sectors, regulatory procedures came under attack for pre-empting or concealing political decisions in the guise of ‘science’. Two GM products became test cases for these issues; indeed, the products were turned into high-profile symbols of a dangerous, disorderly technology and irresponsible government policy. In 1996 Monsanto’s GM soybean received EU-wide commercial authorisation for food and feed import, without any requirement for GM labelling. When US soya shipments arrived in late 1996, these provided a high-profile target for agbiotech opponents. A French newspaper article was headlined ‘Alerte au soja fou’ – mad soya alert (Libération, Paris, 1 November 1996). This metaphor highlighted disorders of government and product behaviour in the BSE episode. At several ports, Greenpeace staged a symbolic blockage with rubber dinghies, temporarily delaying the shipments, thus gaining publicity for its antiGM message. NGOs accused companies and governments of ‘force-feeding us GM food’. In January 1997 the Commission approved Ciba-Geigy’s Bt 176 insecticidal maize for import and cultivation, despite opposition from most member states. According to EU expert committees, there was no evidence of risk from the product. Some national experts dissented. In particular they highlighted risks that its antibiotic-resistance gene could spread to pathogenic microbes, thus undermining the clinical efficacy of the antibiotic. Such experts and NGOs drew analogies to animal husbandry over-using antibiotics, thus spreading resistance. NGOs and some member states also demanded a ‘GM’ labelling requirement; this demand led to disagreements among Commissioners and procedural delays, before finally granting approval. In a Belgian newspaper, the Commission was denounced for ‘recidivism’, by reference to its previous role in covering up health hazards of beef (Rich 1997). The Bt 176 approval decision was criticised by a broad range of civil society organisations. These included consumer NGOs, which did not necessarily oppose agbiotech but demanded more rigorous risk assessments and GM labelling for consumer choice. In April 1997 the Commission was denounced by the European Parliament. Risk assessment of GM food was criticised for optimistic assumptions, for dependence upon scientific ignorance, and for a commitment to industrial agriculture. Further analogies were drawn to the BSE crisis: There was an implicit [government] assumption that the public would be broadly supportive of measures that improved productivity. Subsequent outcry demonstrated that the public did not accept that the risks of such an ‘unnatural’ practice were justified by the increased ‘efficiency’ of meat production (Greenpeace 1997) With the sarcastic slogan, ‘How to destroy the beef industry and learn nothing’, this report also echoed the attacks on the Commission over approval of Bt 176 maize. Originating in a loose network of activist groups, in the late 1990s an anti-GM movement emerged, led by environmentalist groups, especially Greenpeace Europe, 114
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Friends of the Earth Europe (FoEE) and their national affiliates. Another key opponent was the Coordination Paysanne Européenne and its national affiliates, representing relatively less-intensive or small-scale farmers; they opposed the entire agri-industrial model, while counterposing extensification measures as an alternative. GM crops were widely stigmatised as ‘contamination’ jeopardising benign alternatives. Although consumer NGOs did not oppose agbiotech, they took up agri-environmental issues as well as GM food safety. Protest linked GM food with potential environmental risks of cultivating GM crops. Through the agbiotech issue, diverse European movements ‘found a unifying topic like no other’, helped by ‘the fact that genetic engineering touches virtually all areas of life’, according to an anti-biotech campaigner. These campaigns crossed the usual boundaries between environmental, consumer and farmer issues. National NGOs intervened at the European level. All shared a common aim: ‘stopping the technology from infiltrating the food and agricultural sectors’ (Schweiger 2001: 371). When mass protest emerged in the late 1990s, then, risk discourses framed agriindustrial efficiency as a threat. Agbiotech critics diagnosed the agricultural problem as intensive monocultural practices, global standardisation and farmer dependence upon multinational companies. Thus agbiotech intersected with a wider debate over agricultural and societal futures.
3 National controversies: agbiotech vs sustainable agriculture In the late 1990s ‘sustainable agriculture’ was being appropriated in divergent ways by advocates and opponents of agbiotech. In Europe ‘sustainable agriculture’ has been increasingly defined by distinct cultural values, linking the quality of food products, rural space and livelihoods. Although chemical-intensive methods still prevail, the countryside has been increasingly regarded as an environmental issue, variously understood – e.g. as an aesthetic landscape, a wildlife habitat, local heritage, a stewardship role for farmers, and their economic independence. Such accounts of sustainable agriculture increasingly informed national regulatory approaches to GM products in the late 1990s, thus diverging from the eco-efficiency account presumed by agbiotech innovation. Some national examples below illustrate those policy developments. France and the UK have special significance: originally their governments led efforts to gain EU-wide approval for GM crops, but later their policies became more cautious. Agbiotech was increasingly cast as a problem for sustainable agriculture. Consequently, EU-wide regulatory conflicts intensified (as described in the next section). Denmark Denmark’s environmental legislation has affirmed the general aim of ‘sustainable development’ since the 1980s. It also had a policy to reduce agrochemical usage, especially so that groundwater could be used safely as drinking water. The Danish approach valued groundwater as a common resource, thus favouring more extensive cultivation methods which would use fewer pesticides. Citing that policy aim, NGOs criticised the long-term implications of GM herbicidetolerant crops for herbicide usage and residues, especially in groundwater. In the mid-1990s they successfully pressed the Danish Parliament to raise such questions about herbicide-tolerant 115
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crops within Danish regulatory procedures. Under this Parliamentary pressure, the Environment Ministry adopted broad risk-assessment criteria along those lines, thus providing a basis for a broad national consensus on regulatory procedures (Toft 1996). Within that policy framework of sustainable agriculture, Denmark’s broad criteria went beyond the risk assessment in most other EU member states, which evaluated simply whether a GM crop per se would cause harm. Consequently, Denmark objected to the risk assessments of every herbicide-tolerant crop proposed for EU-wide commercialisation, on grounds that they did not evaluate the long-term implications for herbicide usage (Toft 2000). Eventually these objections gained support from more member states, who together stimulated an EU policy shift towards broader assessments. This approach became difficult for the Danish authorities to do a definitive assessment of herbicide-tolerant sugarbeet (Toft 2005). Austria In Austria agbiotech was turned into a symbolic threat to organic agriculture. Even before GM crops became a high-profile issue there in the mid-1990s, the Austrian government was promoting organic farming – as ecologically sound, as quality products, and as an economically feasible market-niche alternative for an endangered national agriculture. This ‘competitiveness’ strategy conflicted with the pro-biotechnology imperative to increase agricultural productivity. Some government officials regarded agricultural biotechnology as a threat to the environment and an obstacle to sustainability. Austrian regulators unfavourably compared potential environmental effects of GM crops with methods which use no agrochemicals, as grounds to oppose commercial approval. When NGOs campaigned against agbiotech, they effectively reinforced the government’s stance (Torgerson and Seifert 2000). As a GM-free Austria nearly became a national consensus, the government sought stronger means to justify this policy, especially given its conflict with EU legislation. Austria banned several GM crops after they obtained EU approval, while making detailed criticisms of the official risk assessments and safety claims. In Austria’s own riskbenefit analysis, risks were always uncertain, while benefit was understood as promoting the political aim of a society oriented towards sustainability (ibid.). To justify restrictions on GM products, civil servants linked the Precautionary Principle with sustainable development – a link already in the 1992 Rio Declaration. In addition, Austria’s law on biotechnology had a ‘social sustainability’ clause, which prohibits ‘inappropriate disadvantages’ for societal groups through biotechnology. Civil servants anticipated using this clause to justify strict rules for segregating GM crops, thus deterring their cultivation (Torgerson and Bogner 2005). Italy Italian agbiotech opponents sought to protect the agro-food chain as an environment for craft methods and local specialty products, known as prodotti tipici. In the late 1990s the Italian Parliament had already allocated subsidies to promote such products and foresaw these being displaced by GM crops. According to a Parliamentary report, the government must ‘prevent Italian agriculture from becoming dependent on multinational companies due to the introduction of genetically manipulated seeds’. Moreover, argued the report, when local administrations apply EU legislation on sustainable agriculture, 116
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they should link these criteria with a requirement to use only non-GM materials. Parliament endorsed such proposals (Terragni and Recchia 1999). Such anti-agbiotech demands gained widespread support, especially from the Coltivatori Diretti, a million-strong union of mainly small-scale farmers. Environmental NGOs, farmers and food retailers built a national network seeking to exclude GM products from Italian agriculture. This network successfully maintained Italy’s political and commercial opposition through government changes. When Romano Prodi’s L’Ulivo (Olive Tree) coalition was replaced by Berlusconi’s Casa delle Libertà coalition in 1996, its policy generally shifted along neoliberal lines; and the new government included strong advocates of agbiotech. Yet Italian officials continued to deter or block GM field trials and to oppose product approval. That policy was often translated into risk arguments in EU-level regulatory procedures. When a company requested authorisation to import GM rapeseed in 2003, for example, Italy argued that any escaped seed could contaminate related plants and thus undermine centres of diversity for Brassica crops. This risk argument effectively served to exclude GM crops and grain – framed as a threat to Italian food products, their wholesome image and small-scale producers. France In 1996 the NGO Ecoropa initiated a petition emphasising unknown risks of GM crops, as a basis to advocate a moratorium. It was signed by several hundred scientists, many seeking more stringent regulation rather than a ban. Soon critics were putting the government onto the defensive for failing to protect France from risks of GM crops. In 1997 greater controversy emerged over Agrevo’s GM herbicide-tolerant oilseed rape, which had a great capacity to spread its genes. Expert advisors anticipated that weeds would eventually acquire resistance to broad-spectrum herbicides, thus jeopardising and complicating future methods for weed control in agriculture. In early 1998 the Institut National de la Recherche Agronomique (INRA) abandoned its joint innovation research with seed companies on GM herbicide-tolerant oilseed rape, partly in order to protect the neutral reputation of its research on environmental risks. In March 1998 Agrevo decided to destroy its own field trials of this crop in France, in order to avoid further unfavourable publicity. Invoking the Precautionary Principle, moreover, in November 1998 the government announced that this product would not be approved for commercial use – even though France had previously led the EU-wide procedure for such approval (Roy and Joly 2000). Another GM crop became a major controversy in France. Novartis’ insecticidal Bt 176 had generated controversy about several risks including its antibiotic-resistance marker gene. In 1996 the European Commission approved the product, despite opposition from all member states except France, which was acting as the rapporteur for the proposal. The French government was accused of favouring commercial interests over scientific criteria. According to Ecoropa, ‘Obviously, the French government surrendered to interests of multinational agrochemical companies and its decision is entirely commercially motivated’ (quoted in FoEE 1999). During 1997 the French government initially refused to confirm the approval and then later approved Bt 176 maize. Ecoropa and Greenpeace filed a challenge at the Conseil d’Etat, the administrative high court, on several grounds – that the risks had not been properly assessed, that the correct administrative procedures had not been followed, 117
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and that the precautionary principle had not been properly applied. Their arguments gained some support in the court’s interim ruling in September 1998, though not in the final one (Roy and Joly 2000). In the late 1990s the French agbiotech debate expanded from ‘risk’ to sustainability issues, featuring divisions among farmers. The Fédération Nationale des Syndicats d’Exploitants Agricoles (FNSEA) represented industrial-type farmers, who sought access to GM crops as a means to enhance their economic competitiveness. In the name of ‘sustainable production’, they also anticipated environmental benefits such as reductions in the use of pesticides and water. As a means to control the European cornborer pest, they sought access to insecticidal Bt maize, e.g. Bt 176 or Monsanto’s MON 810 which gained EU-wide approval in 1998. By contrast, the left-wing farmers’ trade union Confédération Paysanne (henceforth Conf) denounced such products as a threat to their skills and livelihoods. According to their spokespersons, such as Jose Bové, GM crops pose risks to their economic independence, to high-quality French products, to consumer choice and even to democracy. Those values were expressed in the Conf slogan, ‘For another agriculture: Produce, Employ, Conserve.’ This slogan resonated with produits de terroir, a marketing label which denotes its origin from specific localities and peasant producers. They promoted a paysan savoir-faire, as a basis for a different societal future, independent of commoditised agriinputs from multinational companies. In those ways, they also ‘set in motion a discourse and an activist strategy that would later counter the risk hegemony of the French GMO debate’ (Heller 2002: 16). Thus the French public controversy was extended to agri-innovation choices, far beyond environmental risk issues. Although French farmers were expected to adopt Bt maize on a larger scale, few did so, given uncertainties about the market prospects (see section on market forces). United Kingdom In the run-up to protests against the G8 Summit in Birmingham in May 1998, an activists’ meeting set up ‘GenetiX Snowball: a campaign of civil responsibility’. Snowballers collectively, openly ‘decontaminated’ GM maize fields, thus encouraging others to follow their example. To claim legitimacy, they quoted the UK Deputy Minister of Agriculture: ‘The government is not in the driving seat.’ He meant that commercialisation was driven by companies and by EU decisions to approve their GM products, thus allowing little choice for member states. According to the activists, ‘Our democratic system has failed us; government has waived its responsibility … Meanwhile transnational corporations hold the reins and pull the strings of power’ (GenetiX Snowball leaflet 1998). Thus the technology and its authorisation were framed as an undemocratic, sinister control. The initial opposition movement was joined by large NGOs, especially Greenpeace and Friends of the Earth. Through various pollution metaphors, opponents stigmatised all institutions which might promote, authorise or sell GM products. ‘GM contamination’ had diverse meanings, for example: unnatural genetic combinations posing unknown ecological risks, money interests perverting science, multinational companies controlling seeds, etc.; globalisation corrupting national democratic procedures; intensive methods further industrialising agriculture and perpetuating technological dependence; and pollen flow contaminating non-GM crops, thus denying consumer choice (Levidow 2000). 118
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A loose network of activists, the Genetic Engineering Alliance, proposed a ‘Five Year Freeze’ on the commercial use, import or patenting of GM products. Its February 1999 manifesto criticised shortcomings of the regulatory system and demanded public involvement in such decisions. Soon the coalition had attracted more than 40 members, including consumer, environmental, development and quasi-governmental organisations. Regulatory conflict focused on GM herbicide-tolerant crops, which were designed to replace specific herbicides with broad-spectrum herbicides which kill all vegetation. According to proponents, these crops would help farmers to minimise herbicide sprays and so protect wildlife habitats in or near agricultural fields. According to critics, broadspectrum herbicides could increase such harm. In 1997 the government’s own nature conservation advisors advocated a delay in commercial use of herbicide-tolerant crops, pending additional research. The government had no clear responsibility for these issues until 1998, when the Environment Ministry announced a three-year moratorium in order to facilitate the ‘managed development’ of GM herbicide-tolerant crops. An ambitious plan for farmscale evaluations would compare the effects on farmland biodiversity of spraying GM and conventional crops, as a means to ensure environmental protection. Thus a broader account of environmental harm delayed any regulatory decision for several years. In parallel, from a UK initiative, the EU Environment Council (and eventually the Commission) incorporated that broader account into EU law.
4 EU-wide regulatory conflicts In the mid-1990s national regulators had generally accepted safety claims by companies, while acknowledging that GM crops could cause some undesirable effects. If weeds acquired tolerance to herbicides, or if insects acquired resistance to GM toxins, thus undermining the pest-control agent, then such effects were regarded as acceptable or irrelevant to EU legislation for regulating GMOs. Herbicide-tolerant crops were designed for farmers to substitute broad-spectrum herbicides, which kill all other plants, yet there was no institutional responsibility for the wider environmental effects. In such ways, risk assessment accepted the normal hazards of intensive monoculture for an innovation which promised to reduce agrichemical usage; regulatory criteria were framed by an ecoefficiency account of sustainable agriculture. This agri-industrial ordering of natural resources complemented a particular socio-political order: economiccompetitive pressures to maximise agricultural productivity, with minimal regulatory standards facilitating safety claims. This policy framework was reinforced by the European Commission, especially in driving the EU regulatory procedure towards approval of specific GM products, e.g. Bt insecticidal maize and herbicide-tolerant oilseed rape in 1996–7. By the late 1990s, facing greater public opposition to agbiotech, some national authorities shifted their regulatory policy. They evaluated GM crops on a relatively broader basis to protect various crop-protection methods (naturally occurring Bt insecticides and relatively benign herbicides) and public goods (e.g. safe drinking water, organic agriculture, local specialty products, etc.) These resources were seen as under threat from industrial agriculture in general and GM crops in particular. Implicitly or explicitly, national regulatory frameworks linked biotechnological risk with unsustainable agriculture (as described in the previous section). 119
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The Deliberate Release Directive was meant to link environmental protection with ‘completion of the internal market’ through harmonised standards (EEC 1990). Conflicts arose over the standards that would shape a market for agbiotech products. By the late 1990s, member states were disagreeing more sharply about how to define the ‘adverse effects’ which warrant evaluation and prevention. Diverse agri-environmental issues came from national norms – e.g. organic agriculture in Austria, drinking-water policy in Denmark, farmland biodiversity in the UK, weed-control issues in France, etc. – in conflict with the intensive agri-industrial model which underlay biotech innovation and official risk assessments. Regulatory conflicts intensified over the basis for commercial approval of new GM products. Proposals for broader risk assessments gained support from more member states in the late 1990s (Levidow et al. 1996, 2007; Levidow and Carr 2000). Greater conflicts delayed the EU decision procedure. In June 1999 several environment ministers signed statements opposing the approval of any more GM products until regulatory criteria were strengthened, including a requirement for traceability and labelling of all GM material, as well as precaution as the basis of risk assessment. Such changes were necessary ‘to restore public and market confidence’, according to their statements (reproduced in FoEE 1999: 3). Widely known as the de facto moratorium, this regulatory blockage delayed any further approvals for several years, pending several legislative changes along more precautionary lines in 2001. Meanwhile controversy continued over the scientific basis for safety claims of GM products already approved by the EU. The controversy gained impetus from two lab experiments whose surprise results cast doubt on previous evidence of safety. In UK experiments led by Arpad Pusztai, rats were fed GM potatoes containing a transgene for a lectin that was understood to be harmless to mammals. Yet the rats apparently suffered damage to their immune systems and organ development. The transgene itself was not a plausible cause of damage, so Pusztai raised the possibility that the genetic modification process had led to an unknown change in the potato; this hypothesis raised doubts about the safety of GM foods already on the market. Soon Pusztai was removed from his post. This affair was turned into a symbol of precautionary science being suppressed for commercial or political reasons, especially through attempts to silence dissent. Official expertise for GM food safety was criticised for optimistic assumptions and inadequate scientific methods to detect risks. Controversy ensued over the methodological basis to detect any potential harm in advance. In Swiss experiments led by Angelica Hilbeck, Bt toxins apparently harmed lacewing larvae, a predator of the cornborer pest (Hilbeck et al. 1998a, 1998b). The experiments were criticised regarding the methodological basis for detecting such harm in the lab and predicting harm in the field. As a wide-ranging rejoinder, the project leader surveyed all previous research on non-target harm from Bt toxins and criticised the methods as faulty, incapable of detecting any risks (EcoStrat 2000). Also at issue here was the relative acceptability of any harm. Bt maize would anyway cause less harm to non-target insects than ‘that from the use of conventional insecticides’, according to EU expert advice (e.g. SCP 1998). Their risk assessment implied that any lesser harm from Bt maize would be acceptable, on the assumption that it would always replace conventional maize sprayed with chemical insecticides. This assumption became contentious, especially because most maize is not anyway sprayed with chemical insecticide. Regulatory procedures came under pressure to evaluate any non-target harm, regardless of its severity or likelihood. 120
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Those two controversial cases highlighted precautionary issues in the experimental design of risk research. According to official accounts of the Precautionary Principle, this arises only at the risk-management stage, in special cases of uncertainty about risks, as if the latter were technical matters for experts (CEC 2000). Yet disputes arose over the methodological validity of research cited to justify safety claims for GM products. More stringent norms for environmental harm, e.g. to non-target insects or farmland biodiversity, increased pressures to investigate the prospects and causal pathways of such effects. These were debated as precautionary issues for risk research and assessment, not simply for a later stage of risk management (Levidow 2001). These uncertainties were cited to justify national bans on some products which had already gained EU-wide market approval. For example, Bt maize products were banned by Austria, Italy, Greece and later by Germany. The Commission lacked political authority for judicial action against the bans.
5 Market forces out GM products Early EU agbiotech policy symbolically normalised GM products within the agri-food chain. In the mid-1990s GM soya and maize were approved for the EU internal market with no requirement for a special label. GM ingredients were invisibly mixed in agrifood chains and processed food. Without GM labelling, the public would be unwittingly consuming GM food and thus supporting the technological development. When the first US shipments of GM grain reached Europe in 1996–7, activists held protests linking GM products with pollution and anti-democratic coercion. Local affiliates of national and European NGOs demanded GM labelling and non-GM alternatives. In revolting against GM food, many people were ‘voting’ as consumers, in lieu of a democratic procedure for a societal decision about a contentious technology. In the ongoing debate over GM labelling, consumer choice was framed in contending ways. From a pro-agbiotech standpoint, consumers were modelled as rationally pursuing their individual interests in safe food. According to EuropaBio, rules should instead be based upon intrinsic product characteristics which are scientifically verifiable and relevant to consumer interests. The market would distribute societal benefits through farmers’ decisions to buy GM seeds. From this standpoint, process-based labels, encompassing all products of GM techniques, would provide no useful information would unfairly stigmatise a safe technology. EU policy had a similar stance but was put on the defensive and was eventually destabilised. Demands for process-based GM labelling united a wide range of civil society groups which had diverse or ambiguous stances towards agbiotech per se. Consumer NGOs demanded comprehensive labelling of GM products to ensure the consumer right to know and choose food according to its origin. From an anti-biotech standpoint, environmental NGOs demanded GM labelling as a democratic right and defence against both risks and globalisation; such rules could also be used to deter the commercial use of GM grain. Through these cultural discourses and consumer boycott actions, food companies were being pressed to use their economic power vis-à-vis grain traders. Food companies eventually redefined their interests along the lines of consumer rights. European retail chains had been building up their own-brand lines, designed to symbolise product quality, as a tool of competitive advantage; this strategy made retailers more vulnerable and responsive to consumer concerns. Without an agreed basis to distinguish 121
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between GM and non-GM products, however, processed food had an ambiguous identity. European retailers found themselves competing to sell processed food as ‘non-GM’, defined according to diverse, unstable criteria. Facing market instability, the European food industry sought common rules for distinguishing GM from non-GM products. Such rules were needed to clarify product identity, as a means to re-order markets for processed food. Labelling rules redefined what is a ‘GM’ product according to detectability criteria which became successively broader, supported especially by some member states and the European Parliament. A 1997 Regulation had set a 1 per cent threshold but without agreed criteria for detectability. In lieu of clear statutory rules, in 1998 European retail associations devised their own GM labelling rules, though with some differences in criteria across EU member states. To standardise the rules, in 1998 the EU set labelling requirements for products with any detectable GM content above the 1 per cent threshold (EC 1998b). By 1999 European retail chains had excluded GM grain altogether from their ownbrand products, rather than apply a GM label, thus avoiding any market disadvantage. Commercial pressures against GM crops were extended across Europe and the agro-food chain. Given the strong consumer signals in some countries, food companies changed their ingredients or supply-chain sources across Europe. Farmers came under similar pressures from food companies and faced uncertainty about a market for GM grain. Market forces were deterring farmers from a choice of GM crops, thus nearly forcing out agbiotech from the EU (Levidow and Bijman 2002). At least a decade later, this commercial boycott continued. Consequently, by the late 1990s GM grain was used only for animal feed. The only large market for GM seeds came from Spain, where GM and conventional maize were mixed together, without any price disadvantage for GM grain. Given the blockage of US maize exports, Spain had a shortage of animal feed. For all those reasons, approx. 10 per cent of maize fields were cultivated with Bt varieties; this remained the limit of commercial cultivation in Europe.
6 Conclusion Agbiotech has been largely blocked in Europe, despite strong government efforts to promote its commercialisation. This blockage has been often explained by public irrationality and ignorance, as well as regulatory burdens or delays, as if a beneficial technology had been turned into an innocent victim. Opponents have been accused of targeting agbiotech as a proxy for extraneous issues such as globalisation and sustainable development, thus politicising the technology. Yet politics were always involved in agbiotech, which was co-produced with specific forms of the social and natural order. GM crops were promoted as a means of enhancing productive efficiency, sustainably intensifying agriculture, and thus accommodating the inexorable global competition for bulk agri-commodities. That social order was naturalised by a techno-fix whose genetic properties would protect society from the threat of competitive disadvantage from market forces. By the early 1990s that project was more clearly linked with neoliberal agendas. Competitive imperatives justified policies such as marketisation of public-sector research, broader patent rights for ‘biotechnological inventions’ and European regulatory 122
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harmonisation for transatlantic trade liberalisation. The EU and the US were cooperating to identify and overcome any regulatory differences that could pose trade barriers, especially for biotech products. ‘Risk-based regulation’ mandated regulatory approval on the basis of product safety, with no further control measures. As a basis for European integration, a technicist harmonisation agenda treated regulatory criteria as simply technical matters for experts. Proposals for labelling were rejected as lacking any scientific basis, unfairly stigmatising a technology, impeding the EU internal market and leaving the EU vulnerable to the threat of a US challenge under WTO rules. Together these policies were designed to make Europe safe for agbiotech as a series of safe, eco-efficient, beneficent products. Conversely, the technology became a political instrument for constructing a ‘competition state’. Success would depend upon naturalising that socio-natural order through new discourses and neoliberal policies. These policies created a vulnerable target for mass opposition. By the late 1990s they turned the technology into an ominous symbol of ‘globalisation’ – as a multiple threat to sustainable agriculture, human health, the environment, consumer rights and democracy. Fred Buttel (2000: 1) wondered ‘whether GMOs might be the Achilles Heel of the globalization regime, or conversely whether the globalization regime is the Achilles Heel of GMOs’. Indeed, these issues were turned into a mutual vulnerability. Agbiotech had been promoting a socio-natural order which was now attacked as a disorderly threat. Drawing ominous analogies to the BSE crisis, critics linked agbiotech with intensive agri-industrial methods, productive efficiency, its inherent hazards and its political unaccountability through globalisation. Moreover, they stigmatised GM products as pollutants. In France and the UK in particular, activists physically attacked GM field trials and grain stores, while portraying themselves as public-interest defenders of democracy and the environment. Agbiotech was opposed as a threat to skilled paysans developing quality agriculture. Their accounts of sustainable agriculture favoured different future scenarios for what should be sustained – what kind of economy, environment and society. Opposition became widespread in civil society. Similar issues circulated across conventional boundaries and remits of NGOs – environmentalist, consumer, farmer, etc. – as well as across national boundaries. Beyond simply ‘activists’, a wider societal participation took various forms such as public meetings, protest actions, consumer boycotts, attacks on GM crops, etc. By linking critical perspectives across diverse issues and constituencies, a broader citizenry sought to hold governments accountable for their policies – as choices which could be different. A decisive arena was the food retail sector. Consumer boycotts and demands turned GM ingredients into an instability for the processed food market. To stabilise the market, European retail chains devised their own GM labelling rules, which were eventually formalised and standardised in EU law. Under pressure from these rules and public protest, retailers eventually organised a commercial boycott of GM grain, thus deterring cultivation of GM crops. From its original promotion as an essential tool for economic competitiveness, agbiotech was turned into a competitive disadvantage. Safety approvals of GM products were being promoted by citing EU-level expert advice in the name of ‘risk-based regulation’. From the mid-1990s onwards, however, ember states increasingly disagreed about the risk-assessment criteria, especially what counts as harm and as meaningful evidence for clarifying potential harm in advance. The normal hazards of intensive monoculture were not necessarily accepted as a baseline for GM crops. These disagreements undermined the technicist harmonisation agenda which had driven EU regulatory standards. Member states raised more uncertainties as grounds 123
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for more rigorous evidence of safety, regarding a broader range of potential harms; more stringent agri-environmental standards corresponded to diverse accounts of sustainable agriculture. Risk assessment was opened up as precautionary issue, warranting questions more difficult to answer through the available science. In all those ways, protest was making Europe unsafe for agbiotech by the late 1990s. GM products were blocked along with the neoliberal policies promoting them. The blockage opened up debate and opportunities for alternative futures. ‘Another world is possible’, a prominent slogan of the global justice movement, was adapted as ‘Another agriculture is possible.’ Making Europe safe for such alternatives remains a more difficult task.
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Rich, A. (1997) Le Soir, Brussels, 27 January: ‘Après la vache folle, récidive sur le maïs transgénique’, p. 1; ‘Pourquoi ce maïs transgénique et quelles garanties sanitaires’, p. 8; ‘“Une décision réfléchie” ou “Une décision dans l’urgence” ?’ p. 8. Roy, A. and Joly, P.-B. (2000) ‘France: broadening precautionary expertise?’ Journal of Risk Research, 3: 247–54. Sagoff, M. (1991) ‘On making nature safe for biotechnology’, in L. Ginzburg (ed.) Assessing Ecological Risks of Biotechnology. Stoneham, MA: Butterworth-Heineman, pp. 341–65. Schweiger, T. (2001) ‘Europe: hostile lands for GMOs’, in B. Tokar (ed.) Redesigning Life? The Worldwide Challenge of Genetic Engineering. London: Zed, pp. 361–72. SCP (1998) ‘Opinion of the Scientific Committee on Plants regarding Pioneer’s MON9 Bt, glyphosatetolerant maize’, 19 May. Terragni, F. and Recchia, E. (1999) ‘Italy: precaution for environmental diversity?’ Report for “Safety Regulation of Transgenic Crops: Completing the Internal Market”’, DGXII RTD project coordinated by the Open University, at http://technology.open.ac.uk//cts/srtc/index.html Toft, J. (1996) ‘Denmark: seeking a broad-based consensus on gene technology’, Science and Public Policy, 23, 3: 171–4. —— (2000) ‘Denmark – potential polarization or consensus?’, Journal of Risk Research, 3, 3: 227–35. —— (2005) ‘Denmark: co-existence bypassing risk issues’, Science and Public Policy, 32, 4: 285–92. Torgerson, H. and Seifert, F. (2000) ‘Austria: precautionary blockage of agricultural biotechnology’, Journal of Risk Research, 3, 3: 209–17. Torgersen, H. and Bogner, A. (2005) ‘Austria’s agri-biotechnology regulation: political consensus despite divergent concepts of precaution’, Science and Public Policy, 32, 4: 277–84. Yoxen, E. (1981) ‘Life as a productive force: capitalizing the science and technology of molecular biology’ in L. Levidow and R.M. Young (eds) Science, Technology and the Labour Process, Vol. 1. London: CSE Books and Atlantic Highlands, NJ: Humanities Press, pp. 66–122; reissued 1983, London: Free Association Books.
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10 Genetic information and insurance underwriting Contemporary issues and approaches in the global economy Mark A. Rothstein and Yann Joly
1 Introduction Insurance is a contract whereby one party undertakes to indemnify another against loss by a specified contingency or peril. It is a method of spreading risks for events that cannot be predicted with certainty. Several insurance products are used to insure against the financial consequences of illness, disability and death. Insurance underwriting involves risk assessment and risk classification, resulting in policy holders of similar risk being charged similar prices (Dicke 2004). In medical underwriting, the individuals’ future health risk is predicted based on past and current health, as well as other factors, such as age, occupation, body mass index and smoking status (Gleeson 2004). Genetics is the scientific study of heredity. As a result of the new insights and technologies associated with the Human Genome Project, the capacity of genetic testing to predict the likelihood of illness and even to estimate life expectancy has expanded greatly. Today, over 1,500 genetic tests are available in the clinical and research settings (Genetest.org 2008), which provide increasingly accurate predictions about the likelihood of any individual manifesting future, genetic-influenced health events. Traditionally, genetic tests focused on the risk of monogenic disorders, but the focus of many newer genetic tests is on more common, complex conditions caused by both genetic and environmental factors (Andrews and Zuiker 2003; Burke 2002). At first glance, it might appear that modern, predictive genetics and the traditional risk-spreading function of insurance are on a collision course, and therefore insurance against future morbidity or mortality is unsustainable. Arguably, if an individual’s future health can be predicted with a degree of certainty, then the contingency at the heart of insurance would be eliminated or substantially reduced. Such a hypothesis is overly simplistic for two important reasons. First, scientifically, it fails to account for the significant effects of variable penetrance and expressivity, gene–environment interactions, as well as epigenetic and other biological processes that modern science is only beginning to understand. Second, in its various product lines, insurance plays a vital social role in funding health care and long-term care, providing income for individuals who have 127
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become disabled, providing income replacement on the death of a family’s breadwinner, and in other important ways. The commercial insurance market thus complements social welfare systems. This chapter describes the role of insurance in general and insurance underwriting in particular in the post-Human Genome Project world. After considering the widely differing contexts in which insurance operates, the chapter concludes that, from the standpoint of social policy, the role of expanded genetic information on each type of insurance must be separately assessed. The evaluation process involves difficult and contentious issues of political philosophy, public policy, ethics, economics, industry practices and law. After framing the issues with regard to each of the major insurance product lines, the chapter analyses the various responses of governments around the world and of the insurance industry. It concludes with general comments on the efficiency of these various mechanisms to protect the interests of all concerned stakeholders in the genomic era.
2 Ethical and policy framework In the sections that follow, we explore the ethical, legal and policy implications of using genetic information in health insurance, life insurance and other contexts. Overarching the specific considerations for each type of insurance are the following public policy objectives that should be advanced by laws regulating genetics and insurance: (1) do not discourage at-risk individuals from undergoing genetic testing; (2) do not coerce individuals into undergoing genetic testing; (3) do not promote harmful social consequences, including harm to family members from indirectly learning their risk status, and prevent genetic reductionism, determinism and fatalism; (4) make insurance coverage available at affordable rates to as many people as possible, thereby enabling financial stability and security, and limiting public obligations; and (5) do not impose unjustified restrictions that could have detrimental repercussions on the viability of the private insurance sector (Rothstein 2004). These principles need to be considered in light of three important trends. First, new genomic analytical tools, including chip-based technologies, will permit performing thousands of genetic tests simultaneously. If the cost of genetic testing is low enough, it will be economically feasible for routine testing in clinical settings, for off-record testing by consumers through home test kits and internet-advertised laboratories, and for insurance companies to test applicants. Second, the population is ageing in North America and Western Europe. Increased demand for health care and long-term care will further strain the relationship between public and private sources of health care finance. Third, interoperable networks of comprehensive, longitudinal, electronic health records are being developed around the world. Because disclosing one’s health records will mean that more sensitive information will be disclosed to third parties, new privacy laws are likely to be enacted to limit the amount of health information disclosed pursuant to an authorisation or release, and to increase individuals’ control over their health records. Health insurance Countries around the world differ greatly in their health finance systems, including the degree to which they finance health care by optional, private sector health insurance (also known as medical expense insurance). Of developed countries, the United States is 128
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the most pronounced example of a health care system that assigns a prominent role to private health finance, although the importance of private health insurance continues to grow in several publicly financed and ‘mixed’ health systems (Radetzki et al. 2003: 2). Thus, analysing the possible use of genetic information in health insurance is relevant to many countries besides the United States. Health insurance is generally sold as either a group or an individual policy. In the United States, most individuals with private health insurance obtain their coverage through an employer-sponsored group plan. Underwriting for group health insurance is overwhelmingly group based. Thus, if pricing is experience rated (based on past claims experience, as opposed to ‘community rating’, in which all policy holders pay the same rate regardless of health status), the experience of the group is considered. In 1996, the United States Congress enacted the Health Insurance Portability and Accountability Act (42 USC §§ 300gg–300gg–2). Among other things, this law makes it unlawful for employer-sponsored group health plans (involving both commercial health insurance and employer self-insured plans) to charge individuals different rates or vary coverage based on health status, including genetic predisposition. With regard to individual health insurance policies, a substantial majority of the states in the United States have enacted laws prohibiting health insurance companies from requiring a genetic test as a condition of applying for insurance or basing coverage or pricing decisions on the results of a genetic test (National Conference of State Legislatures 2008). There is a substantial and legitimate concern that fear of genetic discrimination, especially in health insurance and employment, causes individuals to decline genetic testing in the clinical and research settings (Collins and Watson 2003). Although survey research (Rothstein and Hornung 2003) and reports from genetic counsellors (Uhlmann and Terry 2004) confirm these fears to some extent, there is no evidence that the enactment of state genetic nondiscrimination laws has either changed public perceptions or affected health insurance purchasing behaviour (Hall et al. 2005). On 21 May 2008, President Bush signed into law the Genetic Information Nondiscrimination Act (GINA), which had been pending in Congress since the mid-1990s (PL 110–233, 122 Stat. 881). GINA prohibits genetic discrimination in health insurance and employment. The problem with this and other ‘genetic nondiscrimination’ legislation involving health insurance is that they only protect individuals who are asymptomatic. If the individual subsequently develops the condition to which he or she was genetically predisposed, then the law does not apply (Rothstein 2008). In most states, pursuant to the provisions of their general health insurance laws, at the time for renewal of the policy an insurer is free to cancel the policy or increase the premiums significantly to take account of the individual’s new health status. Other problems with genetic-specific laws include defining ‘genetic’ and ‘discrimination’ (Rothstein and Anderlik 2001), and isolating genetic information in health records (Greely 2005). The flawed attempt to protect against genetic discrimination in the individual health insurance market demonstrates an important principle applicable to all forms of insurance. It is virtually impossible to address concerns about genetics by enacting geneticspecific legislation (Rothstein 2005). The problem with adverse treatment (e.g. nonrenewals and rate increases) is that privately funded health coverage is a commercial product priced to reflect individual risks. Under a system dependent on privately funded, risk-based health finance, access to health care is treated as a commercial transaction. It is not considered a social good to which all are entitled and to which all have a legal right regardless of their health status. In the United States, at least, the issue of genetic 129
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discrimination in health insurance cannot be resolved until there is comprehensive reform of the nation’s health finance system to ensure access to health care for individuals with current health problems or who are predisposed to get them. Linking health insurance to employment creates other problems. In the United States, employment is the primary private source of group health insurance. Because employers with health benefit programmes bear a large percentage of the risk of health care directly (through self-insurance) or indirectly (through experience rated commercial insurance), employers have a tremendous incentive to discriminate in employment against actual or perceived high cost users of health benefits. Thus, in attempting to address genetic discrimination in health insurance, it is important not to shift the incentive to discriminate from health insurers to employers. Furthermore, the systemic problem is not simply relying on risk-based health insurance, it is relying on employer-financed, risk-based access to health benefits. If employers are to have a role in health finance (public or private), it should be limited to a flat, per-employee assessment. The new antidiscrimination law enacted in the United States, GINA, prohibits discrimination in employment but it does not prohibit employers from accessing employee health records, which might contain genetic information (Rothstein 2008). The preceding discussion raises the more general issue of justice in access to health insurance and health care. There is widespread agreement that a system that leaves tens of millions of its citizens without guaranteed access to health care is clearly unjust (Daniels 1985). There is less agreement on whether a system that bases the quality and method of delivering care on insurance coverage or ability to pay is also unjust (Oberlander 2006). For some people, it depends on how ‘quality’ is defined, whether all citizens have access to an adequate basic package of health benefits, and other issues. Countries with both public and private health care systems have long debated the ethics of ‘tiered’ health care. If genetic predisposition is permitted to be used to allocate access to private health care, there are important ramifications for both public and private health care systems. Some commentators have observed that private health insurance is regressive because lower income people pay a higher percentage of their income for health care than do people with a higher income (Havighurst and Richman 2006). By contrast, health systems funded from general government funds are progressive, assuming that general revenues are raised through a progressive income tax system. Medical underwriting, including the use of genetic information, has the potential to further decrease social solidarity by limiting access to health care (or the most desirable tier of health care) to those who are wealthy, well, predicted to be well, or some combination of these factors. It is beyond the scope of this chapter to recapitulate the ethical discourse on whether individuals should have a right of access to some level of health care and whether egalitarian interests require that all citizens have access to the same type of health care. The debate about genetic discrimination in health insurance, prominently but not exclusively in the United States, helps to bring these larger issues into focus. It also challenges policymakers to enact comprehensive measures rather than enact incremental reforms or fundamentally flawed genetic-specific laws. Life insurance Unlike health insurance, which varies based on the health care finance system of each country, life insurance is more uniform internationally in its product line and social function. Also, unlike health insurance, most life insurance is individually underwritten, 130
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thereby increasing the concern that genetic predictions of mortality risk could be used in deciding an individual’s insurability. In the United States, as evidenced by public opinion surveys (Rothstein and Hornung 2003; Genetics and Public Policy Center 2007) and the degree of legislative attention (National Conference of State Legislatures 2001), the use of genetic information in life insurance is of less concern than its use in health insurance. Nevertheless, the possible effect of genetics on life insurance is of substantial concern in the United States, Canada, Western Europe, and throughout the developed world (Knoppers et al. 2004). For example, according to one survey, all of the UK Genetics Centres reported that they had patients who refused to be tested for genetic susceptibility to breast cancer because of a fear of being unable to obtain insurance (Morrison 2005). At the present time, genetic information is not widely used by life insurers (Lowden 2004). Also, the advent of more widespread genetic testing has not changed the percentage of policy applicants offered coverage. In the United States, 88 per cent of applicants are offered coverage at preferred or standard rates, 6 per cent are offered coverage at higher rates, and 6 per cent are declined (National Conference of State Legislatures 2001: 27). Notwithstanding the current lack of use of genetic information, the situation could change. As the focus of genetic testing shifts from rare, monogenic disorders to more common, chronic, complex disorders (e.g. asthma, diabetes, epilepsy, hypertension), the amount of genetic information in the health records of individuals will expand. This information will be disclosed to insurers via individual authorisations in the process of medical underwriting. Furthermore, individual concerns about possible genetic discrimination already operate to discourage some at-risk individuals from undergoing genetic testing. The importance of the population health consequences of public policy regarding insurance cannot be overstated, especially in the current context where the progression of genetic research necessitate the use of vast regional or national biobank projects made possible by the participation of large cohorts of volunteers.. Life insurance companies have two principal concerns about genetic information. First, they assert that genetic information might be highly relevant in assessing an individual’s mortality risk, and there is little basis for treating genetic information differently from other health information used in underwriting (Zimmerman 1998). Although the number of highly predictive genetic tests is currently quite small, the number of tests and their predictive powers are likely to increase. Even if life insurers do not want to perform their own genetic tests, they have an interest in obtaining and using the results of genetic tests performed in the clinical setting. Second, insurers are concerned about information asymmetry and resulting adverse selection caused when individual applicants know of their genetically increased risks and insurers do not. They contend that if genetic testing becomes common, applicants for life insurance increasingly will have the results of predictive tests and those with the greatest need for life insurance will be more likely to seek it and in higher amounts (Meyer 2004; Pokorski 1995). The availability of home collection genetic testing sold on the internet makes direct-to-consumer testing increasingly common (Gollust et al. 2003). Consumers are concerned about life insurers invading their privacy to learn sensitive information about them or, worse, requiring that they learn information about their own genetic risks that they would prefer not to know (Andorno 2004). The information may have profound implications for the individual as well as the individual’s family members. In addition, consumers are concerned about ‘genetic discrimination’, which consumers believe could come about in one of two ways. First, consumers worry that life insurers will erroneously use genetic information to deny them access to life insurance or to charge them excessive rates. Second, consumers fear that life insurers may use genetic 131
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information accurately, but that the result will be to limit their access to or increase their costs for a financial product they need and to which they believe they should have some entitlement (Uhlmann and Terry 2004). It is too soon to tell the effects of genetic information on consumer behaviour. A source of great frustration for policy analysts and policymakers is the virtual absence of peerreviewed research. One of the only empirical studies in the United States suggests that women who learn of their increased risk of breast cancer do not attempt to purchase additional life insurance (Zick et al. 2000). It is also too soon to tell the effect of legislative or voluntary industry practices on commercial activity. For example, it has been asserted that no British insurers ‘have endured financial hardship in the 3–5 years of the moratorium [on using genetic tests for life insurance for mortgage cover below £500,000]’ (Morrison 2005: 879). It is often noted that life insurance in the United Kingdom is necessary to obtain a residential mortgage; therefore it is asserted to be a different product, presumably more immune from pressures of adverse selection. Nevertheless, it is the effect on insurers, not the reason for seeking coverage, that determines whether underwriting practices are undermined by individuals’ knowledge of their mortality risks. The ethical and policy issues depend on the social function or ‘moral mission’ of life insurance. If life insurance is considered a purely commercial transaction or a type of investment for estate building purposes, then a strong case can be made that limitations should not be placed on any type of medical underwriting so long as it is actuarially sound and the confidentiality of personal health information is scrupulously maintained. On the other hand, if providing a death benefit to survivors or ensuring the availability of a residential mortgage is deemed an essential public policy, then the government would be justified in regulating the process and criteria for obtaining life insurance coverage (Hunter 2004). In Western Europe, at least, life insurance is considered to possess both types of characteristics, commercial and social. Thus, in general, there is a considerable degree of regulation meant to provide citizens with a protected access to a minimum amount of life insurance. By contrast, in the United States, with the exception of a few states that have prohibited any use of predictive genetic information (without any apparent negative consequences on life insurers), there has been very little meaningful regulation of the use of genetic information in life insurance. The relative lack of regulation suggests that life insurance is considered more of a commercial transaction than an essential public good. The current legal framework in the United States also could lead to the conclusion that Americans may be willing to subsidise the health insurance of unhealthy individuals by paying the same rates for group health coverage, but most are currently unwilling to subsidise the purchase of life insurance by at-risk individuals by prohibiting life insurers from underwriting on the basis of health-based mortality risk (Rothstein 2004). As discussed in Section III, in developed countries outside of the United States, the issue of genetic information in life insurance is usually addressed in one or more of the following ways: status quo, prohibitive approach, fair limits approach, moratorium approach, or rational discrimination approach (see Appendices 1 and 2). Regardless of the substantive model of life insurance explicitly or implicitly adopted in each country, there may still be a need for ‘procedural’ regulation of genetic testing in life insurance because of the relative complexity and novelty of the tests and their interpretation. Thus, there may be a regulatory role in approving the laboratories performing genetic testing, in requiring that genetic counselling services be made available, in certifying or approving the credentials of individuals interpreting the genetic tests, and in other ways to bring transparency and accountability to the medical underwriting process. 132
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Other forms of insurance A variety of current and potential issues are raised by the application of genetic information in other insurance contexts. To a great extent, the importance of genetic information depends on whether payments for income replacement and health care are considered individual or societal responsibilities. For example, in the United States, private disability insurance, mostly individually purchased, provides income replacement for individuals who are unable to continue work after becoming disabled. There has been little debate yet about whether disability insurers should be permitted to use genetic information to predict future disability (Wolf and Kahn 2007). Similarly, private long-term care insurance, also largely individually purchased, is used in the United States to pay for the cost of private nursing homes and home health care. Of particular concern is the possibility that genetic markers of Alzheimer’s disease will become sufficiently robust to be used in medical underwriting for this insurance product (Rothstein 2001). There are strong economic pressures on insurers to use genetic tests or other measures of risk for Alzheimer’s disease as well as for individuals with knowledge of their risk to engage in adverse selection (Zick et al. 2005). As with health and life insurance, the perceived social role of the insurance product will determine the degree to which medical underwriting is likely to be regulated.
3 Comparative study of international approaches On the international scene, the progress of genomic research and the increase in number and quality of genetic tests has also had significant repercussions. The most important changes can be observed in Europe and Asia. In Europe, the tendency to legally prohibit access to genetic information by insurers is intensifying. In Asia, concerns about genetic ethics are pushing an increasing number of countries (India, Japan, the Philippines, Singapore and South Korea) to enact guidelines or laws addressing the issue of genetic discrimination. Conversely, Canada, Australia, New Zealand and South Africa are maintaining a ‘status quo’ position permitting the insurance industry to develop its own policies on genetics and insurance. Governments of these countries have chosen to wait and see rather than to take preventive legislative action. In the rest of the world, where personal insurance remains a luxury available only to the privileged (Hussels et al. 2005: 261), access to genetic information by insurers remains of little concern to the general population. The lack of empirical data on the impact of the use of genetic information by insurers observed in the United States remains a concern at the international level. The intense legislative activity observed in continental Europe seems to result more from anecdotal data, public pressure and activism rather than from truly informed opinions on the subject (Joly 2006: 15–16). In Australia, a large nationally funded study on genetic discrimination has been underway since 2002 (Taylor et al. 2004). The early results from this survey point to a low prevalence of alleged discrimination but nevertheless report incidences of coercion to undertake genetic tests and negative treatment following disclosure of test results (Taylor et al. 2007: 78; Taylor et al. 2008: 28–9). On the other side of the coin, insurers have yet to demonstrate through empirical evidence the existence of adverse selection following legislative prohibitions or moratoria on the use of genetic information (Daykin et al. 2003: 9). So far, the most compelling evidence gathered from the insurer’s side of the debate is coming from actuarial models 133
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(Macdonald 2003; Macdonald et al. 2006; Viswanathan 2007). However, this complex, controversial type of evidence has had only limited impact on academics and policymakers outside of the actuarial profession. The negative perception toward actuarial evidence is illustrated by Van Hoyweghen et al.: Although insurers like to refer to expert actuaries to provide scientific based solutions to public dilemmas of insurance and genetics [t]he issues at stake do not ask for scientific but for political solutions. The industry should not rely on statistics, but should reflect upon its values (Van Hoyweghen et al. 2005: 90) Indeed, in continental Europe, the population and the policymakers have been much less receptive to the concept of ‘rational discrimination’ than in America. International organisations (human rights approach) In the post-genomic era, UNESCO’s Universal Declaration on the Human Genome and Human Rights (UNESCO 1997) has had an undeniable influence on policymaking and research ethics around the globe. By its nature, the Declaration constitutes an affirmation of intent rather than a firm, legally binding commitment. However, its growing influence suggests that its content is slowly solidifying into new binding norms of international and national laws. On the topic of genetics and insurance, the Declaration stipulates that: ‘No one shall be subjected to discrimination based on genetic characteristics that is intended to infringe or has the effect of infringing human rights, fundamental freedoms and human dignity’ (UNESCO 1997: Section 6). This broad prohibition of genetic discrimination was also adopted by some of the most influential international organisations in genetic ethics, including the World Health Organisation, the World Medical Association and the Human Genome Organisation (Human Genome Organisation 2002; World Medical Association 2005, Section 19; World Health Organisation 2002: 156–60). Furthermore, in its 2003 Declaration on Human Genetic Data, UNESCO strengthened its former position, confirming its previous stand against genetic discrimination and adding, more specifically, that ‘human genetic data, human proteomic data and biological samples linked to an identifiable person should not be disclosed or made accessible to third parties, in particular, employers, insurance companies’ (UNESCO 2003: Section 14b). It should be noted that the Declaration does allow exceptions to this strict prohibition for public interest reasons or when the informed consent of the applicant has been freely given (UNESCO 2003: Section 14b). This growing international consensus against the use of genetic information by insurers has influenced the actions of policymakers in Europe and Asia. Europe In Europe, the 1997 Oviedo Convention on Human Rights and Biomedicine has been instrumental in the adoption of a restrictive prohibitive approach to resolve the genetics and insurance conundrum. This Convention is legally binding upon the members of the European Community that have ratified it. Prior to ratification, each state has to bring its laws into 134
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line with the Convention. This may require a change or not, or, a new law. Such legislation must include legal sanctions and require compensation for individuals who have suffered undue harm following medical treatment or research (Lemmens et al. 2004: 2) As of July 2008, 21 European countries (Bosnia and Herzegovina, Bulgaria, Cyprus, Czech Republic, Croatia, Denmark, Estonia, Georgia, Greece, Hungary, Iceland, Lithuania, Moldova, Norway, Portugal, Romania, San Marino, Slovakia, Slovenia, Spain, Turkey) had ratified the Convention (Council of Europe 2008). In these countries, any form of discrimination against a person on grounds of his or her genetic heritage is prohibited and the use of most genetic tests is restricted to health purposes or to scientific research linked to health purposes (Council of Europe 1997: Sections 11, 12). Several continental European countries (e.g. Austria, Belgium, France, Portugal, Switzerland and Sweden) have gone a step further than these general provisions and have specifically prohibited the use of genetic information by insurers. For example, in Portugal, the Law 12/2005 provides that ‘insurance companies may not request or use any kind of genetic information as a means of refusing life insurance or setting higher premiums’ (Portugal 2005: Section 12). Furthermore, ‘[i]nsurance companies may not use genetic information obtained from any genetic testing previously undertaken by current or potential clients for the purposes of life or health insurance or for any other purposes’ (ibid.). Another popular approach in Europe is that of voluntary restraint through a moratorium. It is best exemplified by the Concordat and Moratorium on Genetics and Insurance, an agreement between the United Kingdom Government and the Association of British Insurers (ABI) (United Kingdom Department of Health and Association of British Insurers 2005). This complex arrangement demonstrates the results that can be achieved by applying a flexible solution such as a moratorium to the issue of genetics and insurance. The Concordat and Moratorium restricts the ability of British insurers to make use of genetic information in the conclusion of life, critical illness, and income protection insurance. However, it makes exceptions for high-valued policies above a predetermined amount of money as well as for certain genetic tests that meet determined technical, clinical, and actuarial criteria (United Kingdom Department of Health and Association of British Insurers 2005: Section 20). Applicants are still allowed to disclose predictive genetic test results in their favour to override family history information (ibid.: Section 17). Following this approach, the United Kingdom moratorium incorporates elements of the ‘fair limits’ and ‘rational discrimination’ approaches. Interestingly, so far, only one test has been accepted by the Genetic and Insurance Committee (GAIC) which is responsible for evaluating the relevance of new genetic tests: the test for Huntington’s disease (Genetic and Insurance Committee 2000). In 2007, the ABI withdrew its applications for the evaluation of other tests and wrote to the Department of Health to confirm that it would not be submitting any new applications during 2006 and 2007 (Genetics and Insurance Committee 2007: 1). Other European countries using a moratorium approach include Finland, Germany, and the Netherlands (see Appendix 2). Some European countries have adopted other interesting solutions to resolve the conundrum. In Greece, for example, according to Law 2471/97 as interpreted by the Hellenic Data Protection Authority, all data pertaining to carriers of genetic information within an individual or genetic line, which relate to any aspect of health or a disease situation, whether the traits are definable/identifiable or not, are considered as ‘sensitive data’, the collection and processing of which is subject to special circumstances and 135
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security terms. A consequence of this data protection framework is that the collection and processing of genetic information in connection with insurance policy agreements, is at present prohibited in this country (Mangialardi et al. 2006: 98–9). In the Netherlands, the Act on Medical Examinations presents an example of a ‘fair limits’ approach. It stipulates that the results of medical examinations do not have to be supplied to purchase life or disability insurance policies valued under a certain predetermined amount (Netherlands 1998: Section 5). The Act, however, prohibits neither voluntary genetic tests nor the subsequent submission of their results to insurance companies.1 The intense legislative activity that has taken place in Europe can be attributed to the fact that in most European countries access to a minimal amount of life insurance is often necessary to acquire essential social goods such as housing, loans or transportation vehicles. Without access to a minimal amount of insurance, interest on the loan would rise substantially and so it is now viewed as a quasi-essential economic good that should be made available to everyone (Knoppers et al. 2004: 173–94). Asia Many Asian countries have become important participants in post-genomic scientific research (Triendl 2000; Zhenzhen 2004). For a while, scientific advancement and ethicosocial reflection did not seem to be progressing in Asia at the same pace as in North America and Europe. However, the recent debates around stem cell research and human cloning as well as UNESCO’s adoption of the Universal Declaration on Bioethics and Human Rights have convinced Asian countries to begin addressing the ethical social and legal issues raised by genomic advances (Gottweis and Triendl 2006; Hongladarom 2004; Doring 2003). It is in the wake of this new ethical awareness that an increasing number of Asian countries have decided to investigate the issue of genetic discrimination in insurance and to draft recommendations. South Korea has taken the strongest stance on genetics and insurance. Article 31 of the Korean Bioethics and Biosafety Act provides that: ‘No one shall be discriminated against in educational opportunities, in employment or promotion, or in eligibility for insurance coverage on the basis of his or her genetic information’ and that ‘unless specifically stated otherwise in a different law, no one shall force others to take DNA tests or to submit DNA test results’ (South Korea 2005: Section 31). The wording of the Korean law is interesting because it seems to allow greater flexibility to take into account future scientific developments than the wording of the more restrictive European prohibitive approach. In other Asian countries (e.g. Japan, India, Singapore and the Philippines), the reflection on genetics and insurance is still in its infancy. Although ethical guidelines in these countries recognise the problem, they do not constitute a real attempt to regulate it. For example, the Philippines National Guidelines for Health Research stipulates that ‘There is potential harm to participants arising from the use of genetic information, including stigmatisation or unfair discrimination. Researchers should take special care to protect the privacy and confidentiality of this information.’ Moreover, ‘[i]dentifying genetic information must not be released to others, including family members, without the written consent of the individual to whom the information relates, or a person or institution which may legally provide consent for that person’ (Philippine Council for Health Research and Development 2006: 61). Asian insurers are also becoming more interested in the debate. The Life Insurance Association of Singapore recently released a position paper on genetics and insurance 136
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strongly influenced by the ‘status quo’ position. In this paper, the Association commits itself not to impose genetic testing on life or health insurance applicants, but it expresses some concerns about the possibility that withholding genetic test information from insurers could eventually become enshrined as a right. The Association also stated its readiness to engage in a dialogue with the Bioethics Advisory Committee of Singapore to establish a Code of Conduct for the use of genetic test information by insurers and to improve the overall transparency of the underwriting process (Life Insurance Association of Singapore 2006). It will be interesting to follow the development of the ethics of genetics and insurance in Asia over the next few years. The particular nature of Asian bioethics as well as the recent commitment of Asian institutions to genetic ethics could foster interesting new solutions to an ongoing debate. The ‘status quo’ countries The governments of Canada, Australia, New Zealand and South Africa have chosen to take a wait-and-see approach to the use of genetic information by insurers rather than to risk adopting quick fixes to an issue that is still evolving. Thus, insurers in these countries have so far been able to create their own rules pertaining to the use of genetic information in connection with life insurance contracts. The major insurance organisations of each of these four countries have felt the necessity to adopt an official, public position on the issue of genetics and insurance (Canadian Life and Health Insurance Association 2003; Life Offices Association of South Africa 2001; Investment and Financial Services Association Limited 2005; Investment Savings and Insurance Association of New Zealand Incorporated 2000). These positions are similar in content; they are all against an imposition of genetic testing on life insurance applicants but in favour of a duty to disclose the results of genetic tests previously undertaken. The industry acknowledges that most genetic tests for multifactorial diseases are of limited relevance but feel it would be unfair if insurers were denied access to the increasingly vast amount of information that could fit under the broad umbrella of genetics today. In Australia and Canada, the position of the insurance industry has been criticised and recommendations have been made for the adoption of a moratorium or ‘fair limits’ approach. Studies on the impact of genetic discrimination and on the use of genetic information by insurers as well as governmental inquiries are underway in some of these countries in order to inform future policymaking (Taylor et al. 2008). At the global level, there is an emerging ethical consensus that genetic discrimination should be prohibited. However, the fervour to distinguish genetic information from other types of information and subject it to special legislation has had a paradoxical impact. The prohibition against discrimination on the basis of genetic characteristics has reinforced the cultural belief in the exceptional status of genetic information, which is precisely what the legal regulations were supposed to prevent in the first place (Lemke 2005: 33; Joly 2006:18). Although various solutions to prevent genetic discrimination have been implemented nationally (prohibitive approach; fair limits approach, legislative approach, moratorium approach and rational discrimination approach), the issue is far from settled. The legal framework used to prevent genetic discrimination is complicated, confusing and uncertain (Greely 2005). In the absence of sufficient evidence, important questions remain unanswered, thereby forcing policymakers to progress in the dark. It will be interesting in the medium to long term to monitor how successful the various 137
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approaches will be at alleviating the fears (both imaginary and well founded) of genetic discrimination in the populations of these countries.
4 Conclusion There is no rational justification for policies that categorically distinguish between insurers’ use of genetic and non-genetic information in predicting morbidity and mortality. Genetic information may currently be perceived by many as different and as more sensitive than other types of predictive health information. However, genetic exceptionalism is a self-fulfilling prophecy, and the more policymakers and the public treat genetic information as special, the more it will be regarded as needing unique treatment. The use of genetic information in health insurance is merely a subset of the use of predictive health information to determine access to insurance. The use of any form of medical underwriting for health insurance raises profound social and political questions, and the role of genetic information cannot be isolated in the policy debate. Furthermore, it is clear that, at least in the United States, the ultimate solution to the use of genetic information requires comprehensive reform of the health finance system. The question of life insurance is more complex. Life insurance is perceived as a purely commercial good in many developed countries, but in some others (especially in Europe), it is considered a quasi-essential social good. The ‘rational discrimination’ approach could constitute an interesting minimal solution. The use of an independent body to control the scientific validity and clinical significance of genetic information before it is used for insurance underwriting could significantly appease the worries of the population about genetic discrimination. In North America and Asia, this approach, linked with the use of more transparent underwriting practices, may serve to respond to the life insurance and genetics dilemma without fostering genetic exceptionalism. In the European context, however, these solutions would be insufficient at this stage to restore the faith of the public and policymakers in the capacity of the life insurance system to handle genetic information in a satisfactory manner. In this socially and politically charged environment, the use of moratoria would appease the tensions surrounding the use of genetic information by life insurers without constituting as cumbersome a mechanism as the prohibitive approach that is currently followed. The search for solutions to the problems of genetics and insurance should not be undertaken in the dark. It remains of paramount importance that research initiatives be put forward to provide much needed empirical data on genetic discrimination, adverse selection, and other core concepts. Such research should be encouraged by policymakers, and it would benefit from collaborating with industry. In the rapidly evolving post-genomic world, legislating blindfolded does not seem to be the most appropriate solution.
Appendix 1 Main international approaches ‘Fair limits’ approach An approach permitting insurers to access and to use genetic information for insurance underwriting only for policies above a legislatively predetermined amount of money. 138
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Human rights approach An approach stemming from the field of international human rights law aiming to prevent the discrimination of individuals on the basis of genetic information. It generally proscribes differential treatment of individuals on the basis of genetic information. Human rights instruments will usually complement this broad prohibition with a ‘therapeutic’ clause intended to limit the use of genetic information to research or health purposes. Moratorium approach A voluntary agreement by a group of insurers (often through an official representative organisation), to neither request genetic testing of insurance applicants nor to use genetic test results for a certain period of time. Prohibitive approach A legislative approach aimed at specifically prohibiting access to or use of genetic information by the insurance industry. ‘Rational discrimination’ approach An approach permitting the use of genetic information for insurance underwriting only after it has been deemed scientifically valid and clinically significant by an independent expert scientific panel. Status quo: A wait-and-see default approach to the use of genetic information by insurers. This approach allows insurers to develop their own rules pertaining to the use of genetic information in connection with insurance contracts without intervention from the government.
Appendix 2 Table 10.1 Comparative table: genetics and insurance
Country
Approach
Instrument
Austria Australia Belgium
Prohibitive Status quo Prohibitive
Bosnia and Herzegovina
Human rights
Brazil
Other (non-binding recommendations)
Bulgaria
Human rights
Canada
Status quo
Cyprus
Human rights
Czech Republic
Human rights
Croatia
Human ights
Denmark
Prohibitive Human Rights
Gene Technology Act of 1995 IFSA, Genetic Testing Policy (2005) Law of 25 June 1992 on the Non-Marine Insurance Contract Convention on Human Rights and Biomedicine (1997) Resolution 340/2004: on Research on Human Genetics (2004) Convention on Human Rights and Biomedicine (1997) CLHIA, Position Statement on Genetics Testing (2003) Convention on Human Rights and Biomedicine (1997) Convention on Human Rights and Biomedicine (1997) Convention on Human Rights and Biomedicine (1997) Insurance Contracts Act (1997) Convention on Human Rights and Biomedicine (1997)
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Table 10.1 (continued) Country
Approach
Estonia
Prohibitive Human rights
Finland France
Germany Georgia
Greece Hungary Iceland India Ireland Israel Italy Japan
Latvia Lithuania Luxembourg Moldova Netherlands
New Zealand
Instrument
Human Genes Research Act (2001) Convention on Human Rights and Biomedicine (1997) Moratorium Federation of Finnish Insurance Companies (now Federation of Finnish Financial Services) Moratorium (1999) Prohibitive Law No. 2002-303 of 4 March 2002 on Human Rights Patients’ Rights and the Quality of the Health System Article 16-13 of the Civil Code Moratorium German Insurance Association, Voluntary ‘Fair limits’ Formal Commitment (2004) Human rights Law of Georgia of 5 May 2000 on the Rights of Patients Convention on Human Rights and Biomedicine (1997) Other (data protection) Law 2472/1997 on the Protection of Individuals with regard to the Processing of Personal Data Human rights Convention on Human Rights and Biomedicine (1997) Human rights Convention on Human Rights and Biomedicine (1997) Other (ethical Indian Council of Medical Research, guidelines) Ethical Guideline for Biomedical Research Involving Human Subjects (2000) Prohibitive The Disability Act (2005) ‘Fair limits’ Prohibitive Genetic Information Law (2000) Other (ethical Bioethical Guidelines for Genetic guidelines) Testing (1999) Other (ethical Guidelines for Genetic Testing, using DNA guidelines) analysis (1995) Ethical Guidelines for Analytical Research on the Human Genome/Genes (2001) Human rights Human Genome Research Law (2002) Human rights Convention on Human Rights and Prohibitive Biomedicine (1997) Law on Insurance 2003 No. IX-1737 Prohibitive Law of 27 July 1997 on the Insurance Contract Human rights Convention on Human Rights and Biomedicine (1997) Moratorium Association of Insurers, Moratorium on ‘Fair limits’ Genetic Investigation – Policy of Disablement and Life Insurers on Genetic Investigations (December 1990) The Act on Medical Examinations (1998) Status quo The Investment Savings and Insurance Association of New Zealand, Policy on Genetic Testing (2000)
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Table 10.1 (continued) Country
Approach
Instrument
Norway
Human rights Prohibitive
Philippines
Other (ethical guidelines) Human rights Prohibitive
Convention on Human Rights and Biomedicine (1997) Act of 5 December 2003 No. 100 relating to the application of biotechnology in human medicine, etc. Ethical Guidelines for Genetic Research with a Section on Stem Cell Research (2006) Convention on Human Rights and Biomedicine (1997) Law 12/2005 (26 January) Convention on Human Rights and Biomedicine (1997) Convention on Human Rights and Biomedicine (1997) Life Insurance Association, Genetics and Life Insurance (2006) Convention on Human Rights and Biomedicine (1997) Convention on Human Rights and Biomedicine (1997) LOA, LOA Code on Genetic Testing (2001) Bioethics and Biosafety Act (2005) Convention on Human Rights and Biomedicine (1997) The Spanish Constitution (1978) Law No. 351 of 18 May 2006 on genetic integrity Swiss Federal Law on the Genetic Testing of Humans (2004) Convention on Human Rights and Biomedicine (1997) Concordat and Moratorium on Genetics and Insurance (2005)
Portugal Romania
Human rights
San Marino
Human rights
Singapore
Status quo
Slovakia
Human rights
Slovenia
Human rights
South Africa South Korea Spain
Status quo Human rights Human rights
Sweden
Prohibitive ‘Fair limits’ Prohibitive ‘Fair limits’ Human rights
Switzerland Turkey United Kingdom United States
Moratorium ‘Fair limits’ ‘Rational discrimination’ Prohibitive State health insurance laws; Health Insurance Status quo Portability and Accountability Act (1990); Genetic Information Nondiscrimination Act (2008). As to life insurance, with only a few states adopting prohibitive approaches
References Andorno, Roberto (2004) ‘The right not to know: an autonomy based approach’, Journal of Medical Ethics, 30: 435–9. Andrews, Lori B. and Zuiker, Erin S. (2003) ‘Ethical, legal, and social issues in genetic testing for complex genetic disease’, Valparaiso Law Review, 37: 793–829. Burke, Wylie (2002) ‘Genetic testing’, New England Journal of Medicine, 347: 1867–75. Canadian Life Insurance Association (2003) ‘Reference document: genetic testing: industry position’; online: www.clhia.ca/download/genetic_testing_ind_posn.pdf (last accessed 17 May 2007).
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Collins, Francis S. and Watson, James D. (2003) ‘Genetic discrimination: time to act’ (editorial), Science, 302: 745. Council of Europe (1997) Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine, Oviedo. —— (2008) Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine CETS No. 164, Oviedo. Daniels, Norman (1985) Just Health Care. Cambridge, MA: Cambridge University Press. —— (2004) ‘The functions of insurance and the fairness of genetic underwriting’, in Mark A. Rothstein (ed.) Genetics and Life Insurance: Medical Underwriting and Social Policy. Cambridge, MA: MIT Press. Daykin, C.D., Akers, D.A., McDonald, A.S., McGleenan, T., Paul, D. and Turvey, P. (2003) ‘Genetics and insurance – some policy issues’, presented to the Institute of Actuaries, 24 February 2003, available at www.actuaries.org.uk_data/assets/pdf_file/0016/31624/sm030224.pdf (last accessed 30 June 2008). Dicke, Arnold (2004) ‘The economics of risk selection’, in Mark A. Rothstein (ed.) Genetics and Life Insurance: Medical Underwriting and Social Policy. Cambridge, MA: MIT Press. Doring, Ole (2003) ‘Searching for advances in biomedical ethics in China: recent trends’, China Analysis, 27: 1–13. Genetest.org (2008) www.genetest.org (last accessed 30 June 2008). Genetics and Insurance Committee (2000) ‘Huntington’s disease’, online: www.advisorybodies.doh. gov.uk/genetics/gaic/huntingtons-oct00.pdf (last accessed on 17 May 2007). —— (2007) ‘Genetics and Insurance Committee fifth report from January 2006 to December 2006’, annual report, online: www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyA ndGuidance/DH_074088 (last accessed 17 May 2007). Genetics and Public Policy Center (2007) ‘US public opinion on uses of genetic information and genetic discrimination’, online: www.dnapolicy.org/resources/GINAPublic_Opinion_Genetic_Infor mation_Discrimination.pdf (last accessed 12 July 2007). German Bundestag (2002) Law and Ethics in Modern Medicine. Berlin. Gleeson, Robert K. (2004) ‘Medical underwriting’, in Mark A. Rothstein (ed.) Genetics and Life Insurance: Medical Underwriting and Social Policy. Cambridge, MA: MIT Press. Gollust, Sarah E., Wilfond, Benjamin S. and Hull, Sara Chandros (2003) ‘Direct-to-consumer sales of genetic services on the internet’, Genetics in Medicine, 5 :332–40. Gottweis, Herbert and Triendl, Robert (2006) ‘South Korean policy failure and the Hwang debacle’, Nature Biotechnology, 24, 2: 141–3. Greely, Henry T. (2005) ‘Banning genetic discrimination’, New England Journal of Medicine, 353: 865–7. Hall, Mark A. et al. (2005) ‘Concerns in a primary care population about genetic discrimination by insurers’, Genetics in Medicine, 7: 311–16. Havighurst, Clark C. and Richman, Barak D. (2006) ‘Distributive injustice(s) in American health care’, Law and Contemporary Problems, 69, 4: 7–82. Hongladarom, Sojar (2004) ‘Asian bioethics revisited: what is it? and is there such a thing?’, Eubios Journal of Asian Bioethics and International Bioethics, 14: 194–7. Human Genome Organization (2002) ‘Ethics Committee statement on human genomic databases’, online: www.hugo international.org/Statement_on_Human_Genomic_Databases.htm (last accessed on 17 May 2007). Hunter, J. Robert (2004) ‘A consumer agenda’, in Mark A. Rothstein (ed.) Genetics and Life Insurance: Medical Underwriting and Social Policy. Cambridge, MA: MIT Press. Hussels, Stephanie, Ward, Damian and Zurbruegg, Ralf (2005) ‘Stimulating the demand for insurance’, Risk Management and Insurance Review, 8, 2: 257–78. Investment Savings and Insurance Association of New Zealand Incorporated (2000) ‘ISI underwriting guide’, online: www.isi.org.nz/files/ISI%20Underwriting%20Guide.PDF (last accessed 17 May 2007). Investment and Financial Services Association Limited (2005) ‘Genetic testing policy’, online: www.ifsa. com.au/documents/IFSA%20Standard%20No%2011.pdf (last accessed 17 May 2007).
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Joly, Yann (2006) ‘Life insurers access to genetic information: a way out of the stalemate?’, Health Law Review, 14, 3: 14–21. Knoppers, Bartha M., Godard, Beatrice and Joly, Yann (2004) ‘A comparative international overview’, in Mark A. Rothstein, (ed.) Genetics and Life Insurance: Medical Underwriting and Social Policy. Cambridge, MA: MIT Press, pp. 173–94. Lemke, Thomas (2005) ‘Beyond genetic discrimination. problems and perspectives of a contested notion’, Genomics, Society and Policy, 1, 3:22–40. Lemmens, Trudo, Knoppers, Bartha Maria and Emanuel, Ezekiel J. (2004) ‘Genetic and life insurance: a comparative analysis’, GenEdit, 2, 2: 1–15. Life Insurance Association of Singapore (2006) ‘Genetics and life insurance’, online: www.bioethicssing apore.org/resources/pdf/Genetics%20and%20Life%20Insurance.pdf (last accessed 17 May 2007). Life Offices of South Africa (2001) ‘Code of Conduct: Chapter 20: Code on genetic testing in LOA Code of Conduct, online: www.loa.co.za/downloads/CodeOfConduct/Chapter20.pdf (last accessed 17 May 2007). Lowden, J. Alexander. (2004) ‘Genetic risks and mortality rates’, in Mark A. Rothstein (ed.) Genetics and Life Insurance: Medical Underwriting and Social Policy. Cambridge, MA: MIT Press. Macdonald, A.S. (2003) ‘Moratoria on the use of genetic tests and family history for mortgage-related life insurance’, British Actuarial Journal, 9, 1: 217–37. Macdonald, A.S., Pritchard, Delme and Tapadar, Pradip (2006) ‘The impact of multifactorial genetic disorders on critical illness insurance: a simulation study based on UK Biobank’, ASTIN Bulletin, 36: 311–46. Mangialardi, Eduardo, Pantanli, Norberto Jorge and Quintana, Enrique Jose (October, 2006) ‘The influence of technological and scientific innovation on personal insurance’, presented at the XII World Conference on Insurance Law, Buenos Aires; online: www.aida.org.uk/pdf/questionnaire1. pdf (last accessed 17 May 2007). Meyer, Roberta B. (2004) ‘The insurer perspective’, in Mark A. Rothstein (ed.) Genetics and Life Insurance: Medical Underwriting and Social Policy. Cambridge, MA: MIT Press. Morrison, Patrick J. (2005) ‘Insurance, unfair discrimination, and genetic testing’, The Lancet, 366: 877–80. National Conference of State Legislatures (NCSL) (2001) Genetics Policy Report: Insurance Issues, ed. Cheye Calvo and Alissa Johnson. Denver, CO: NCSL. —— (2008) ‘State genetic discrimination in health insurance laws’, online: at www.ncsl.org/programs/ health/genetics/ndishlth.htm (last accessed 30 June 2008). Netherlands (1998) Dutch Act on Medical Examinations Staatsblad (Official Gazette) 1997, 365; online: www.overheid.nl (last accessed 17 May 2007). Oberlander, Jonathan (2006) ‘The political economy of unfairness in US health policy’, Law and Contemporary Problems, 69, 4: 245–64. Philippine Council for Health Research and Development (2006) ‘National ethical guidelines for health research’, Manila; online: https://webapps.sph.harvard.edu/live/gremap/files/ph_natl_ethical_gdlns. pdf (last accessed on 17 May 2007). Pokorski, Robert J. (1995) ‘Genetic information and life insurance’, Nature, 376: 13–14. Portugal (2005) Law on Genetic Information, Law 12/2005 (adopted 26 January 2005). Radetzki, Marcus, Radetzki, Marian and Juth, Niklas (2003) Genes and Insurance: Ethical, Legal and Economic Issues. Cambridge, UK: Cambridge University Press. Rincon, Paul (2007) ‘Insurers mull cancer gene tests’, BBC News, 8 May 2007; online: http://news.bbc. co.uk/2/hi/health/6634969.stm (last accessed 17 May 2007). Rothstein, Mark A. (2001) ‘Predictive genetic testing for Alzheimer’s disease in long-term care insurance’, Georgia Law Review, 35: 707–33. —— (2004) ‘Policy recommendations’, in Mark A. Rothstein (ed.) Genetics and Life Insurance: Medical Underwriting and Social Policy. Cambridge, MA: MIT Press. —— (2005) ‘Genetic exceptionalism and legislative pragmatism’, Hastings Center Report, 35, 4: 27–33. —— (2008) ‘Is GINA worth the wait?’ Journal of Law, Medicine and Ethics, 36: 174–8.
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Rothstein, Mark A. and Anderlik, Mary R. (2001) ‘What is genetic discrimination and when and how can it be prevented?’ Genetics in Medicine, 3: 354–8. Rothstein, Mark A. and Hornung, Carlton A. (2003) ‘Public attitudes about pharmacogenomics’, in Mark A. Rothstein (ed.) Pharmacogenomics: Social, Ethical, and Clinical Dimensions. Hoboken, NJ: John Wiley and Sons. Slaughter, Louise M. (1998) ‘Genetic information must remain private to prevent discrimination’, Spur Research, Genetic Testing, 2: 17–35. South Korea (2005) Bioethics and Biosafety Act, Act No. 7150 (effective 1 January 2005). Taylor, Sandra T., Otlowski, Margaret, Barlow-Stewart Kristine, Treloar, Susan, Stranger, Mark and Chenoweth, Kellie (2004) ‘Investigating genetic discrimination in Australia: opportunities and challenges in the early stages’, New Genetics and Society, 23, 2: 225–39. Taylor, Sandra, Treloar, Susan, Barlow-Stewart, Kristine, Otlowski, Margaret and Stranger, Mark (2007) ‘Investigating genetic discrimination in Australia: perceptions and experiences of clinical genetics service clients regarding coercion to test, insurance and employment’, Australian Journal of Emerging Technologies and Society, 5, 2: 63–83. Taylor, Sandra, Treloar, Susan, Barlow-Stewart, Kristine, Stranger, Mark and Otlowski, Margaret (2008) ‘Investigating genetic discrimination in Australia: a Large-scale survey of clinical genetics clients’, Clinical Genetics, 74, 1: 20–30. Triendl, Robert (2000) ‘Genomics forges ahead in East Asia’, Nature Biotechnology, 18: 278–9. Uhlmann, Wendy R. and Terry, Sharon F. (2004) ‘Perspectives of consumers and genetics professionals’, in Mark A. Rothstein (ed.) Genetics and Life Insurance: Medical Underwriting and Social Policy. Cambridge, MA: MIT Press. United Kingdom Department of Health and Association of British Insurers (ABI) (2005) ‘Concordant and moratorium on genetics and insurance’, London: online: www.abi.org.uk/Display/File/Child/ 106/Concordat_and_Moratorium.pdf (last accessed 17 May 2007). UNESCO (1997) Universal Declaration on the Human Genome and Human Rights, 29th session, Paris: UNESCO. —— (2003) International Declaration on Human Genetic Data, 32nd session, Paris: UNESCO. Van Hoyweghen, Ine, Horstman, Klasien and Schepers, Rita (2005) ‘“Genetics is not the issue”: insurers on genetics and life insurance’, New Genetics and Society, 24, 1: 79–98. Viswanathan, Krupa S. (2007) ‘Adverse selection in term life insurance purchasing due to the BRCA ½ genetic test and elastic demand’, Journal of Risk and Insurance, 74, 1: 65–86. Wolf, Susan M. and Kahn, Jeffery P. (2007) ‘Genetic testing and the future of disability insurance: ethics, law and policy’, Journal of Law, Medicine and Ethics, 35: 6–32. World Health Organisation (2002) ‘Genomics and world health’, Geneva, online: http://whqlibdoc. who.int/hq/2002/a74580.pdf (last accessed 17 May 2007). World Medical Association (2005) ‘The World Medical Association statement of genetics and medicine’, adopted by the WMA General Assembly, Santiago; online: www.wma.net/e/policy/g11.htm (last accessed 17 May 2007). Zhenzhen, Li (2004) ‘Health biotechnology in China – reawakening of a giant’, Nature Biotechnology, 22 (Supplement): DC13–DC18. Zick, Cathleen D., Matthews, Charles J., Roberts, J. Scott, Cooke-Deegan, Robert, Pokorski, Robert and Green, Robert (2000) ‘Genetic testing, adverse selection, and the demand for life insurance’, American Journal of Medical Genetics, 93: 29–39. —— (2005) ‘Genetic testing for Alzheimer’s disease and its impact on insurance purchasing behavior’, Health Affairs, 24: 483–90. Zimmerman, Steven E. (1998) ‘The use of genetic information by life insurance companies: does this differ from the use of routine medical information?’, Genetic Testing, 2: 3–8.
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11 On a critical path Genomics, the crisis of pharmaceutical productivity and the search for sustainability Paul Martin, Michael Hopkins, Paul Nightingale and Alison Kraft
1 The development of the bioeconomy and the promise of genomics 1.1 The idea of the bioeconomy It is widely assumed by both policy makers and social scientists that the development of biotechnology and the commodification of genes, cells, tissue and whole organisms will stimulate a new field of economic activity through the creation of high technology firms and jobs, and the sale of novel biological products. These assumptions have played a major role in shaping UK science and technology policy (Hopkins et al. 2007a), as well as the research agenda for social scientists in this field. For example, Waldby and Mitchell (2006) have developed the idea of the tissue economy to explore the ways in which blood, organs and cell lines are becoming part of a system of economic exchange. Others, such as Sunder Rajan (2006) and Rose (2007), have explored the more general idea of the bioeconomy both empirically and conceptually. Genomics has been seen as lying at the heart of this new bioeconomy. At the time of the launch of the Human Genome Project in 1991 and subsequently, following its completion in 2003, a series of major expectations have been linked to the economic potential and impact of genomics. For example, the House of Commons Science and Technology Committee (1995) noted in its landmark report on human genetics that ‘even the most cautious commentators expect genetic science to transform medicine’ (paragraph 65). In particular, these hopes have included the promise of a new wave of innovation within the pharmaceutical industry stimulated by the discovery of the genetic defects associated with common diseases, a large number of new drug targets, novel biological therapies and a better understanding of human pathology. This is well summarised by a major corporate investor in early genomics: Before new technologies made genomics possible at the beginning of this decade [the 1990s] geneticists found genes by stalking rare mutations … the hunt for a 145
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single gene could take decades. Now sophisticated high-speed sequencing strategies pioneered by SB’s collaborators [Human Genome Sciences] generate sequences from more than twenty thousand genes per year … each new gene is potentially the key to a treatment – and a new product. (SmithKline Beecham PLC 1994: 5) This promise was, in turn, seen to lay the foundation for the creation of a new wave of biotechnology and genomics firms, some of which might ultimately threaten the dominance of established pharmaceutical companies. Genomics might therefore usher in a Schumpeterian wave of ‘creative destruction’ in which established bio/pharmaceutical industries and associated healthcare services would be fundamentally restructured. However, it is clear with the benefit of hindsight that many of these expectations have been unrealistic. One of the aims of this chapter is to make an assessment of the impact genomics has had on the pharmaceutical and biotechnology industries, the development of new therapies and the growth of the bioeconomy. 1.2 What is genomics? The Oxford English Dictionary (OED) attributes the term ‘genome’ to plant biologist Hans Winkler in 1920 and according to Lederberg and McCray (2001) his book defined it as follows: ‘I propose the expression Genom for the haploid chromosome set, which, together with the pertinent protoplasm, specifies the material foundations of the species.’ However, it must be remembered that this formulation of the genom as the foundation of life occurred before DNA was established as the material basis of heredity and it was only in 1977 that Victor McKusick and Frank Ruddle coined ‘genomics’ as a catchphrase to describe a new journal dedicated to gene mapping and sequencing (Lederberg and McCray 2001). The emergence of the contemporary field of genomics can be traced back more recently to the development of novel instrumentation to aid the sequencing of DNA by firms such as Applied Biosystems Inc. (ABI) (Rabinow 1996; Applied Biosystems Inc. 2003). As a result of early successes in identifying and characterising genes for conditions such as Huntingtons Disease, the momentum behind the molecular analysis of disease genes increased throughout the 1980s, among both researchers and policymakers, culminating in a massive injection of funding to support the Human Genome Project (HGP) (Watson 1992: 165), which eventually commenced in January 1991 (Kevles 1992: 36). The key to this becoming possible was the high-speed automation of DNA sequencing developed by researchers from Caltech working in collaboration with ABI. These machines reduced the cost and increased the speed of research, both by orders of magnitude (Wada 1987) and made the analysis of large stretches of DNA possible for the first time. While the HGP has in effect defined the field of genomics in the public imagination, it must be stressed that the term itself has no internationally agreed meaning. In the years following the start of large-scale sequencing many applications and technologies have been labelled as being ‘genomic’ and the term has been used in a fluid and changing fashion. 1.3 The genomics ‘gold rush’ The first signs of commercial interest in the economic potential of genomics came in 1991 when Craig Venter, an investigator at the US National Institutes of Health (NIH) 146
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announced that he had filed patents on 2,750 partial cDNA sequences associated with coding genes (Eisenberg 1992). These were known as expressed sequence tags or ESTs and could be used as probes to identify full-length genes. However, these sequences revealed little about the nature of gene function and in 1992 the US Patent and Trademark Office (USPTO) ruled that these sequences could not be protected. Following the controversy provoked by these patent applications, Venter left NIH in 1992 to simultaneously co-found the not-for-profit Institute for Genomics Research (TIGR) with $70m of private investment and one of the first commercial genomics firm, Human Genome Sciences (HGS) (Anderson 1992). In the next few years a series of first generation genomics firms were created to exploit the commercial promise of genomics (see Table 11.1). These included 11 other US firms, most notably Incyte Pharmaceuticals (1991), Millennium Pharmaceuticals (1993) and Myriad Genetics (1991). The only significant European player was the French firm Genset, which was founded in 1989. This followed the creation of the first physical map of the human genome in 1993 by the charity-funded laboratory Généthon working with academics at CEPH. Genset subsequently launched the field of pharmacogenomics with a landmark collaboration with Abbot in 1997. This first wave of firms included both contract sequencers, who acted as third-party suppliers of sequencing technology, and a larger group of firms who were initially committed to discovering genes for common diseases and selling access to the gene sequence information they found in the form of large databases. The value of the latter Table 11.1 The founding and focus of the first generation genomics firms
Firm
Location
Date
Initial focus
Longer-term strategy (~2000)
SEQ Ltd
US
1987
Genset
France
1989
Incyte Pharmaceuticals Myriad Genetics
US
1991
US
1991
Contract sequencing and technology Gene sequence database and gene discovery Gene sequence and expression database Gene discovery
Genome Systems
US
1992
Human Genome US Sciences Mercator Genetics US
1992
Millennium US Pharmaceuticals Sequana US Therapeutics Darwin Molecular US
1993
Contract sequencing and supply of DNA clones Gene sequence database and gene discovery Contract sequencing and gene discovery Gene discovery
Disinvested from genomics in mid 1990s Pharmacogenetics, drug discovery and development Drug discovery and development Diagnostics; drug discovery and development Acquired by Incyte in 1996
1993
Gene discovery
1994
Gene discovery
Genome Therapeutics Hyseq (Nuvelo)
US
1994
US
1994
Gene sequence database and gene discovery Contract sequencing
1992
Biological drug discovery and development Acquired by Progenitor in 1997 for $22m Small molecule drug discovery and development Acquired in by Arris in 1997 for $166m Acquired by Chiroscience in 1996 Gene sequence database and gene discovery Biological drug discovery and development
Source: Company websites.
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quickly became apparent in 1993 when HGS signed a major collaborative agreement with the top-tier pharmaceutical company SmithKline Beecham. The alliance was very large in scale at the time ($125m) and initially gave SmithKline Beecham exclusive access to the gene sequence data that HGS was producing (Gershon 1993). This deal was important in setting several precedents: first, that front loading the pharmaceutical R&D process with new drug targets1 from genomics might be an important new paradigm for drug discovery and development; and secondly, that genes in themselves were valuable intellectual property. In the next few years a significant number of major pharmaceutical companies invested in a series of high-value collaborations with genomics firms and leading universities in order to get access to sequence and gene expression data. These included Astra, GlaxoWellcome, Merck, Pfizer and Zeneca. Growth of a second generation of firms As the genomics sector developed in the mid to late 1990s the first generation of dedicated companies started to move away from contract sequencing, databases and gene discovery, and began to explore the characterisation of genes and gene products (socalled functional genomics). At the same time, a much larger number of new ‘second generation’ genomics companies were founded to work on the biological characterisation of gene-based drug targets (target validation), and the development of the technologies required to achieve this (Rothman and Kraft 2006). The growth of these companies is shown in Figure 11.1 and illustrates a near exponential expansion of the genomics industry between 1990 and 1998. By the late 1990s a large genomics industry of nearly 80 mainly US firms had become established, focused on target identification and validation, and the development of genomic technology platforms. At the same time, large pharmaceutical companies were increasingly investing in genomics both through the development of their own in-house sequencing capabilities, as well as large numbers of external collaborations with small
Figure 11.1 The growth in firms working on target identification and validation Source: Reproduced from Hopkins M. M., Kraft K., Martin, P.A., Nightingale, P. and Mahdi S. (2007) Is the biotechnology revolution a myth? Comprehensive Medicinal Chemistry (2nd Ed) Volume 1. Taylor and Triggle (eds) Elsevier, p. 596.
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genomics companies. Figure 11.2 shows the massive rise in the number of collaborations involving genomics firms in the area of drug target identification and validation, with a total of some 500 deals signed in the eights years following the creation of Human Genome Sciences. The great majority of these collaborations were with large companies and this further intensified the general trend towards a highly networked structure for the industry and the outsourcing of pharmaceutical R&D (see below). By the year 2000 many dedicated genomics firms were increasingly establishing their own drug discovery and development programmes. This represented an important shift from the early stages of the drug innovation cycle towards the latter stages concerned with drug development and clinical testing (Rothman and Kraft 2006). In part, this was driven by the rapid fall in the cost of gene sequencing and the integration of large-scale sequencing capabilities into large pharmaceutical companies themselves. As a consequence, contract sequencing started to become a low-margin commodified activity and the value of gene sequence databases fell. Furthermore, the industry was flooded with newly identified genes, many of which might be involved in pathology, but about which almost nothing was known. In contrast, by looking to validate the biological importance of new druggable gene targets and identify drugs based on this knowledge, genomics firms were perceived as holding the potential to transform the productivity of the entire pharmaceutical industry. As a consequence, investors placed high values on these companies. At the height of the US technology bull market in 2000, the peak valuation of the six leading public genomics firms totalled over $45bn (Genset $1.9bn, Human Genome Sciences $13.0bn, Hyseq $1.9bn, Incyte $9.2bn, Millennium $16.9bn, Myriad $3.0bn). At this point, the genomics industry looked set to become established in its own right and threatened to pose a significant challenge to established pharmaceutical companies.
Figure 11.2 Formation of collaborations in target identification and validation (1990–2000) Source: Reproduced from Hopkins M. M., Kraft K., Martin, P.A., Nightingale, P. and Mahdi S. (2007) Is the biotechnology revolution a myth? Comprehensive Medicinal Chemistry (2nd Ed) Volume 1. Taylor and Triggle (eds) Elseivier, p. 597.
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1.4 The rush to patent genes Accompanying the rise of dedicated genomics firms in the 1990s was a massive increase in the filing of gene and DNA sequence patents, which at times threatened to overwhelm patent offices (Marshall 1996). The majority of these patent claims were initially for the use of gene sequences as research tools (Hopkins et al. 2006), but as the development of genomics in both the public and private sectors expanded a range of commercially valuable applications were pursued including: 1 DNA sequences encoding for proteins with therapeutic application (e.g. tissue plasminogen activator); 2 DNA sequences encoding for proteins that could be targeted by monoclonal antibodies (e.g. HERr-2 and Herceptin); 3 DNA sequences encoding proteins that could be targeted by small molecule drugs (e.g. receptors such as COX-2 or NF-κB); 4 DNA sequences associated with diseases or drug metabolism where diagnostic/ prognostic tests could be developed (e.g. the Huntington protein); 5 Nucleotides that could inhibit gene expression (RNAi, antisense); 6 Sequences that could be replaced/inserted to correct or improve disease conditions (gene therapy). In the period from 1996 to 2001, when the first draft of the human genome was completed, the rate of patent applications increased very rapidly, with many firms entering a race to make claims on potentially valuable genes before the full sequence was placed in the public domain. Figure 11.3 shows the number of patent families containing at least one filing per territory related to inventions that sought to claim at least one human genetic sequence (as the same invention can be protected by a different number of patents in different regions, counting families rather than patents makes it a better indicator). US patent applications prior to 2001 were not published, but the European Patent Office (EPO) and Japan Patent Office (JPO) data illustrate the strong growth in activity during the 1990s ‘gold rush’ (interview evidence suggests that the US filing would probably have been even higher).
Figure 11.3 No. of families containing patent filings on DNA sequences by filing year Source: SPRU PATGEN Database 2005
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At the same time, established integrated biotechnology firms and younger genomics firms extending their focus from work on biological therapies (options 1 and 2 above) to include the development of small molecule drugs (option 3). This marked a shift to these small companies competing more directly with pharmaceutical companies (Rothman and Kraft 2006). A feature of the genome ‘gold rush’ was the filing of gene patents at the first opportunity, often before much was known about their function or potential application. A significant part of this activity was not driven by the pursuit of granted patents, but rather attempts to ensure ‘freedom to operate’2 by establishing priority dates and spoiling the chances of others being able to claim novelty (Hopkins et al. 2006). By the end of 2003 at least 15,603 patent families claiming human DNA sequences had been filed (Hopkins et al. 2007c). Details of the main companies involved in filing gene patents are given in Table 11.2 below, which shows the top 20 organisations granted patents claiming human genetic material (up to 2005) and as such reflects those successful rather than those competing to file claims. The counts show the year in which the patents were filed. It is perhaps a sign of the general enthusiasm for genomics that only three dedicated genomics firms (four counting the dual model of Applera, which includes Celera) appear in the top 20. Interestingly, the genomics firms came in relatively late as pharmaceutical and biotech companies were already active, but rapidly outpaced others in the field, irrespective of size. It is also interesting that the rate of patenting dramatically declines after 2000, a trend that will be discussed in more detail below.
2 The impact of genomics on the pharmaceutical industry 2.1 The pharmaceutical industry and the dynamics of drug discovery processes The modern pharmaceutical industry has evolved over two centuries through the exploitation of a small number of technical ‘heuristics’, such as extraction, purification and modification of naturally occurring molecules or the creation of synthetic analogues. Yet to do so companies have had to acquire and accumulate expertise in a range of technological competencies. Although some pharmaceutical firms had a tradition of developing large molecule protein-based therapeutics such as insulin, the pharmaceutical industry of the 1950s and 1960s experienced a ‘golden age’ of productivity driven primarily by random screening of synthetic compounds, often based on natural molecules characterised as ‘molecular roulette’ (Jolley 2000; Martin 1998; Nightingale and Mahdi 2006). As the productivity of this ‘small molecule’ approach declined, the 1970s saw a broad-based shift towards generating knowledge about the structural properties of drug-target interactions to guide screening (Nightingale 2000). It is important to note that this major shift towards a biology intensive (rational design) heuristic was established before the emergence of biotechnology in the late 1970s and early 1980s, and genomics in the 1990s. With drug discovery increasingly driven by research on drug targets, pharmaceutical companies could now direct their research towards the most lucrative markets and shift their research portfolios from infectious diseases towards highly profitable chronic diseases (e.g. cardiovascular disease and gastrointestinal disorders). The production of the knowledge needed to guide R&D has its own distinct technological dynamic, and research became increasingly industrialised over the 1980s and 1990s (Nightingale, 2000). By 151
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Table 11.2 Top 20 holders of DNA patents granted in the USA (shown by year of filing)
USPTO Granted
APPLICATION PERIOD All
INCYTE CORP (Genomics firm) USA AMGEN INC (Biotech firm) USA HUMAN GENOME SCIENCES (Genomics firm) USA MILLENNIUM PHARM INC (genomics firm) USA GLAXOSMITHKLINE (Pharmaceutical firm) UK ISIS PHARM INC (Biotech firm) USA ROCHE (Inc. GENENTECH) (Pharmaceutical/diagnostics firm) SWITZERLAND UNIV CALIFORNIA USA APPLERA CORP (Includes Celera) (instrumentation/ genomics) USA US DEPT HEALTH & HUMAN SERVICES (Inc. NIH) USA LUDWIG INST CANCER RES SWITZERLAND/UK WYETH (Pharmaceutical firm) USA NOVARTIS (Inc. CHIRON) (Pharmaceutical firm) SWITZERLAND NOVO NORDISK AS (Pharmaceutical firm) DENMARK UNIV JOHNS HOPKINS USA MERCK & CO INC (Pharmaceutical firm) USA PFIZER INC (Pharmaceutical firm) USA UNIV WASHINGTON USA SIRNA THERAPEUTICS INC (Biotech firm) USA SANOFI-AVENTIS (Pharmaceutical firm) FRANCE
1980–90
1991–5
1996–2000
2001–3
572
3
22
529
18
290 289
28 0
85 83
149 167
28 39
260
0
19
196
45
228
2
13
200
13
227
0
6
176
45
222
21
66
111
24
180 162
5 0
45 3
116 37
14 122
156
17
77
54
8
155
3
41
106
5
153
18
43
83
9
142
16
57
64
5
126
17
27
60
22
125 110
4 2
61 51
53 48
7 9
107
14
19
57
17
104 84
20 0
30 36
48 39
6 9
69
6
24
34
5
Source: SPRU PATGEN database 2005
1990 the product portfolios of large pharmaceutical firms typically included multiple blockbuster drugs (defined as generating sales in excess of $1bn). This allowed firms to invest heavily in the marketing and research needed to take advantage of potential economies of scale and scope. At the same time it became harder to overcome regulatory and commercial hurdles to produce successful drugs. With failures contributing to the cost of R&D, but not to revenues, firms have faced spiralling R&D costs – a trend that has now endured for several decades (Booth and Zemmel 2004; Service 2004; Drews and Ryser 1997; Food 152
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and Drug Administration 2004). The large companies that had come to dominate the industry had enjoyed three decades of consistent growth in earnings, often exceeding 10 per cent per annum. However, by the 1990s they were seen as having weak product pipelines that were insufficient to sustain the high growth rates that their investors had come to expect (Spalding 1992). 2.2 Overcoming the productivity crisis Large pharmaceutical companies have adopted a number of strategies to sustain earnings growth. These include progressively larger mergers (e.g. SmithKline and Beecham merged in 1989, while Glaxo and Wellcome merged in 1995, eventually forming Glaxo SmithKline in 2001) and workforce cuts of up to 10 per cent in recent years (e.g. AstraZeneca, Bristol Meyers Squibb and Pfizer) (Bowe 2007; Lewcock and Nagle 2007). At the same time R&D spending has continued to rise (e.g. GSK and AstraZeneca spend over 14 per cent of sales currently with the expectation of this reaching 18–20 per cent by 2010 (Jack 2006b)). In the 1990s pharmaceutical firms prepared their shareholders for an increase in outsourcing of research (SmithKline Beecham PLC 1992; Zeneca 1996) either through licensing-in drugs (especially protein therapeutics and monoclonal antibodies) discovered externally to supplement their own pipelines or to access new technologies to improve their internal efforts to discover small molecule drugs. In recent years, this trend has led to firms reporting that as much as 25–30 per cent of their R&D pipeline now comes from external efforts (Jack 2006a; Jack 2007). As a result of the growth in externally supported R&D, a new networked industrial structure has evolved, dominated by large firms. This facilitated the rapid growth in the number of small biotech and genomics firms seeking to discover new drugs since the 1980s (Hopkins et al. 2007b). Even before genomics had up-scaled, pharma were using gene cloning, gene sequencing and protein sequencing to produce recombinant protein receptors for crystallographic modelling and drug screening, and as research tools to enhance understanding of cellular processes. This provided improved insight into disease mechanisms (see Table 11.3). Competencies in key biotechnologies were developed in large companies across the industry through key staff appointments and the creation of in-house research groups, as well as external collaborations with academia and the recently created genomics sector. Although there was evidence of a slow build-up of capabilities in molecular genetics from the mid to late 1980s onwards, it was not until the early to mid 1990s that large pharmaceutical companies made significant investments in genomics – led by SmithKline Beecham and its alliance with Human Genome Sciences. The cost of building capabilities in genomics alone has been estimated at between $100m and $300m annually (Gassmann et al. 2004), suggesting that the sort of systems integration model being used by the largest firms is well beyond the means of small/medium-sized companies. For example, in the period 1993–2004, AstraZeneca and GSK and their antecedents formed at least 39 and 66 distinct alliances respectively in an effort to integrate genomic technology. Most of the technology came from the US, where the science base was moving into these areas more rapidly than in Europe. Despite the notion of globalised R&D, to access genomics, the major pharmaceutical firms in the EU went to the US to access these technologies. For example, Novartis developed a genomics site at La Jolla, Roche at Nutley (to allow close links to Millennium) and GSK’s was formed at Research Triangle Park in North Carolina. Often the technologies being sold by partner firms were 153
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Table 11.3 Pharmaceutical company investment in genomics: summary of applications, opportunities, challenges and trend
Application/ Timeline change
Opportunity
Challenges
1 Finding function
Late 1980s onwards
2 Finding targets
1993 onwards
3 Patient selection
1997 onwards
4 Candidate selection
1999 onwards
Better understanding 1 Separating cause and of diseases effect, signal from noise. 2 Identifying genetic and non-genetic influences 3 Regulatory change 4 Integration Novel targets for The physiological context potentially new of a new target is poorly classes of therapeutics understood – requires much time and investment Faster, more Finding and characterising effective trials reliable markers, regulatory approval Reduced risk of Identification of warning failure in trials signals from noise
Trend Increasingly a routinely used set of research tools
Reduced interest following over exuberant expectations Current key area of interest An emerging area
Source: interviews and press releases.
nascent. Early-mover pharmaceutical firms therefore played an important role for some leading genomics firms by helping them to build up and validate their technology platforms prior to them being licensed more widely. In the mid 1990s the identification and validation of targets became a major focus for both biotechnology and pharmaceutical firms, based on expectations of rapid and substantial change with a growth in available drug targets from several hundred to perhaps tens of thousands (see Table 11.3) (Hopkins et al. 2007a). With the advent of genomics, industry scientists were encouraged to take a higher risk approach by discovering and validating entirely new targets. The result was that projects based on novel targets, the physiological role of which was poorly understood, had very high rates of attrition (see below). From the late 1990s the genomic profiling and targeting of sub-populations in clinical trials (pharmacogenomics) was also widely expected to reduce the size of clinical trials, improve clinical efficacy and/or safety, and reduce the likelihood of failure in late stage development by focusing on genetic sub-populations more likely to respond favourably to drugs (Marshall 1997; McCarthy 2000). As a result, pharmacogenetics has been widely adopted with companies gathering genetic data routinely in clinical trials. However, at present there is little evidence of widespread benefits (Institute for Prospective Technological Studies 2006), although there are some examples, such as Pfizer’s Sellzentry, that illustrate the potential. The most recent emerging application of genomics, gene expression studies, were promoted as useful toxicological tools for improving drug candidate selection (Hackett and Lesko 2003). By removing unsuitable drugs early, either before or during the preclinical testing stage, it was hoped that new toxicological and metabolic screens would reduce expensive failures in the later clinical phases of development (Kola and Landis 2004). While the majority of large pharmaceutical firms have integrated these technologies into their R&D efforts, it is currently too early to assess their effectiveness (Booth and Zemmel 2004). 154
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2.3 Genomics has not solved the productivity crisis By the mid 2000s genomics was contributing to a greater or lesser extent at many points in the pharmaceutical innovation process. Some large pharmaceutical firms even suggested that many or even most of their projects were being influenced by genomics at some point in their pipeline journey. Perhaps genomics’ most clear contribution to date is the increased range of drug targets that firms are able to work on. However, this is not necessarily positive (Booth and Zemmel 2004; Horrobin 2003; Higgs 2004). In particular, failure rates of drugs based on novel targets are 50 per cent greater than for drugs against clinically validated targets (Ma and Zemmel 2002). This is largely because the biological role of new targets in disease pathology is poorly understood; for example the number of scientific papers associated with each target fell from 100 in 1990 to eight in 1999 (Booth and Zemmel 2004). Genomics technologies have also generated experimental models that are increasingly removed from the intended patients (i.e. from patients, to animals, to cell cultures) which some suggest explains their failure (Higgs 2004). Other analysts blame the cost of technological integration and the accompanying disruption to the observational approach (i.e. close links from research to the clinic and back) for decreased productivity and greater co-ordination problems across ever-larger pharmaceutical firms (Chu 2006). At the same time, investment in new approaches has not even impacted on the decline in the number of drugs pharmaceutical companies have had in trials over the last ten years (Hood and Perlmutter 2004). Due to commercial sensitivity it is difficult to comprehensively assess the actual impact of genomics in finding new targets for drugs, so while genomics may improve long-term productivity in large pharmaceutical companies there is little publicly available evidence to suggest that this has yet been achieved. Certainly, most drugs stemming from new genomic target searches would still be in clinical trials. However, the emergence of drug pipelines in 13 of the 22 leading genomics firms (all founded since 1991), suggests that genomics-based approaches have produced a substantial number of drug candidates (Rothman and Kraft 2006). Pharmaceutical companies too have clearly been working on drug targets identified using genomics. For example, GSK continues to develop a number of drug candidates that have resulted from research by HGS (Human Genome Sciences 2006).
3 The changing place of genomics 3.1 The declining value of gene patents As highlighted above, there was a significant fall-off in the rate of gene patenting following the sequencing of the human genome in 2001. There were a number of reasons for this that also precipitated a general decline in the commercial value of this intellectual property. First, the publication of the full sequence of the genome into the public domain made it difficult to discover novel sequences and made broad and rather nonspecific patent claims hard to sustain. Second, the sheer number of novel drug targets discovered by genomics inevitably reduced their value. Third, the publication of the draft human genome coincided with the new USPTO utility guidelines and trilateral talks between the USPTO, EPO and JPO that clarified the extent of the ‘bar’ in important areas, such as so called ‘reach-through’ claims which related to the value of research tools 155
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(especially genes or products of genes that can be used to discover drug targets or screen drug candidates) (Hopkins et al. 2007c). In particular, it was agreed that the description of a receptor molecule and disclosure of its function were sufficient to exclude commercial exploitation of the invention by monoclonal antibodies where claimed. In contrast, they agreed that small molecule drugs were not excluded unless the application specified these and described their interaction with the receptor in sufficient detail (European Patent Office et al. 2001). This further limited the commercial value of many DNA patent applications where such work was not undertaken, because a granted patent on a drug receptor would not have claims that reached through to fully exclude others from developing drug candidates against such a target molecule. As a result of a combination of these factors, after 2001 there was a lower propensity to file DNA patents, especially by universities and other public sector organisations. In particular, the strategy of patenting gene sequences as research tools waned because they were not perceived as being as commercially valuable as initially thought (Hopkins et al. 2006). Furthermore, while companies still sought gene patents, sequence claims themselves became less central to the invention, with for example, the protein or a molecule that binds to it being the main focus (Hopkins et al. 2006). Thus, as more was understood about the relevant metabolic or disease pathways, the value appeared to be moving downstream as research programmes advanced, shifting from a focus on genes, to proteins, and then to molecules that mediated protein function. Research by Hopkins and colleagues in 2005 has shown that almost two-thirds of the patent holders they interviewed had yet to exploit the majority of their DNA patent families (granted or pending) through development or commercialisation of products or services; although the majority expected this proportion to rise (Hopkins et al. 2006). In addition, a major reason for seeking gene patents had been to ensure freedom to operate, but this strategy was largely abandoned once the genome sequence was in the public domain and other methods of publication became available. Ultimately, many applications were not pursued as there was insufficient demonstration of utility/industrial applicability, a poor business case or the cost of generating new data to support the claim was prohibitive (Hopkins et al. 2006). This latter point is of great importance to small genomics firms, as patent offices now required more biological data to support claims of structural-functional relationships for those who followed a high throughput approach to identifying and filing sequences. In other words, companies had to invest considerable resources in basic research to ensure that their claims could be supported and their patent had value. Relatively few small firms have the ability to do this. It therefore appears that the practical and commercial value of sequence data and gene patents declined rapidly after 2001. Whilst gene patents continue to be filed and a few have proved to be very valuable, the filing of large numbers of relatively unsupported claims ceased to be a viable business model. This decrease in the value of the intellectual property that underpinned much of the nascent genomics sector also coincided with other changes that fundamentally shifted both the structure of the sector and the strategies that firms pursued. 3.2 The restructuring of the genomics industry The year 2000 marked the high-water mark for dedicated genomics firms and following the peak of the US stock market technology bubble, genomics company valuations collapsed. For example, the market capitalisation of HGS fell from a peak of over $13bn 156
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in 2000 to around $1bn in 2006. In the wake of this market crash it was much harder for dedicated genomics firms to raise money from either venture capitalists or public markets, and this increased their dependence on investment from large pharmaceutical companies. The changing financial situation coupled with the falling value of their core intellectual property and the start of a shift away from services (e.g. selling access to databases) or platform technologies precipitated a transition in many companies towards drug development. At the same time, the number of companies working on target identification and validation internationally continued to increase and reached over 150 firms by 2005 (author unpublished data). This movement downstream into the later stages of the drug innovation cycle was started by several first-generation genomics firms, such as HGS and Millennium, in the late 1990s and became widely adopted in the early 2000s. Rothman and Kraft have analysed the business strategies of the 22 leading genomics companies in 2004 (Rothman and Kraft 2006) and found that most members of this cohort had started out as platform technology companies in the mid 1990s, with only HGS and Millennium having drug development pipelines before 2000. However, between 2000 and 2003 a further 11 firms had initiated drug development programmes and had adopted a ‘dual’ business model combining this with services and the sale of technology platforms. In total these firms had 93 products in development by 2005 (Rothman and Kraft 2006). Despite this, a number of the leading genomics service providers remained focused on established business models for some considerable time, but ultimately had to change strategy in the face of falling revenues. For example, Incyte was one of the most successful first generation firms with significant revenues from selling access to databases during the 1990s and early 2000s, but was forced to move away from the provision of these services in 2004 and instead focus on drug discovery and development (Incyte Pharmaceuticals 2004). This demonstrated the extent of the pressure that companies faced to adopt isomorphic models and signalled their integration into the mainstream bio/pharmaceutical industry. In the move downstream a number of options were open to genomics companies and a diversity of business models were adopted (Rothman and Kraft 2006), including the development of biological therapies (HGS), small molecule drugs (Millennium) and diagnostics (Celera). However, the vast majority of genomics firms ended up working on small molecule drug discovery and development. This was in part due to the demands of the mainstream pharmaceutical industry for products with profiles that fitted their established portfolios, but also the ready availability of technology for the creation of small molecule drug candidates in the form of combinatorial chemistry and highthroughput screening. These technologies greatly reduced the cost for small firms setting up drug discovery programmes. The transition to drug discovery and development also dramatically changed the financial requirements for genomics firms, as this is a capital intensive process with little payback for 10–15 years. Companies became highly dependent on raising funds from public markets and large companies to sustain their efforts over many years and generally had limited revenues from other sources during this period. By 2004 only five of the 22 companies analysed by Rothman and Kraft had revenues greater that their R&D expenditure and just two were in excess of $100m (Rothman and Kraft 2006). It should also be noted that only HGS and Millennium were attempting to become fully integrated pharmaceutical companies and had the financial resources required to bring drugs to market on their own. 157
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As a consequence of these changes the genomics sector as a whole failed to realise the promise of independence offered at the end of the 1990s and instead became integrated into the pharmaceutical industry as part of an extended knowledge supply chain. In doing so it also institutionalised the continuing dominance of small molecule drugs over biologicals such as therapeutic proteins.
4 Conclusion: understanding the impact of genomics on the pharmaceutical and biotechnology sectors A number of important conclusions can be drawn from this analysis, relating to the expectations that have surrounded genomics, the nature of the pharmaceutical innovation process and the prospects for the bioeconomy. The first point to highlight is the failure to establish the genomics industry as an independent sector in its own right. Instead, we have demonstrated that, whilst this was a real prospect in 2000, a number of powerful factors have meant that genomics firms are now structurally integrated into, and almost wholly dependent on, the pharmaceutical industry. Fundamentally, this is due to the lack of sustainable commercial value in their core intellectual property on gene sequence data. As a consequence, it is clear that genomics has not precipitated a Schumpeterian wave of creative destruction or acted as a ‘disruptive technology’. The technological dominance of small molecule drug development over the creation of novel biologicals within the genomics industry further cements the hegemony of the pharmaceutical model. This is not to say that the genomics sector is now of little value, as its ongoing importance to the pharmaceutical industry is supported by the fact that the proportion of large company R&D spent on outsourced activities has continued to increase over the last decade. Although there is no hard evidence on this, it implies that drug discovery and early development is being more efficiently carried out in small firms than by inhouse R&D teams within large companies. Another important conclusion is that genomics has to date not led to a large number of new therapies reaching the market or even the late stages of clinical development. In retrospect this is perhaps unsurprising given the very long product lead times. However, there is a more profound issue at stake here, as it remains unclear if genomics has helped address the pharmaceutical productivity crisis. In fact, there is a powerful argument that far from solving the industry’s problems of sustainability, genomics has exacerbated them by requiring increased investment at a time of decreasing productivity. The hope is that this is only a transitional phase as new targets start to yield a large number of genuinely novel therapeutics over the next decade. These hopes are however troubled by another key issue we have discussed above. This is the lack of progress and high attrition rates in bringing genomic-based drugs successfully through to late-stage development. There are a number of possible reasons for this, most notably the lower quality of genomic drug targets, due in large part to the relative lack of biological knowledge about the role that these genes and their products play in both normal physiology and pathology. It therefore appears that to make new knowledge of gene sequences genuinely valuable, other forms of biological knowledge have to be acquired by industry. Historically, this has been produced mainly in the public research system over many decades of academic study on particular receptors, metabolic pathways and disease processes. This is not to say that large companies do not undertake 158
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fundamental research; they clearly do. Rather our point is to highlight the sometimes hidden role the public sector plays in drug innovation. The dominant model of pharmaceutical innovation regards the industry itself as the main source of new drugs. However, a number of important studies over the last 20 years have presented a more complex picture of the relationship between the industry and the public sector (National Institutes of Health 2000; Angell 2004). For example, Maxwell and Eckhardt (1990) examined 32 drugs introduced before 1990 and found that 60 per cent of these products would not have been discovered or their discovery would have been significantly delayed without the contribution of the public and charitable sector. Similarly, Cockburn and Henderson (1996) looked at 21 therapeutically important drugs introduced between 1965 and 1991 and found that publicly funded research was instrumental in the development of over three-quarters of them. More recently, an NIH study of the most commercially successful drugs concluded that NIH funded research played a ‘critical role’ in drug discovery in each of the cases examined. They went on to note that: Researchers at US universities and at NIH contributed by discovering basic phenomena and concepts, developing new techniques and assays, participated in clinical applications of the drugs. However, these cases also demonstrate that public and private sector biomedical research are interwoven, complementary parts of the highly successful US biomedical sciences endeavor. (National Institutes of Health 2000: 7) It is interesting to consider the contribution of small companies, such as those in the genomics sector, to this picture. While they have played an important role in the commercial development of new platform technologies, instrumentation and research tools, they do not have the resources to devote to the detailed characterisation of complex biological processes. So while they can play a critical role, they cannot substitute for the key function that the public sector plays in drug innovation. Genomics therefore recasts the way in which we might think about pharmaceutical innovation. First, it challenges entrenched assumptions about the primacy of industry in the discovery process and highlights the dependency of the private sector on public research. Second, it helps emphasise the incremental nature of drug innovation and the way in which the slow accumulation of biological knowledge is central to success. This suggests that it may be several decades before the full benefits from genomics start to be realised. This chapter has attempted to analyse the way in which genomics has been commercially developed and the impact this has had on the pharmaceutical industry, the drug innovation process and the production of new medicines. In assessing the contribution of genomics to the creation of the bioeconomy, it appears that while it has stimulated the creation of a new sub-sector of the established biopharmaceutical industry and has helped transform the process of drug development and discovery, it is unlikely to make any major changes in the near future to the structure of the pharmaceutical sector, the types of products created or the organisation of healthcare.
Acknowledgements This paper is based on work supported by ESRC grant no. L218 25 2087 The Impact of Genomics on Innovation in the Pharmaceutical Industry (2001–03). Project team: Paul Martin 159
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(PI), Paul Nightingale, Alison Kraft, Michael Hopkins, Surya Mahdi and Harry Rothman. It has benefited from support from the Engineering and Physical Sciences Research Council (Grant EP/E037208/1), Economic and Social Research Council (Grants L-128 25 2087 and PTA-037–27–0029) and the European Commission’s sixth framework programme. We are grateful to our anonymous interviewees for generously giving their time to the above studies.
Notes 1 The term ‘drug target’ refers to the biological receptor to which a potential drug might be developed for in order to activate a therapeutic response. 2 ‘Freedom to operate’ refers to the ability to undertake R&D and to launch products or services in a field rather than being forced out by, or having to license from, other organisations with intellectual property.
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12 State, markets and networks in bioeconomy knowledge value chains Philip Cooke
This paper seeks to juxtapose the roles of three key institutions – the state, markets, networks as factors in elaborating and enhancing knowledge value chains under knowledge economy conditions. The emphasis is upon the first two, but mention is made as necessary, to the important role of the state as financier of crucial processes regarding exploration knowledge through investments in research budgets and universities in particular. This is the subject of Section 2 following the Introduction. Section 3 then turns to the study of markets in structuring knowledge value chains in the bioeconomy, pointing to their asymmetric efficiencies and inefficiencies, which also have spatial dimensions. Finally attention is devoted to the enhanced role of networks and new network forms of thinking in relation to securing competitiveness in the bioeconomy knowledge value chain in the knowledge economy regime. A new regional mosaic of knowledge hubs with global reach has emerged but few occupy hitherto predominant ‘global cities’.
Introduction What is the knowledge economy? The general argument about the salience of the knowledge economy in sectoral, skills and spatial terms embraces the position of Castells (1996), widely known for the observation that productivity and competitiveness are, by and large, a function of knowledge generation and information processing, and that this has involved a type of economic metamorphosis entailing a different way of thinking about economies. Thus the balance between knowledge and resources has shifted so far towards the former that knowledge has become much the most important factor determining standards of living – more than land, capital or labour. Today’s most advanced economies are fundamentally knowledge-based (Dunning, 2000). Even neoclassicists like Paul Romer recognise that technology (and the knowledge on which it is based) has to be viewed as an equivalent third factor to capital and land in leading economies (Romer 1990). Inevitably this leads on to issues of the generation and exploitation of knowledge. The knowledge economy approach is perfectly capable of recognising there is already a yawning gap between rich and poor nations which is accelerating under ‘knowledge capitalism’ (Burton-Jones, 1999). There is also a growing gap within societies. The 163
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superiority here compared to more radical macro-perspectives extolling the power of scale, is that policy inferences are more accessible. Popular commentators like Charles Leadbeater have argued for the need to ‘innovate and include’ and that ‘spread’ effects of successful knowledge economies have be stimulated democratically: ‘We must breed an open, inquisitive, challenging and ambitious society’ (Leadbeater 1999). However in recent years the corporate sector has increasingly patented intellectual property rights (IPR) for broad innovations, for example in relation to genetic research, seeking superprofits from out-licensing such knowledge on the market. Thus what, if anything, distinguishes ‘knowledge markets’ from more normal ones? Going back to Arrow (1962), the main difference is that knowledge is not appropriable in the way that natural resources or even labour-time can be owned and not transgressed by others. Knowledge thus has the character to some extent of ‘public goods’. Public goods, in comparison with private goods, are those for which their consumption is repeatable. That is, their consumption by one person does not deny consumption of the same good by another person. Such consumption does not result in depletion of the goods or dissatisfaction by previous consumers. As Best (2001: 5) puts it: ‘The value of a cooking recipe to the original user does not diminish with its diffusion to new users.’ The concept of public goods is also important to markets in modern or ‘new growth theory.’ This is because new growth theory has productivity increases as endogenous to production. Unlike old growth theory that rested on an assumption of diminishing returns to scale, new growth theory assumes increasing returns to scale in features such as productivity. Productivity in turn may be ‘made’ in production processes by, for example, internal (endogenous) innovation or skills upgrading. Or it may be ‘bought’ as, for instance, knowledge such as R&D purchased from a university or in the market. The same supplier of research may simultaneously also produce external to the firm, other upgraded human capital. This may have more scientific, technological, managerial or creative content and value than its preceding cohorts. Knowledge may also be ‘imported’ as a public good, otherwise known as ‘localised knowledge spillovers’. These ideas about the importance of innovation and ‘talent’ to productivity are also central to new growth theory. They are also the ‘central dogma’ of the ‘Washington Consensus’ after Capra (2003) and Kay (2003). This argues for the policy connection whereby innovation positively affects productivity which in turn creates growth and ultimately competitiveness. This dogma underpins the economic policies of virtually all governments and multilateral agencies from the IMF to UNIDO. In general, therefore ‘knowledge’ of the kind under discussion increases the complexity of transactions in markets, raising, in particular, issues of intellectual property (IP) as represented in patents, trade marks, brand names, copyright and their licensing. A good example of such complexity is the case of the Royal Berkshire Polo Club which has had on its correspondence, since its inception in the nineteenth century, an image of a poloplayer on horseback raising on high his polo-stick. The Ralph Lauren Corporation utilises a slightly different polo-player logo on its apparel goods, especially shirts. Ralph Lauren, in early 2006 won an injunction against the continued use by the Royal Berkshire Polo Club of its logo on websites or merchandising copy. The Royal Berkshire argument that its logo preceded Lauren’s by more than a century and that, if anything, it had been adapted from the older image, was defeated in the UK law courts. Thus ancient precedent is overturned by the power and market value of symbols in the knowledge economy. In what follows, Section 2 refers to the important role of the state as financier of crucial processes regarding exploration knowledge through public 164
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investments. Section 3 then turns to the study of markets in structuring knowledge value chains in the knowledge economy, pointing out their asymmetric efficiencies and inefficiencies, which also have spatial dimensions. Finally attention is devoted to the enhanced role of networks and new network forms of thinking in relation to securing competitiveness in the knowledge value chain in the knowledge economy.
The state in the knowledge economy We may outline three historic phases during the industrial era with regard to the state’s involvement in knowledge production. The first is the period of competitive and consolidating capitalism up to approximately the end of the nineteenth century. For some economies this involved a laissez-faire model of state intervention generally and particularly with regard to knowledge production. Firms were lightly regulated, knowledge generation was private or under church control, and even universities in the most laissezfaire countries like the UK, were private and philanthropically provided if not beneficiaries of ancient royal prerogative. For more mercantilist economies where the state intervened for protectionist reasons, knowledge exploration was initially tacit and only towards the end of the era embedded in large corporations, classically as with Bayer, whose laboratory discoveries gave rise to the first, modern industrial knowledge generation centres, the forerunner of the industrial R&D lab. In the US, Cold Spring Harbor Laboratory, established more than a century ago, remains a private, non-profit basic research and educational institution. Nowadays, some 330 scientists conduct groundbreaking research in cancer, neurobiology, plant genetics and bioinformatics. Cold Spring Harbor Laboratory is one of eight National Cancer Institute-designated basic research centres in the US. In 1907, Theodore Vail combined the AT&T (formerly American Bell) and Western Electric engineering departments into a single organisation that, in 1925, would become Bell Telephone Laboratories. Bell Labs made several significant innovations such as the first commercially viable system for adding sound to motion pictures. Combined with studio and theatre equipment manufactured by Western Electric, this system moved Hollywood quickly from silence to sound. The first demonstration of television in the United States in April 1927 was another notable first for Bell Labs. It was not until the second phase of industrialisation and, especially, the industrialisation of warfare that direct state funding of research began. Some early forms of intervention prior to this included the Netherlands state suspension of current international patenting norms faced with that country’s perceived economic backwardness at the outset of the last century in respect of new electrical technologies. The Philips company was simply allowed to copy the Edison light bulb and other foreign innovations and to escape prosecution by dint of national re-regulation in this sphere (Zegveld 2005). But with the onset of global warfare and the arrival of and growth in demand for aeronautics, modern naval capabilities like submarines, and high-power ordinance, special institutes for researching and advancing designs of equipment were established by governments, sometimes taking over historically royal prerogatives – particularly concerning arsenals and even shipyards. Thereafter, up to and including the second world war, states took responsibility for advanced research in many countries. Mussolini established research institutes for aeronautics in Naples and Varese that remain Italy’s main research centres for aeronautics. Even in the US, where, for example, in 1946, representatives from nine 165
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major eastern universities – Columbia, Cornell, Harvard, Johns Hopkins, Massachusetts Institute of Technology, Princeton, University of Pennsylvania, University of Rochester, and Yale – formed a non-profit corporation to establish a new nuclear-science facility, Brookhaven National Laboratory, so strategic was it in terms of warfare that it was ‘nationalised’. On 21 March 1947, the US War Department transferred the site on Long Island to the US Atomic Energy Commission (AEC), which was the federal agency that oversaw the founding of Brookhaven National Laboratory and was a predecessor to the present US Department of Energy (DOE). The AEC also provided the initial funding for Brookhaven’s research into the peaceful uses of the atom. Today, Brookhaven Lab is one of ten national laboratories under DOE’s Office of Science, which provides the majority of the Laboratory’s research funding and direction. Founded in 1977 as the twelfth cabinet-level department, DOE oversees much of the science research in the US through its Office of Science (Chesbrough and Socolof 2000). The third phase of state involvement in public research has been the massive increase in research funding that occurs in US and some European universities. From being principally institutions responsible for the transmission of established scientific knowledge, universities have become major recipients of government and private (including foundation) research funding. The US has led this charge, although it has not especially had a programme to shut down national public laboratories. Nevertheless they have become far more involved in the examination knowledge aspect of research more generally, with responsibilities in relation to standards, testing, trialling and such like, whereas the cutting edge of much exploration knowledge is increasingly found in university laboratories. Inspection of Table 12.1 shows, for example, how dependent the US National Institutes of Health are upon a few leading US universities for knowledge exploration and examination in recent years.
Table 12.1 Top ten National Institutes of Health-funded research institutions, 2000–3
Rank (2000) 1 2 3 4 5 6 7 8 9 10
Institution
Funding 2000
Funding 2003
Johns Hopkins University University of Pennsylvania University of Washington U. of California, San Francisco Washington U., St Louis University of Michigan Harvard University UCLA Yale University Columbia University
$419.3 million
$555.9 million
1
$321.2 million
$434.5 million
3
$302.5 million
$440.9 million
2
$295.2 million
$420.7 million
4
$279.5 million
$383.2 million
5
$260.4 million
$362.1 million
6
$250.4 $243.5 $242.7 $226.6
$301.6 $347.0 $303.5 $291.3
million million million million
million million million million
Rank (2003)
11 8 10 13
Note: New entrants to top ten 2003: University of Pittsburgh $348.2 (7th); Duke University $345.8 million (9th). Source: National Institutes of Health.
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It is from this and other base funding supplied by the National Science Foundation and the Departments of Energy and Defence that much US healthcare research is funded. It thus stimulates entrepreneurship on the part of academic entrepreneurs who set up firms or license new knowledge they have discovered or invented to other firms, such as the large US pharmaceuticals firms that dominate the global drugs market. Much the same was true of the origins of ICT which, through detailed designs developed and funded by the US Department of Defence, was enabled to grow through contracts paid to Bell Labs Nobel laureate engineer William Shockley and the eight PhD students he took from New Jersey to Santa Clara county who set up firms like Intel, AMD and National Semiconductor that spawned Silicon Valley. Thereafter, localised knowledge spillovers and the involvement of Stanford University in providing the world’s first science park and appropriate engineering talent to nurture the industry through generations that involved Netscape, Silicon Graphics, Sun Microsystems, Oracle, Yahoo, Google and many others into the behemoths some became. In sum, this is how, in the US, public research budgets and contracts fuel the knowledge economy in key areas of societal concern from healthcare to security and defence. Simultaneously, many corporations that pioneered R&D in corporate laboratories have closed or otherwise attenuated them, for instance Bell Labs itself, Dupont, Procter & Gamble and General Electric now rely far more on sourcing knowledge from ‘open innovation’ (Chesbrough, 2003) than they did hitherto. Comparable processes have occurred in Europe. The aforementioned Philips of the Netherlands is now committed to an ‘open innovation’ strategy which includes close partnership with small university spinout businesses and university research institutes as in ‘DSP Valley’ (Figure 12.1). This shows how ‘ahead of the curve’ DSP research, particularly at Flanders’ Catholic University of Leuven allied to a platform policy of related variety clusters in e-security, mechatronics, telephony, life sciences and agro-food has made it an ICT-biotechnology ‘megacentre’ to which global firms like Philips and others are attracted. Moreover, the world-renowned engineering capabilities at Aachen Technical University allow an international megacentre to flourish based on clusters, academic entrepreneurship, and large firm outsourcing in electronics in general and DSP in particular. Elsewhere in Europe, firms like Ericsson, Siemens, Glaxo, AstraZeneca and Novartis already outsource and/or plan to outsource more knowledge acquisition to smart entrepreneurial firms and university research institutes within and beyond Europe, including Asian ‘tigers’ like Singapore and ‘giants’ like China and India. The struggle now is for Europe to generate swiftly sufficient ‘knowledge entrepreneurs’ to take a significant share of the burgeoning global market for knowledge capture, processing and transfer, something universities remain globally competitive at doing but for which the EU a ‘knowledge industry’ has not yet begun to challenge the US.
Markets in the knowledge economy One of the weaknesses of innovation systems theory is that it pays insufficient attention to markets, particularly financial markets in the study of the transformation of exploration knowledge through examination knowledge to exploitation knowledge in the knowledge value chain (KVC) of innovative industries or ‘platforms’ in which it is interested. This is something that should be corrected in ‘knowledge system’ studies. 167
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Figure 12.1 The Digital Signal Processing Knowledge network DSP Valley Source: Hinoul, 2005.
Admittedly, this can look like a tall order, given the relative absence of definitive analyses of the ways markets function in the knowledge economy, and in particular, how they are different from markets in the ‘Industrial Age’. Accordingly, much of what follows is newly written and little informed by a not very rich ‘knowledge markets’ literature. The first task is to elaborate the notion of capturing the externalisation and outsourcing of knowledge as discussed in relation to the role of the state in the knowledge economy. For purposes of compatibility, this must capture the elements of ‘the three exes’ of exploration, examination and exploitation knowledge. This is conducted illustratively for the healthcare and medical bioscience ‘platform’ in Figure 12.2. In Figure 12.2 we see that there is a mix of public and private economic activity even during the exploration knowledge stage. This involves the knowledge services including screening, sequencing, imaging, bioinformatics and biosoftware (ICT) applications required to enable exploration work to be conducted. Thereafter and, as with exploration stage work – interactively – there is demand for proof-of-concept, pre-clinical, trialling, testing and diagnostic services from the market mostly supplied by clinical research organisations (CROs) themselves firms, however dependent on public healthcare patient databases (let alone animal houses for mammalian testing) for the trialling of treatments. Firm 168
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Figure 12.2 The Knowledge Value Chain in the Healthcare and Medical Bioscience Value Chain
incubation, patent law and venture capital then becomes more involved alongside large pharmaceuticals and bioengineering and ‘biologics’ firms that synthesise the materials that realise the drug-based treatment or diagnostic platforms necessary for commercialisation at the exploitation stage. Here private transactions outweigh public until, ironically for this ‘platform’ final sales are made to the normally public or quasi-public healthcare system. Moreover, other public bodies, notably those focused on regulatory issues dealing with bioethics, clinical excellence and drug approval make even the commercialisation of knowledge in the form of innovations – remarkably and with notable complexity – a matter of public involvement in fundamentally private production but public consumer markets. In the knowledge economy, other industries and platforms are probably less complex than the healthcare sector, not least because healthcare is often a public oligopsonistic quasi-market or even, as in the UK, a public overwhelmingly monopsonistic one. For example, ICT is less science-driven (analytical knowledge) and more engineering-driven (synthetic knowledge) so the dependence on universities is less (Table 12.2). The dominance of non-ICT (except electronics) in the co-publication data between firms and universities in Table 12.2 is remarkable, as is the overwhelming predominance of pharmaceuticals co-publishing. Software, automotive and electrical industry-university copublications are almost non-existent by comparison. 169
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Table 12.2 High- and low-ranking UK university–industry co-publishing sectors, 1995–2000
High-ranking sectors
Annual average U–I co-publications
Low-ranking sectors U–I co-publications
Annual average
1 2 3 4 5 6
659 128 107 92 88 82
15 16 17 17 19 20
29 25 18 18 15 11
Pharmaceuticals Chemicals Utilities Biotechnology Electronics Food
Metals Materials Machinery Software Automotive Electrical
Source: Adapted from Calvert and Patel (2002).
Hence, most interactions occur in the private sector and often in the examination phase of the KVC. This is even truer in the automotive sector, where R&D is frequently purchased along with design expertise in the KVC rather than done in-house. Thereafter as with ICT much iteration occurs at the examination knowledge stage while exploitation or commercialisation is less and less even the main function of the assemblers and more and more in the hands of third party supply-chain management firms, and engineering consultancies. Hence ICT and automotives show a significant ‘outsourcing of logistics’ characteristic that is not evident yet in medical bioscience markets. Marketisation now runs very deep in synthetic knowledge markets where competition is very strong, global and with rising competitors coming up from hitherto small, low-volume producer markets like India and China. Reverse takeovers from the latter to the traditional producer markets can thus be anticipated, with weaker but still valuable ‘brands’ like the UK Rover Company, being among the earliest to be picked off. A distinctive feature of markets in the knowledge economy concerns financial markets. These have been transformed by deregulation, the rise of derivatives and the switch in value accounting from dominance by tangible values to dominance by intangibles. This switch now places values on ‘talent’ and ‘goodwill’ far more than it did and more than it used to upon tangibles like inventory and equipment. Dunning (2000) estimates this switch as one which favoured tangible assets in company accounts by 80:20 in the 1950s to a situation where it was 30:70 in the late 1990s and now can conservatively be estimated at an average of 20:80 in the 2000s – a complete reversal in 50 years. This causes tremendous asymmetries in boom times as the histories of AOL vis-à-vis Time Warner and more recently Google testify, where in the former case an extremely high stock-market valuation enabled a fast-growth internet SME to take over a sluggishly performing stock market corporation such as Time Warner. By 2003 the asymmetry was corrected and what suddenly became AOL Time Warner reverted to traditional Time Warner with AOL transformed into an on-line and e-mail subsidiary, its name scratched off the company’s brass plates. Yet in 2006, with the huge rise in broadband markets, internet trading and e-commerce more generally, AOL has yet to be and is unlikely to be sold off – unless Carl Icahn and other disaffected shareholders get their way. Equally Google, despite its Chinese misadventures is valued greater than General Electric and has engaged in expensive knowledge-based shopping sprees, like e-Bay buying what experts considered an over-priced internet telephony firm like Skype (Klein 2003). 170
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But more important in terms of commercialisation of financial knowledge is the rise of hedge funds who hedge against rises and declines in market values by the sophisticated use of futures and derivatives markets, spotting underperforming Industrial Age dinosaurs (like Time Warner) or swathes of the German, French and Italian economies that retain bloated administrative staffs and underperforming share prices. These ‘locusts’ as they are termed in Germany, are the vanguard for introducing a liberal market ethos into coordinated markets cushioned for decades by state subsidies and state protectionism policies. A second source of such intervention by new market actors is that of ‘private equity’ firms. These arise from the success in the US and the UK of venture capitalists who accumulated vast wealth from 1990s technology investments that they now prefer to invest safely in utilities and retailing rather than the risky science and engineering markets from which they originated. In terms of their effects upon less knowledge-based sectors in the knowledge economies of the advanced world, these are fairly indistinguishable from hedge funds. Both have the inefficiencies and poor shareholder return of firms in co-ordinated (and liberal) markets in their sights. Finally, stock markets themselves became more volatile in the knowledge economy, partly for the accounting difficulties that saw the managers of firms like Enron, WorldCom and Tyco in court (some in jail) alongside complicit accountancy companies like Arthur Andersen, and partly due to the hype and corrupt ‘talking-up’ of firm prospects by firms that had an interest through investing in such firms in their share value being taken up. Notice also how, for example, firms that boosted their asset value in the dot.com boom by valuing symbolic knowledge like ‘goodwill’ extremely high in the good times must, when the good times are over downgrade such valuations, the latest being UK firm Vodafone which in early 2006 reduced between £23 billion and £25 billion from the £81.5 billion of goodwill value on its balance sheet as it lowered its expectations and the sector’s growth prospects. Hence the huge stock market valuations that arose also for SMEs with promising and sometimes impossible market claims are reined back as market realities re-exert themselves. In the US Sarbanes–Oxley has, for the moment, put paid to the worst excesses of, particularly, US stock markets in this regard. But this was before the 2007–9 credit crunch.
Knowledge networks in the bioeconomy There are three main kinds of these focused upon the KVC in the knowledge economy. First are intellectual, research networks involving global knowledge creation, exchange and transfer arising from joint research, co-publication and patenting, second are research and co-publication activities between industry and research institutes or university centres of excellence, and third are knowledge alliances between firms, large and small. Increasingly, as knowledge outsourcing becomes the norm in some industries (90 per cent in oil and gas; 60 per cent in ICT; 52 per cent in pharmaceuticals) partnerships between large firms and smaller firms have risen above those ‘strategic alliances’ that were common for knowledge generation among multinationals in the 1980s and 1990s. This is mainly because large firms, generally speaking, had, as we have seen ‘lost the plot’ in R&D compared to the specialist firms closer to the heart of new technologies, products and processes. This means ‘knowledge entrepreneurship’ is a litmus test of an economy’s innovativeness. That is, economies, especially regional economies may be measured for growth in terms of their knowledge entrepreneurship asymmetries. Regions may show they have globally competitive ‘knowledge domains’ in research as have, for example, 171
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Wageningen–Nijmegen in the eastern Netherlands (fruit and vegetables) or Saskatchewan (rapeseed oil), Missouri (cotton, soya) and South Australia (wine and plant science) in agro-food each with between 25 per cent and 50 per cent of firms in its agro-food industry being research-led biotechnology businesses. Other regions like Connecticut, Southern California-San Diego, and Scotland are less powerful as agro-food knowledge domains because only 1–3 per cent of incumbents among each region’s > 90-member agro-food firms is in biotechnology. As a case in point, San Diego is a global leader knowledge domain for healthcare biotechnology since well over 60 per cent of its healthcare businesses are based upon biotechnology research, a statistic that applies even more strongly in Scotland (74 per cent) in the healthcare sector. Others in this position for healthcare include Massachusetts (Cambridge–Boston), northern California (San Francisco–Silicon Valley), eastern England (Cambridge), Medicon Valley (Copenhagen– Lund) and Stockholm–Uppsala. These all have at least 60 per cent of their healthcare firms involved in biotechnology research as well as having the presence of world class research institutes such as Whitehead in Cambridge, Massachusetts; Sanger in Cambridge (UK), Salk and Scripps in San Diego and Karolinska in Stockholm. In the first part of this section it is shown how these intellectual powerhouse regions and their institutions and ‘star’ scientists network together globally to advance research knowledge but also to create business opportunities for themselves and others as academic and non-academic ‘knowledge entrepreneurs’. Figure 12.3 shows original data on global bioscientific knowledge networks involving elite institute, ‘star’ scientist research co-publication for the period 1998–2004. Figure 12.3 concentrates on co-publication in leading US journals though similar data for European co-publication exists (Cooke 2009). Here we see dense international publishing networks. What does Figure 12.3 reveal? The following four aspects are of obvious theoretical and empirical interest. An international collaborative biosciences publication core of ‘star’ scientists and leading research institutes clearly exists. In the US it is centred upon Boston, Cambridge, MA, San Francisco, San Diego and New York City – the last-named being strong in research but less so in commercialisation. Second, there is a penumbra of various lesser research nodes centred upon Stockholm, Cambridge and Oxford (UK), Singapore, Paris, Toronto and Tokyo. These often have a few or one strong network partner in one of the US megacentres. The two Cambridges are relationally proximate, if not geographically as are Pasteur Institute in Paris and New York University or Karolinska Institute in Stockholm with Harvard Medical School. Beyond that for publication in top US journals is a ‘third circle’ of the lesser co-publishing locales including the likes of Hebrew University, Jerusalem, Uppsala University, University of Montreal, Oxford and London universities, and the National University of Singapore. Third, notice that among the ‘penumbras’ there are also co-publication links but far weaker than those through the network hierarchy to the US megacentres. Finally, notice by contrast the strong intra-nodality of linkages among co-publishers in geographical proximity, optimising localised ‘global capabilities’ especially in the aforementioned US megacentres but also elsewhere to a lesser extent, as in London, Cambridge, Oxford and Toronto. Moving on, Figure 12.4 shows the equivalent portrayal for co-patenting among a similar network of global research institutes and their high impact bioscientists. Three features are immediately apparent. First the network is tighter and even more focused regarding multiple interactions on patenting among the strongest centres in the copublishing hierarchy noted in Figure 12.3. Thus the east and west coast US megacentres predominate, often partnering single institutes in locations outside the US. Second, the 172
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Figure 12.3 Bioscience co-publishing 1998–2004 among star scientists in leading research institutes in high-impact US journals. Source: Cesagen scientometric survey. The methodology used here is innovative and one of the first to trace regional bioscience node linkages to track globalisation of bioscientific research publication networks. Three steps precede search for linkages. First, identify all relevant publishing institutions (including DBFs) in the hypothesised node (e.g. Cambridge UK Biotechnology Institute; Cambridge MA, Whitehead Institute; San Diego, Scripps Institute, etc) then identify leading institutes by presence of leading publishers from websites. Third, crosscheck and measure these by publication in top-ranked international (English-language ) bioscientific (e.g. Nature Biotechnology) journals (using SCI citation rankings). Journals consulted are shown in Appendix 1.
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Figure 12.4 Global co-patenting among biotechnology research institutes and biotechnology firms 1998–2004. Source: Cesagen US Patent Office Data Survey.
outlier co-patenting and co-publishing centres are even less interactive in co-patenting than in co-publishing even though these often represent so-called ‘global cities’ like Paris and Tokyo. Rather, lesser cities with globally leading edge ‘knowledge domains’ like Jerusalem and Geneva show up as at least as important as more celebrated locations. Finally, it is clear that new actors enter the networks since some are biotechnology firms, unlike the evidence in Figure 12.3, which is dominated by research institutes, medical schools and university centres of excellence. A coda to this, however, is that large pharmaceuticals firms are notable for their absence from this global co-patenting network. They step into the networks from the market once patent approval has been achieved, and then they license from either or both the research institute and its dedicated biotechnology firm partner. Finally, attention must be paid to the interactions of large firms as well as large and smaller firms. Clearly knowledge flows among these, especially as we move further from the exploration towards the exploitation phase of the KVC. We can draw some useful inferences regarding this in respect of the ICT industry. Tables 12.3 and 12.4 report data from a UK survey of ‘collective learning’ among ICT firms, defined as those engaged in software, and telecoms and computer hardware. Table 12.4 inquires of ICT firms (and 174
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Table 12.3 Scaling for proximity by UK genomics biotechnology firms
Proximity factor
ICT mean
University research Services Business environment Qualified workforce Regional agency/grants Other public research Collaborators/competitors Suppliers Private research Technology transfer Customers
3.09 3.69 3.50 3.69 2.49 1.96 2.89 3.44 2.11 1.67 3.91
Biotechnology mean (6) (3) (4) (2) (8) (10) (7) (5) (9) (11) (1)
3.25 3.15 3.05 3.05 3.05 2.90 2.80 2.70 2.60 2.55 2.40
(1) (2) (3) (3) (3) (6) (7) (8) (9) (10) (11)
Source: ESRC Cesagen and ICT Collective Learning Survey. Table 12.4 Economic geography of R&D collaborators of UK ICT firms (%)
Collaborator
(%)
UK
EU
North America
Asia
Rest of world
University Consultant Supplier Other R&D Customer Competitor
34 33 18 24 25 23
45 56 50 61 40 39
11 5 18 3 16 18
5 3 7 3 11 8
2 1 4 0 4 6
2 2 3 0 5 6
Source: ESRC ICT Collective Learning Survey.
biotechnology firms) what factors encourage them to locate in proximity to other firms in their sector or platform. There are important distinctions in the answers. These data show that universities are ranked medium as ‘proximity partners.’ Naturally ‘customers’ tend to be largest for larger ICT firms. Most strikingly, ‘customers’ ranked lowest in biotechnology, rank highest for ICT, and other public research, such as that conducted in non-university laboratories is ranked very low by ICT but of medium influence in terms of proximity drivers by biotechnology firms. Thus a picture is relatively easily and correctly formed of ICT and biotechnology as having polar opposite rationales for proximate interaction in research and innovation. Whereas biotechnology firms cluster around universities and, to a lesser extent, other public laboratories for research knowledge and related interactions, meanwhile interacting distantly with customers, many of which are pharmaceuticals transnationals, ICT firms prefer to cluster close to customer firms, keeping research at a distance. This is an original finding for both industries and tells us much about the nature of and differences between them. First, both collaborate intensively but ICT more nationally than either locally or globally as in the case of biotechnology. Second, ICT is more market than science focused in its proximity practices, a sign that innovation is more important and swifter than in biotechnology. Third, and of policy relevance, a region is well advised to have localised ICT multinational customers to help promote its nascent ICT cluster, while for biotechnology this is relatively unimportant and proximity to an accomplished medical or other biosciences research capability is of greater importance for clusterbuilding. 175
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Finally, we can to a considerable extent compare the economic geography of R&D collaborations by ICT and biotechnology firms. The nature of the data deployed makes comparison in a single table impossible but Table 12.4 summarises the position for UK ICT. Recall that the main lineaments of such collaborative economic geography for biotechnology were as follows. First, UK biotechnology’s favoured R&D collaborator was UK universit(ies), followed mostly by UK ‘other (public) R&D’, consultants and customers. Competitors and suppliers in the UK were as popular as the best scoring collaborator in the host region. This was the regional university, followed by regional consultancy, then supplier, public R&D while regional customers and competitors were negligible R&D collaborators. Indeed, customers anywhere globally were of more importance (Table 12.4). For ICT, the picture of R&D collaboration is significantly more national in orientation but also more regularly regional and much less global than for biotechnology, for most kinds of R&D collaborator as Table 12.4 shows. Here, it is clear that most UK ICT collaboration in R&D occurs nationally, with the host region some way behind, but much more engaged except for customer/collaboration interaction for most variables than the non-national level. A partial exception to this is that ‘suppliers’ are relatively important to R&D collaboration in both the EU and North America, as indeed are customers. Thus a picture forms of UK ICT firms much engaged in transatlantic supply chains bolstered by UK and regional R&D collaborations with a wide range of support actors, especially universities. Hence, while R&D is less a factor in proximate location for UK ICT firms, especially compared to the proximity force of innovation and market partners, UK and regional R&D is more important for R&D collaboration than that from abroad, including North America, which is a nexus of R&D collaboration of minor significance. Thus, in terms of the thesis advanced at the outset of this paper that clusters gather for different reasons but that both ICT and biotechnology clustering in the UK, driven as it is by different imperatives – research for biotechnology, innovation for ICT – both are intimately involved in interacting collaboratively with customer firms with whom they engage for purposes of conducting ‘open innovation’ and or ‘R&D outsourcing’ kinds of collaboration. Further, these firms value proximity in this regard: to repeat, with national and regional consultants, customers and universities for ICT firms and with national and regional universities, but more transatlantic customers and suppliers, for biotechnology firms. Hence, a further elaboration is a greater valuation by the latter of functional proximity than geographical for innovation through distant networks.
Conclusions Three things are clear from the foregoing analysis, each with great significance for the understanding of how knowledge exploration, examination and exploitation are organised and relate in the KVC and under the ‘knowledge economy’ regime. First, although the main focus of this paper is on markets and networks, the state remains a significant actor in the knowledge economy not least because it is a crucial actor in funding basic or fundamental exploration research (Table 12.5). The new role of the state as prime funder of exploration knowledge could be seen in the context of Leuven’s IMEC Centre at the Catholic University to be a magnet for advances in new technologies and skills development, not least in DSP. 176
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Table 12.5 2003 National Institutes of Health R&D expenditure in Massachusetts
Rank
Institution
NIH research
(Top 300)
$ million
12
Harvard University Medical School Massachusetts General Hospital Brigham and Women’s Hospital Boston University Dana-Farber Cancer Institute Beth Israel Research Institute Whitehead Institute U. of Massachusetts Medical School Massachusetts Institute of Technology Children’s Hospital Tufts University New England Medical Centre Boston Medical Centre Joslin Diabetes Centre New England Research Institute Massachusetts Eye–Ear Hospital University of Massachusetts, Amherst Boston Biomedical
18 22 34 51 52 57 60 63 76 88 120 133 148 166 200 210 228 Massachusetts total
248.6 232.1 192.4 132.3 96.3 94.8 91.1 87.6 77.8 62.8 49.9 27.7 27.2 20.9 14.7 11.9 11.3 8.5 1,494.2
Source: National Institutes of Health.
Second we found that markets are changing significantly under the knowledge economy regime. First, the knowledge value chain (KVC) takes on far greater importance as large firms reduce the amount of in-house knowledge exploration and examination they used to do. Table 12.6 shows the nature of this change in the US during 1981–2001 and reveals how much more research is done by smaller firms than used to be the case only a short while ago. According to UNCTAD (2005) much the same can be said for outsourcing by large firms in Europe. We also saw how some industry platforms like pharmaceuticals, biotechnology, chemicals and agro-food interact closely with universities in research from which they produce co-publications as an indicator of accessing university knowledge. But many mature sectors like metals, electrical engineering and automotives do not do this, preferring a Table 12.6 Percentage of US industrial R&D by size of enterprise
Company size
1981
1989
1999
2000
2001
<1,000 employees 1,000–4,999 5,000–9,999 10,000–24,999 25,000 +
4.4 6.1 5.8 13.1 70.7
9.2 7.6 5.5 10.0 67.7
22.5 13.6 9.0 13.6 41.3
22.1 15.2 8.3 14.0 39.5
24.7 13.6 8.9 13.0 39.0
Source: NSF (2003–5). Research & Development in Industry, 2001.
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declining in-house knowledge base or purchasing knowledge from specialist firms or consultants. Surprisingly, there is little industry–university co-publishing even in software but more in electronics. Finally we noticed how much financial markets are destabilised in the knowledge economy regime by ‘fictitious’ valuations of knowledge assets, especially symbolic ones like ‘goodwill’. Markets have generally found it harder to value firms by their knowledge assets and accountants have sometimes been complicit in approving distinctly unreliable balance sheets. Some have ended up in jail accordingly. Finally, we saw how network forms of knowledge exploration and examination now span the globe among megacentres of expertise linking ‘knowledge domains’ set in often unprepossessing and not always ‘global’ cities. Outsourcing of exploration and examination knowledge has become almost normal for firms in energy, ICT and pharmaceuticals industries, also in mundane consumer products industries where, for example, Procter & Gamble matched its central R&D function with an outsourcing strategy and renamed the department in question the Connect & Develop department in preference to the more traditional R&D departmental appellation. Networks are also pronounced in co-publishing and co-patenting on a global basis among network hubs, nodes or knowledge megacentres. Moreover industries differ in which others they seek proximity for collaborative interaction. Thus ICT firms prefer the proximity of customers and suppliers clustering at the heart of the KVC while biotechnology firms prefer proximate collaboration with university research at the head of the KVC. In general, we can conclude that the knowledge economy regime is highly asymmetric, destabilising and globally networked. The state is crucial in funding knowledge generation, while markets still reign supreme for knowledge exploitation. But spanning all three knowledge phases are networks that are the glue that holds together the transformation of knowledge into innovation in the contemporary globalised economy.
Appendix 1 Glossary AGY BaI BCR BI BPRC BRI BSI CAT CI CU DL DSI EBI ETH GEG GRMI GUFB 178
AGY Therapeutic Inc. (San Francisco) The Babraham Institute (Cambridge) Blood Ctr Pacific (San Francisco) The Burnham Institute (San Diego) Biomedical Proteomics Research Centre (Geneva) Biotechnology Research Institute (Montreal) Biosignal Inc. (Montreal) Cambridge Antibody Technology Cytokinetics, Inc. (San Francisco) University of Cambridge Danish Lithosphere Centre Data Searching Institute (Singapore) European Bioinformatics Institute (Cambridge) ETH Zurich Gene Expression Group (Cambridge) Groupe de Recherche sur les Maladies Infectieuses du Porc (Montreal) Geneva University Faculty of Medicine
S T AT E , MA R KE T S A N D N ET W O R K
HU HU IMRE IDUN JRH KH KI LL MI MIT MSH MSSM NUS NVI OHC PC PDNRC PI RFU RIT RL SC SGI SI SqI SIB SLRI SRI SU SUAS TI TML UC UC UCL UCSD UCSF UMA UO UR UT UL ULIC ULu UHo UM UNSW UU
Harvard University Hebrew University (Jerusalem) Institute of Materials Research and Engineering (Singapore) IDUN Pharmaceuticals, Inc. (San Diego) John Radcliffe Hospital (Oxford) Karolinska Hospital (Stockholm) Karolinska Institute (Stockholm) Loma Linda (San Diego) Microbia, Inc. (Cambridge, MA) Massachusetts Institute of Technology Mount Sinai Hospital (Toronto) Mount Sinai School of Medicine (NY) National University of Singapore National Veterinary Institute (Uppsala) Churchill Hospital, Oxford Haemophilia Centre Pharmacia Corporation (Stockholm) Parke Davis Neuroscience Research Centre (Cambridge) Pasteur Institute (Paris) Royal Free and University College Hospitals (London) Royal Institute Technology (Stockholm) Rudbeck Supercomputer Center (San Diego) Structural Genomix Inc. (San Diego) The Salk Institute for Bioscience Studies (San Diego) Sequenom Inc. (San Diego) Swiss Institute of Bioinformatics Samuel Lunenfeld Research Institute (Toronto) The Scripps Research Institute (San Diego) Stockholm University Swedish University of Agricultural Sciences (Uppsala) Tularik Inc. (San Francisco) Toronto Medical Laboratory Cornell University Copenhagen University University College, London University California, San Diego University California, San Francisco Macquarie University (Sydney) Oxford University Rockefeller University (New York) Toronto University University of London University of London, Imperial College University of Lund University Hospital (Uppsala) McGill University University of New South Wales Uppsala University 179
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UZ VAMC
University of Zurich Veterans’ Affairs Medical Center, San Diego
Appendix 2 Sources of data for Figures 12.3 and 12.4 Journals 1 2 3 4
Cell (2002–4): 1,275 articles were checked. Science (1998–2004): 1,030 articles were checked. Proceedings of the National Academic of Sciences (2002–4): 950 articles were checked. Genes and Development (2000–4): 346 articles were checked.
The total number of articles checked: 7,286.
References Arrow, K. (1962) ‘Economic welfare and the allocation of resources for invention’, in R. Nelson (ed.) The Rate and Direction of Inventive Activity: Economic and Social Factors. Princeton, NJ: Princeton University Press. Best, M. (2001) The New Competitive Advantage. Oxford: Oxford University Press. Burton-Jones, A. (1999) Knowledge Capitalism. Oxford: Oxford University Press. Calvert, J. and Patel, P. (2002) University–Industry Collaborations in the UK. Brighton: SPRU. Capra, F. (2003) The Hidden Connections. London: Flamingo. Castells, M. (1996) The Rise of the Network Society. Oxford: Blackwell. Chesbrough, H. (2003) Open Innovation. Boston, MA: Harvard Business School Press. Chesbrough, H. and Socolof, S. (2000) ‘Creating new ventures from Bell Labs’, Research Technology Management, 43: 13–17. Cooke, P. (2009) ‘Globalisation of biosciences: knowledge capabilities and economic geography’, Tijdschrift voor Economische en sociale Geografie (Journal of Economic and Social Geography), in press. Dunning, J. (ed.) (2000) Regions, Globalisation and the Knowledge-based Economy. Oxford: Oxford University Press. Hinoul, M. (2005) Knowledge Economy Europe, a Risky Jump. Leuven: KU Press. Kay, J. (2003) The Trouble with Markets. London: Allen Lane. Klein, A. (2003) Stealing Time: The Collapse of AOL Time Warner. London: Simon and Schuster. Leadbeater, C. (1999) Living on Thin Air. London: Viking. Romer, P. (1990) ‘Endogenous technical change’, Journal of Political Economy, 98: 338–54. UNCTAD (2005) World Investment Report 2005: Transnational Corporations & the Internationalisation of R&D. New York and Geneva: UNCTAD. Zegveld, W. (2005) ‘Critical factors in innovation’, ECORYS 75th Anniversary Conference, ‘Enhancing Competitiveness’, Rotterdam, January.
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Section Three Representations
13 Introduction Maureen McNeil
As the chapters in this section demonstrate, the term ‘representation’ is complex and awareness of its complexity has informed developments in genomics and helped to shape understandings of and expectations for this biotechnical field. Formal definitions of the term generally allude to its cognitive, symbolic and political dimensions (Freadman 2005). These all entail forms and versions of standing for and they sometimes designate speaking of and/or speaking for. The expansion and intensification of media communications at the end of the twentieth century underscored the need for theoretical and methodological tools for analysing diverse forms of representation (Hall 1997). In the 1980s and 1990s philosophical and social studies researchers began giving attention to processes of representation within the natural sciences. They probed the significance of representation within modern science generally (Hacking 1983) and offered detailed analyses of representational forms and practices within diverse scientific fields (Lynch and Woolgar 1990). Since the 1990s social studies of science and technology scholars have become particularly interested in visual representations, on grounds that, as Burri and Dumit contend: ‘images are inextricable from the daily practices of science, knowledge representation, and dissemination’ (Burri and Dumit 2008: 297). Burri and Dumit recommend further exploration of how visual imagery functions as a crucial part of the repertoire of ‘epistemic things’ (Rheinberger 1997) and boundary objects (Star and Griesemer 1989) which constitute and demarcate scientific knowledge. Moreover, representations have figured prominently within developments around public understanding of science from the 1990s onwards (Wynne 1995; Bucchi and Neresini 2008). As an umbrella term which designates both a cluster of political initiatives and a subfield of social studies of science research, public understanding of science has been preoccupied with questions about how science is represented to and perceived by the public. Hence, media analyses have been a mainstay of public understanding of science research and policies. Moreover, some critical science studies scholars have challenged the established agenda by raising questions about how publics are represented within the discourses of public understanding of science (Irwin and Wynne 1996; Haran et al. 2007: Ch. 6). In studying representational practices in and around genomics the contributors to this section relate to and draw on the various strands of science and technology research outlined above. However, while analysts of the natural sciences have become 183
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increasingly interested in representation, the concept itself has come under scrutiny, with important consequences for genomics and for those who seek to understand its economic, social, philosophical and political dimensions. While it is not possible to provide a full review of developments around the concept in this short introduction, two key elements of this interrogation will be briefly considered here: poststructuralist critiques of realist understandings of representation and the influence of the concept of powerknowledge. Poststructuralism has highlighted the instability and diffusion of knowledge production. In challenging realist claims about science as knowledge of the natural world reflecting that world, poststructuralism has destabilised understandings of representation as simply re-presentation – the presentation of something which pre-existed – thereby disturbing its connotations of mirroring. Instead, there has been much more emphasis placed on the performativity of all representations, disabusing simple notions of unmediated referencing. These aspects of poststructuralist theory have been employed and adapted in explorations of genomics (e.g. Haraway 1997: 23–44). For example, within such a poststructuralist framing, the representations of the Human Genome Programme undertaken by Tony Blair and Bill Clinton in press conferences in 2000 are treated not as phenomena which are to be assessed in relation to the real making of the HGP in scientific laboratories, but as integral to the making of that Programme. A further implication of this perspective is that those engaged in ELSI (ethical, legal and social research) on genomics are not regarded as outsiders observing the emergence of this field; rather, they are seen as implicated in its making. Indeed, the emergence of genomics has been co-terminus with an intensification of social science researchers’ awareness of their own roles in the making of the meanings of and expectations for technoscience. So, influenced by what they label the ‘dynamics of expectations literature’ (see Brown et al. 2000), Adam Hedgecoe and Paul Martin (2008) have analysed the orientation of social studies of science and technology researchers towards genomics. They distinguish between those who take a contextual approach and those who frame their analyses in terms of transformations in genetics. Moreover, the intensification of concerns about power-knowledge (initiated by, but carried beyond, the work of Michel Foucault; Foucault 1980) has added further dimensions to the connotations of the term representation with significance for genomics. Foucault’s hyphenated neologism – power-knowledge – underscored his insistence that there is no neutral version of knowledge and that knowledge is always embedded in the capillaries of power relations. This has had profound consequences for the concept of representation since it implies that the cognitive and political versions of the term cannot be neatly pried apart: it suggests that every representation is political in some sense or in some way. Foucault’s concept of power-knowledge resonated with developments in social studies of science which, since the 1980s, through the perspectives of ‘the Edinburgh School’ (Bloor 1976) and other influences, had increasingly turned its attention to scientific knowledge. The Foucauldian notion of power-knowledge has intensified awareness of the political dimensions of science and encouraged broader investigations of its politics (e.g. Latour 1993; Mol 1999). Sensitivity to power-knowledge seems appropriate for those studying genomics before and after the flurry of investment (in many senses) in genomics in the wake of the highly orchestrated millennial announcements about the ‘completion’ of the Human Genome Project. Nevertheless, as the following chapters indicate, deciphering genomics involves the study of a diverse and changing repertoire of representations, in many different locations. 184
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These sites might include, but are by no means limited to: laboratories, clinics, art galleries, museums, court hearings, ancestral websites, press conferences, newspaper and magazine articles, focus group meetings, biobanks, counselling centres. Vivid language and striking imagery has featured in the new genetics: ‘code of codes’, ‘book of life’, ‘Frankenfoods’, Dolly the Sheep (Franklin 2007), ‘designer babies’ (Franklin and Roberts 2007) together with images evoking human enhancement and longevity. Moreover, new imaging and data-generating technologies have been the engines of genomics. While this section of the Handbook does not pretend to cover this varied representational terrain comprehensively, each of the contributions brings fresh perspectives to some of its features. Moreover, the conceptualisation and language of representations has evolved in dialogue with this biotechnology as researchers register and analyse its significant actors and activities. These range from the novel exchanges between artists and genomic scientists as artists ‘experiment’ with new life forms and take up residences in laboratories, the emergence of ‘lay researchers’ within patient support groups and distinctive uses of the internet to generate and exchange genomic information. For example, science and technology researchers have observed the proliferation of social and political movements focused on and stakeholders invested in this biotechnology. They have also noted their distinctive formations, including the clustering of patient (and their supporters) groups in organisational coalitions (e.g. the Genetic Alliance in the USA and the Genetic Interest Group in the UK), which Epstein terms ‘supergroups’, that identify under the label of ‘genetic conditions’ (Heath et al. 2004; Epstein 2008: 505, 512). Against this background, analysts have sought appropriate and precise terminology in studying patterns of expectations, fears, dilemmas and contestations and of the distinctive identities which have featured in the politics of genomics and biotechnology since the last decades of the twentieth century. In fact, commentators have coined, wielded and debated a number of terms which highlight the forms of politics associated with recent developments in biotechnology, including ‘biopolitics’ (Foucault), ‘biosociality’ (Rabinow 1996) and ‘genetic citizenship’ (Heath et al. 2003). While they might take differing attitudes to the issues and patterns traced above, the authors of the chapters which follow in this section are all aware of the challenges around the deployment of the concept of representations within social studies of genomics. In diverse ways they have pursued and fleshed out its significance and resonances for developments in and around genomics, mindful of the need for a ‘critical hermeneutics’ (Haraway 1997: 16) of the new genetics.
References Bloor, D. (1976) Knowledge and Social Imagery. London: Routledge and Kegan Paul. Brown, N., Rappert, B. and Webster, A. (2000) Contested Futures: A Sociology of Prospective Techno-science. Aldershot: Ashgate. Bucchi, M. and Neresini, F. (2008) ‘Science and public participation’, in E. Hackett, O. Amersterdamska, M. Lynch and J. Wajcman (eds) The Handbook of Science and Technology Studies (third edition). Cambridge, MA, and London: MIT Press, pp. 449–72. Burri, R.V. and Dumit, J. (2008) ‘Social studies of scientific imaging and visualization’, in E. Hackett, O. Amersterdamska, M. Lynch and J. Wajcman (eds) The Handbook of Science and Technology Studies (third edition). Cambridge, MA, and London: MIT Press, pp. 297–317.
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Epstein, Steven (2008) ‘Patient groups and health movements’, in E. Hackett, O. Amersterdamska, M. Lynch and J. Wajcman (eds) The Handbook of Science and Technology Studies (third edition). Cambridge, MA, and London: MIT Press, pp. 499–539. Foucault, M. (1979) The History of Sexuality: Volume I: An Introduction, (La volonté de savoir), trans. R. Hurley. London: Allen Lane. —— (1980) Power/Knowledge: Selected Interviews and Other Writings, 1972–1977, ed. C. Gordon (first American edition). New York: Pantheon. Franklin, S. (2007) Dolly Mixtures: The Remaking of Genealogy. Durham, NC: Duke University Press. Franklin, S. and Roberts, C. (2007) Born and Made: An Ethnography of Preimplantation Diagnosis. Princeton, NJ: Princeton University Press. Freadman, A. (2005) ‘Representation’, in T. Bennett, L. Grossberg, and M. Morris (eds) New Keywords: A Revised Vocabulary of Culture and Society. Oxford: Blackwell, pp. 306–9. Hacking, I. (1983) Representing and Intervening: Introductory Topics in the Philosophy of Natural Science. Cambridge: Cambridge University Press. Hall, S. (ed.) (1997) Cultural Representations and Signifying Practice. Milton Keynes: Open University Press. Haran, J., Kitzinger, J., McNeil, M. and O’Riordan, K. (2007) Human Cloning in the Media: From Science Fiction to science Practice. London: Routledge. Haraway, D. (1997) Modest Witness@Second_Millenium.FemaleMan©_Meets_OncoMouseTM: Feminism and Technoscience. London and New York: Routledge. Heath, D., Rapp, R. and Taussig, K. (2004) ‘Genetic citizenship’, in D. Nugent and J. Vincent (eds) Companion to the Anthropology of Politics. Oxford: Blackwell. Hedgecoe, A. and Martin, P. (2008) ‘Genomics, STS, and the making of sociotechnical futures’, in E. Hackett, O. Amersterdamska, M. Lynch, and J. Wajcman (eds) The Handbook of Science and Technology Studies (third edition). Cambridge, MA, and London: MIT Press. Irwin, A. and Wynne, B. (eds) (1996) Misunderstanding Science? The Public Construction of Science and Technology, Cambridge: Cambridge University Press. Latour, B. (1993) We Have Never Been Modern, trans. C. Porter. Hemel Hempstead: Harvester. Lynch, M. and Woolgar, S. (eds) (1990) Representation in Scientific Practice. Cambridge, MA: MIT Press. Mol, A. (1999) ‘Ontological politics: a word and some questions’, in J. Law and J. Hassard (eds) Actor Network Theory and After. Oxford: Blackwell. Rabinow, P. (1996) ‘Artificiality and enlightenment: from socio-biology to biosociality’, in his Essays on the Anthropology of Reason. Princeton, NJ: Princeton University Press, pp. 91–111. Rheinberger, H. (1997) Toward a History of Epistemic Things: Synthesizing Proteins in the Test Tube. Stanford, CA: Stanford University Press. Star, S.L. and Griesemer, J.R. (1989) ‘Institutional ecology, “translations”, and boundary objects: amateurs and professionals in Berkeley’s museum of vertebrate zoology, 1907–39’, Social Studies of Science, 19, 3: 387–420. Wynne, B. (1995) ‘Public understanding of science’, in S. Jasanoff, G.E. Markle, J.C. Petersen and T. Pinch (eds) Handbook of Science and Technology Studies (second edition). London: Sage.
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14 Stakeholder representations in genomics Edna Einsiedel
We are living in the century of the gene.1 This is a period of considerable change in the world of genetic science and of efforts to refigure life (Keller 1995). As the new genetics transforms traditional sectors, from food, crops and livestock to industrial and medical products and their associated practices, frequently posed questions about risks and responsibilities, the boundaries between nature and culture, knowledge production and ownership are also being reframed. Underlying the various discussions and debates associated with these developments in genomics are questions about what is at stake, who defines the stakes and how these stakes are represented. This chapter explores several terrains in the landscape of stakeholder research in genomics and biotechnology. It will critically examine the concept of ‘stakeholder’ and notions of representation. Two streams of representational activities will be discussed: speaking of through representations as portrayals and speaking for through various activities around delegation or voice.
Who are stakeholders? The term ‘stakeholder’ has a rich and varied history and stakeholder analysis has become an important tool for theorists from a broad range of disciplines. The concept of stakeholder has been analysed and applied in such diverse fields as management (Freeman 1984; Mitchell et al. 1997), studies of the environment and resource management (Grimble and Wellard 1997), policy (Sabatier and Jenkins-Smith 1993), international development (Smillie et al. 2002) and health (Brugha and Varvasovsky 2000). Freeman (1984) is credited with a widely used definition, which describes a stakeholder as ‘any group or individual who can affect or is affected by the achievement of the organisation’s objectives’. The World Health Organisation similarly describes a stakeholder as: ‘any party to a transaction which has particular interests in its outcome’ or who ‘stands to win or lose by a line of policy’ (World Health Organisation 2000). These descriptions underline two attributes of stakeholding: the notion of interests and the idea of impacts. It is a concept that has both instrumental and normative dimensions. These dimensions are present in questions around what stakeholders do and what their impacts are on a 187
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technology’s trajectory, as well as questions around who counts and why, or what criteria in decision-making ought to count. Conceptualisations from the social studies of science and technology, within the perspectives of the social construction of technology (SCOT) and actor-network theory (ANT) offer ways of framing stakeholders in the context of technology development. Rather than asking about what impacts a technology might have, the question that is raised through these approaches is: how does a technology come to be? Social constructionists refer to ‘relevant social groups’ that influence the direction of technological developments by offering alternative modes of solving a problem, or proposing a particular technological design inspired by different criteria for development (Bijker and Law 1992; Pinch and Bijker 1984). These relevant groups offer competing ‘technological frames’, one of which eventually succeeds in becoming the dominant form in society. The notion of ‘actor-networks’ provides a broader frame of reference by including human and non-human actants with aligned interests (Latour 1987: 2005). Actor-network theorists have argued that scientific knowledge does not just represent nature and that science is inherently political, that is, that it represents diffuse webs of social interests involved in the construction of facts and of the meanings of artefacts (Latour 1993; Callon 1986). These facts and artefacts become authoritative when they have succeeded in mobilising a robust network of interested parties. Beyond the scientific communities are other actornetworks which have interests in the nature and conduct of science and its outcomes. There is also some useful overlap between the concept of stakeholder and ‘social movements’, although the latter term is broader and more inclusive. In his investigation of the different ways the concept of ‘social movements’ has been deployed, Crossley (2002) has identified the following features of social movements: they are typically collective ventures, they often arise from conditions of unrest, they provide opportunities for collective creativity to generate new ideas, ideals and identities for society, and they engage in sustained interaction with their opponents or with other institutions (pp. 2–5). These features can also be shared by stakeholder groups, but their existence can be brief, evolving as an issue arises and disappearing as the issue is resolved. Some stakeholder groups may not necessarily arise from conditions of protest or grievance; their stakes may, in fact, be retention of the status quo or elaboration of an already privileged point of view. Underlying the notion of stakeholders and their claims and interests is the existence or creation of competition, controversy and conflict, without which stakeholder work cannot be fully understood (Frooman 1999). Ideas of competing technological frames, enrolment and mobilisation of others to become like-minded, notions of grievance and protest, or alternative visions of what ‘the good life’ might mean, reflect this arena of conflict and competition. The new genetics has incorporated a wide range of interests around production of knowledges so it is not surprising that a diverse array of stakeholder interests has developed within and around this field. This development includes extensions of issues already established in the public arena, from animal rights and welfare to patients’ rights and prerogatives and environmental concerns, each of which has associated established stakeholder organisations. These organisations have extended their arenas of concern and activities to include genomics and biotechnology. Other sets of issues have grown out of the particularities of gene technologies, where questions of ownership revolve around ownership of life forms and where the boundaries of nature and culture have become sufficiently blurred. New stakeholder organisations have accordingly emerged with activities and spheres of operations that are focused on issues raised by the new genetic technologies. 188
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Thinking through representations If stakeholders are those with interests in a given issue or with a stake in a particular outcome, such interests are expressed through acts of representation. It is interesting to look at the range of dictionary meanings of representation. These include portrayals or depictions – through images or symbols, through a production or performance, or the forwarding of an account or set of arguments. Representation is also described as delegation – serving as official agent or spokesperson, or describing the right or privilege of being represented. In essence, the term representation always carries a double meaning – being identified with a depiction (a picture of) and with the activity of a proxy (an act of speaking for). Theorists have presented different conceptions of representation. As a depiction, social representations have been described as structured mental content in the form of images, metaphors and other rhetorical devices created in everyday discourse (Moscovici 1984, 1988). They can also be identified in other spheres, such as the media (both traditional and newer forms, including web spaces) or in policy fora. Two processes characterise the development and use of social representations. The first is a process of anchoring the unfamiliar to a familiar reference point; while the second, objectification, entails converting the abstract into something concrete, intelligible and communicable (Moscovici 1984, 1988). Both processes involve discursive and symbolic activities that can help to engage and enrol groups and individuals into particular versions of technology linked to a vision of a particular way of life. The second dimension of representations pertains to the activity of a proxy. Stakeholder activities can involve making representations on behalf of others or giving voice to the interests of others. There are nuances around what representation means in this context that are beyond the scope of this paper (see Parkinson 2004). Suffice it to say that representation claims are always tied to questions of political legitimacy, which include whose interests are being represented and how claims are justified publicly. It is impossible to divorce representations from culture. In much the same way that representations are cultural depictions, they can also influence culture. Thus, they embody a dynamic of change. Hall (1997) has maintained, for instance, that objects and people do not have a constant meaning, but that their meanings are shaped and reshaped by humans in the context of their culture. This view of representation focuses on understanding how language and systems of knowledge production work to create and circulate meanings. Thus, the process in which such meanings are constructed is critical (Hall 1997). Rather than viewing representations as mere objects representing ideas, this perspective emphasises the relationships and processes through which representations are produced, valued, viewed and exchanged (see Mitchell 1994). In the preceding introductory sections of this chapter, we have considered the key concepts of stakeholder and representation. For the remainder of the essay, we turn our attention to key questions that pertain to stakeholders, representations and genomics. These include the following: what representational activities have been undertaken by stakeholder groups around genomics? What characterises these activities and what impacts have they had in the governance of genomics?
Genomics as sites for representation There have been many technological arenas for the study of representations. What makes genomics interesting as a site for exploring representations is that genomics represents the 189
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shift in the sciences to molecular bases and understandings of life. Nikolas Rose has framed biopolitics as now addressing ‘human existence at the molecular level: it is waged about molecules, amongst molecules, and when the molecules themselves are at stake’ (Rose 2007: 3). From the advent of recombinant DNA technologies to the subsequent interest in mapping the human genome (and the genomes of other organisms), ‘a radical change of perspective has ensued. The momentum of gene technology is based on the prospect of an intercellular representation of extracellular projects – the potential of rewriting life’ (Rheinberger 2000: 120). Changing perspectives about nature and culture are also evident where ‘the new genetics can be seen to revive as much as diminish the nature–culture opposition’ (Franklin 2003: 82). The reductionist view evident in the molecular lens can also be seen in the shifting microcosms, from genes to proteins to SNPs. The biological objects of interest arising from genomics are rather diverse and include transgenic forms, clones, chimeras and cybrids,2 or products of tissue-engineering. Such boundary-transcending objects provide opportunities for new social relationships or regulating instruments to emerge. Along with this shift in the boundary object of interest are the accompanying changes in questions around identity so intimately tied up with the science, giving rise to a range of identity formations called ‘biosociality’ (Rabinow 1996). Finally, genomics and biotechnology have provided one arena for rich explorations of competing representations about intellectual property ownership ever since patents were first granted to life forms in 1970. The era ushered in by the gene revolution was further marked by the basic tools and technologies being acquired and patented by the private sector – in contrast to the earlier stage of agricultural development (Louwaars et al. 2006). Competing representational claims in this area have provided substantial resources for investigation and activity by stakeholder groups.
Articulating visions, values and goals The important role played by ‘guiding visions’ or ‘expectations’ in understanding technological trajectories has been emphasised in innovation studies (Berkhout et al. 2004) and in the sociology of technology (Brown et al. 2000). Such codified representations of technological expectations are key in framing social-technological problems, as well as in inspiring actors to solve them (Brown et al. 2000; Hedgecoe and Martin 2008). Even in those instances when end-points are highly contested or only partially understood, ideas about what might be (or ought to be) are motivators for imagining possibilities and pursuing change. Much has been written about the Human Genome Project, its associated representations and the possibilities for imagining, mobilising and acting resulting from this project (see, for example, Keller 1992; Lippman 1992; Fogle 1995). The many narratives around the HGP and their subsequent elaborations have revolved around representational work – following representations by genetic scientists, representations about the gene and its meanings, and blending images from theology, cartography and information science. ‘Mapping the human genome’ had an associated language, including sequencing DNA, identifying loci and markers, charting the order of base pairs, ultimately providing a cartographic guide to the genetic terrain of the body. This cartographic representation has been carried through to subsequent stages of the human genome project including the HapMap Project, which is the shorthand designation for haplotype mapping. Hapmaps 190
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characterise variations in DNA sequences called SNPs or single nucleotide polymorphisms. These variations occur together, an idea which Francis Collins has characterised in geographic terms thus: Genetic variation is organized on chromosomes in ‘neighborhoods’. Within the neighborhood, all of the variation is tightly correlated. We learned that if we know the boundaries of those neighborhoods, then we could merely pick out two or three SNPs to represent the whole. In other words, a smaller set of SNPs could basically serve as proxies for the entire neighborhood. (Personalised Medicine Coalition 2007) The idea of a book, which has been a key genomics representation, also invokes notions of letters with different combinations spelling words to be connected and deciphered and which, in turn, can be understood as narratives. Reading ‘the book of life’, a widely circulated representation of genome mapping, is the ultimate story with a beginning and an end, represented as relating and fully understanding the essence of biological identity. Postulating such cartographic or theological visions includes simplified steps for their achievement (decode the letter and the book will be read), while at the same time injecting the process with divine inspiration (Doyle 1994). Calls to fund such enterprises, made repeatedly at various stages, become part of the package of expectations (Collins and Galas 1993; Collins et al. 1998; Collins and McKusick 2001). The announcement of the successful mapping of the human genome was subsequently followed by the articulation of a new set of goals that included targeted steps for translating the science to the clinic, identifying relevant partners (including the call to ethical–legal–social experts) and funding exhortations (Collins et al. 2003). Subfields of genomics which have emerged subsequently, such as structural genomics and pharmacogenomics, have similarly traded on promises and expectations (Hedgecoe 2003), as has the development of new genomics institutions. For example, the growth of bio-banks in a number of countries has proceeded via visions and expectations of economic development (Kattel and Anton 2004), national identity (Busby and Martin 2006) and population health as a global public good (Knoppers and Joly 2007). Visions of future technological innovations fulfil a number of important functions: they map possibilities, provide a heuristic for defining problems, establish targets against which progress can be monitored, they identify relevant actors (through inclusionary and exclusionary strategies), and they provide story-lines for attracting support and resources (Smith et al. 2005).
Frames, names and claims Frames are crucial elements in stakeholder activity. The concept of frame has been defined as ‘an interpretive schemata that signifies and condenses ‘the world out there’ by selectively punctuating and encoding objects, situations, events, experiences and sequences of action in one’s present or past environment’ (Snow and Benford 1992: 137). The term frame is borrowed from Goffman (1974: 21) to denote schemata of interpretation that enable individuals to ‘locate, perceive, identify and label’ occurrences within their lifespace and the world at large. Frames are a form of representation and they incorporate signifiers or other manifestations of this process. They are essential for 191
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the mobilisation of consensus prior to engagement in collective action; they are also an important pillar for sustaining collective action. In essence, frames entail a diagnosis of a problem, provide a prognosis and mobilise social action (Stoney and Winstanley 2001). Naming is a first step in representation. Genomics has been fertile ground for metaphoric flights of fancy, from the designation of the mapping of the human genome as the ‘holy grail’ of science, to the depiction of it as ‘reading the book of life’. The appropriation of the Frankenstein image from Mary Shelley’s vision of science out of control has also had an extensive cycle of use. The label has had several progeny including ‘frankenfood’ (and other incarnations, such as ‘frankenfish’). The inclusion of ‘Frankenfood’ in the Merriam-Webster Dictionary’s eleventh edition signals its acceptance as a discursive symbol. The use of Frankenstein imagery has had a long history (see Turney 1998), so its deployment by stakeholder groups in the GM food debate is not surprising. A study of its use on the internet by groups involved with this issue showed its utility for incorporating concerns about food and health and science gone astray (Hellsten 2003). While proponents dismiss the use of such a label as nothing more than Luddism, the term itself encapsulates fears of bodily intrusion (both in the case of medical and food biotechnology) and raises questions about the limits to be placed on the challenges of modernity (Turney 1998). Naming as a rhetorical tool can be even more effective when it can evoke a visual image. Visual discourse acts – image events which secure television or internet attention – are established staples of framing strategies. They have been Greenpeace’s primary rhetorical activity (DeLuca 1999). These image events often play an important role in problem definitions and mobilisation. As one Greenpeace member suggested, the importance of image events is ‘not whether they immediately stop the evil; they seldom do. Success comes with reducing a complex set of issues to symbols that break people’s comfortable equilibrium, get them asking whether there are better ways to do things’ (DeLuca 1999: 3). Other aspects of framing are problem definitions and claims-making. Terminator technology was the name attached to a technology which allowed the controlled expression of traits such as seed viability in plants. The naming of such a technology was carried out by RAFI (the Rural Advancement Foundation International), subsequently renamed ETC (Erosion, Technology and Conservation), an international NGO dedicated to sustainable technologies.3 When word got out about the first patent in 1998, RAFI and its allies launched a highly visible campaign against the technology (Service 1998), waged around the claim that the technology would prevent subsistence farmers from saving seeds and that pollen from the plants might sterilise neighbouring fields as well. The competing representation from industry regarding the traditional frame of farming based on seed-saving and sharing practices was that the centuries-old practice of farmer-saved seed is ‘a gross disadvantage to Third World farmers who inadvertently become locked into obsolete varieties because of their taking the “easy road” and not planting newer, more productive varieties’ (quoted in Steinbrucher and Mooney 1998: 177). The success of such a framing strategy for ETC was demonstrated through its enrolment of international allies, including the world’s largest nonprofit agricultural research group and the most influential agricultural research body in the South, the Consultative Group for International Agricultural Research (CGIAR). The Indian government also banned terminator technology (Edwards 1998), as did the government of Brazil. The United Nations Food and Agriculture Organisation’s (FAO) Panel of Eminent Experts 192
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on Ethics in Food and Agriculture also labelled terminator seeds as ‘unethical’ (FAO 2000). Slowing down development of this technology was further assisted by the Convention on Biological Diversity, enacted by the United Nations in 1992 as a legally binding framework agreement for the conservation and sustainable use of biological diversity. The CBD included a moratorium on terminator technology (Decision V/5, III).4 In the face of heated protests, Monsanto (now part of Pharmacia) similarly declared a moratorium on using the technology in 1999 (Verfaillie 2000), a position it rescinded in 2007. Nevertheless, the International Treaty on Plant Genetic Resources for Food and Agriculture, which gave farmers the right to save seed in those countries that signed on, went into effect in 2004 and remains in effect today (FAO 2004). This victory would not have been possible without the continuous vigilance and monitoring of the issue by a broad coalition of stakeholder organisations, embodied through the internet-based Ban Terminator campaign (www.banterminator.org). This campaign has over 600 organisations listed as supporters, including food and agriculture groups, environmental groups, women’s issues and indigenous groups, and church organisations. These groups are clearly finding common cause around issues that represent larger goals of social justice, human rights and food security, issues with which the defined problem of terminator genes found resonance. Framing terminator technology as a problem involved its representation as an assault on traditional knowledge, on small farmers and their cultural tradition of seed-saving, and its failure as a tool for protecting the environment. This last claim was in response to the alternative representation promoted by some governments and companies that this technology would prevent modified crops from spreading because of induced sterility (Service 1998).
Representations as giving voice Latour (1987) has highlighted another dimension of representations, focusing not just on displays of likeness but on acts of speaking on behalf of another. Giving voice often involves (re)constituting identities, claiming citizenship and having rights recognised.
Reconstituting identities The rise of the biosocial self alluded to earlier within the broad shift of geneticisation, or the increasing tendency to employ a genetic explanation of conditions, has given rise to new and different expressions of identity. The notion of biological – or, more specifically, genetic – citizenship necessarily entails rights and responsibilities. Claims-making and enactment of identities in these areas constitute another representational arena. Speaking for the rights of vulnerable, oppressed or voiceless groups provides another way of constructing and remaking identities. Such vulnerability or oppression has been framed in terms of genetic discrimination, arising from the increasingly genetic conceptualisation of disease. This has led to claims for expanding the scope of citizenship rights for broader groups of people. As a result, the size and scope of representation networks has expanded, allowing these larger networks to increase their range of activities and scope of influence. Callon and Rabeharisoa’s research illustrates this as they trace French muscular dystrophy networks expanding their spheres of activity and influence as a result of the discovery of a genetic basis for the disease (Callon and Rabeharisoa 2008). 193
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In fact, Callon and Rabeharisoa study one instance of a pattern which has been repeated across a number of other health conditions (see also Schaffer et al. 2008; Terry and Terry 2006). The right to treatment and healthcare for those identified with genetic conditions has also been given voice through new alliances and formal networks of interest. Genetic Alliance is one example of such a network consisting of numerous genetic disease organisations the individual membership numbers of which are too small to be of interest to researchers or funders but which use coalition and formalised institutional arrangements (e.g. becoming a resource base of tissue repositories or providing clinical trial participants) to provide a sufficient counterweight to indifference or being ignored. Identity formations can also occur at the level of the nation or state. Discourses of identity in the bio-banking industry have offered ways of capitalising on national homogeneity or diversity. For Estonians, for example, the gene bank project became a way to ‘extract both real and symbolic value from a difficult past’ after the country had endured successive waves of occupation by foreign nationalities, and as it confronted the challenges of retaining and enhancing identity in the context of globalisation and Europeanisation. Given the tenuous nature of Estonian national identity, the database was framed in terms of nation-building and identity formation (Fletcher 2004). Nevertheless, claims to genetic citizenship rights are not always uni-dimensional or straightforward. In their study of the advocacy work carried out around dwarfism, Taussig and colleagues (2005) recognised the complexities engendered by such claims based on overcoming long-standing biases against atypical bodies. The demand for rights to correct ‘imperfections’ through genetic technologies and the fears that the same technologies could be deployed against groups viewed as ‘imperfect’ sometimes leads to a ‘flexible eugenics’ approach, reflected among groups such as the Little People of America. Such contradictions ‘make[s] it difficult to distinguish the gifts from the iatrogenic poisons of contemporary medical genetics’ (p. 197).
Reframing risks and benefits and managing uncertainties. The reconstitution of identities and rights and responsibilities similarly bears on representations of risks and benefits. In the context of genomics, such representations tend to be more complex on two levels. In the first instance, genetic conditions and their concomitant risks can apply to individuals, families and communities. Such representations of risk can bring about different expectations of one’s future and different responsibilities and obligations to one’s self and to others (Novas and Rose 2000). Second, genes, proteins and other sequences are bound neither by geography nor by generation. The idea of risk in the context of genomics has been represented in different ways, in different settings, for different groups. In many instances, the risk calculus is intimately tied to the calculation of benefits. Quite often, the projection of anticipated benefits has to be accompanied by the readjustment of risk projections. Speaking of the change in risk perspectives that occurs with membership in a patient organisation lobbying for changes in research processes and diagnostic and treatment modes, one group of patient organisers suggested that this perspective now includes a willingness to accept more and different kinds of risks, a willingness to sacrifice more to attain benefits, and a broader understanding of a shared inheritance (Terry et al. 2007: 413). The representation and regulation of risks across borders, exemplified by the notion of gene flows, genetic contamination and pollution, have successfully resulted in 194
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transnational regulatory mechanisms, with the Cartagena Protocol on Biosafety being an example of an attempt to provide national control over the entry of ‘living modified organisms’. Stakeholders claiming rights to have a say on procedures around GM-crop field trials by constructing genetic risk as ‘an intrusion into social space’ constitute a further instance of the redrawing of social boundaries and regulations around the geography of risk (Bonneuil et al. 2008).
Representing new forms of knowledge production Activities of grassroots stakeholder organisations in the human genetics arena illustrate another aspect of representational work which focuses on knowledge production. Conveying the notion that knowledge production is not just output, but a constellation of ideas, resources, standards and procedures, legislative and policy frameworks, and cultural climates has been key to the way in which patient stakeholder organisations have carried out representational activities. The story of PXE International demonstrates stakeholders transforming the way different knowledges are represented, produced and translated. PXE International was founded by patients diagnosed with Pseudoxanthoma Elasticum or PXE, a disease which causes central vision loss, subsequent blindness, gastrointestinal and cardiovascular disease and other manifestations. Those who suffer from rare diseases like PXE face a number of challenges, including limited or conflicting medical advice, restricted funding and pools of participants for research and, as a consequence, little interest from the research community (Wästfelt et al. 2006; Terry et al. 2007; Terry and Terry 2006). A concerted attempt to address these challenges was mounted with the creation of PXE International. These stakeholders developed a Blood and Tissue Bank, the parameters of which were defined by the patient community. The organisation engaged the donor patient community to create a registry of well-annotated samples. They also collaborated with the research community, providing funding and access to tissue samples through contractual arrangements including material transfer agreements (Terry and Terry 2006). Such research provided the basis for the discovery of the gene associated with PXE, which was then co-patented by PXE International and its scientific collaborators. This was the first time a patent was held by a patient organisation. This organisation is also working with the FDA to approve a genetic test for PXE, again a first in terms of a stakeholder, non-profit patient organisation applying for FDA’s diagnostic review and device clearance. The history of PXE International resonates with similar histories of patient stakeholder groups that developed, typically from parental anguish and despair, into formal organisations that worked their way from home to hospital room to legislative and policy domains (Heath et al. 2003). The larger and longer-standing coalition of genetics advocacy organisations under the umbrella of the US-based Genetic Alliance, a coalition of several hundred rare genetic disease organisations, and the European Organisation for Rare Diseases (EURORDIS), also a patient-driven alliance of organisations covering over 1,000 rare diseases, have developed partnerships with regulatory authorities, pharmaceutical companies, small and large biotechnology enterprises. They have networked to raise pools of funding and research resources through tissue banks for basic research and following through to drug development (Wästfelt et al. 2006; Crimpton 2007; Terry et al. 2007). 195
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These organisations have significantly revamped research procedures, notably re-writing standardised protocols for informed consent, and creating formal agreements such as memoranda of understanding and material transfer agreements and licensing procedures to govern the use of tissue samples. What these patient networks have called ‘disruptive innovation’ (Terry et al. 2007) characterises the alternative representations of knowledge production and translation that are being projected. Nowhere in the scientific research community has such a full web of knowledge work and actor-networks been instituted that incorporates the research process from knowledge production to clinical use. This is evident in practices such as patients or family members patenting knowledge, providing data previously unavailable or inaccessible to scientists, collaborating in its use and interpretation, participating as co-authors in scientific publications, thereby extending research in helping to develop diagnostic tools and therapeutic possibilities.5 These stakeholder organisations have further redefined the role of research participants, no longer positioning them as subjects, affected individuals or patients who simply provide ‘informed consent’. Rather, they are represented as active agents who are participating in ‘informed decision-making’ (Terry et al. 2007). Hence, participants are not just donors of biological samples; they have helped enrich databases through vital annotations, through provision of material from medical records, questionnaire information and details pertaining to family histories. They have raised significant pools of funds and controlled how these were to be deployed, essentially redefining research agendas. They have also been strong supporters of open access principles and have promoted the practice of publicising negative findings, not just positive results. Such practices have provided further detail to our understanding of processes of co-production of knowledge (Jasanoff 2004). The reframing of scientific knowledge can also be identified as characteristic of the representational practices of civil society organisations that dispute the promise of gene technologies. GeneWatch UK, a non-profit group monitoring genetic technologies, has written policy papers on the issue of environmental liability as a consequence of GMOs in crops, investigated claims of companies marketing genetic tests, or contested regulatory claims about the value of cloned animals for food (www.genewatch.org). More generally, the organisation has held science to account in fora as diverse as town halls, policy corridors and academic journals (Mayer 2003). The organisation has also made representations about forms of genetic discrimination which may be among the unintended consequences of breakthroughs in genetic technologies, for example, by challenging funding allocations for nutrigenomics, given that genetic differences may have limited impact on an individual’s risk of diet-related disease and that more critical public health priorities are being neglected (GeneWatch 2006). Stakeholder representations are often on-going story-lines or narratives, which aim to keep other stakeholders apprised and motivated. Stakeholder organisations will engage in maintaining accounts of injustice or of successes attained.
Representations, policy frames and new models of governance and accountability What can we say about outcomes or impacts of representations in this field? The impacts of risk representations on regulatory frames – at least in agricultural biotechnology – has been most pronounced in the European context. As detailed elsewhere (see, for example 196
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Devos et al. 2006), public concerns and representations by a range of stakeholder groups contributed to the de facto moratorium on the commercialisation of GM crops at the end of the 1990s. This was followed by continuous revision of regulations, from labelling requirements to regulations on the traceability of the adventitious presence of GM and on coexistence with non-GM crops. Such a trajectory of interplay between societal and scientific considerations can be viewed as part of ‘a quest to render more explicit the broader-than-scientific dimension of risk analysis’ (Devos et al. 2006: 27). The role that patient organisations have played in contributing to and helping to transform the processes of knowledge production and translation in the arena of the genetics of rare diseases provides evidence that stakeholder groups and their allied networks of experts serve as critical ‘sites for the constitution and reconstitution of the scientific enterprise’ (Jamison 2006: 56). At the same time, one has to recognise that they are savvy traders in the political economies of hope. Operating in modes similar to those of their counterparts in the environmental movement, they can reconfigure scientific and policy work on the basis of currencies of dissatisfaction and disillusionment as a first step to offering alternative paradigms for knowledge production. As discussed by Nowotny (2003), there is a move from ‘reliable expertise’ to more socially robust expertise, a move that is slow and sometimes barely perceptible. With the disillusionment within technological democracies and with increasing awareness of their deficits, demands for more effective and accountable forms of governance that build in, rather than hide, the uncertainties inherent in the scientific enterprise have developed. The use of foresight mechanisms that complement current scientific evidence with stakeholder views to build roadmaps for technological directions (Webster 2005) is one approach that builds in the identification of areas of uncertainty with consideration of alternative potential directions. Here, uncertainty is viewed not as ‘an absence’, but as a potentially enabling strategy for governing (Gottweis 2005). This is one example of recent attempts at governance experimentation within policy and industry domains (Hall and Vredenburg 2003).
Conclusions Genomic technologies, like other technological sets, play out in the context of expanding technical knowledge, cultural politics and political economies of selection and rejection, regulation, and public discussion and debate, in both national and transnational levels, all of which influence how some technologies languish, some flourish or some develop new forms. Representations of these technologies in the public sphere by various stakeholders are crucial in the mapping and understanding of these technological trajectories. What can we learn from this broad overview of representational work in the field of genomics? Genomics has offered a good arena for understanding the details of ‘meaning work’ as described by Benford and Snow (2000: 32). Because the development of genomic technologies is occurring within a particular historical context, a number of aspects of representational activities have become more clearly foregrounded. The activities we have described in this chapter demonstrate that the arenas for representational activities have changed, going beyond the old arenas of the laboratory or policy realms or even the traditional media to a more diverse collection of spaces in the agora. Stakeholder representations are making inroads in new fora – from journals to patent offices – that were once limited to technical experts. 197
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Representational activities have also expanded beyond savvy use of the media, letters to regulatory authorities, or placards in the streets. Stakeholder groups are creating new institutions, refashioning old ones or challenging new ones being created to accommodate alternative visions of technological directions. While this is not unique to genomics, this technological field has afforded a closer look at such processes because of the concerted interest it has drawn from scholars from different fields. The examination of representational activities in the context of the particularities of genomics has also offered some interesting theoretical insights. Because of genomics being located at different intersections – between nature and culture, genetic and social identities, patterns of ownership and kinship, illness and health, our understandings of boundary work have been extended further. For example, the multiple and sometimes contradictory meanings of identity, rights and responsibilities, are reflected in the boundary objects of genomics. Ideas of ownership around genes and other molecular objects as property – disputed by some stakeholder groups and appropriated by others – have displayed contemporary complexities around ‘property’ and ownership. It is clear that many more questions need to be explored around stakeholders, representations and genomics. We have described the different alliances of stakeholder organisations and how they have contributed to different sites of expertise. In the case of health movements, critical researchers have asked how the politics of expertise has been complicated by the politics of alliances and division (Epstein 2008). This is a question which is similarly applicable to genomics stakeholder groups. Alternatively, we might also ask what new types and configurations of expertise arise from different alliances as genomics and its associated fields proceed along their trajectories, and what new representational forms might emerge. We also recognise that representations are not fixed. While representations can influence the direction and pace of technological trajectories, they are also reshaped by shifting alliances of actor networks and other conditions. The processes of the on-going social reshaping of representations in twenty-first century biosciences requires further research. As genomics continues to branch out into its various specialty domains, representational activities will emerge within different specific contexts. How different stakeholder groups shape representations and how they, in turn, are influenced by changing representations in the public sphere over time will continue to be an important focus for critical attention and investigation.
Notes 1 Evelyn Keller has provided this apt label (Keller 2002). 2 ‘Cybrids’ is short for cytoplasmic hybrids, which are cell lines produced by the fusion of whole cells from one source into another enucleated cell (one whose nucleus has been removed). For example, a human cell might be embedded into an evacuated animal cell to induce development of a cell line for stem cell therapy. Interestingly, the term ‘cybrids’ also refers to fictional sentient machines that have been incorporated into videogames. 3 ETC stands for Erosion, Technology and Conservation. In its earlier incarnation as Rural Advancement Foundation International, it was dedicated to drawing attention to the socioeconomic and scientific issues related to the conservation and use of plant genetic resources, intellectual property and biotechnology. ETC has subsequently extended its focus to a broad range of new technologies and their impacts on disadvantaged groups. 4 Attempts were mounted to lift the moratorium in 2004 and again in 2006. When some governments, including Argentina, Australia and Canada, argued for lifting the moratorium and adopting a
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case-by-case approach to the use of terminator technologies, a large mobilisation effort was mounted through a broad coalition of peasant farmers, indigenous groups and an assortment of civil society organisations at the meeting of the UN CBD in Curitiba, Brazil. 5 Terry et al. 2007 detail instances of rare genetic disease situations in which people with these conditions or their family members have either gone on to become scientific researchers themselves or have collaborated with scientists in research studies, ending up as authors or co-authors in gene discovery studies or elaborating gene functions and activities as well as in the identification of potential treatments.
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Keller, E. Fox (1992) Secrets of Life, Secrets of Death, London: Routledge. ——(1995) Refiguring Life: Metaphors of Twentieth Century Biology. New York: Columbia University Press. —— (2002) The Century of the Gene. Cambridge, MA: Harvard University Press. Knoppers, B.M. and Joly, Y. (2007) ‘Our social genome’, Trends in Biotechnology, 25, 7: 284–8. Latour, B. (1987) Science in Action: How to Follow Scientists and Engineers through Society. Cambridge, MA: Harvard University Press. —— (1993) We have never been modern, Cambridge, MA: Harvard University Press. —— (2005) Reassembling the Social: An Introduction to Actor-network Theory. Oxford: Oxford University Press. Lippman, A. (1992) ‘Led (astray) by genetic maps: the cartography of the human genome and health care’, Social Science and Medicine, 35, 12: 1469–76. Louwaars, N., Thorn, E., Esquinas-Alcazar, J., Wang, S., Demissie, A. and Stanaard, C. (2006) ‘Access to plant genetic resources for genomic research for the poor: from global policies to target-oriented rules’, Plant Genetic Resources, 4, 1: 56–63. Mayer, S. (2003) ‘Science out of step with the public: the need for public accountability of science in the UK’, Science and Public Policy, 30, 3: 177–81. Mitchell, W. (1994) Picture Theory. Chicago, IL: University of Chicago Press. Mitchell, R.K., Agle, B.R. and Wood, D.J. (1997) ‘Towards a theory of stakeholder identification: defining the principle of who and what really counts’, Academy of Management Review, 22, 4: 853–86. Moscovici, S. (1984) ‘The phenomenon of social representations’, in J. Farr and S. Moscovici (eds) Social Representations. Cambridge: Cambridge University Press, pp. 3–69. —— (1988) ‘Notes towards a description of social representations’, European Journal of Social Psychology, 18: 211–50. Novas, C. and Rose, N. (2000) ‘Genetic risk and the birth of the somatic individual’, Economy and Society, 29, 4: 485–513. Nowotny, H. (2003) ‘Democratising expertise and socially robust knowledge’, Science and Public Policy, 30: 151–6. Parkinson, J. (2004) ‘Hearing voices: negotiating representation claims’, British Journal of Politics and International Relations, 6: 370–88. Personalised Medicine Coalition (2007) ‘The age of personalized medicine: an interview with Francis Collins’; online: www.ageofpersonalizedmedicine.org/experts/government_policymakers/francis_coll ins.asp (accessed 15 December 2007). Pinch, T.J., and Bijker, W.E. (1984) ‘The social construction of facts and artefacts: or how the sociology of science and the sociology of technology might benefit each other’, Social Studies of Science, 14: 399–441. Purdue, D.A. (2000) Anti-GenetiX: the emergence of the anti-GM movement. Aldershot: Ashgate. Rabinow, P. (1996) Essays on the Anthropology of Reason. Princeton, NJ: Princeton University Press. Rheinberger, H. (2000) ‘Beyond nature and culture: modes of reasoning in the age of molecular biology and medicine’, in M. Lock, A. Young and A. Cambrosio (eds) Living and Working with the New Medical Technologies: Intersections of Inquiry. Cambridge: Cambridge University Press, pp. 190–230. Rose, N. (2007) The Politics of Life Itself: Biomedicine, Power, and Subjectivity in the 21st Century. Princeton, NJ: Princeton University Press. Sabatier, P.A. and Jenkins-Smith, H. (1993) Policy Change and Learning: An Advocacy Coalition Approach. Boulder, CO: Westview Press. Schaffer, R., Kuczynski, K. and Skinner, D. (2008) ‘Producing genetic knowledge and citizenship through the internet: mothers, pediatric genetics, and cybermedicine’, Sociology of Health and Illness, 30, 1: 145–59. Scoones, I. (2008) ‘Mobilizing against GM crops in India, South Africa and Brazil’, Journal of Agrarian Change, 8, 2–3: 325–44. Service, R. (1998) ‘Seed-sterilizing terminator technology sows seeds of discord’, Science, 282, 5390 (30 October): 850–1.
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Smillie, I., Helmich, H., German, T. and Randel, J. (2002) Stakeholders: Government–NGO Partnerships for International Development. London: Earthscan. Smith, A., Stirling, A. and Berhout, F. (2005) ‘The governance of sustainable socio-technical transitions’, Research Policy, 34, 10: 1491–510. Snow, D. and Benford, R. (1992) ‘Master frames and cycles of protest’, in A. Morris and C. McClung Mueller (eds) Frontiers in Social Movement Theory. New Haven, CT: Yale University Press. Steinbrecher, R.A. and Mooney, P.R. (1998) ‘Terminator technology: the threat to world food security’, The Ecologist, 28, 5: 276–9. Stoney, C. and Winstanley, D. (2001) ‘Stakeholding: confusion or utopia? Mapping the conceptual terrain’, Journal of Management Studies, 38, 5–6: 603–26. Taussig, K., Rapp, R. and Heath, D (2005) ‘Flexible eugenics: technologies of the self in the age of genetics’, in J.X. Inda (ed.) Anthropologies of Modernity: Foucault, Governmentality, and Life Politics. London: Blackwell, pp. 194–214. Terry, S.F. (2003) ‘Learning genetics’, Health Affairs, 22, 5: 166–71. Terry, S.F. and. Davidson, M. (2000) ‘Empowering the public to be informed consumers of genetic technologies and services’, Community Genetics, 3, 3: 148–50. Terry, S.F. and Terry, P.F. (2006) ‘A consumer perspective on forensic DNA banking’, Journal of Law, Medicine and Ethics, Summer: 408–14. Terry, S.F., Terry, P.T, Rauen, K., Uitto, J. and Bercovitch, L. (2007) ‘Advocacy groups as research organizations: the PXE International example’, Nature Reviews Genetics, 8: 157–64. Turney, J. (1998) Frankenstein’s Footsteps: Science, Genetics, and Popular Culture. New Haven, CT: Yale University Press. Tutton, R. (2007) ‘Banking expectations: the promises and problems of biobanks’, Personalized Medicine, 4, 4: 463–9. Verfaillie, H. (2000), ‘A new pledge for a new company’, Farm Journal Conference, Washington, DC, 27 November; online: www.biotech-info.net/new_Monsanto.html (accessed 10 January 2008). Wästfelt, M., Fadeel, B. and Henter, J. (2006) ‘A journey of hope: lessons learned from studies on rare diseases and orphan drugs’, Journal of Internal Medicine, 260: 1–10. Webster, A. (2005) ‘Social science and a post-genomic future: alternative readings of genomic agency’, New Genetics and Society, 24: 227–38. Wolfe, R. and Putler, D.S. (2002) ‘How tight are the ties that bind stakeholder groups?’ Organization Science, 13, 1 (January–February): 64–80. World Health Organization (2000) A Quick Reference Compendium of Selected Key Terms Used in the World Health Report 2000, Geneva: WHO; online: http://who.int/health-systems-performance/docs/ whr_2000_glossary.doc (accessed 21 July 2008).
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15 Human genetics and cloning in the media Mapping the research field Joan Haran and Jenny Kitzinger
1 Introduction The twenty-first century has witnessed a series of dramatic announcements about breakthroughs in human genetic research. These range from introducing the ‘first draft’ of the human genome by a UK/USA alliance (first announced in 2000) to a series of claims around the cloning of human embryos in South Korea and in the UK (in 2004/ 2005). In addition, a steady stream of other genetic stories have hit the headlines, including those associated with: the birth of the first ‘designer baby’, the manufacture of genetically engineered medicines, the discovery of new genes linked to disease and the development of stem cell-based therapies. The display of bioscientific achievements through a flurry of media attention has a very long history which extends back to such landmark moments as the discovery of the structure of DNA (in 1953), the birth of the first ‘test-tube’ baby (in 1978) and the unveiling of Dolly the cloned sheep (in 1997). Each of these events became pivotal in the generation, not just of new scientific possibilities, but also of new cultural understandings. Hence, the discovery of the structure of DNA, was not simply a ‘scientific event’ (not that any event is ever simply ‘scientific’), but it also involved the image of the double helix itself which subsequently became ubiquitous and gave impetus to the idea that life was governed by a long string of codes, ACGT (Nelkin and Lindee 1995). Likewise, the development of IVF in the 1970s and 80s not only facilitated the acquisition of technological capacities for human genetic research but also garnered cultural resources that enabled the imagining of, and legislative frameworks for, future developments such as stem cell research (Haran et al. 2008: 19). Moreover, the unveiling of Dolly the sheep not only revealed a technical achievement in animal biology, it also sparked broader cultural engagement with the future potential, or threat, of human cloning (Franklin 2007; Petersen 2002). Against this background, this chapter examines research around the media coverage of human genetics in the twenty-first century. However, this exploration is framed with reference to the longer histories of associated scientific and policy events, cultural imaginings, media coverage and related theoretical debates. Our analysis concentrates on research published in English and most of the studies we discuss are concerned with 203
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developments in the UK, the USA or South Korea. This focus partly reflects our areas of expertise (and the limitations of our linguistic capabilities), but is also justified because these three countries have been important locations for the development of human genetics and hence also, for explosions of media attention to these developments and, in turn, for research analysing such media coverage. In the first half of the chapter we map the diverse interests which have informed and sustained research on media coverage of genetics. Thus, we chart some of the policy priorities and disciplinary, political and intellectual traditions which have framed explorations in this field. Having set the scene in this way, we briefly review three classic studies from the 1990s, before introducing more recent research and reviewing the approaches, design and methods of these studies and reflecting on some of their theoretical and political features.
2 The impetus and framework for research The following section examines the impetus and framework for research on the media and human genetics. In Part 2.1. we introduce four different approaches to media representation of human genetics. In Part 2.2. we discuss how policy priorities and funding sources have helped to create a framework for enquiries in this field. In Part 2.3. we explore disciplinary backgrounds and political perspectives which inform this research. 2.1 Four policy priorities The impetus for funding much research on media and human genetics has been informed by four main strands of public policy. These revolve around concerns regarding: health education, scientific literacy, the public image of science and ‘scientific democracy’. Such strands should not be reified and, indeed, there is much overlap and exchange between them. However, it is helpful to map out these four broad approaches in order to reflect on the social, economic and political forces which have helped to shape the infrastructure for much recent research on media and human genomics. Each of these four approaches is considered below under the following headings:
Health Education Public Understanding of Science Public Relations of Science Public Engagement with Science
(See Table 15.1 for an at-a-glance summary.) The Health Education agenda is concerned with public information and enhancing individuals’ capacities to ensure their own well-being. Research on media coverage of human genetics from this perspective addresses questions such as: are the media informing or misinforming audiences about genetic risks and discoveries? How do the media influence or provide resources for patients’ encounters with genetic counsellors? How is genetic testing presented to the public in terms of its validity and consequences? The Public Understanding of Science (PUS) approach goes beyond thinking about ‘patients’ or ‘risk groups’ to consider ‘the public’ more generally. The term PUS 204
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Table 15.1 Policy drivers – approaches to media and human genetics
Approach
Examples of the type of questions pursued
Health education
Are the media informing or misinforming patients about genetic risks? How do the media influence patients’ encounters with genetic counsellors? Do the media represent science accurately? Is the public being well informed? Do they enable the public to tell the difference between ‘good science’ and ‘pseudo science’? What message is reaching shareholders or consumers? How do voters respond to different accounts? Which campaign material has been most effective? How can we create a more engaged public? How do the media empower or dis-empower various publics from engaging with human genetic science – including with the politics and ethics of its development? How do scientists use the media to promote their work?
Public understanding of science
Public relations
Public engagement
designates the collective comprehension and knowledge of science acquired in specific societies and it has become the conceptual register for a variety of assessments and interventions. The PUS approach is particularly visible in editorials in science journals and in some parliamentary speeches in the UK, which include calls to develop ‘scientifically literate’ citizens. Such calls are often oriented around expectations about educating children and young people to supply the technoscientific labour force of the future (Department of Trade and Industry 2003). The orientation is towards cultivating a population which both comprehends and appreciates scientific and technological advances. Often the assumption here is that a scientifically literate public is more likely to be supportive of scientific developments. Research generated by those concerned with PUS pursues questions such as: do the media represent science accurately and do they enable the public to distinguish between ‘good science’ and ‘pseudo science’? Are scientists fairly and appropriately represented (for example, as thoughtful and/or engaged, rather than as evil and mad)? How is science itself represented? The Public Understanding of Science (PUS) approach can overlap with a Public Relations strand of research. Research into the media and human genetics inspired within this strand tends to involve media monitoring and public opinion polls mapping the contours of public debate. Such research is designed to inform campaigns by political groups or to help to develop specific political or scientific initiatives. It may also be used commercially, for example, as part of the image-management and strategies of biotechnology companies. Research associated with public relations tends to focus on questions such as: which newspapers are taking which ‘angle’ in framing a particular debate and how can editors/journalists be influenced? What message is reaching shareholders or consumers? How do voters respond to different accounts of developments in this scientific field? Which rhetoric or campaign material has been most effective in swaying opinion or behaviour? The Public Engagement strand is the fourth and final theme in this map of the field. This model emphasises that concern with public understanding of science in and of itself is 205
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inadequate. It advocates that publics need to be more involved. Its proponents maintain that, rather than simply passively ‘understanding’ science, members of the public should be substantially enlisted into, or with, science. Scientists, they argue, also need to understand, and respond to, the public. The Public Engagement label may be used to identify a wide range of activities including consultation or engagement activities, as well as evaluation or action research (Turney 2006). This may involve innovative media use to encourage debate about genetics (see Smith’s 2006 article on pod-casting) or activities such as science cafés, exhibitions and citizen juries.1 Research generated by those concerned with Public Engagement asks questions such as: how can we create a more engaged public? What are the public’s priorities in the development of science? How does media coverage promote or undermine meaningful dialogue between scientists and other citizens? How do the media empower or disempower various publics from engaging with human genetic science? Research informed by this approach may also turn the research gaze onto scientists themselves, asking how scientists and policy makers use the media to promote a ‘pro-innovation’ agenda and ‘sell’ science to the public and to funders. It is important to make a couple of caveats at this point. First, we note that each of the approaches outlined above covers a broad field of research. Thus, it is possible to identify within each trajectory a continuum from relatively conservative to more radical approaches. Health Education research, for example, ranges from profoundly condescending, individualistic, conservative policing strategies to radical community empowerment initiatives (such as those framed by feminist or by gay liberation agendas). It is also important to observe that the boundaries between the four approaches outlined above are fluid, and disputed. Some versions of Public Engagement, for example, can simply be Health Education or PUS approaches in a new guise, or operate as a form of PR in that they simply emphasise new ways of getting the public ‘on board’. Other versions of Public Engagement, however, foreground the importance of active exchange (between scientists, policy makers and the public) and some explicitly encourage the public to help ‘set the agenda’ – especially via ‘upstream engagement’ (Matterson 2006). 2.2 Reflection on political context and background for funding The emphasis given to each of the four approaches outlined above varies depending on context and on the type of genetic research under discussion. For example, the PR strand of enquiry is particularly evident in the USA in relation to embryonic stem cell research (see Coyle 2007). This is due, in part, to the fact that embryonic stem cell research has become a controversial party political issue there (Democrats versus Republicans). The interest in detailed assessment of public opinion and the role of the media was also intensified in the USA by internal conflict within political parties and within the political structure. While President Bush operated his right of veto to prevent federal funding for stem cell research on human embryos, the former Republican president, Ronald Reagan, became the focus of much pro-stem cell research campaigning after he developed Alzheimer’s disease. In addition, the stem cell field precipitated complex negotiations between some state governments and federal authorities. (For example, California undertook a distinctive policy endorsing human embryonic stem cell research.) In this context, it is perhaps not surprising that funding for research on the media and public attitudes to stem cell research in the USA has often come from political parties and religious organisations (see Coyle 2007). 206
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However, party politics has been less significant in relation to the broad pattern of human genetic research in which the USA has played a leading role (e.g. mapping the human genome). The National Institute of Health’s ‘ELSI’ initiative, which provided support for research on ethical, legal and social aspects of genomics (1990) ensured resources for social science work in general and for media studies in particular. The ELSI programme was set-up as a component of the Human Genome Project (HGP) to ‘foster basic and applied research on the ethical, legal and social implications of genetic and genomic research’ (www.genome.gov). It financed some of the leading figures in the field to develop their existing work on media and human genetics and encouraged new scholars to enter the field. Recipients of grants from this source include Dorothy Nelkin, co-author of The DNA Mystique (1995), and Celeste Condit, author of The Meanings of the Gene (1999). The NIH website lists 25 articles, chapters and books about media coverage of genetics as part of the programme’s output (www.genome.gov/17515635). Likewise, the prominence of the UK in mapping the human genome has influenced the financing of studies of media coverage of this field. In the UK, specific local patterns and situations have also shaped the pattern of research. These have included the UK’s investment in and ‘progressive’ approach toward stem cell research, as well as the particular history of relations between policy makers and citizens in this country. For example, the Public Engagement approach has emerged as especially important in the UK partly because of a series of crises around science and technology policy which led to problematic encounters between the UK government and the media and/or the public during the 1990s. In particular, the BSE (or ‘mad cow’) crisis resulted in the UK government being severely criticised for how it handled scientific advice and for how it translated this into public information, policy and action (see Royal Society 2004). The BSE crisis was swiftly followed by another episode in which protestors successfully challenged government plans to introduce GM crop trials in the UK (Horlick-Jones et al. 2007). Hence, Public Engagement strategies in the UK have been adopted as a way of avoiding conflict or protest when new scientific or technological initiatives (such as stem cell research or nanotechnology) are explored. This strategy was explicitly signalled by the House of Lords’ Select Committee on Science and Technology, in their Third Report (House of Lords 2000). They commented that ‘public confidence in science’ had been eroded, leading to ‘a new humility on the part of science’ and ‘a new assertiveness on the part of the public’ (House of Lords 2000: 5.1). They concluded that: ‘Today’s public expects not merely to know what is going on, but to be consulted; science is beginning to see the wisdom of this, and … to engage in dialogue aimed at mutual understanding’ (ibid.). In the same year that the House of Lords Report was issued (2000), the leading organisation of UK science, the Royal Society, established its ‘Science in Society’ programme. The Royal Society declared that controversies over BSE and GM foods had ‘convinced the Society that a dialogue with the public was important to ensure science’s licence to practise’. Their ‘Science in Society’ programme was designed to advance ‘the role of responsible and responsive science, engineering and technology … through engendering informed debate on science and working with the science community to embed the principles of dialogue and highlight the mechanisms of public policy development’ (Royal Society 2007; see http://royalsociety.org/downloaddoc.asp?id = 556). Partly in response to the controversies discussed above, UK state funding for research on social aspects of science and technology was bolstered both directly (e.g. through funding from government departments) and indirectly as the government influenced the 207
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agenda of major science and social science grant awarding bodies such as the ESRC (the Economic and Social Research Council). The Copus Grant Schemes, for example, funded by the Office of Science and Technology and the Royal Society, was designed to support and encourage ‘ways of making science accessible to public audiences in the UK’ (www.copus.org.uk/grants_about.html). This programme distributed about £1.5 million from 2001 to 2004. In a related response to the House of Lords report (2000) cited above, the ESRC established a £5.2 million research programme designed ‘to explore the rapidly changing relations between science … and the wider society, and thereby to facilitate debate and policy development’ (www.sci-soc.net/SciSoc/AboutUs/ProgrammeSpecifications/). Since then the ESRC has committed a further £12 million for new research initiatives specifically focused on social and economic aspects of genomics (see www.genomics.hss.ed.ac.uk/default.aspx?pageId = 43). These initiatives resulted in several projects on media coverage of genomics (e.g. see Haran et al. 2008). In a listing which parallels that provided by the NIH in the USA, more than two dozen outputs pertaining to human genetics and the media are cited on the ESRC website.2 The resourcing of institutions and individuals exploring the social and cultural aspects of human genetics and genomics has provided a strong infrastructure for media research within this field. Indeed, these investments constituted an unprecedented allocation of funding to social science and humanities investigations of the natural sciences. As indicated above, this infrastructure was indicative of the priorities of governments, other policy makers and of some segments of the scientific community in the UK and USA in the early twenty-first century. Nevertheless, research on science and the media does not always involve, or result from, intensive funding or policy priorities. Nor does funding wholly determine who becomes involved in such work or the approach they pursue. In this regard, the political and disciplinary diversity of research communities may also be significant. Moreover, over the last decade or so, in the UK and USA, the exchanges between policy makers, members of the scientific community and social science, arts or humanities researchers have been extensive and rich. These exchanges have also been important in shifting priorities as science policy makers have sometimes come to appreciate the value of tapping a diverse range of perspectives in dealing with technoscientific controversies. In the following section we examine some other factors which inform research in this field – factors which cross-cut some of the funding/policy priorities outlined above. 2.3 Disciplinary influences and political perspectives informing research on human genetics and the media Investigating key figures who have undertaken research on media and human genetics highlights the diverse disciplinary backgrounds of those involved and the cross-disciplinary approaches that have been developed. Although some commentators have followed a fairly linear career trajectory (e.g. with a university education in science communication leading to work within a PUS framework), others are ‘hybrids’. These hybrids come from a variety of socio-political and cross-disciplinary backgrounds and often work in interdisciplinary teams.3 A scan of personal web pages, for example, reveals that key figures in the field have backgrounds in philosophy, ethics, journalism, politics, geography, law, social sciences, linguistics, rhetoric, the sociology of medicine, history or literature. Debate about the politics of genetics also draws on a wide range of social and political movements and their resources, including: post-colonial, disability, queer and 208
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feminist movements. Researchers may be attracted to this field of enquiry through their interests in a variety of social justice concerns. This is not surprising, given that the process of conducting genetic research, and the uses to which findings are put, can raise issues around human rights. Centres such as the Corner House (in the UK), the Centre for Genetics and Society (in the USA) and WomensLink (in South Korea) produce important briefing papers challenging various aspects of genomic research and practice. Their interests range from ‘biological piracy’ in indigenous communities, to the civil liberty implications of DNA databases, or to the exploitation of women in egg ‘harvesting’ for stem cell research. This last issue, for example, has mobilised scholars and activists who developed their expertise in this field through studying and campaigning around reproductive rights and technologies (such as IVF) during the 1970s, 1980s and 1990s (see Dickenson 2007). Moreover, it has long been recognised that the ‘findings’ of genetic research can be potent weapons in a range of political debates, including those that pertain to race, gender or disability (to mention but a few spheres) (see Ellison and Goodman 2006; Shakespeare and Kerr 2002; McCann-Mortimer et al. 2004). Indeed, a scandal erupted around some recent pronouncements by the US scientist, James Watson, who was awarded a Nobel Prize (together with Francis Crick and Maurice Wilkins) for the discovery of the double-helix structure of DNA. Watson informed a journalist from the London Times that he was ‘inherently gloomy’ about the prospects for Africa because ‘all our social policies are based on the fact that their intelligence is the same as ours – whereas all the testing says not really’. He went on to say that, although he hoped that all races were equally intelligent, ‘people who have to deal with black employees find this is not true’ (Watson quoted in the Sunday Times, 14 October 2007). Tracing and analysing the politics evident in the issues outlined above is a main strand in the various critical traditions which study science, including feminist techno-science studies and the sociology of scientific knowledge (SSK), as two critical traditions within the broad field of science and technology studies (STS).4 (See Jasanoff et al. 2002 for a review of these.) Researchers analysing media coverage of genetics, informed by and developing such approaches, challenge assumptions about the neutrality of scientific discourses. From such perspectives there is little point in assessing the educational value, ‘sensationalism, ‘accuracy’ or ‘bias’ of media accounts, as if these were objective gauges and concepts. Instead, they foreground the social and economic context of science and the rhetorical constructions and discourse of scientific papers and scientists’ and policy makers’ speech. For example, from a critical STS perspective, the fact that scientists insist that a pre-14day-old embryo should be known as a ‘blastocyst’ might be the starting point, rather than the end-point, for analysis. Rather than merely accepting the label of ‘blastocyst’ as a correct scientific designation, some critical scholars have examined how the term came to be created and what function it serves (Williams et al. 2003). Similarly, while some scientists have insisted that ‘therapeutic cloning’ is quite different from ‘reproductive cloning’ and that one is ‘real’ and the other ‘merely fiction’, critical commentators have maintained that this does not make that distinction natural and inviolable. Instead, they have traced the boundary work involved in creating this distinction (Haran et al. 2008). Having set the scene by mapping some of the most prominent traditions in media research around human genetics and having identified some cross-cutting political and disciplinary approaches, we now offer a more detailed examination of some important 209
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research in this field. We begin by briefly reviewing three texts from the 1990s. In each case, we reflect on the author’s research trajectory and on the questions raised by their work. We then turn our attention to more recent work.
3 Review of key areas of research 3.1 Three classic studies from the 1990s Three texts published within a few years of each other in the 1990s have become classic reference points for research on media coverage of genetics. These are: The DNA Mystique by Dorothy Nelkin and Susan Lindee (1995), Frankenstein’s Footsteps by Jon Turney (1998) and Imagenation by José Van Dijck (1998). Dorothy Nelkin/Susan Lindee and The DNA Mystique Dorothy Nelkin was one of the first academics in the USA to undertake studies of science in the media and within popular culture more generally. Nelkin’s educational background was in philosophy. However, it was a study of nuclear power controversies that apparently first ‘alerted her to the range of issues emerging around the politics of expertise and the social control of science’ (Turney 2003: 497). This project launched her on a series of investigations of aspects of the relations between science and society, through research on nuclear protest, the organ trade and animal rights. In 1987 she published Selling Science: How the Press Covers Science and Technology and The DNA Mystique (co-authored with Susan Lindee)5 appeared in 1995. Nelkin’s last book – The Molecular Gaze: Art in the Genetic Age (2003) – was a posthumous publication, co-authored with the artist and art theorist Suzanne Anker (see Chapter 16 by Anker in this volume). Nelkin and her collaborators established key pointers for the analysis of media coverage of genetics. The DNA Mystique (1995) has been particularly influential. In this volume Nelkin and Lindee contended that gene imagery had intensified and become ubiquitous during the last decades of the twentieth century. They traced and analysed this imagery, suggesting how understandings of human behaviour and social issues were being shaped and recast through it. The gene, Nelkin and Lindee argued, had become a cultural icon associated with increasing use of genetic explanations for a wide variety of human problems in ways which encouraged genetic determinism. Jon Turney and Frankenstein’s Footsteps: Science, Genetics and Popular Culture Jon Turney did a PhD in social studies of science prior to becoming a science journalist. He subsequently took an academic post in science communications in the Department of Science and Technology Studies at University College, London. His book Frankenstein’s Footsteps (1998) examines how Mary Shelley’s novel Frankenstein (1918) and the figures deriving from this text gained currency in twentieth-century representations of genetics. He argued that Shelley’s story influenced not only literature, drama and film but also that it informed and helped shape public perceptions of science. Tracking the many reincarnations of the Frankenstein story, Turney contended that: ‘If we want to understand the origin of the vocabulary in which present day debates about science are conducted, we 210
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need to attend, not just to the internal development of science, but to the history of science in popular culture’ (Turney 1998: 3). Shelley, he observed, ‘produced a story which expresses many of the deepest fears and desires about modernity, especially about violation of the body’ (Turney 1998: 8). The Frankenstein ‘script’, he claimed, ‘has become one of the most important in our culture’s discussion of science and technology. To activate it, all you need is the word Frankenstein’ (Turney 1998: 6). José Van Dijck and Imagenation: Popular Images of Genetics José Van Dijck is Professor of Media and Culture at the University of Amsterdam in the Netherlands. She has also worked in the USA, both at the University of California and as visiting scholar in the Science and Technology Programme at the Massachusetts Institute of Technology. Hence, her work has been influenced by both European and American traditions of media, cultural and science studies. She is the author of a number of books, including: Manufacturing Babies and Public Consent: Debating the New Reproductive Technologies (1995) and The Transparent Body: A Cultural Analysis of Medical Imaging (2005). Her 1998 book, Imagenation: Popular Images of Genetics, explored the ‘theatre of representation’ around human genetics. She examines the contribution leading scientists, journalists, artists, writers and political activists have made in various stages of the drama of this bioscience, exploring the shifting scripts for the field from the 1950s to the 1990s. Through this framing, Van Dijck challenges notions of the diffusion of technoscientific knowledge. Instead, she invites her readers to see the complex and multiple constructions of the meanings of genetics within popular culture. The three books considered above have provided engaging frameworks and insights for research on media coverage of genetics and they have become classic texts. Since their publication, a large body of research has emerged, from a variety of perspectives, developing media studies in relation to the emerging biotechnologies of the twenty-first century.6 The next section introduces some of this work – presenting examples of the range of studies of media representations and commenting on how such analyses of texts can be complemented by work involving: (a) studies of the audience and (b) research on media production. 3.2 Analysing media representations in the new millennium Recent work around the media and genetics includes detailed analyses of images of biosciences in fiction (e.g. Kirby 2000, 2002; Jorg 2003; O’Riordan 2008; Stacey 2009), as well as a wide range of articles examining TV and press reporting. The latter includes studies focusing on: key moments in legislative debate about biotechnologies (e.g. Kitzinger and Williams 2005); hoaxes associated with human cloning and stem cell research (e.g. Haran 2007b; Kitzinger 2008; Neresini 2007; Horst 2005). major ‘breakthrough’ announcements, such as those pertaining to the mapping of the human genome (including work on media coverage of the Human Genome Project in the USA, the UK, Spain, Germany and Greece, see Anderson 2002; Calsamiglia and Van Dijk 2004; Dring 2005; Gogorosi 2005; Smart 2003; Tambor et al. 2002). 211
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Researchers have also focused on: media representation of genes ‘for’ particular traits or ‘conditions’, ranging from obesity or heart disease to criminality or homosexuality (e.g. Conrad 2001; Conrad and Markens 2001; Henderson and Kitzinger 1999; Jeong 2007; Kitzinger 2007; Sankar 2006). news reports and advertising about genetic testing, patenting or data bases and biobanks (e.g. Bowen et al. 2005; Caulfield et al. 2007; Nisker and Daar 2006; Tupasela 2007; Williams and Johnson 2004; Williams-Jones 2006). While some studies generate individual case studies, others systematically code particular time periods (e.g. one year’s coverage) or offer additional insights through a comparative perspective. This includes evaluating coverage in different countries (e.g. Reis 2008; O’Mahony and Schafer 2005), in different genres (e.g. Haran et al. 2008), during different time periods (e.g. Nerlich and Hellsten 2004; Nisbet et al. 2003; O’Riordan 2008), or even comparing topics (e.g. comparing reporting on plant genetics and on human genetics, Nerlich et al. 2000). Alongside such variety in project design, diverse methods have also been employed. Some studies of media representation are based on quantitative analysis involving, for example, indexing each time a particular ethical issue is mentioned (Kitzinger et al. 2002) or coding and calculating ‘hype’ in coverage (Racine et al. 2006). One value of such systematic work is that it can challenge assumptions about patterns of coverage and provide meaningful comparisons and measure change over time. Condit and her colleagues, for example, systematically coded the level of ‘genetic determinism’ in media coverage of genetics between 1919 and 1995. This suggested that, contrary to the claim made by Nelkin and Lindee in The DNA Mystique (1995), the discovery of the structure of DNA was not associated with any increase in ‘genetic determinism’ (Condit 1999; Condit et al. 1998: 981). Despite this cluster of quantitative work, most studies of media coverage of genetics involve some qualitative analysis (even when quantitative analysis predominates in the research). Researchers have used qualitative techniques to explore issues such as: the language used in the social construction of the genome (Kidd and Nerlich 2005), the hopes and fears associated with genomics (Petersen 2001; Kitzinger and Williams 2005; Michelle 2007; Vliverronen 2006), the use of fictional frames in representations of the field (Petersen et al. 2005) or the prominence and balance of particular discourses (e.g. Jensen and Weasel 2006). They have also examined the representation of ‘patients’, ‘children’ or ‘celebrities’, ‘expertise’ or ‘good science’ (Haran 2007a), ‘the embryo’ (Williams et al. 2003) ‘women’ (Haran et al. 2008: Chapter 5), ‘nature’ (Hansen 2006) and ‘nation’ (Chekar and Kitzinger 2007) within and around genomics. Such qualitative studies may draw on film theory or semiotics or specific theories and methods of visual or discourse analysis. Moreover, many of the examinations of news reporting use frame analysis (Kitzinger 2007). It is impossible to provide a full review of analytical methods here. Nevertheless, we have selected one approach which focuses on the analysis of metaphor, for more detailed attention. The metaphors associated with human genetics have attracted a great deal of attention. Scholars have written about the use of terms such as: ‘Pandora’s box’, ‘the Book of Life’ and ‘the Holy Grail’ (e.g. Hellsten 2000, 2005; Anderson 2002). However, one research centre which has specialised in metaphor studies is the Institute for Science and Society (formerly Institute for the Study of Genetics, 212
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Biorisks and Society), Nottingham University, UK, which was initially funded by a fiveyear programme grant from the Leverhulme Trust. The substantial body of work about metaphors and genetics that has emerged from this centre is notable for its distinctive focus and detail and, hence, it merits attention here. A leading figure in this institute and in research on metaphors and science more generally is Brigitte Nerlich. She has an academic background in philosophy and linguistics, including semantics and pragmatics. Her colleagues (and co-authors) have included, among others, Robert Dingwall (a specialist in medical sociology and socio-legal studies), Paul Martin (a molecular biologist, who has also had training in social policy and science and technology studies), David Clarke (whose main academic work is in psychology), Lina Hellsten (who has a background in media studies and STS) and Nelya Koteyko (who has expertise in corpus linguistics). These researchers works, in various combinations, to explore the impact that scientific research has on public opinion and public policy. They are generally interested in discourses and metaphors. In one of their collective publications, referring to the impact of science on public discourses, Nerlich and her colleagues contend that: Social scientists and discourse analysts have a duty to investigate how this impact is achieved, what linguistic and cultural resources are used to achieve it and to what purpose they are used. This is especially important in the field of genetics and genomics, as we deal with the ‘meaning of life’ and the future of our planet. (Nerlich et al. 2004: 364) Their stated aim is not only to contribute to debates about genetics, but also to enrich the field of critical discourse analysis and to open up ‘a new field that one could call critical metaphor analysis’ (Nerlich et al. 2004: 367). Their analysis of the coverage of the Adam Nash story (involving the first ‘designer baby’ – a child born in August 2000 in the USA) exemplifies this strand of their work. Adam’s mother underwent IVF and preimplantation genetic diagnosis in order to ensure that Adam would be able to donate stem cells to his sister, who had a rare genetic disease. His birth prompted a storm of debate about the ethics surrounding the generation of such ‘designer’ or ‘donor’ babies’. Nerlich et al. (2003) present a detailed study of the fictional narratives, metaphors and clichés through which this story was narrated. Employing the linguistic theories and methods of George Lakoff, they explore the ‘semantic envelopes’ around different terminology. They show, for example, how the term ‘donor baby’ connotes positive concepts such as gift and selfless blood donation, whereas the term ‘designer baby’ is linked to ideas of commodification and artifice. Nevertheless, these researchers demonstrate how, ‘Despite its mainly positive semantics, the concept of donor baby has assumed negative overtones’ partly because of the way the two terms (‘donor’ and ‘designer’) were linked. Their analysis traces various ways in which metaphors may operate in different practices and at different times. Fictional visions of ‘designer babies’ may ‘constrain our vision of a genetically enhanced future’, they argue, but they maintain that ‘once a new genetic technology is on the way to becoming a norm, this fictional anchor is cut loose’ (Nerlich et al. 2003: 494). They also note how journalists often used terms such as ‘designer baby’ in a ‘cautious and ironic way’ and stressed that Adam Nash was ‘neither a Frankensteinian monster nor a hatchling produced in Huxley’s human hatchery, but rather a child born after much painful thought and painful treatment’ (Nerlich et al. 2003: 494–5). 213
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Similar detailed attention to the operation of metaphors is evident in their studies of the reporting around the Human Genome Project. In analysing how Bill Clinton employed metaphors in announcing the mapping of the ‘first draft’ of the Human Genome, they argue that he attempted to ‘anticipate and deflect possible sources of opposition’ (Nerlich et al. 2002: 465). However, in other instances, they show how metaphors can take on a life of their own. Thus, for example, they demonstrate that, while the ‘Book of Life’ metaphor may seem simply to build on the idea of genes as a series of letters/words, it may also tap into images of the ‘magical revelation of the secrets of “life, the universe and everything”, or it may become a powerful metaphor for a threat to human autonomy’. Likewise, they note that when a scientist refers to clones as ‘copies’ and sees this as a neutral and technically accurate term, his/her audience who is ‘accustomed to news and science fiction stories’ may imagine these copies as ‘instant duplicates’, ‘replicas of adult humans’ (Nerlich et al. 2002: 465). 3.3 Studying audiences Audience research offers a different, sometimes complementary and sometimes challenging, angle of enquiry for those concerned with the media’s role in representing genetics. Audience work is important because, although the study of texts is associated with some powerful exploratory techniques (for example, ‘framing’ or metaphor analysis), these may be limited in what they can tell us about ‘impact’. The meaning of a newspaper article, film or TV programme can not necessarily be read simply through analysis of the text itself. There is a long history of media and cultural studies research which highlights the complexity of audience responses. Indeed, some important empirical studies show how texts are read and decoded in diverse ways by different groups of people.7 Related research highlights unexpected interpretations and appropriations (for example, an apparently ‘negative’ representation may be read positively, a seemingly ‘scary’ image may be taken as reassuring, or vice versa). Qualitative audience work also highlights the way in which people bring ‘lay expertise’ and/or ‘contextual knowledge’ to their readings of the media.8 (See Kitzinger 2004: Chapter 2.) Research exploring how audiences make sense of media representations of genetics can help to develop a richer picture of how media work. It may challenge assumptions and can also test, or refine, textual analysis.9 It might also help to address conflicts in interpretation. For example, different analysts take divergent views on the implications of media coverage of hoaxes about human reproductive cloning. For Nerlich and Clarke (2003), for example, ‘The debate [about maverick scientists pursuing human cloning] … increased fears about the ethical, legal and medical risks associated with human cloning’ (Nerlich and Clarke 2003: 44). By contrast, Haran (2007b) presents a detailed textual analysis which contends that the reporting on such maverick scientists may offer ‘reassurance rather than alarm’ about mainstream scientific endeavours. Research into how audiences actually recall and work with news reporting of cloning hoaxes would be a fascinating study in its own right and this could help to cast more light on these conflicting textual readings. Existing audience research around the media coverage of genetics has produced questionnaire, interview and focus group data examining issues such as: the effects of news stories that offer gene-based explanations of obesity – and how these impact on ideas of blame and responsibility (Jeong 2007); 214
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how people engage with dramatic representations of the ‘family curse’ of inherited breast cancer – and whether this influences their assumptions about the role of inherited risk (Henderson and Kitzinger 1999); the impact of messages about genetics on attitudes to racial and genetic discrimination (Lynch et al. 2008); how people respond to TV drama-documentaries about stem cell research – and whether they can distinguish ‘fact’ from ‘fiction’ (Reid 2008). Such research can demonstrate anticipated patterns of media impact, but it can also challenge claims made on the basis of textual analysis alone. For example, despite the assertion that science fiction references in the media feed into fear of biotechnology (e.g. see Nerlich and Clarke 2003), empirical analyses of how audiences respond suggest that the pattern of response is not so straightforward. Although science fiction may be a resource for individual and collective imaginations, the nature of fictional narratives in general, and the genre of science fiction in particular, have a complex and ambivalent status (sometimes feeding, as Nerlich herself has shown with respect to nanomedicine, into more positive and promissory stories about technological advances (Nerlich 2008). Most people do not usually accept science-fiction scenarios wholesale. In fact, when references to science fiction are used in discussion they are often used to discredit fears and even to dismiss them as ‘stupid’ or ‘emotional’ (Hughes and Kitzinger 2008). Similarly, empirical work on responses to metaphors may challenge some assumptions about their impact. As noted previously, Condit and her colleagues used both quantitative and qualitative methods to investigate the impact of headlines which have been regarded as promoting genetic determinism. They found that metaphors such as ‘the genetic recipe’ or ‘the genetic blueprint’ were far more ‘pluripotent’ and ambivalent than is often assumed. Condit et al. conclude that their findings do not require the replacement of critical study of texts with audience research but that ‘audience research can provide one rich resource for thinking about the meaning of metaphors’ (Condit et al. 2002: 325). 3.4 Looking at the production process Finally, it is important to recognise that some research into the media coverage of genetics goes beyond the text and the audience, by examining the production process. This can include studies of the use of sources in reporting, (e.g. the press releases and scientific articles which prompt news reporting) and it sometimes entails interviewing press officers, scientists and journalists (and other key figures in media production). This research addresses questions such as: How is expertise conceived and how do journalists select the experts they consult? (E.g. Petersen 1999.) How do factors such as news values, organisational identities and editorial priorities impact on reporting of key events such as reporting of the Human Genome Project or the cloning on Dolly? (E.g. Henderson and Kitzinger 2007; Holliman 2004.) How does the political economy of the media industry, the dynamics in the newsroom or the values and practices of journalists and their sources, impact on the representation of genes (Wilcox 2003) or stem cell research in news coverage? (E.g. Jensen 2007.) 215
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How might the production values, genre conventions and conditions of programme making help shape a TV drama-documentary about cloning? (E.g. Reid 2008.) Such research is vital in tracking specific forms of mediation in the representation of genomics and other sciences. It can address economic questions (such as the impact of advertising revenue on editorial decisions) and facilitate critical examinations of key aspects of the media industry and of journalistic culture. Depending on the perspective adopted by the researcher, it might also increase collaboration and trust between scientists and journalists, and ‘improve’ reporting (e.g. Geller et al. 2005) or expose ‘collusion’ and public relations influences. For example, such research might ask whether the media were responsible for ‘hype’ or whether scientists and policy makers also contributed to ‘playing up’ the potential of human genetic research.
4 Conclusion Journalists are trained to report events by addressing questions such as who, what, when, how and why. In some ways we have pursued a similar approach in our review of research on media and human genetics. However, we have tried to do this, in a way which focuses on the context of the research and on the process of production, rather than on research findings in isolation. We have thus not only reviewed the research findings, but also examined how the work was funded and the background of those who have undertaken the research. Hence, we have been able to draw attention to the context of policy priorities, as well as highlighting the theoretical frameworks employed, the disciplinary and political backgrounds of the researchers and some key aspects of project design, methodology and analytical approach. Research on human genetics and the media has become a crossroads for encounters and clashes amongst many different disciplinary (and sub-disciplinary) traditions, distinctive interests and diverse kinds of intellectual and political enquiries. Complex political, methodological and theoretical issues are at stake in these research settings. We hope that we have equipped readers to critically assess research questions, design and findings in this field and exposed them to some of the complex and nuanced pattern of this research terrain.
Notes 1 For examples, see the activities/research conducted by the Policy, Ethics and Life Sciences Research Centre in Newcastle, www.ncl.ac.uk/peals/. 2 The private medical charity the Wellcome Trust complemented UK government support for public engagement in science. Since the mid-1990s, this Trust has invested around £100 million in ‘public engagement activities’, much of it revolving around genetic and stem cell research (Walport 2006: 3). The Trust has also funded several projects investigating media coverage of this field (see www. welcome.ac.uk). 3 The background and experience of the authors of this chapter illustrates this. One of us (JK) did a first degree in social anthropology, then worked in a social and political sciences department before moving to the Glasgow Media Group (which has a reputation for its radical critique of news media). She now works at the Cardiff University School of Journalism, Media and Cultural Studies (which has a strong critical research tradition but which also runs a highly respected journalism course). JK’s
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work includes empirical research and activism around issues such as AIDS (Miller et al. 1998) and sexual violence (Kitzinger 2004).In this sense, her research has links with health education, professional education and social justice issues. The other co-author of this chapter (JH), has worked in public relations and she also has a background in feminist technoscience and cultural studies research. She has been a writer on and organiser of events focused on science fiction, as well as having a strong grounding in social studies of science and technology. She is currently a senior researcher in Cesagen, the ESRC-sponsored, multi-disciplinary research centre for the study of economic and social aspects of genetics at Cardiff University. Both of us have been contract researchers, and funding for our research on genetics and the media has come from the Health Education Authority, the Wellcome Trust, and, most substantially, the ESRC. This is not a comprehensive list. We would note, for example, that the sociology of medicine has established itself as a distinctive discipline, or perhaps, more accurately, as a sub-discipline. Some of the most interesting genetics research within this tradition includes investigations of how the body is envisaged with reference to genetics or genomics or of how genetic counsellors interact with clients. Susan Lindee is a former journalist who subsequently studied the History and Philosophy of Science and who is also author of Moments of Truth in Genetic Medicine. Professional science and medical journals often publish short articles by scientists reviewing press headline stories, films and other media output to protest against what they regard as misrepresentations or instances of inappropriate attention. Some of these articles do provide useful insights, but their quality varies tremendously. Some are simply opinion pieces which criticise particular films or headlines, often with little acknowledgement of the context of the article or with little or no awareness of the cinematic tradition in which these representations appear. For critiques of examples of this type of representation see Kirby 2000: 13; Haran 2007a; Kitzinger, in press. Building on Stuart Hall’s classic ‘Encoding/decoding’ theory (Hall 1973), Reid explored such issues in her study of audience reactions to a specific programme about stem cell research. She found that some viewers ‘read’ or ‘responded’ to the message in a different way from that intended by the programme producers (or from that which derives from an analysis of the programme narrative). Her work also highlighted the diverse ways in which different audiences might engage with the same statement. For example, Reid examined how people responded to a particular statement by an ‘expert’ who appeared in the programme, highlighting the incongruence between the time-limit for abortion and the time-limit for stem cell research. She found that some viewers deployed a statement about this incongruence (almost verbatim) to argue for a reduction in the time-limit for abortion. However, others employed it to argue for raising the time-limit for embryo stem cell research. Detailed quantitative work may also throw into question assumptions about media impact. Ten Eyck conducted a systematic study examining the press coverage and surveys of public attitudes toward genetics and biotechnology. He concludes: ‘Given the multivalent characterisations of the media and the interpretive filters used by audiences … even strong slants by the presumed opinionleading press [e.g. the New York Times] do not predict public opinion on a nascent issue such as biotechnology.’ His research led him to conclude that: ‘While some reflections do appear between the media and public opinion, closer observations show these mirrors to be ephemeral’ (Ten Eyck 2005: 305). Another strand of research which studies the audience is concerned less with actual audience responses than with how an inferred or ‘imaginary’ audience is invoked in policy and media reports (and everyday talk). This includes, for example, reflections on how the public is evoked as ‘citizens’, ‘patients’ or ‘women’ in consultation documents and media accounts (Haran et al. 2008: Chapter 7).
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Nelkin, D. (1987) Selling Science: How the Press Covers Science and Technology. New York: W.H. Freeman. Nelkin, D. and Lindee, S. (1995) The DNA Mystique: The Gene as Cultural Icon. New York: W.H. Freeman. Nerlich, B. (2008) ‘Powered by imagination: nanobots at the Science Photo Library’, Science as Culture, 17, 3: 269–92. Nerlich, B., and Clarke, D. (2003) ‘Anatomy of a media event: how arguments clashed in the 2001 human cloning debate’, New Genetics and Society, 22: 43–59. Nerlich, B. and Hellsten, L. (2004) ‘Genomics: shifts in metaphorical landscape’, New Genetics and Society, 23, 3: 255–68. Nerlich, B., Clarke, D. and Dingwall, R. (1999) ‘The influence of popular cultural imagery on public attitudes towards cloning’, Sociological Research Online, 4, 3; www.socresonline.org.uk/socresonline/4/ 3/nerlich.html (accessed 15 October 2008). Nerlich, B., Clarke, D. and Dingwall, R. (2000) ‘Clones and crops: the use of stock characters and word play in two debates about bioengineering’, Metaphor and Symbol, 4: 223–40. Nerlich, B., Dingwall, R. and Clarke, D. (2002) ‘“The Book of Life”: how the completion of the human genome project was revealed to the public’, Health: An Interdisciplinary Journal for the Social Study of Health, Illness and Medicine, 6: 445–69. Nerlich, B., Johnson, S. and Clarke, D. (2003) ‘The first “designer baby”: the role of narratives, clichés and metaphors in the year 2000 media debate’, Science as Culture, 12: 471–98. Nerlich, B., Dingwall, R. and Martin, P. (2004) ‘Genetic and genomic discourses at the dawn of the 21st century’, Discourse and Society, 15: 363–8. Nisbet, M., Brossard, D. and Kroepsch, A. (2003) ‘Framing science – the stem cell controversy in an age of press/politics’, Harvard International Journal of Press–Politics, 8, 2: 36–70. Nisker, J. and Daar, A. (2006) ‘Moral presentation of genetics-based narratives for public understanding of genetic science and its implications’, Public Understanding of Science, 15, 1: 113–23. O’Mahony, P. and Schafer, M. (2005) ‘“The Book of Life” in the press: comparing German and Irish media discourse on human genome research’, Social Studies of Science, 35, 1: 99–130. O’Riordan, K. (2008) ‘Human cloning in film: horror, ambivalence and hope’, Science as Culture, 17, 2: 1–18. Petersen, A. (1997) ‘Biofantasies: genetics and medicine in the print news Media’, in D. Light (ed.) Comparative Studies of Competition Policy. Toronto: Pergamon, pp. 1255–68. —— (1999) ‘The portrayal of research into genetic-based differences of sex and sexual orientation: a study of “popular” science journals, 1980 to 1997’, Journal of Communication Inquiry, 23: 163–82. —— (2001) ‘Biofantasies: genetics and medicine in the print news media’, Social Science and Medicine, 52: 1255–68. —— (2002) ‘Replicating our bodies, losing our selves: news media portrayals of human cloning in the wake of Dolly’, Body and Society, 8: 71–90. Petersen, A., Anderson, A. and Allan, S. (2005) ‘Science fiction/science fact: medical genetics in news stories’, New Genetics and Society, 24, 3: 337–53. Racine, É., Gareau, I., Doucet, H., Laudy, D., Jobin, G. and Schraedley Desmond, P. (2006) ‘Hyped biomedical science or uncritical reporting? Press coverage of genomics (1992–2001) in Quebec’, Social Science and Medicine, 62, 5: 1278–90. Reid, G. (2008) ‘Replicating opinions? Cross-cultural responses to a docudrama about human cloning’, unpublished PhD thesis, Cardiff University. Reis, R. (2008) ‘How Brazilian and North American newspapers frame the stem cell research debate’, Science Communication, 29, 3: 316–34. Royal Society (2004) Report of the BSE Enquiry. London: Royal Society. Sankar, P. (2006) ‘Hasty generalisations and exaggerated certainties: reporting genetic findings in health disparities research’, New Genetics and Society, 25, 3: 249–64. Shakespeare, T. and Kerr, A. (2002) Genetic Politics: From Eugenics to Genome. Cheltenham: New Clarion Press. Smart, A. (2003) ‘Reporting the dawn of the post-genomic era: who wants to live forever’, Sociology of Health and Illness, 25: 24–49.
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Smith, C. (2006) ‘Stripping down science to the bare essentials: the bare-faced cheek of how medicine turned into media’, in J. Turney (ed.) Engaging Science: Thoughts, Deeds, Analysis and Action. London: Wellcome Trust, pp. 32–43. Stacey, J. (2009) The Cinematic Life of the Gene. Raleigh, NC: Duke University Press. Tambor, E., Bernhardt, B., Rodgers, J., Holtzman, N. and Geller, G. (2002) ‘Mapping the human genome: an assessment of media coverage and public reaction’, Genetics in Medicine, 4: 31–6. Ten Eyck, T. (2005) ‘The media and public opinion on genetics and biotechnology: mirrors, windows or walls?’ Public Understanding of Science, 14: 305–16. Tupasela, A. (2007) ‘Re-examining medical modernization: framing the public in Finnish biomedical research policy’, Public Understanding of Science, 16, 1: 63–78. Turney, J. (1998) Frankenstein’s Footsteps. London: Yale University Press. —— (2003) ‘Dorothy Nelkin: obituary’, The Lancet, 362, 9382: 497–497. —— (ed.) (2006) Engaging Science: Thoughts, Deeds, Analysis and Action, London: Wellcome Trust. Van Dijck, J. (1998) Imagenation: Popular Images of Genetics. London: Macmillan. —— (1999) ‘Cloning humans, cloning literature: genetics and the imagination deficit’, New Genetics and Society, 18: 9–22. Vliverronen, E. (2006) ‘Expert, healer, reassurer, hero and prophet: framing genetics and medical scientists in television news’, New Genetics and Society, 25, 3: 233–47. Walport, M. (2006) ‘Foreword’, in J. Turney (ed.) Engaging Science: Thoughts, Deeds, Analysis and Action. London: Wellcome Trust. Wilcox, S. (2003) ‘Cultural context and the conventions of science journalism: drama and contradiction in media coverage of biological ideas about sexuality’, Critical Studies in Media Communication, 20, 3: 225–47. Williams, C., Kitzinger, J. and Henderson, L. (2003) ‘Envisaging the embryo in stem cell research: rhetorical strategies and media reporting of the ethical debates’, Sociology of Health and Illness, 25, 7: 793–814. Williams, R. and Johnson, P. (2004) ‘“Wonderment and dread”: representations of DNA in ethical disputes about forensic DNA databases’, New Genetics and Society, 23, 2: 205–23. Williams-Jones, B. (2006) ‘“Be ready against cancer, now”: direct-to-consumer advertising for genetic testing’, New Genetics and Society, 25, 1: 89–107.
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16 Cultural imaginaries and laboratories of the real Representing the genetic sciences Suzanne Anker
Introduction In the wired world of coded connections, zeros and ones exert a daunting pictorial presence. From glamour glossies to public relations wars, from selling sex to the promises of noble sciences, to art as million-dollar kitsch, digital images endlessly spiral, circumnavigating the global sphere. As ‘signs in action’, what compelling narratives do they distinctly embed? Yet in media-driven societies engaged in and dependent on symbolic pictorialisations, how do these representations operate as part of a mutating cultural imaginary? One may consider the concept of the cultural imaginary as an over-arching term sinuously defined as ‘those vast networks interlinking discursive themes, images, motifs and narrative forms that are publicly available within a given culture at any one time, and articulate its psychic and social dimensions’ (Dawson 1994: 48). For cultural historian Graham Dawson ‘cultural imaginaries furnish public forms which both organise knowledge of the social world and give shape to fantasies within the apparently “internal” domain of psychic life’ (Dawson 1994: 48). In addition, these symbol sets can be termed critical fictions and may be located somewhere between illusion, proof and cognitive projection. Constituting a semblance of a ‘collective data-base’, the cultural imaginary traverses contested territories associated with either verifiable axioms or fanciful story telling. These visualising models, employed by artists, scientists, designers, corporate advertisers, journalists and/or politicians, clarify, mislead, aggrandise, stimulate or document. In short, they are representations embedded in social structures, policy decisions and commercial ventures. As aesthetic devices they perform their semiotic function of activating thought and emotion through their powers of communication and circumscribed belief (Anker 2004). Visual representations and their attendant sign systems, however, are not necessarily self-evident and in some cases seeing is, in fact, not believing. Hoaxes, illusions, sleights of hand, all part of image manipulation, are constituent elements of visuality’s deceptive regime. In other circumstances, visual interpretation is compounded by complex degrees of connoisseurship associated with astute visual understanding, explicitly due to an image’s power to evoke audience response. Furthermore, the study of these symbolic 222
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entities requires an analysis and contextualisation historically anchored in the cultural imagination. Pictorial devices, composed of formal aesthetic elements such as line, colour, light, space, scale and texture are functionally ‘performative’ ingredients in picture-narration. In the interactive media arts these elements can be reconfigured in real-time thereby amplifying potential modes of visualisation, illustration and simulation. Each style of representation carries within its aesthetic domain a distinctive yet culturally grounded set of values. Empirically situated in a network of discovery, scientific images and their related research data, are currently being integrated into an aesthetic realm. A basic reading of scientific images in their historical contexts renders it evident that these visual tropes are products of scripted visual communication systems and networks of fluctuating and competing discourses. These visual knowledge-producing vehicles emerge out of an amalgam of semiotic, technological and stylistic variations nuanced by their co-evolving actuality. Highly sophisticated visualisation tools and techniques have become an integral part of the early twenty-first century scientific laboratories and their cultural milieu. State-ofthe-art images are created through the use of Photoshop filters, multidirectional lighting effects, re-calibrated colour contrasting and post-production editing. Perhaps more than any other contemporary technical device, digital images have become a lingua franca of communicating systems, and these extend to digital mammograms and in-utero foetal sonograms. Added to this mix of technological developments around imaging is the connective transport provided via the World Wide Web, through which images traverse silicon networks at astonishing speed, thus affecting our consciousness and ethical bearing. In the early twenty-first century, scientific images, like popular culture icons, are increasingly entering the public realm. This migratory manifestation of the visual has, for scholar W.J.T. Mitchell, created a ‘social field’ of images, which underscores the ‘pictorial turn across disciplines’ (Mitchell 2005: 76–89). As artists engage with scientific iconography within their aesthetic practices, scientists employ visual images to illustrate material processes and to improve evidential comprehension. While visual art’s expressive modes often rely on historically deterministic visual connections, picturing in scientific practice is more explicitly causal or mechanistically bounded. In short, coded images, in full-colour regalia, have become part of new media installations, art and fashion magazines, Hollywood films and special effects, as well as extensively servicing the corporate culture of contemporary science and the laboratory sciences themselves. Developments in ‘picture science’ are also attracting scholars to cross-disciplinary intersections. For example, the interdisciplinary research group investigating The World as Image at the Berlin-Brandenburg Academy of Sciences and Humanities studies ‘visual representations of world concepts and the analysis of scientific representations and models’ (see www/bbaw.de). Images, within this context are looked at as vehicles of historically produced world views encompassing variegated disciplines such as: art history, social history, astronomy, cartography, philosophy, et al. The scholars in this group examine the limitations and functions of visual artefacts in terms of what they both express and deny about a given culture. For example, in the seventeenth century, a revision of the number of continents required that a world map be reconfigured to account for the European ‘discovery’ of additional land mass. This change in the number of landmasses had deep religious consequences since it posed the necessity for a reinterpretation of the relationship of ‘kings’ to ‘continents’. What this kind of research tells us is that, within symbolic world making, there are contingent psychological, philosophical and even cosmological assumptions requiring articulation.1 223
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In this essay we will examine the ways in which pictorial practices are employed by both artists and scientists and the differing modalities in which these images can be said to create knowledge. We consider images as operative cultural filters uncovering myriad public concerns regarding our genetically altered and tissue-engineered future. What kind of questions, ethical and otherwise are posed by these representational practices?
Image science and the concept of species The production of images and objects (along with language) are human traces of cognition, agency and subjectivity. Although operating within the illusory, these critical fictions, nevertheless, are crucial for knowledge construction. By substituting constituents of form and space into signs, the visual artist and the scientific researcher create what can be termed ‘symbolic models of the real’. Through the use of pictorial representations, emotional, cognitive and ideational responses can be portrayed, invoked and communicated. Pictures, maps, diagrams, drawings, notations, photographs and software programmes have become, for the present, a mirror of thought (Anker 2008). Recently pictorialisations have taken extraordinary leaps in the conception, precision and subsequent distribution of their graphic output. For example, expanding on the concept of a visual field, the Atomic Force Microscope employs touch to fabricate visual portrayal on a nano-scale. Imaging the previously unseen structure of the double helix in 1990 is but one of the achievements of this innovation (Whittemore 1998). In this apparatus, a probe makes contact with a specimen, scans it, and sends back data to a standard computer screen. The resulting reconfiguration is formulated as a picture. This touch-to-sight translation exemplifies the manner in which standard definitions of the visual are being transformed (Whittemore 1998). Although a comprehensive analysis of the ontology of visual representation is beyond the scope of this chapter, for the purposes of our discussion, let us parse some of the differences in kind between types of visual representations. We will cite some of the core differences between illustration, simulation and the kinds of images generated within a discourse of ‘critical art’. Overlapping in various degrees, aesthetic strategies in each case aim towards differing trajectories. Illustration is, in a broad sense, a way of telling a story. To illustrate is to bring the visual in line with a narrative. In advertising, for instance, words ground pictures to amplify a message, targeted to a specific demographic cohort. Promotion strategies range from subliminal identification of the viewer through the play of a specific image, to endless repetition of images which focus likenesses that impersonate projected consumer needs. Such mirroring is employed to attract customers, to garner political votes or religious followers, and for other purposes. Television, with its dynamic rhythms of sound, colour and spliced geographical locations, becomes an increasingly significant visual tool embedded in persuasion. In magazine articles of all types, photography is employed in an illustrative mode, referencing visual symbols in ways that focus readers’ attention. Simulations, on the other hand, are types of modelling experiments employed in order to ascertain or predict outcomes. In essence they are theoretical frameworks which imitate the processes and manifestations to be investigated. They are in fact representations of a proposition worked out with a computer software program. An integral part of both art practice and scientific modelling, simulations are employed as facsimiles, in order, for example, to forecast weather patterns or to imagine what could happen after genetic 224
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splicing and chemical reactions take place. Furthermore, computer simulations, originally developed for the Manhattan Project, during WW II, have migrated from the sciences to the visual arts, architecture, design and animated film. A diverse range of simulating projects are being advanced. One of these is GNOM (see www.moebio.com/santiago/gnom/english.html), a group of designers and artists working on visualising protein, DNA and RNA interaction as networks of informationaesthetics. Graphic artists and scientific researchers share computer and sound simulations concerning the genetic behaviour of ventral or dorsal axons in developmental embryonic stages. Simulations enable the patterning of elaborate models for learning about organic life through the generation of virtual systemic counterparts. The most informative developments indicate that visual artists are engaged in generating critical reflections on the aesthetics of simulation and their effects on representation generally. Within the category of ‘critical art’ practice, however, other aspects of image production are in play. Illusion, ambiguity, irony are some of the tropes present in this domain. Self-effacement, horror and playful humour are also characteristics of this field. Emphasis is placed on multiple coding (polysemous meaning) and cultural critique within critical art making of this nature. Content, with regard to these works, is self-generated and evolves in a larger narrative somehow in tandem with historical backdrops. The artist’s free choice in this sense is what makes this kind of work radiate with autonomy. In a way, we can return to Kant’s ‘disinterested interest’ to explain the function of aesthetic experience. Driven by heuristic experimentation and inventive conceptions about giving shape to thought, art and science share an overlapping technological base (Wilson 2003). However, augmenting reality, a trait native to the practice of art is far more questionable when it ruptures science’s need of veracity. Over the last two decades pictures in science and scientific journals have dramatically increased in number, style and chromatic intensity. With regard to their artefactual stature what ‘truth value’ does an altered picture in science posses? These visual exemplars are frequently Photoshopped, colourised and recontextualised through cropping. Julio Ottino, a chemical engineer, suggests that there is a need to establish specific guidelines for the manipulation of scientific images and that such alteration should be keyed as a form of picture map (Ottino 2003). Visual communication has emerged as a constituent force in a globalised world. From branding tropes to media spin, the control of the ‘image’ is fervently contested. The analysis of how images function raises profound questions concerning the new biotechnologies and their impact on social environs. However, interpreting pictures is rife with complication. A factor that separates a work of art from other visual forms is visual art’s capacity for ambiguity, which means it is a specialised artefact conveying multiple contradictory messages, simultaneously. Taking a cue from noted biologist Ernst Mayr, W.J.T. Mitchell introduces the term ‘species’ into an ‘image science’ discourse. Pictures, for this author, can be regarded as species traversing the natural history cycles of birth, maturation and death. The concept of taxonomic species is particularly intricate even in the biological world. Mayr, for one, has even argued that the species concept, insofar as it presumes reproductive isolation of one group of organisms from another, is actually confined to sexual organisms, and does not apply to asexual organisms such as some plants or insects which are referred to as ‘paraspecies’ or ‘pseudospecies’. 225
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Mitchell contends that ‘if images constitute a second nature within culture, we should not expect their taxonomies or family groupings to be any simpler than the first’ (Mitchell 2005: 76–89). For our purposes Mitchell’s framing is important for two reasons. First, it addresses the concept of species in relationship to transgenics and, second, it regards the visual field as comprised of classification systems or types.
Transgenics: technoscientific developments In this section we focus on the picturing and practices of transgenics as a formidable subject in the visual arts and biological sciences in the twenty-first century. We examine variations in discourses that are encountered within artistic visualisations, corporate advertising and scientific illustrations. We will also cite the mechanisms and methodologies of the science itself as well as the bio-ethical issues they reflect. In effect, a transgenic organism is a mixed species, a hybrid, combining the hereditary material of discrete living forms. Within sexual reproductive mechanisms, such DNA could not be combined to create viable offspring. However by forging novel DNA technologies, such as recombinant DNA, interruptions in nature’s selective breeding schema become possible which, in turn, probes the philosophical conundrums between the folding in of culture onto nature. We will begin this discussion by looking at the science itself. Transgenics is defined as: the alteration of plant or animal DNA so that it contains a gene from another organism. There are two types of cells in animals and plants, germ line cells (the sperm and egg in animals, pollen and ovule in plants) and somatic cells (all of the other cells). It is the germ-line DNA that is altered in transgenic animals and plants, so those alterations are passed on to offspring. (www.mindfully.org/GE/How-Transgenics-Produced-FDA1999.htm; Wright 1994) Recombinant DNA technology, pioneered by Norman Cohen and Herbert Boyer in the 1970s, made it possible to splice, amplify and insert genetic materials that transgressed species boundaries. The first recombinant DNA technology developed by these research scientists involved the process of pronuclear microinjection, a method involving the injection of genetic material into the nuclei of fertilised eggs. Following this process of infiltration, DNA becomes incorporated into the living cell’s genome. The transformed fertilised eggs are then injected back into pregnant females and brought to term. This method makes it possible to engineer a host of desired traits in the production of ‘designer’ laboratory animal models thus reengineering animal and plant agricultural products for consumption. For decades scientists had tried to create tools that allowed for precise control over specific genes in order to study their function. Of course, a major problem with this technique was that researchers could neither predict nor control where in the genome the foreign material would be inserted. Thus, wildly varying phenotypes were a possibility leaving too much uncertainty to chance. However, an innovative solution to this quandary was originated by a team of research scientists led by Martin Evans, Oliver Smithies and Mario Capecchi who created what is 226
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now commonly known as a genetic ‘knockout’. This method gave scientists the ability to extract, replace, or knockout, a specific gene in the embryonic stem cell stage and to create what is technically now called ‘a mutant’. For example, as a knockout mutant in zebra fish (a fish which is often used to study retinal disease in humans) a specific gene of interest is removed in an attempt to ascertain what effect that gene has on the life and behaviour of that organism. It is a precise means to measure the causal factors between genetic markers and phenotype expression and is well suited for studying certain diseases such as cancer, obesity and immune system disorders. Furthermore, newly discovered genes are often associated with unfamiliar functions. Currently, a creative part of biotechnology is the construction of interactive visual tests, which can aid scientists in identifying the relationship between the ‘knockout’ and its resultant consequence.2 On the medical front, ‘mutants’ can provide novel insights into the causes and transmission of disease which can help identify undiscovered targets for curing these ailments. However, it is precisely the ‘mutant’ condition of these creatures that captures their essence as monsters in the public’s perception of altered nature. Manipulated transgenic entities come in a variety of forms, but they can also occur naturally in bacteria or multi-cellular organisms. In fact, biological processes that would have been dismissed as science fiction until just a few years ago are now documented as naturally occurring. The movement of genes between unrelated species for the sake of sensationalism rarely occurs in science. Mythical creatures and all their diverse paraphernalia are, in fact, related to newfound lateral transfer technologies. These technologies create a wealth of applications in pharmaceuticals, biomedicine and agriculture. In addition, lateral transfer has altered our notion of production, reproduction and industrialisation as it informs a post-genomic global complex.
Transgenics and visual art Capturing the imagination of the public at large, transgenic entities abound in both anomalous mythic and perennial life forms. Within mythology, the disruption of traditional taxonomies has had an unabridged history: from the classic fire-breathing shemonster, to the flying horse Pegasus, to humanised animals and cartoon characters. With its plethora of images and references from mythology, art history, popular culture and more recently biology, the ‘chimera’ has emerged to represent more than an entity of incongruous parts. Moving from the imagination of the ancient world into the annals of science, the chimera has become a genetic term used to describe organisms composed of diverse genetic species. As a form of taxongenomic crash, the cells or tissues of one organism are inserted into another, creating novel combinatory oddities: tomato/flounder, firefly/tobacco, pig/human. This list is just a sample few of the specimens that have been brought to life. What was once only a hypothetical fabrication of the mind may now be realised as a living creature. Clearly social, political and economic anxieties brought about by the fabrication of chimeras abound, and visual artists have responded to these developments with their own anxious visions. Indeed, precisely because of the somatic intensity of their designs, visual artists often play a role in communicating the fears and hopes of the public at large. For example, Thomas Grunfeld, a contemporary German artist, has created a menagerie of chimerical characters. Employing discarded carcasses that have been resurrected from taxidermy specimens, Grunfeld’s sculptural constructions bring together displays, which 227
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have affinities with H.G. Wells’ ‘The Island of Dr Moreau’ (1896). In Grunfeld’s creations and Wells’ 1896 short story, the features associated with one animal are combined with those of another species to create life-size and life-like chimeras. Grunfeld’s menagerie is collectively designated under the species label Misfit. As in Linnaeus’ classification system, the artist implements a binominal naming practice, with the first name referring to species and the second referring to genus (for example, Misfit (Cow) or Misfit (Flamingo)). Resonating with a register somewhere between big game trophies so prominent during the colonial period and the kinds of popular visions generated in sci-fi tales (see Altstatt 1998), these provocative sculptures hit a nerve. In one exemplar, Grunfeld replaces a St Bernard’s head with that of a sheep, thereby literally creating a sheep–dog. However, Grunfeld’s sheep–dog is not alone, since the array of new life forms generated in recent years (this time in the lab) have included the following mixes: transgenic pigs expressing plant genes (see Niemann 2004), a salmon gene that speeds up its growth cycle and physical size and, of course, the model mice, including Oncomouse. Grunfeld’s sculptural assemblages are at once striking and pitiful. They are extraordinary in their accuracy and pathetic because of their lack of utility. Morphology, a determining factor in locomotion, is often thwarted in these new chimeras: when a swan has the carcass of a hoofed animal, its days of gliding on water are over. Other combinations by Grunfeld cross a peacock with a kangaroo, a cow with a bird, and so on. Because these sculptures are constructed from actual specimens they are uncannily lifelike. A nip and a tuck, a snip and some luck, the resulting configuration creates body types akin to Dr Seuss’s Horton Hatches an Egg. In this children’s story we meet a lazy bird, Daisy, who coerces an elephant to sit on her egg until it hatches. When the egg finally erupts, the resultant offspring is an elephant with wings. Although Lamarckian in nature, this tale nevertheless resonates as a story about mixed species. Working within the theme of lateral gene transfer, Jon McCormick, an Australian artist, utilises transformative representations of crossed plant species in his work (see www.csse. monash.edu.au/~jonmc/; www.csse.monash.edu.au/~jonmc/research/inHome.html). McCormick employs the same kinds of 3-D animation tools that scientists use to illustrate the process of egg infiltration in genetic engineering. In his latest work, Eden, an interactive, self-generating, artificial ecosystem, virtual creatures are composed from rocks, biomass and sonic animals. They move about the environment, articulating and listening to sounds, foraging for food, encountering predators and possibly mating with each other. For McCormick, transgenics is a wild, wonderful but dangerously out of control paradoxical endeavour. While interpretations of transgenics by some artists can border on the literal, others swing from the gates of fiction. If ethical debates about transgenic practices enter the public domain through art (preferably without the interference of religious morals) can this yield edifying discussions illuminating progressive and inventive analysis?
Transgenics, advertising and diagramming Within the realm of product advertising in science journals a host of visual tropes attract consumers and underscore the claimed features of the product for sale. A recent advertisement in Nature (inside front cover, 15 November 2007) is exemplary of the multitude worth deciphering. The advertisement introduces a young man with his back turned 228
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towards the viewer. He is standing on a pedestal, located in a windowless space and he reaches out to touch individual graphic phrases denoting sequences of genes, each labelled by an alpha-numerical code. In response to our protagonist’s gestural touch, a precise gene sequence lights up, much like the new touch-activated cash registers in restaurants and bars. He sports a casual company t-shirt on which the logo YFG, Your Favorite Gene, the corporate branding for the Sigma-Alrich company, appears. Your Favorite Gene, the advertisement recounts to readers, is a ‘search tool that matches your gene of interest against thousands of research products available from Sigma’. Since the technology of transgenics relies on knowledge of specific genes, this advertisement holds out to scientists their hope of an attainable and enduring discovery. In another product advertisement, placed by Origene, a full-page image of a masted ‘ship in a bottle’ is displayed (Nature, 8 November 2007). Enchanted by the seeming impossibility of this crafty ruse, viewers may be amused (as they always are) by this uncanny artefact. Here the advertisement offers the commentary: ‘You’ll wonder how we got it all in there.’ The advertisement purports that the company takes pride in being ‘the only source for most long and difficult genes’. The visualisation techniques which chart transgenic research diagrams, a staple of scientific representation are also worthy of note (see CMC Activity Center example, www. cellmigration.org/resource/komouse/knomouse_approaches.shtml). Following a stepby-step trajectory, gene targeting and the procurement of ‘conditional knockouts’ appear in the form of a rebus. As a vertical equation, the chart in this example begins with a molecular diagram of a mouse genome. The reader is then directed to descend the equation’s inverted pyramidal form, where the ‘linearised targeting vector’ is positioned to intrude into the mouse genome. As we continue our reading, we encounter discrete targeted alleles, which in turn generate molecular chimeras, before finally reaching mice bred with the targeted allele. This kind of representation presents transgenics as a clearcut crisp recipe, a mathematical matter, involving simple substitution within an equation.
Transgenics: issues and reflections What is important to note in the examination of these examples of recent advertising and diagramming as it pictures genetic technology is that it is completely devoid of risk. Phenotypical aberrations as consequences of genetic alterations are only manifest in the artistic representations, as reflective filters of the cultural imaginary. Scientific corporations commissioning their advertisements of course act in their own self-interest and how-to research notes are intended for aspiring scientists to follow. In fact, this material conveys messages about the ease with which these products and methods will be utilised. Fear, however, is nevertheless at the forefront of the public imagination, as ‘crossed species’ are often viewed as contaminants, as endangering ‘wild types’ and as generally threatening ‘the natural order’. How can we account for this disconnect? Is it merely a condition of advertising that media’s charge is the communication of messages rather than the content of the message itself, or is there something else in place? How do we ethically assess the nature of laboratory fabricated animals and plants? What nomenclature is appropriate for them? Where do they reside in the evolutionary gene pool? Termed bio-facts by German philosopher Nicole Karafyllis (2007; 2008a; 2008b) these entities combine life forms and artefacts. What moral, ecological and ontological concerns are at stake with reference to these sentient living beings? For 229
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Karafyllis, the ‘neologism biofact [is] a hermeneutic concept, which allows one to inquire into the differences between “nature” and “technology” in the domain of the living’ (Karafyllis 2007: 141–52). Arguing that these differences do, in fact, still hold true today, as they did for Aristotle, but ‘the distinctions have become much more hidden than before.’ For Karafyllis, a critical point becomes the invisibility or what she terms the ‘veil of ignorance’ associated with these manipulated life forms. These transformed bodies, whether in the form of transgenic food or laboratory animals conceal their changes in DNA status. Karafyllis’ hypothesis, although arrived at from philosophical terms, is consistent with our analysis of scientific advertisements. Examining the nature of pictorial motifs, styles, and signification brings out another layer of discourse into the discursive arena. Donna Haraway (1997) describes the biofactual entity, Oncomouse, as a mutant mouse, a creature with no rights to existence outside the laboratory station itself. In fact, there are more than 400 animals, including yeast and bacteria, that have been patented, and which are thus man-made. These creatures do constitute considerable research potential and they may yield notable economic reward, since each genetically modified organism is being created for a specific purpose. At the same time, one must ask: how many mice must be sacrificed to spare a human life? What relationships do the lives of ‘biofacts’ share with other creatures whose existence is dependant on an institutional or even industrial environment? Furthermore, reflecting on the mixing of human genes in animal hosts, journalist Rick Weiss (2004) poses the riveting question: ‘How human must a chimera be before more stringent research rules kick in?’ Amongst the ethical questions he raises are whether it would be ‘unethical for a human embryo to begin its development in an animal’s womb’. He also considers ‘whether it is appropriate to use a mouse in order to develop gene traits for a human immune system’. Alternatively, cell culture models are being developed by Fraunhofer IGB, in part to reduce the amount of experimentation on animals, which substitute artificial substrates for live animals. Through these experiments, the toxicity of chemicals, cosmetics and other medical devices can be tested without doing harm to living creatures. In this way disembodied cell lines can be cultured in the laboratory to garner results more quickly and with little or no harm to animals (see www.igb.fraunhofer.de/www/presse/Jahr/ 2007/en/PI_Hautakkred.en.html). As the osmotic divide between nature and culture continues to attenuate, what does it mean to be human in twenty-first-century societies? As we embark on remaking ourselves, what ethical questions are posed by these novel technologies? Reflecting on the hidden dimensions within current societies is a task requiring a careful reading of the ways in which nature and culture continue to intersect. A case in point is the recent exhibition at New York City’s American Museum of Natural History, ’Mythic Creatures: Dragons, Unicorns and Mermaids,’ which heralds and explores the imagery and significance of mythical mixed beasts. Extending beyond Western motifs, the curators cite creatures from China, Japan and the Himalayas, hence, explicating these forms as part of the cultural imaginary or even as part of a collective image-bank (see Rothstein 2007). In this venue, science and the mythic are portrayed as in collision, perhaps even representing an undercurrent of the public’s fear and awe in this regard. As a sub-textual display of the fantastic within the historical archive, is such an exhibition hinting at the dual-edged fascination of forbidden knowledge? At once attracted to and at other times repelled by, the exotic, the bizarre, the ‘freak’ show if you will, the mixing of discrete creatures has traditionally been referred to as representations of 230
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the grotesque. Does this fanciful exhibition not point, at least presently, to the nagging underbelly of all that is mutable?
Cellular agency in bioscience and bioart We now proceed to a related, yet separate area of research within the life sciences that has also created a significant amount of artistic research This involves a developing field of studio practice which, in the following sampling, combine ‘wetware’ biological methods with ideas generated by contemporary visual arts’ discourse. We will initially address the scientific aspects of tissue culturing and bio-printing in relation to the developing field of regenerative medicine, then we will move on to an analysis of various works of art which employ ‘wetware’ biotechnologies as their medium. Tissue engineering and scaffolding, bone marrow transplants, along with bio-printing and patterning have become buzz words within the unfolding field of regenerative medicine. A cardiac cellular patch, orchestrated and pulsating in unison with an in-situ heart, or blood vessels, fabricated as slender tubes, or bio-degradable scaffolds seeded with stem cells, are some of the promising technologies for repairing injury and for treating disease. These technologies, however, have emerged in the midst of ethical and political controversies concerning the acquisition of such cellular sources, the propagation of immortal cell lines, and commerce in human tissues without legal consent are historically classic examples of these abuses. The classic case studies of Henrietta Lacks and John Moore continue to nag at the questions concerning body ownership in all its fragments, parts and integrated wholes. Moreover, these deviances are part of the colliding trajectories associated with developmental cell biology, bio-engineering, morphogenesis, the material and robotic sciences, and even artists-as-researchers. Examples of these issues have recently been exposed in the South Korean case of stem cell fraud by which ‘donor’ eggs were harvested from female researchers. Were these altruistic gifts gestures by women, freely giving of their gametes for the scientific study of stem cells while other gamete-givers were paid for their services? (See Dickenson 2008.) In each instance, have the bio-ethical parameters of government supported research been breached? Such research requires considerable numbers of oocytes, although the count given by the research team was far below actual numbers used (see Hart 2008). An even more troubling example of egregious harvesting of cellular sources are the cases of procured foetal tissue obtained ‘from pregnant Ukrainian women’ which were then employed ‘ to create beauty treatments in Moscow salons’ (Hart 2008). In the field of regenerative medicine, fundamental questions concerning the nature and structure of biological form, and its abilities for self-assembly generate both utopian expectations and dystopic fears, isolating locked-in dilemmas and unanswerable philosophical questions. Historically meaningful and inventive discourses which comprise the speculative images and products of tissue engineering and its applications may be useful in distinguishing righteous public fear from anxiety-driven hyperbole. The science of tissue culturing, with its roots in Alexis Carrel’s groundbreaking work in the early part of the twentieth century, continues to find currency in today’s laboratories as well as visual art practices. Carrel’s innovative work in vascular surgery, suturing blood vessels, cultivating tumour tissue in vitro and, in the mid-1930s, his work with aviator Charles Lindburgh on a ‘profusion pump’, allowing organs to live outside the 231
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body during surgery, led to the development of organ transplant surgery as we know it today. Carrel was awarded a Nobel Prize in physiology for his work in 1912. Part mystic and part die-hard eugenicist, Carrel’s revolutionary work (and theatrical personality) brought to public view a promising new technology for repairing injury and curing disease (Friedman 2008). Julian Huxley’s short story, ‘Tissue Culture King’, published in 1927, makes reference to Alexis Carrel’s work and it is an early example of the interchange between science and science-fiction writing (Squier 1994). In this tale, a narrator retells his encounters in Africa as a stranded Englishman who becomes a cohort of Hascombe, an English scientist captured by the same African tribe 15 years earlier. For the tribal king, blood was revered as a vital mythic substance. Convincing the tribal leader that white men too revere blood, Hascombe enthrals him with visions obtainable via his microscope, eventually becoming part of their local community and supported by the tribe to continue his scientific research. In hearing that Hascombe named his tribal laboratory the Institute of Religious Tissue-Culture, the narrator recalls the day: my mind went back to a day in 1918 when I had been taken by a biological friend in New York to see the famous Rockefeller Institute; and at the word tissueculture I saw again before me Dr Alexis Carrel and troops of white-garbed American girls making cultures, sterilising, microscoping, incubating and the rest of it. (Huxley 1927) Eventually, Hascombe was able to convince the tribal chief that if he tissue-cultured the life within him, the growth of these extended king essences would ‘actually be an increase in the quantity of the divine principle’. As in the narratives we find in contemporary science fiction, a transplanted body part exchanged between distinct persons could impact the recipient’s desires and emotions (see Vidal 2002).
Scaffolding life Continuing along this vein, research pioneer Dr Vladimir Mironov, Director of the Bioprinting Research Center at MUSC in Charleston, South Carolina, and Thomas Boland, Associate Professor of Bioengineering at Clemson University in South Carolina, have devised a methodology for ‘printing’ tissues employing reconfigured ink-jet printers and cartridges (see Choi 2003). With the aid of ‘thermoreversible gels’, these scientists have been able to print, alternatively a layer of gel and then a cluster of cells in sheet form. The resulting tissues are then architectonically crafted as tubular 3-D structures, creating, in effect, man-made blood vessels. In a recent interview, Mironov talked about the concept of robotic bio-fabrication. He defines organ printing as ‘the bioassembly of living 3-D human organs using bioprinting technology and as an application of rapid prototyping, an additive layer-by-layer material deposition’. Used by engineers, architects and artists alike, this technology allows for the precision crafting of 3-D structures, including those with sculpturally formal complexity. This digitally driven procedure is a deposition process by which the adhesion of thinly layered materials is compressed to create a 3-D form. In 3-D bioprinting, biodegradable and, even seeded scaffolds are technologically similar to nature’s process of forming sedimentary rocks (see Mironov et al. 2003). 232
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Mironov observes that stem cells ‘have greatly increased the prospects for tissue engineering’ adding that ‘anatomy is no longer a static science’. He goes on to say that ‘the discovery of stem cells has reinvented classical microscopical anatomy – a tissue biology science as an elastoviscous structure’. In this bottom-up building, a new cellular star, the stem cell, has been generated and it looms large in public consciousness and controversy. Characterised as being pleuripotent, stem cells are the ultimate morphing material, containing the matrix of code for all types of cell differentiation. Other researchers at Drexel University’s School of Biomedical Engineering, Science and Health Systems, are modelling tumour environments and drug delivery systems. At UCLA highly porous tissue scaffolds are being fabricated from ‘new technological resources able to produce cell-signal interactions’.3 These advanced techniques continue to improve the ways in which the body can be repaired and reconfigured. From a cultural perspective, the similarly derived ‘cut and paste’ techniques of the application of collage to film and photography reinforce modernist conceptions concerning the ontological questions of shifting parameters of identities and spliced bodies. How does the infiltration of alternative matter affect the living creature, human or otherwise? How does the snip and tuck in the editing room repair and remodel visual iconography? As advances in bio-printing continue to be explored, we may ask about whether in the future, we will be able to print complete and functioning human organs. With the prospects of no more waiting for a new liver, or of no longer accepting the fate of accidental paralysis, this new technology awakens the desire for immortality in many of us. We might also ask if body parts (like a very fine, tailored suit) will be custom-made in the laboratory someday. Living systems that were previously outside the domain of cellular architecture, in fact, have become the raw materials for specialty building. Studies of animal models have garnered data that supports the use of stem cells for tissue engineering, particularly in bone tissue, skin and damaged heart muscle.4 As an alternative procedure to organ transplantation, tissue engineering may in the future be an efficient treatment for congestive heart failure, genitourinary diseases and other injuries to the skin (Bianco and Robey 2001). Classic representations of stem cells are diagrammed in its pleuripotent form. Pictured as the progenitor of multi-type cellular offspring which include neuronal, cardiac and epithelial cells, this generator of diverse cell types does have limitations. Stem cells can also cause massive rejection by their host bodies or they may even generate treacherous cancerous entities. All cells can develop programmes that are effulgent – out of control and deadly, stem cells are no exception. However, the notion of an individualised body repair kit and the transplantation of other types of cells generate twenty-first-century narratives bordering on the fictive. Research scientist Evan Balaban’s unique experiment with transplanted brain cells intensify debates concerning cellular transfer, species integration and complex behaviours. Transplanting neural tissue from Japanese quail embryos into the brains of ‘two-day-old embryonic Plymouth Rock chickens’ resulted in the transference of behaviours unique to each species. In a startling result, these tissue engineered chickens emitted vocal sounds particular to quail mutterings. In addition, they engaged in up-and-down head-bobbing, a gestural manner associated with quails (Long et al. 2002). In this experiment, the research scientists removed bits of the neural tube from the embryonic chicken and filled in the gaps with cells taken from the same areas in the quail. Resealing the poultry eggs with tape, the researchers waited for the chicks to hatch and consequently, vocalise. The scientists eventually discovered the specific part of the 233
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neural tube region – an area that develops into part of the avian midbrain – that is required to make chickens crow like quails. However, the metamorphosis was incomplete: the chickens did not warble, but they did exhibit other quail-like bodily gestures. Such experimentation is evidence that discrete cellular groups affect different types of behaviour. Awareness of the findings has facilitated some remarkable developments within recent tissue engineering (Long et al. 2001).
From feasibility to fantasy From feasibility to fantasy, the infiltration of current debates in research science into popular culture is illustrated in a recent TV episode of CSI. Perhaps the best-known, yet failed, scientific experiment appreciated by a wide popular audience is Dr Joseph Vacanti’s experimental mouse (see www.pbs.org/saf/1107/features/body.htm). This infamous mouse sports a material substrate resembling a human ear that is fused to its back through cellular bio-membranes. Although the scaffold eventually crumbled because of its weight, the mouse’s currency in popular culture continues. The laboratory mouse has, in fact, become an icon of the ‘grotesque’ which can emerge in the wake of radical alterations of natural forms when nature is extremely manipulated. In this recent CSI segment, a simulation of Dr Vacanti’s ‘ear-loaded’ mouse plays a cameo role prompting a discussion concerning the transgenic as an intriguing interjection within the programme’s narrative. Although Vacanti’s ear-laden mouse, actually has nothing to do with the transfer of genes between species in scientific practice, the assumption is that the substrate is in fact a human ear. Recalling the Frankenstein myth and other portrayals of scientists’ monstrous powers, the non-compliant mouse exits the laboratory and takes up refuge in the crevices of city streets. Although television drama is a forceful communicating medium, the Vacanti mouse as it was presented on the CSI episode represents a cartoon version of the research science itself. Nevertheless, the use of this figure is indicative of how confusing tissue culturing may be for a general audience and it registers the unease within the public imagination about recent biotechnological developments. Joseph Vacanti, Director of the Tissue Engineering and Organ Fabrication Laboratory at Massachusetts General Hospital and Professor at Harvard Medical School, is attentive to the reception of new technologies by the public at large, and by artists, in particular. He remarked that this ‘particular image forced people to think about living things in a different way’ (Lloyd 2003).
Tissue Engineering/SymbioticA/TC&A As a research fellow (2000–2001) at the Tissue Engineering and Organ Fabrication Laboratory at Massachusetts General Hospital, under the auspices of Dr Vacanti, Oran Catts, an artist working with wetware and tissue engineering technologies created several artworks, which he refers to as ‘semi-living’ sculptures. Residing in Perth, Australia, Oran Catts directs an Master’s in Fine Arts programme in the biological arts at the University of Western Australia and runs the programme SymbioticA, a research lab for artists interested in working with recently developed tissue technologies (see www.symbiotica.uwa.edu.au). Those based at this centre are spurred by an interest in both the material and cellular sciences, and in related bio-ethical issues raised by these sciences, 234
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such as the ontology of the ‘semi-living’ (cells kept alive through culturing) and their place in the Linneanian order. Hence, opportunities for interdisciplinary research abound here. In Joseph Vacanti’s lab, Catts’ tissue-cultured sculpture, entitled the Pig Wings Project (2000–1) was born. Using living bone cells from pigs, Catts and Zurr engineered three types of wings based on flying creatures. The results took documentary form as an exhibition at the Cordova Museum in Massachusetts. The first artwork ever to employ this technology was exhibited at Ars Electronica, in Linz, Austria (2000) by Catts and Zurr. With two, alternative titles: Tissue Culture and (Art)ificial Womb (2000) or The Process of Giving Birth to Semi Living Worry Dolls (2000), this piece was fashioned in biotissue, simulating the ‘worry dolls’ which are a familiar part of the culture of Guatemala (see Catts and Zurr 2001). In order for these sculptures to exist, and to continue to exist, they must be nourished and nurtured like any living creature. Hence, the team invokes the term ‘aesthetics of care’ to designate the underlying philosophical and moral passion for life forms which informs their artwork. In collaboration with Ionat Zurr, working under the label Tissue Culture and Art Project (TC & A), Catts and Zurr are currently developing a project entitled NoArk (2008). Commenting on what Catts and Zurr refer to as ‘a taxonomical crisis’, this sculptural project takes the form of a vessel which houses a number of different ‘cells and tissues originating from various organisms’ (National Academy of Sciences and University of Maryland forthcoming). For the artists, NoArk is a ‘semi-living’ system of life fragments, whose ‘cellular stock is taken from laboratories, museums and other collections’. Investigating the ways in which an extended body can be grown, NoArk aims at ‘reevaluating human relationships with the greater living world’. Catts and Zurr thus define the semi-living as ‘objects consisting of constructed elements and living parts of one or more organisms assembled and sustained by humans’. The philosophical underpinning of the work presented here resonates with many of the theoretical issues presented by bio-ethicists and philosophers. Questioning the work from this context is a foray of artists’ becoming involved with essential issues of the day. However, in what context do we assess the artwork? What historical dimension does this work evolve from? What relationship does the work have to its theoretical writings? And what other issues are invoked by the use of cellular material for works of art? Relying on several new technologies, and against the backdrop of cybernetic theory, the 1960s brought into dialogue issues concerning time-based media, the appropriation of natural and conceptual systems theory, as well as the use of the body as a sculptural medium. Perhaps particularly relevant here is Carrel’s notorious experiment with a chicken heart.5
Bioteknica and teratoma Bioteknica is the title taken by the collaborative team of Jennifer Willet and Shawn Bailey, to designate their work with living tissue. Bioteknica is, in fact, a fictitious biotech corporation, and the umbrella organisation for the visual art, actions and texts produced by this duo. One strand of their work revolves around teratomas. These are biological entities which have captured scientific attention because of their distinctive characteristics, which may one day help to unlock many mysteries in cell differentiation and growth. The teratoma, is, in fact, a wild, unscripted conglomerate of cells which 235
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may best be described as a programme of life-cells out of control. These entities are comprised of masses of cells in which order and organisation are displaced by chaos. Hair, teeth, and tumourous growths form its ingredients. In effect, the teratoma is a monster – a living programme out of control (see www.bioteknica.org/index2.html). ‘When a germ cell (in the testes or ovaries), turns cancerous,’ states Brian Alexander, a science writer and the contributing editor covering biotechnology for Wired magazine, ‘it starts to make a baby.’ ‘Such human cancers,’ he states ‘have the same strange property’ (Alexander 2003: 112–13). Because of these features, teratomas have been regarded by many as providing major clues for deciphering how an organism is created by self-assembly. Bioteknika has worked with the teratoma in a variety of ways. Originally fabricating fictional teratomas from dead meat products, the team went on to investigate tissue culturing as a medium for their sculpture. They describe their process thus: At SymbioticA we cultivated the P19 mouse teratoma cell line in vitro-building up a substantial population of healthy cells, both live and frozen. Simultaneously, we completed a series of 3-D scans of teratoma meat sculptures and with 3-D digital printing, moulding and casting techniques, produced a series of scale teratoma forms to serve as the sculptural scaffolds of the final Teratological Prototypes. Each teratoma was cast in a bioabsorbable polymer, P4HB, in two half sections and sewn together with thread. The teratoma scaffolds were placed in a bioreactor chamber, along with an abundant population of cells, and nutrient solution and stored in a water-jacketed CO2 incubator. As the bioreactor turns, cells are persuaded to attach themselves to the scaffolds rather than the interior walls of the chamber (www.bioteknica.org/index2.html) In a stunningly bizarre interactive project presented on their website, the viewer is invited to create their own teratoma (www.bioteknica.org/index2.html). Presented with virtual test tubes, the viewer chooses different amounts of the following substances: osteogenicphysis, histiopoiesis, dermaplasm, megalytrichoma and scaroadipocyte. After the appropriate quantity is selected, the next step in this virtual laboratory software involves advancing to the mixing zone where the substances begin to breed. The resulting images of monstrous parts beat in a low rhythm, while a crinkling sound adds the eerie but effective atmosphere appropriate for generation of visionary monstrosities.
Fetishising the relic Julia Reodica’s hymnNext&trademark; is a tissue-cultured project using smooth muscle tissue from rats to fabricate designer hymens. Although not intended for human application at this time, these artefacts, nonetheless, address issues of identity and social value. In many cultures, the hymen is considered a badge of honour, as a symbol of virginal purity and family honour. As both a sexual site and the focus for religious ritual, the hymen (in both its absence and its presence), is a membrane which mediates key cultural divisions – between nature and culture, between the sacred and the profane. This delicate feminine tissue has been inscribed meaning by patriarchal societies. Thereby it has been used to control the bodies of women in various cultures both in the past and in the present (Anker et al. 2008). 236
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Reodica discusses this project as illustrating the ways in which rules, protocols, and rituals in both science and theology instantiate the clean/unclean divide. She describes this connection in the following account: In the laboratory, scientists go through a system of events to ensure the purity of their experiment or practice. Similar to attending church, attendants can observe the high priest prepare for the ritual. The flow-hood, a sterile air-flow area that serves as the operating platform, is the scientist’s altar. Written protocols of preparing specimens and media are standardized in the field, just as sacred scrolls are copied and distributed to holy leaders. (Anker et al. 2008) For Reodica, the fabricated hymen as soft sculpture raises questions about ‘new sexual beginnings for both men and women’ since any orifice can become the site of attachment. Her project explores aspects of regenerative medicine and the possibilities of creating oneself anew. Julia Reodica is one of a growing group of artists who consider themselves to be artists/researchers. Recently, her work has been acknowledged and lauded by members and organisations within the natural science community. So, for example, she is continuing her projects on tissue engineering (which began as artistic undertakings), through a scientific research grant from the Rockefeller Foundation.
Cross-talk: in and out of the lab To date there are a number of institutions developing and funding programmes which bring visual artists into scientific laboratories to work on projects that intersect both of these disciplines. Intended to expand the ways in which ‘outsider’ visions may in fact expose and explore alternative, chance or heuristic findings, the artist in the scientific laboratory can be likened to the to the ‘canary in the mine’. Becoming a symbol of unknowing vulnerability, the canary historically and metaphorically is a litmus test for toxicity. Fixed ideas and dogmatic ideologies, like imperceptible, yet foul, poisonous air can be injurious to innovation. A stated goal of these collaborations is to further enhance the public’s awareness of science. However, is there evidence that this is happening? While science journalism purports to explain to a lay public the mechanisms of current scientific workings, addressing questions such as: what is DNA fingerprinting? How does it impact forensic evidence? What are genetically modified organisms? Are science journalists getting their message across? To a lay audience, works of art may be equally opaque. Nevertheless, the few that stand out certainly hit their target. In 2006, Artsactive (http://artsactive.net) a network of various international organisations including the Arts Catalyst, in the UK (www.artscatalyst.org), Ectopia in Portugal (www.igc.gulbenkian.pt/node/view/83) and Leonardo/ISAST in the USA (www.leonardo.info) was formed to ‘exchange the lessons learned by the presence of artists in scientific contexts and scientists in artistic contexts’. In 2008 they will meet at SymbioticA to ‘discuss opportunities for artists’ residencies in science and research settings’ (http://artsactive.net). Although artists have been collaborators in many science and technology projects over the years, ranging from Billy Kluver’s E.A.T. (1966) to Xerox Parc’s artist-in-residence programme (1993) to unique individuals like Joe Davis, a research fellow in the biology 237
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department at MIT (he holds no science degrees), the growing number of programmes intersecting the life sciences with visual art practice is on the ascent. One particularly noteworthy endeavour is the Swiss artists-in-lab programme, launched in 2003 (www. artists-in-labs.ch). In this residency, members are identified as artists/researchers and they spend nine months immersed in a specific science laboratory to learn the methods of and debates within biotechnology at first hand. The residencies are based on the premise that scientific laboratories provide selected artists with solid raw materials, pertinent subject matter, as well as unique opportunities for critical reflection. The programme affords artists ‘hands on’ access to the laboratory itself, enabling them to attend educational lectures and conferences. In addition, financial remuneration is granted to the scientist (who ‘hosts’ the artist) for instructing the artist in the laboratory techniques to realise their proposed projects. This initiative is also designed to aid scientists in gaining insight into contemporary art and aesthetic development, conceptual and otherwise. Communication channels with a more general public, as stated earlier, is also part of this programme’s mission. The Swiss artists-in-labs programme is located at the University of the Arts in Zurich and currently, the Swiss Ministry funds the programme for culture, but initially, as an international project, it was funded by the Ministry for Innovation and Technology. The current goals are to place talented Swiss artists from all disciplines into scientific environments with nine-month stipends. The main aims are to allow the artists to be inspired by scientific researchers and their discoveries, to gain ‘hands on’ access to scientific tools as well as to react to and engage in pertinent scientific debates. The organisers of the programme are researchers who look for conclusions and comparisons between the results of the artists’ immersive experiences among differing scientific host laboratories. Thus far 21 laboratories from the fields of physics, the life sciences, engineering and computing have hosted 27 artists in residencies. The main laboratories in biotechnology have been the Brain Mind Institute, EPFL, and the Centre for Integrative Genomics (GIG), both at the University of Lausanne. The Neurobiology Lab at the Institute of Zoology, University of Zurich, and the Centre for Microscopy (ZMB), University Basel and the Centre for Integrative Biology and ETHZ. (formally the Geobotanic Institute) are also host laboratories. Artists have worked in a variety of media, from documentary film to installation to robotic sculpture and as stated, in different differing scientific specialties. Let us consider some of the ‘aesthetic’ work produced in this programme. Shirley Soh, a sculptor from Singapore, and Thomas Isler, a Swiss filmmaker, undertook residence in scientific laboratories because of their interest in genetically modified plants (see Scott 2006). They were situated in laboratories where risk-assessments were being implemented to evaluate the significance and impact of GM plants (GMOs). Working at the Geobotanic Institute of the ETHZ in Zurich and the Centre for Biosafety and Sustainability in Basel in 2004, both artists were exposed to methods for monitoring pollination, insect migration and soil bacteria in areas where genetically modified crops were located. These laboratories were also involved in educational projects in both Europe and in developing countries, including Vietnam. One aspect of Soh’s work was concerned with the depletion of calcium from the soil in many Western countries due to excessive industrial production. To make her point visual, she gathered thousands of calcium-rich eggshells from the rubbish, and used them to line the floor of a public foyer in the laboratory complex. Assembling the eggshells as demi-spherical containers, she filled the once-discarded shells with soil and GM grass. As 238
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the laboratory’s genetic researchers passed her display, she asked them to fill in a questionnaire. Her questions concerned their reflections on the impact GMOs may have on soil bacteria. With this installation, Soh assumed the role of a provocative journalist generating audience response with an accompanying need to re-present these reactions back in a public format. Soh actually found some critical resistance within the science labs to her project, but she concluded that pressure to conform to the stoic methodologies of science often required the scientists to dampen their radicalism. In addition, her thinking ‘out of the box’ helped others to solve problems. For example, Dr Othmar Keappeli, Director of the Bats Centre for Biosafety and Sustainability in Basel, Switzerland, comments on the way in which Soh kept her progress notes by pinning them up on the wall in public view: She knew how language could be used to open up discourse. We all learnt a lot from the provocative words she constantly changed and pinned to the walls of the lab … and then there were lots of discussions among us about how scientific discovery cannot be isolated from social political problems. (Quoted in Scott 2006: 58–9) Soh was surprised to find that scientists from various laboratories in the building came to her opening and her work sparked further debate: can contemporary art be a catalyst fostering discussions concerning an ethics of bio-engineering? How can the aesthetics of microscopic life be theoretically framed? For Soh, her role was to highlight the ethical considerations and to pose reflective, imaginative possibilities, which manipulate the aesthetics of science. Many scientists are generally unaware of contemporary art’s critical discourses, including the differences between ‘beautiful pictures’ as art and art that operates according to other aesthetic strategies such as a cultural critique. The exhibition functioned as a social space spurring conversations and generating innovative ideas. In this case, an artistic installation/intervention became an impetus which brought scientists and artists together in dialogue. Alternatively, for his residency, Swiss artist Thomas Isler travelled Vietnam as a participant in a risk assessment team. While there, he produced a documentary film about Vietnamese farmers. Some of the farmers in the region he visited had been encouraged by radio announcements to come to a government depot to pick up GM seeds to try out. They were offered the seeds free of charge and were told that the seeds produce crops of favourable yield. The seeds had been bio-engineered with ‘a foreign gene originally derived from soil bacteria’ to repel insects. Although, Isler attended a workshop and met with research scientists in Ho Chi Minh City to discuss the ecological implications of the use of BT cotton, the farmers had no comprehension of the ills or benefits of genetically modified crops as potential issues. Separated by access to knowledge, economic standing and the corporate culture of science, Isler came to realise that scientific ‘cultural hegemony’ was truly separated from life on the streets (www.asci.org/ artike1537.html). After completing his film in Vietnam, Isher returned home to Europe to continue his residency at the Institute for Geobotanics (ETH) in Zurich. Here he worked on editing his film from his Asian footage and commenced work on a similar project about gene technology in Switzerland. However, he was not able to obtain the necessary permits for his project in Switzerland due to what the laboratory called ‘unmanageable publicity.’ Isler reconsidered his options and ‘decided to translate his experience into a new 239
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installation piece.’ His installation at the Museum of Design, University of the Arts, Zurich, in 2005 focused on variegated public attitudes towards genetically modified crops in Switzerland. For this installation, he borrowed a protective wire fence enclosure of the kind that is used to grow GM wheat in Switzerland. Inside the tent-like enclosure he displayed a video of his interviews with farmers in Vietnam as well as dead genetically modified wheat, highlighted by lights and fans. Simultaneously he projected videos of Swiss politicians talking about the banning of GMOs in Switzerland onto the outside of the tent-like fence. The contrast between the politicians from the west outside and the Vietnamese farmers speaking inside, clearly exposed the difference between western and the eastern orientations toward GMO agricultural production or, more specifically, differences between First and Third World economies. In Switzerland GMOs are banned, while in Vietnam GM seeds are sold in local open markets, without any reference to their consequences. With regard to the genetic manipulation of agricultural products, as we have seen in these examples, clearly cultural and economic biases abound in this area of biotechnology. As the works of Soh and Isler indicate, artist/researchers can provide exhibitions, occasions and stimulations for such discussion through aesthetic productions. Venues for art and science are no longer confined to only art galleries and museums. Occasionally it may also be revelatory for artists to gatecrash scientific conferences or visa versa, where unintended conversations can transpire. Some of the best cross-stimulations occur from conversations outside of the formal establishments and institutions where artists and scientists can spend more private social time discussing issues generated by biotechnological prowess. The artist not only operates as ‘the canary in the mine’ but is also likened to a lightning rod, a magnetic attractor of the fierce opinions on both sides of the biotech debate. Let us now exit the laboratory proper and visit artists whose orientation is towards holistic understanding of the biological world. The genetic/ecological/archaeological art produced by these artists is situated in the natural environment itself. Reclamation artworks so prominent in the USA in the 1970s, especially the work of Helen and Newton Harrison, Robert Morris, Robert Smithson and Agnes Dennis, are resurfacing once again, although in divergent forms. From Mara Haseltine’s oyster reef project to Brandon Balangee’s study of amphibian breeding to Mark Dion’s archaeological digs, artists are returning to environmental concerns in novel ways. Mara Haseltine’s Transcriptease (2007) is a solar-powered oyster reef at McNeil Park, in Queens (see www.calamar.com; Beyer 2007). Located at an inter-tidal zone in College Point, the artist has been working in collaboration with a team of marine biologists. Haseltine’s oyster of choice for this project is Crassotrea virginica, commonly known as the Eastern or American oyster. Able to tolerate swings in temperature, including frost, as well as extremes in turbidity and salinity, the Eastern oyster acts as its own water treatment plant. Living in beds as a social congregation, oysters are only as healthy as their surrounding water quality. For Haseltine, this literally alive project offers aid to an ill ecosystem, which is registering losses in biodiversity (for example, signalled in the disappearance of the striped bass in the city of New York’s waterways). The reef’s attenuated sculpture, as seen at low tide, is configured as a pair of double helixes, invoking the scientific symbol that has become an icon for all living entities. Brandon Ballengee, an activist eco-artist, exposes the plight of amphibians inside toxic water environments (see interview in Grande 2007). As an artist-researcher, he works with a diverse array of scientific data and analyses including a formulated hypothesis and collection of specimen samples. For Ballengee, the levels of mutagenesis among 240
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amphibians are distressing. He views amphibians as ‘sentinel’ species, functioning in a manner similar to canaries (once again!) being used to signal air quality in mines. This artist-researcher suggests that normal genetic growth patterns from alien bacteria are being disturbed by toxins and free radicals, thus creating malformation in frog’s limb-bud development. He shares his results locally, with underprivileged urban groups as part of his intention to get the community involved. Mark Dion’s installation Systema Metropolis at the Natural History Museum in London (2007) is indicative of the museum’s commitment to bring contemporary art to this science museum (www.network.nature.com/london/news/review/2007; Dion et al. 1997; Sheey 2006). Curated by Birgit Arends, Dion’s installation consists of four parts, three of which constitute samplings of material taken from the stone markers and surrounding site of the graves of: suffragette Emmeline Pankhurst, evolutionary theorist and advocate Thomas Henry Huxley, and philosopher Karl Marx. The artist and his team also took material samples from the development site for the Olympic Games which are to be held in London in 2012 and from the River Thames at Hammersmith Bridge. However, the most extraordinary part of the assembly process for this exhibition was the collection of insects garnered through the attachment of flypaper to the roof of a car which was driven on the A40, from St Paul’s Cathedral to Northolt in northwest London. After preserving the insects in alcohol and performing DNA tests on them, it was discovered that this ‘artistic’ method of ‘research’ generated new scientific data, such as the discovery of new insect species. To the museum’s scientists, these findings, although arrived at by unconventional means, were an unconventional yet astonishing surprise.
Future/natural: experiments on the bio-frontier Artistic interpretations, as we have cited here, are cultural filters exposing social, economic and political concerns generated by the proliferation of novel biotechnologies and the wider spectrum of genetic/ecological concerns. An antipode to the empirically driven biological sciences, the visual arts produce symbolic notations of the real which continue to inform our perceptions of a bio-altered world. Representational systems become for this moment, a tool not only giving form to thought, but also road-maps delineating cultural tendencies, and the ways in which metaphors and metonyms are employed to create cohesive narratives. As we envision the world around us, the pictures, models and maps we make, do in fact, remake us. From the fine arts to advertising, from scientific iconography to tissue-engineered live sculptures, an expanding concept of the visual continues to bring into focus the persistence of the cultural imaginary and the innovative thinking it drives. Michael Crichton’s Next, Margaret Atwood’s Oryx and Crake or Michael Winterbottom’s Code 46 are some of the recent cultural explorations elucidating a bio-transformed future. In these intense literary narratives, embroiled with outbursts of spectacle, rage, passion and abandon, the future appears to be littered with over-used and exploited resources, the maladaptive consequences of bombastic hubris. In each of these fictive chronicles, what lies ahead is a dystopian future. Mandatory genetic testing, limitations on reproductive choice, pharmaceutical enhancements, entropic food supplies and further denials of individual freedom are questions posited in these fictive scenarios. Our laboratories have become updates of Huxley’s Brave New World and Mary Shelley’s Frankenstein, exposing once again the foreboding consequences possibly at play 241
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when engaging genetic engineering, synthetic pharmaceuticals and in situ repairs to living organs. At one time fictive these processes at this time are stridently real. At the turn of the twentieth century, H.G. Well’s Anticipations: Of the Reaction of Mechanical and Scientific Progress upon Human Life and Thought (1901) outlined a promissory note for the future. Predicting that ‘the rapid progress of science would alter the social fabric of advanced cultures in unpredictable ways’ we can see for ourselves some of the ways in which the fabric of society has been subsequently altered. Alliances between the moneyed corporate conglomerates have transgressed or even usurped the independent powers residing in the academic, museum, agricultural and pharmaceutical industries. Our food is no longer farmed but operates on an industrialised factory model. Wealth and resources evaporate upwards, as media spin controls opinions creating deceptive ‘factual accounts’. Remaking the living world and its myriad types of life opens up a host of profitable entrepreneurial options. Should the commodification of cells, tissues, organs and body parts become legal fodder for trade? What further social inequities and consequences will resonate with such legislation? Can an individual have a market interest in his or her body parts? Is this another instance of an individual’s right to choose? Or, on the other hand, is this another form of human exploitation? Although progress in new technologies and biotechnologies is advancing the personal hopes of many individuals, how does personal choice affect or how can it be integrated with the common good? As the ‘cultural imaginary’ is purchased by social status seekers, where will innovation and inquiry reside in a just and enlightened society? For Huxley, the ‘leisure class’ – that is, wealthy shareholders of society – ‘will dominate the world of art … and … will influence it in certain directions’ (Wells 1999). The cultural imaginary is up for sale. Value is assessed by markets. These are some of the issues affecting societies today brought about at least in part by accelerating biotechnology in this golden age of biology. In this golden age of biology, the day-to-day transfusion between nature and culture can also be looked at as producing a myriad of ethical questions: 1 Does the public have the right to be informed as to which products for consumption have been genetically altered? Should all genetically altered products be labelled? 2 Why do scientific narratives continue to represent the scientist plagued by hubris and obsessed with ‘mastery over nature’? 3 On a material level, are bio-artists in fact bound by the culture of science rather than by art? What assessment models can be scripted to evaluate this production? 4 How can the public be brought into dialogue concerning the alteration of the bio-environment? Symbolic notations of the real continue to inform our perceptions of the changing world. In Things That Talk (2007), historian of science Lorraine Daston suggests that our relationship to things constitutes a conceptual dialogue which underscores the ways in which embedded propositions of the real interface with the symbolic models. Her case in point is an analysis of the glass flowers at Harvard’s Zoological Museum. She asks how our somatic reactions to a material that is no way akin to the chlorophyll-bounded flora can have such deep resonance in us. Although we are cognisant of the flowers’ artificial status, these specimens nevertheless have the power to frame questions regarding the 242
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modelling of nature beyond its symbolic form. Not employing individual examples of plant specimens, but instead compositing features from a variety of plants within a particular genus, the early model-makers know, as did the Renaissance masters, about the differences between universals and particulars. Framing the parts so is intended to ignore individual idiosyncrasies and to adjust one’s thinking about a generalised view. These models of explanation, sometimes illusionistically evocative or diligently computational, or, at other times, even sculpturally bounded, are conceptualising tools historically linking art and science. On the other hand, television programmes such as episodes of CSI or Without a Trace represent the scientific laboratory as the bastion of stainless-steel objectivity, unlocking the mysteries of material evidence to solve dilemmas and unravel crimes. To live within the cultural imaginary is to experience world-making at its most individual level. Like the bio-printing that surrounds us, one cell at a time, we are all, in the final analysis, DNA connected. As the accelerating dynamic of migratory practices hybridises extant disciplines, will new representational spaces forge alternative paradigms linking the visual with the empirical bio-sciences? And in what ways will this assemblage provide inventive forms of inquiry?
Acknowledgements I wish to thank Jill Scott, co-director of the artists-in-labs programme in Zurich, Switzerland, for her contributions to this chapter. I would also like to thank Maureen McNeil for her helpful feedback and her invaluable editorial input.
Notes 1 Conversation with Ingeborg Reichle, June 2008, Berlin, Germany. 2 www.biopharminternational.com/ BioPharm International magazine integrates the science and business of biopharmaceutical research, development and manufacturing by providing practical peer-reviewed technical solutions to enable biopharmaceutical professionals to perform their jobs more effectively. BiopharmInternational.com is part of the Life Sciences unit of Advanstar Communications that serves the healthcare, dental and veterinary fields, as well as pharmaceutical, science and drug discovery markets. 3 The School of Biomedical Engineering, Science and Health Systems, at Drexel University in Philadelphia, Pennsylvania (www.drexel.edu), and the Henry Samueli School of Engineering and Applied Science, Department of Bioengineering, in Los Angeles, California (www.bioen.ucla.edu). 4 ‘Embryonic stem cell-based tissue engineering may help repair damaged heart muscles’, Science Daily, 18 May 2004; online: www.sciencedaily.com/releases/2004/05/040518075414.htm 5 Carrel claimed that he kept a chicken heart alive and beating for 27 years. For a more sceptical inquiry see Landecker 2007.
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17 Genes in our knot Mike Fortun
Cells, organisms, and genes are not ‘discovered’ in a vulgar realist sense, but they are not made up. Technoscientific bodies, such as the biomedical organism, are the nodes that congeal from interactions where all the actors are not human, not self-identical, not ‘us’. The world takes shape in specific ways and cannot take shape just any way; corporealisation is deeply contingent, physical, semiotic, tropic, historic, international. Corporealisation involves institutions, narratives, legal structures, power-differentiated human labor, technical practice, analytic apparatus, and much more. The processes ‘inside’ bodies – such as the cascades of action that constitute an organism or that constitute the play of genes and other entities that go to make up a cell – are interactions, not frozen things. For humans, a word like gene specifies a multifaceted set of interactions among people and nonhumans in historically contingent, practical, knowledge-making work. A gene is not a thing, much less a ‘master molecule’ or a self-contained code. Instead, the term gene signifies a node of durable action where many actors, human and non-human, meet. (Haraway 1997: 142)
G. rex For as long as any of us can remember, the gene has been represented predominantly in both science and society as ‘the secret of life’ (Watson 2003), the ‘grail of human genetics’ (quoted in Cook-Deegan 1994), the ‘code of codes’ (Kevles and Hood 1993), and with more prosaic metaphors of ‘blueprints’ and ‘programmes’. Such metaphors are all too familiar, and so for the purposes of this essay I will put them under yet another sign, G. rex: the gene as king, ruler, sovereign legislator and ultimate authority. I choose this representation, G. rex, as a way to build on a set of images that Evelyn Fox Keller uses to close the book which has contributed greatly to our understanding of how scientific conceptions of ‘the gene’ have changed over the last hundred years, The Century of the Gene (2000). After documenting and analysing the shifting metaphors that not only accompanied but propelled the study of genes and organisms in twentiethcentury life sciences, Keller leaves her readers contemplating two representations of the awe-inspiring thunder lizard, T. rex. In the first image from the not-so-distant past, we see T. rex erect, head raised and tiny forelimbs jutting forward, a towering figure 247
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structured by the invisible fields of paleotonology and evolutionary theory that positioned this dinosaur as an upright reptile. Evidentiary and conceptual changes in these fields that are not on display with the creature but are nevertheless part of the visual representation, begat a new T. rex, now more closely related to birds and with an entirely different but perhaps no less fearsome posture: spine parallel to the ground, head down and forward, and oriented overall, not towards an imposing display of height, but bent towards the hunt, prowling, on the move. The bones themselves are of course unchanged, as are most of the connections between them; it’s exactly the same T. rex. Yet it is an entirely different T. rex: a new representation re-patterned in accord with new concepts and new imaginings that took place in the research wings of the museum. My G. rex is an extension of Keller’s visual analogy, joining up with her efforts to analyse how ‘the gene’ has been re-conceptualised and re-imagined over time. There are, of course, other ways to metaphorise the emergent paradigm shift that comes with the territory of the ‘new genetics’. Medical anthropologist Margaret Lock, for example, deploys not a dinosaur analogy but a cosmological one when she gathers some of the same scientific-cultural changes into the phrase ‘the eclipse of the gene’, which, in her analysis, is accompanied by the ‘return of divination’ (Lock 2005). Genes, according to Lock, have been eclipsed because genetic tests for complex conditions such as Alzheimer’s fail to provide the ‘information’ about future health status they promised; such tests are put to use nonetheless, in what Lock describes as less-than-rational divinatory exercises to predict one’s future. Many scientists and analysts of science are casting about for such new metaphors and images, a number of which I discuss in what follows. Our charge is to approach such ‘representations of changing scientific representations’ critically, but this doesn’t mean asking ‘is the representational metaphor right or wrong?’ so much as it means asking, in terms derived from J.L. Austin’s (Austin 1962) speech act theory, ‘is this figure more or less felicitous?’ – is it well-met, happily encountered, productive of thought and conducive to our most admirable behavior? Even though Lock’s ‘eclipse’ metaphor evokes something important about the contemporary moment, for example, I do not find it especially felicitous. Analysing changing scientific representations of ‘the gene’ in terms of a cyclic occlusion or a cosmic play of enlightening and darkening suggests fixed entities on vast orbits, where the alternatives have long been been laid out and the passing of one (modern reason in the form of genetics) only entails the re-arrival of another (a more primitive divination). With genetic astronomy eclipsed, the narrative appears to run, genetic astrology again rules the darkened day. In my reading of the new genetics, what ‘the gene’ is undergoing is less about obscuring or hiding and more about a repositioning and refiguring through extension: the gene is not being eclipsed, it is being abducted into new, more complex, more diffuse, and more powerful albeit delicate patterns, networks, systems – or knots, as I will collectively metaphorise these terms here. The king, G. rex, is not dead or eclipsed – it’s a knot.
From not in our genes to genes in our knot Few representations of scientific objects are more consequential right now than these representations of ‘the gene’, that ‘material-semiotic actor’ (Haraway 1997) that occupies such a crucial place not only in genetics but in all the life sciences – and not only in the 248
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life sciences, but in all of our collective life, in all its complexity and difficulty. For better and for worse we are conscripted into ‘genetic citizenship’ (Heath et al. 2004), charged with duties of governances that require literacy and active participation. In this essay I want to recapitulate some of the scientific and cultural changes that historians, anthropologists, and others have analysed in genetics, and to consider the implications that changing scientific representations of the gene have for us ‘genetic citizens’. The new representations of genes and genomes that are emerging as a result of the genomics revolution are, I will argue here, of enormous value to life scientists who are coming to better understandings of organisms in all their robustness as well as their fragilities. By ‘better’ understandings, I mean ‘more complex’, and by ‘more complex’ I mean ‘more attuned to the knotty realities that are living systems’. And now, in parallel, the rest of us ‘genetic citizens’ need better understandings of what genes and genomicists have become, where ‘better’ again means: more complex understandings of genes and of the people who study them, and more complex understandings of how genetic knowledge implicates ‘society’. Complexity is not, of course, a good in itself, and can be formulated in different ways. I valorise complexity here because thinking in its terms has both resulted from and driven advances in genetics, opened up connections between genetics and other scientific fields, as well as between genetics, the social science and humanities and ‘the public’. Today, for example, through the rubric of ‘complexity’, geneticists themselves seek out both environmental health scientists (who can help them understand the gene–environment interaction that is now a cutting edge focus of genetics research) as well as the health policy analysts, anthropologists and community leaders who can help them understand how new forms of genetic knowledge might circulate. Complexity is not the answer, but the new condition of possibility.1 I hope this essay will assist readers in tuning into the complex realities of today’s gene and today’s genomic researcher – realities which I tie together under the rubric of ‘knots’. Why knot? This metaphor first suggested itself to me as a playful reversal of the title of that important book which also became a kind of unspoken slogan among social scientists critiquing genetics and geneticists in the 1980s and 1990s, Not in Our Genes (Lewontin et al. 1984). At a time when sociobiologists and other scientists were making audacious claims about genes as ‘selfish’, all-powerful biological royalty, such a straightforward refusal and opposition – Not! – was a powerful and necessary social, political and scientific counterargument to all kinds of biological essentialisms and their associated eugenic gestures. A genetic reductionism that was more often than not ‘crude’ elicited, in perhaps dialectical fashion, arguments favouring or privileging ‘the social’ or ‘the environmental’ as a counter-discourse to the ‘discourse of gene action’ (Keller 1995) on which genetics and allied sciences like sociobiology so heavily, albeit productively, depended. To be sure, such a kingly representation of the gene as dictator (in both senses of the term), the precious, all-powerful, eternal germ-plasm safely ensconced within the ‘giant lumbering robots’ (Dawkins 1976) which they controlled, was never entirely hegemonic within the life sciences. Historians and historian-scientists such as Keller, Jan Sapp (Sapp 2003), and Scott Gilbert (Gilbert et al. 1996) have shown how developmental biologists, in particular, tended to think and work within conceptual and experimental paradigms that were far less genocentric than that implicit with the G. rex paradigm. Moreover, if the gene was ‘the secret of life’ for much of the twentieth century, Ross Harisson, Alexis Carrel and other pioneers of tissue culture kept the nineteenth century’s contender for that metaphoric title – the cell – alive and well (Landecker 2007) – literally and metaphorically, if you will pardon the partial redundancy. 249
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Scientists themselves, in other words, have often been the most dependable and vital source of alternative metaphors and representations for organisms and their components. Indeed, few have been more dependable and vital than population geneticist Richard Lewontin himself, who gave us Not in Our Genes (1984), and whose more recent book title goes some way towards suggesting my knot – The Triple Helix: Gene, Organism, and Environment (Lewontin 2000). Nevertheless, even this representation could still use some additional twisting. ‘It is not possible to do the work of science without using a language that is filled with metaphors,’ Lewontin affirms in his opening sentence (Lewontin 2000). He then proceeds to critique most of the familiar metaphors in play in genetics, commenting that: ‘Any computer that did as poor a job of computation as an organism does from its genetic “program” would be immediately thrown into the trash and its manufacturer would be sued by the purchaser’ (ibid.: 17). But as Lewontin admits toward the end of his short book, there is a ‘distinctly negative flavor’ to his text, which almost exclusively details the (inevitable) shortcomings and failings of genetic metaphors, while leaving their more productive aspects unanalysed. Indeed, there is something reductionist about Lewontin’s own analysis, especially at the end of the book, where the causes of large-scale scientific change are effectively reduced to a few technologies. Hence, for Lewontin, the introduction of ‘the new technique of protein gel electrophoresis’ into evolutionary genetics in the 1960s becomes a story of how ‘a single easily acquired technique changed and pauperised … an entire field of study’. He sees the later ‘invention of automatic DNA-sequencing machines’ as creating a situation in which ‘the problems on which geneticists work have become those that can be answered from DNA sequences’ (ibid.: 128–9). Lewontin was not wrong – and, again, his reading was critical and ‘felicitous’ (in Austin’s sense). But it did not capture the whole story. Many confounding technologies, processes and events have shaped what genetics has become; it has taken and will continue to take many kinds of readers to make sense of it. Lewontin’s The Triple Helix was published, for example, in 2000, which from other perspectives marked a promising watershed. In a 2000 review article in Nature, ‘Exploring genome space’, molecular biologists Ognjenka Goga Vukmirovic and Shirley M. Tilghman (who later became president of Princeton University) wrote of the ‘intellectual and experimental sea change’ (Vukmirovic and Tilghman 2000: 820) that all of biology was undergoing, primarily as a result of the massive amounts of genetic, protein and other information that was by then pouring out of university, government, and corporate laboratories. ‘This avalanche of data’, they wrote, was unleashed by the ‘fortuitous confluence’ of radical improvements in numerous technologies: DNA and protein sequencers, mass spectrometers, nuclear magnetic resonance (NMR) spectrometers, x-ray crystallography and other imaging technologies, to name only a few which they mention. Although they explain that the data deluge had only ‘whet our appetite for more’, the intent of their article was to step back momentarily and to describe ‘some of the challenges that biologists face as they acclimatise themselves to this change in the data landscape’ (ibid.). It is worth recalling that the development of these avalanching-producing, landscapetransforming technologies had been a prime motivation and rationale for the Human Genome Project (HGP), politically astute rhetoric about ‘completion’ and ‘the Holy Grail’ notwithstanding (see Fortun 2002). As Charles DeLisi, one of the earliest and strongest advocates of the HGP who was at that time in the US Department of Energy, testified to a US Senate committee in 1987, a main goal of the HGP was 250
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to develop technologies that would make sequencing … a lot quicker than it currently is … [I]f you want to sequence a hundred thousand bases [in] twenty people and compare their sequences and understand disease susceptibilities, you can’t do that, it’s not a clinically viable procedure. We can make that a clinically viable procedure. That’s the goal, it’s not to sequence the human genome, at least initially. (Senate Committee on Energy and Natural Resources 1987: 12) Not everyone at that time believed in ‘the value of such large-scale data acquisitiveness in biology’, noted Vukmirovic and Tilghman (ibid.). But, just 13 years later, the idea ‘that data are inherently good’ had become ‘a central pilosophical tenet for biologists’. Along with this new data landscape of ‘genome space’, Vukmirovic and Tilghman remarked on changes in financial, disciplinary, and campus landscapes as well: It is hardly a coincidence that many universities and research institutes, including our own, are making major investments in multidisciplinary life-science initiatives to explore the complexity of living things. Organisms are networks of genes, which make networks of proteins, which regulate genes, and so on ad infinitum. The amount of complex data that will be generated, and the need for modeling to understand the way networks function, will ensure that disciplines outside of biology will be required to collaborate in this problem, if the ultimate goal to deconstruct such networks is to come to fruition. (Vukmirovic and Tilghman 2000: 822) Although ‘ad infinitum’ is almost certainly an overstatement, it can nevertheless be read as a welcome sign of ‘the funny thing that happened on the way to the Holy Grail’ (Keller 1995). Although driven and justified by a unidirectional notion of ‘gene-action’, the HGP instead created a landscape in which genes acted only within complex networks, in extensive, if not infinite, loops of recursive control. The gene has not been eclipsed, and it has not provided easy answers; the gene has been networked or, to employ the messier metaphors I prefer, it has become knotted. The resulting enthusiasm for ‘systems biology’ – an enthusiasm which, as I shall explain below, I share – is best regarded as another iteration of a long attempt, decades if not centuries in the process, to articulate a more holistic or organismal conceptualisation of organisms. This was signalled in the chiasmic subtitle ‘The Living System – A System for Living’, of embryologist Paul Weiss’s 1973 book The Science of Life. Weiss’s book – which preceded The Selfish Gene by three years, and Not in Our Genes by more than ten – is another reminder that life scientists themselves can sometimes be the best critical readers of scientific representations. ‘What is misleading in the term “genetic determination”,’ he argued: is that it conveys the notion that the development of an organism is simply the mechanical product of a bundle of linear ‘cause–effect’ chain reactions, reeling off in rigid sequence according to a minutely predesigned plan of clockwork precision. That notion, reinforced by the anthropomorphic language that endows genes with the powers of ‘dictation’ and ‘control’, rests on a basic misconception of the nature of biological processes in general and of developmental dynamics in particular. Scientists familiar with the facts, of course, know better … [T]he current fashion of entrusting the genes with a monopoly on the ‘information’ necessary for the building of an embryo is bound to find itself caught short. 251
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For evidently, besides its full complement of ‘genetic information’, each cell needs still additional ‘topical information’ derived from the field structure of the collective mass. How otherwise could any unit know just what scrap from its full grab bag of inside information to put to work at its particular station in order to conform to the total harmonious program design? … To sum it up, in whatever phraseology one may choose to couch it, the basic postulate of a dualism of interaction between coarse-grain field patterns and fine grain gene responses is solidly founded on experimental and logical grounds. (Weiss 1973: 10, 35) Weiss’ articulation remains compelling today because it so aptly describes what has become cutting-edge genetic understanding, while reminding us that a critique of genetic determinism is not entirely new. Weiss’s articulation is also compelling because of the significance it attributes to ‘phraseology’. Like Lewontin, Francois Jacob and many other scientists, Weiss understood that the metaphors we think with matter. When it comes to organisms, we have come through metaphor to appreciate more fully (yet again) their interactional constitution, their dynamism, the essential fact of their becoming within entangled systems that are nested, perhaps not ad infinitum, but far, far out from the genetic, to the cellular, physiological, and on to the technological, social and political levels often conceived as worlds apart. Little wonder, then, that scientists feel the need for new representations, new metaphors.
The music and art of genes With systems biology and post-genomics comes a new, more complex conceptualisation of genes and organisms, and a new set of metaphors that have moved from language referents to the domains of art and music. One place to glimpse the rearticulating of G. rex into the ‘network of networks’ that is also the knotted triple helix of gene/organism/ environment is in geneticist Enrico Coen’s The Art of Genes (Coen 1999). You will not find there the phrases ‘Book of Life’, ‘Encyclopedia of Man’, ‘Holy Grail of Genetics’, ‘Code of Codes’ or any similar metaphor for DNA, genes or genomes (three things which are neither the same nor different). There is virtually no reliance on those productive articulations of ‘information’, ‘code-scripts’ and the almighty determining directions that these things, somehow supposed to be ‘in’ DNA, providing an origin to the organism. Rather than presenting genes as ‘informing’ or ‘coding’. Coen presents them as ‘interpreting’. I trust that you know how to read that shift in sign systems: genes aren’t a text that contains commands, so much as they are readers – creative, flexible readers at that – of a more primary text; environment, within the body and beyond it, matters most. Another shift evident in Coen’s book is also noteworthy. Instead of imagining genetics as written texts, Coen imagines them visually, and in terms put in place by visual artists. Van Gogh, Magritte, Islamic fabrics, Durer, da Vinci, Escher and, most importantly, at the end of the book, Heath Robinson, the British counterpart to the American Rube Goldberg, are all in play. Works by these artists and numerous other drawings, illustrations and diagrams are used to depict what it is that genes might be said to ‘do’ in the post-genomic territory which we inhabit with them. Coen’s text suggests that genes respond to ‘hidden colors’, or, both more and less accurately, respond to ‘a distribution 252
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of hidden colors’. Genes interpret and create patterns, themes, and variations on themes. Genes are ‘sensitive’ to certain ‘scents’. They elaborate on forms, shifting and expanding them. Genes find themselves so deeply imbricated in ‘chains of events’ that one is forced to speak, write, and think of knots, as Coen indicates: Let me summarize the main points … Flies and flowers contain a set of identity genes that are expressed in various regions of the organism to produce master proteins. This distribution of master proteins is equivalent to a map or patchwork of hidden colors … The map of hidden colors provides a frame of reference that can be interpreted by many genes through their regulatory regions. The combination of binding sites in a regulatory region acts like a specific molecular antenna, responding to the pattern of hidden colors in such a way that each of these genes comes to be expressed at certain times and places in the organism … The pattern of hidden colors arises through a chain of events, involving one set of hidden colors building on another set of hidden colors, which in turn depend on another set. (Coen 1999: 103, 131) Which in turn … keep on turning, keep on depending on the next additional pattern, until one has a massive knot – or perhaps a symphony. In his book The Music of Life, Denis Noble lays out a number of reasons for ‘opposing the otherwise colourful metaphor of describing the genome as “the book of life”’ (Noble 2007). He explains that, in trying to reduce life to any of its multiple hierarchical levels – genome, proteome, cell, organs, brain, or even ‘self’ – the ‘deep rooted’ ambiguities and interpretabilities of our conceptual apparatus tie us up in ‘philosophical knots’ (ibid.: 127). Noble brings his book to a sudden and rather stunning end in a chapter entitled ‘Curtain call: the artist disappears’. Under an epigram of a Zen koan, Noble writes that he chose ‘music’ rather than book, programme, code or any other linguistic metaphor as the most appropriate metaphor for life because ‘music also is a process, not a thing’, which must be ‘appreciated as a whole’ (ibid.: 143). ‘We can choose our own metaphors, they don’t need to be imposed on us,’ he writes, adding for good measure Wittgenstein’s dictum: ‘That whereof one cannot speak, one must remain silent’ (ibid.) Perhaps this is the trajectory implied by Vukmirovic and Tilghman’s ad infinitum: in the search for new metaphors for the newly networked gene, we move from codes, to interpretations, to knots, and thence to nots – the limit beyond which speech and representation are not possible.
A farewell to razors What does this ‘sea change’ (to recall Vukmirovic and Tighlman’s metaphor) in genetics look like, not from the meta-level views of Coen and Noble, but rather from the vantage point of the working geneticist who might have once hoped for something more determinable, if not determining, from genes? Here I will discuss the particular case of asthma, a puzzling complex condition for which it was once hoped, not so long ago, that genetics would provide some simple answers. While the ‘avalanche of data’ that Vukmirovic and Tilghman describe as unleashed from the technological revolutions of genomics and related enterprises put a fairly quick end to that hope, it did not end the promise of genomics. Excitement continued, configured differently. 253
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The new large databases of gene and protein information, coupled with large studies of populations, still promised to help ‘unravel’ some of the complexity of conditions such as heart disease, diabetes and asthma. Unmitigated optimism soon gave way to more sober assessments, however. In the first few years of the twenty-first century, the number of publications announcing ‘genes for’ these complex illnesses increased dramatically, but questions were not far behind. Genomic studies ‘involving large datasets’, wrote the editors of the Public Library of Science Medicine in 2005, ‘especially ones that have a clinical outcome, are so poorly reported (or possibly so poorly done) that many are not reproducible’ (PLoS Medicine editors 2005). Genomicist John P.A. Ioannidis even issued an all-encompassing critique, ‘Why most published research findings are false’ (Ioannidis 2005). Genomic studies of complex, multifactorial diseases in large population groups were particularly prone to Ioannidis’s critique, since a research finding is less likely to be true when the studies conducted in a field are smaller; when effect sizes are smaller; … where there is greater flexibility in designs, definitions, outcomes, and analytical modes; when there is greater financial and other interest and prejudice; and when more teams are involved in a scientific field in chase of statistical significance. (ibid.) Knots are not easy. While Ioannidis calls the search for ‘genetic or nutritional determinants of complex diseases’ – where these determinants confer (as they do in the majority of cases) fairly small risks – ‘largely utopian endeavors’ (ibid.), he is nevertheless a leader in the US Center for Disease Control’s HugeNET – the Human Genome Epidemiology Network. HugeNET – which is more accurately labeled a ‘Network of Investigator Networks’ (see Ioannidis 2005), is another exhibition of the new knotty, recursive logics characterising genes, genomes, and genomicists too. The current situation is ‘plagued with problems’, where ‘the research evidence is fragmented, and the interface between epidemiology and other biological evidence is poorly developed. It remains unclear how to keep track of the rapidly evolving evidence across fields … and how to rate the credibility of this evidence’ (Ioannidis 2006: 4). HugeNET advocates ‘systematic reviews and meta-analyses’, and is promoting ‘new data synthesis methodologies’. They are also pushing for ‘widely accepted rules for assessing the evidence for causal inference in genetic association studies, including the transparency of data processing, magnitude and significance of the proposed genetic effect, extent of replication, protection from bias and concomitant supporting biological evidence’ (ibid.: 5). As this suggests, genes in our kNots require more oversight, openness and collaboration than the gene as sovereign code ever did. The path forward for the genetics of complex conditions is, according to the editors of Nature Genetics (Nature Genetics 2006), an ‘experimental’ one, a tentative, even fumbling, probing of an indistinct and potentially vast solution space. The journal, prompted by its referees, has revised its review criteria to emphasise ‘accountable statistical design and transparent reporting of hypotheses, results, and data processing’. They nevertheless go on to issue additional caveats, noting that ‘success in this risky field is sporadic and that not every study will fulfil all the ideal criteria’. It ultimately falls to ‘the community’ of researchers, and not journal editors, to develop emergent standards. Here, too, the need for multiple readers is acknowledged. 254
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Genetic and biological complexity are now reflected in greater social complexity in the networks of scientific researchers, as knots beget knots. The case of asthma is indicative of this situation. A 2007 review article discusses how geneticists have now identified 120 genes that have been shown, in at least one study, to be significantly associated with asthma. The genes can be coded according to their many different gene products or effects, which, in turn, can be grouped according to different physiological function – immunoregulation, inflammation, innate immunity, lipid mediators, and so on. They also have multiple sites of activation or operation: some genes are active in the cell nucleus, others in the cytoplasm, still more at the cell membrane, and in extracellular space as well. Like many other geneticists or other researchers investigating asthma, the authors point out that these genes do not cause or explain asthma in any simple way: Experience with other candidate genes for asthma (and other complex diseases) has taught us not to be too enthusiastic about early positive findings. In fact, as the number of association studies increases, it becomes clear that the initial report overestimates the importance of the gene … Finding a genetic association between genetic variants and asthma or asthma-related phenotypes is not straightforward, as it is influenced by the inherent complexity of the disease and methodological issues. (Bosse and Hudson 2007: 176–7) No one now, least of all geneticists, needs to be told that asthma is ‘not in our genes’. Most geneticists know that genes aren’t what they used to be, they have lost their sovereign authority, and if a complex condition such as asthma can be said to be ‘in’ anything it is ‘in’ what are now popularly acronymed as GEI – gene–environment interactions. ‘Finding a genetic association between genetic variants and asthma or asthma-related phenotypes is not straightforward’ because the asthma phenotype is ‘not straightforward’. It is a knot: a tangle of interactions so dense and so intricate and so extensive as to prove highly resistant, to say the least, to current conceptualisations and technologies (and their own complex, knotty interactions). There are 120 genes tied into their own regulatory and metabolic and immunologic networks, which are knotted in interaction, and those networks and their interactions are knotted into developmental and evolutionary histories, which unfold in changing, local ‘environments’ of shifting, differential exposures that are currently a challenge to measure and analyse. Genes are in these knots – they are not dominant determinants (because nothing would seem to qualify as a ‘dominant determinant’ in asthma) but they are hardly irrelevant either. Just as asthma is part of a tangled ecology, researchers who work on asthma genetics are also part of an ecology of high-throughput sequencing technologies, in turn implicated in a rapidly growing number of rapidly growing databases of molecular and health information. As is the case for the genetics of all other ‘complex conditions’, trying to unravel the genetic knots of asthma requires ‘huge datasets’ consisting of many intertwined parts, all of which are woven out of the blood and from information extracted from and gifted by a very large number of individuals, who thereby become ‘populations’. Such large population studies, which are necessary to identify and to characterise the numerous interacting genes which each contribute some small twist to the overall knot of the condition, pose quite different methodological challenges for researchers, in contrast with studies associated with ‘simple’ Mendelian disorders. 255
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With reference to asthma, genomics does not provide a fundamental explanation or even the ground for further investigations. Instead, it offers a particularly productive entry point for improving understandings of the knotted specificities of the condition. Thus, a researcher such as Fernando Martinez finds that the complexities and specificities of asthma make it necessary to apologise to William of Ockham for abandoning his razor of simplicity. Martinez highlights how the ‘weak linkages’ among ‘flexible’, ‘indirect, undemanding, low-information’ knots of complexly interacting biological response systems produce a heterogeneous condition like asthma, where: a specific protein may exert opposite effects when participating in coordinated responses to different external stimuli, and therefore, a genetic variant that increases transcription of that protein my enhance an ‘asthmatic response’ to one exposure and hinder an ‘asthmatic’ response to a different exposure. The specific role of any element of the response system is thus determined not only by its intrinsic characteristics but also by the biological context in which it is expressed. (Martinez 2007: 30) Moreover, we must add environmental and social context to biological context, as these too become knotted or folded into the biological organism. Giving up on genetic explanatory parsimony also means giving up on ‘the original hope that genetic tests would allow us to identify who is at risk of which complex disease’. But Martinez feels that the more complex view of asthma that genomics has helped to construct at least ‘seems more in tune with the degree of heterogeneity and unpredictability of the expression of the disease that is evident in any asthma clinic’ (ibid.: 30). Genes in our knot may not be a simple or elegant code to live by or to do science by, but it has the advantage of accommodating more faithfully to the actual complexity of our bodies, to the intricate knots that tie us together and bind us to the changing world we live in.
Conclusion and illusion Ten years ago Donna Haraway implored the practitioners of science studies to learn how to engage in knowledge-making practices in genetics, as well as in other cultural domains, that produce critical and cross-cutting multidisciplinary, multispecies, and multicultural savvy: ‘We need a critical hermeneutics of genetics as a constitutive part of scientific practice more urgently than we need better map resolutions for genetic markers in yeast, human, or canine genomes’ (Haraway 1997: 160). Something like this has indeed unfolded. With or without the assistance of historians, philosophers or cultural analysts of science, geneticists themselves are becoming critical hermeneuticists, more attuned to the productive power of metaphor in their own scientific representations, more willing to engage in making new metaphors of their own. Indeed, for some of them the gene itself is now seen as a ‘critical hermeneuticist’ in its own right, not carrying out a programme or executing a code, but actively interpreting multiple signals at multiple scales within multiple frames of significance. Which is not to say that historians, philosophers and cultural analysts are not needed. Quite the opposite, I hope: multiple, differently focused and talented readers will be imperative.2 It will not be easy, this building of collaborative engagements for reading the genes in our knots. 256
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But it would be too easy to simply continue with ‘not in our genes’, as it leaves us off the hook of engagement. Will there continue to be overreaching claims made for the genes as the most powerful ‘secret’ or as the ‘foundation’ of life and health? Undoubtedly. Nevertheless, I think that a larger, more powerful trend is clear: genes are well on their way to becoming something other than what they have been for most of their history. An editorial in Nature noted that in 2006 noted that not only did most ‘geneticists find it hard to agree on an appropriate definition of a gene’, they were also ‘unsure whether genes themselves are worthy of the most attention, compared with other parts of the genome, or RNA or proteins, or the way they all interact together in different tissues’ (Nature editorial 2006). ‘Bring on the complexity,’ they crowed: ‘how dull [geneticists’] lives would be if there were just genes and diseases to be linked, like one of those join-the-dot puzzles’ (ibid.) In this call for complexity, or gene–environment interactions, or systems biology, or networks of networks, my guess is that, once again, geneticists will get something more than they bargained for: not just dots, and not just dots joined to other dots in analysable pathways, but knots, entangled with more knots, in a way that exceeds even the most complex genetic representations, be they interpretations, artists’ canvases, or symphonies. Again, that doesn’t mean there is no longer a need for critical questioning or ‘outsider’ involvement. It is only to say that critique has itself become much more complex, as genetic representations themselves become more complex and knotted, and less amenable to the straightforward, oppositional not. And the position of the ‘outsider’ has become untenable or at least unproductive, in a time when everything from the gene to the geneticist has become a network, networked with other networks. So the complex critiques need to be networked, in my view, to an ethic of friendship that recognises that the genes in our knots tie scientists, analysts of science, artists, and every other genetic citizen together. These may be uneasy, fragile and tangled ties, but if genes are capable of working within such knots, surely humans can be too. We may not have reached the end of scientific representations like ‘the genetic code’ or even ‘the genomic symphony’, but I think we have become more adept at thinking and living at their limits. Since limits are funny places where odd things occur, I conclude not with a scientist and a scientific representation, but with a poet and her poem – that literary device that does something other than represent. Ruth Stone’s poem, The Illusion (Stone 2002), does not represent genes, but it does evoke the contradictions, impasses, and wonder of knots:
The Illusion I am not the genes and the genes are not me. We are identical twins, separated at birth. This is my sinew. This is my fertile ovary. What is worth the universe is also worth me. I am not me. I am the genes. The double helix. My future is spelled out. Tool of the universe: pricks, cunts, genuflections; the orgasm’s curse, brief span, holy thou: I am the neutron fix. I am the hole, the dark other, the negative between I was and I am. Wherefore yes, dense and disperse, 257
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blinded visionary that locks the moon in place; I am the simple sieve that drinks the universe.
Notes 1 This essay, as all my other writing about genomics, is underwritten by years of fieldwork in various genomic settings which do not always correspond to a physical location. My fieldwork on the scandalous genomics company deCODE Genetics (Fortun 2008), for example, occurred only partly in Iceland; the archives of the US Securities and Exchange Commission and on-line financial trading bulletin boards were another important part of that field. In my work on toxicogenomics (Fortun and Fortun 2005), Kim Fortun and I interviewed numerous and diverse scientists at the US National Institute of Environmental Health Sciences and in universities, and attended the first Gordon Conference on toxicogenomics as well as several symposia on the subject convened by the US National Academy of Sciences. Throughout these projects I also had the tremendous benefit of being a member of several ‘transdisciplinary’ working groups organised by Dr Alexandra Shields to address the intersections of genetics, changing definitions of race/ethnicity, complex conditions such as smoking and asthma, the challenges of gene-environment interaction research, and public health (see e.g. Shields et al. 2005). In these latter projects I enjoyed the anthropologist’s good fortune of extended, open exchanges with geneticists, physicians, exposure scientists, epidemiologists and other researchers who could be honest and eloquent about the limits of their current knowledge and practice, their doubts and questions about their disciplines, and the new scientific endeavours they were reaching for. Since my deCODE project focused on the ‘infelicities’ of promising genomics – hype, crude simplifications, the manipulation of truth and stock prices – I am grateful to have had this simultaneous stream of alternative ethnographic insight into the other side of genomics’ promise. 2 As one example of what such collaborations might look like, consider Michael Montoya’s ethnographic portrait of scientists researching the genetics of Type-2 diabetes (Montoya 2007).
References Austin, J.L. (1962) How to Do Things with Words. Cambridge, MA: Harvard University Press. Bosse, Y. and Hudson, T.J. (2007) ‘Toward a comprehensive set of asthma susceptibility genes’, Annual Review of Medicine, 58: 171–84. Coen, E. (1999) The Art of Genes: How Organisms Make Themselves. Oxford: Oxford University Press. Cook-Deegan, R. (1994) The Gene Wars: Science, Politics, and the Human Genome. New York: Norton. Dawkins, R. (1976) The Selfish Gene. Oxford: Oxford University Press. Fortun, K. and Fortun, M. (2005) ‘Scientific imaginaries and ethical plateaus in contemporary US toxicology’, American Anthropologist, 107, 1 (March): 43–54. Fortun, M. (2002) ‘The Human Genome Project: past, present, and future anterior’, in Garland E. Allen and Roy M. MacLeod (eds) Science, History, and Social Activism: A Tribute to Everett Mendelsohn. Dordrecht: Kluwer. —— (2008) Promising Genomics: Iceland and deCODE Genetics in a World of Speculation. Berkeley, CA: University of California Press. Gilbert, S.F., Opitz, J.M. and Raff, R.A. (1996) ‘Resynthesizing evolutionary and developmental biology’, Developmental Biology, 173: 357–72. Haraway, D. (1997) Modest Witness@Second_Millenium.FemaleMan©_Meets_OncoMouseTM: Feminism and Technoscience. New York: Routledge. Heath, D., Rapp, R. and Taussig, K. (2004) ‘Genetic citizenship’, in D. Nugent and J. Vincent (eds) A Companion to the Anthropology of Politics. London: Blackwell, pp. 152–67. Ioannidis, J.P.A. (2005) ‘Why most published research findings are false’, PLoS Medicine, e124. —— (2006) ‘A road map for efficient and reliable human genome epidemiology’, Nature Genetics, 38, 1: 3–5.
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Ioannidis, J.P.A. et al (2005) ‘A network of investigator networks in human genome epidemiology’, American Journal of Epidemiology, 162: 302–4. Keller, E. Fox (1995) Refiguring Life: Metaphors of Twentieth-Century Biology. New York: Columbia University Press. Kevles, D. J. and Hood, L. (1993). The Code of Codes: Scientific and Social Issues in the Human Genome Project. Cambridge, MA: Harvard University Press. Landecker, H. (2007) Culturing Life: How Cells became Technologies. Cambridge, Ma: Harvard University Press. Lewontin, R. (2000) The Triple Helix: Gene, Organism, and Environment. Cambridge, MA: Harvard University Press. Lewontin, R., Rose, S. and Kamin, L.J. (1984) Not in Our Genes: Biology, Ideology and Human Nature. New York: Pantheon. Lock, M. (2005) ‘The eclipse of the gene and the return of divination’, Current Anthropology, 46: S47–S70. Martinez, F.D. (2007) ‘Gene-Environment Interactions with Asthma, with Apologies to William of Ockham’, Proceedings of the American Thoracic Society, 4: 26–31. Montoya, M. (2007) ‘Bioethnic conscription: genes, race, and Mexicana/o identity in diabetes research’, Cultural Anthropology, 22, 1: 94–128. Nature editorial (2006) ‘Coping with complexity’, Nature, 441 (25 May): 383–4. Nature Genetics (2006) ‘Embracing risk’, Nature Genetics, 38, 1 (January): 1. Noble, D. (2007) The Music of Life: Biology Beyond the Genome. Oxford: Oxford University Press. PLoS Medicine editors (2005) ‘Why bigger is not yet better: the problems with huge datasets’, Public Library of Science Medicine, e55. Sapp, J. (2003) Genesis: The Evolution of Biology. Oxford: Oxford University Press. Senate Committee on Energy and Natural Resources (1987) Workshop on Human Gene Mapping. Washington, DC: US Government Printing Office. Shields, A., Fortun, M., Hammonds, E., King, P., Rapp, R., Lerman, C. and Sullivan, P.F. (2005) ‘The use of racial categories in genetic studies of smoking behavior: implications for reducing health disparities’, American Psychologist, 60, 1 (January): 1–27. Stone, R. (2002) In the Next Galaxy. Port Townsend, WA: Copper Canyon Press. Vukmirovic, Ognjenka Goga and Tilghman, Shirley M. (2000) ‘Exploring genome space’, Nature Biotechnology, 405 (15 June): 820–2. Watson, J.D. (2003) DNA: The Secret of Life. New York: Alfred A. Knopf.
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18 Introduction Expressing the gene: the discursive and institutional regulation of genetics Andrew Webster
The phrase ‘genetic regulation’ normally refers to the biological process whereby genes are said to regulate the structure and function of proteins, cells and whole organisms, even their behaviour. Gene expression regulates the normal and – where mutating – abnormal or pathological performance of cells: the so-called oncogene, for example, is said to be key to the origin of mutations that cause cancer. But this ‘language of the genes’ is itself an expression of the structure and function of scientific research and an emergent genetic paradigm that has become – though not entirely so (see Stotz et al. 2006) – consolidated through the Human Genome Project. In other words, as Landecker (2005) has shown, there is a recursive relationship between the ways in which biological objects, such as genes, are described and the very experimental infrastructures and languages which produce them. Within this context, regulation is about the management of risk, a move to order the potentially disordering (Foucault 1977; Douglas 1966). The recursive relation between biological and social framings of genetic regulation means that regulation is expressively hybrid: this is reflected in science studies itself by terms that point quite deliberately to such hybridity, as in Lynch and McNally’s ‘biolegality’ coined in one of the forthcoming chapters. This recursivity can be found to operate within a number of different domains of regulation. These can, for the sake of simplicity (for these cut across each other) be described as the domains of the individual, collective, economic and political ‘bodies’. What is common to these is that genetic regulation rather than being a reductive, simplifying process, involves ever more proliferation of identities, rather than the closing down of them, and so makes for sites of political and regulatory struggle. Each of the chapters ahead focuses on different framings of genetic identity – in the law, forensic databases, and recent developments in biobanking. This argument presumes that there is something quite distinctive about the regulatory dynamics of genetics that is a reflection of its biological determinacy, the information about a person (and wider family) this renders and the social need to respond to it. There have, however, been many criticisms made of ‘genetic exceptionalism’ (see e.g. Hedgecoe) and McLean’s paper later on discusses some of these in detail. Often such criticisms are of a normative nature and stress the need to refocus attention on much broader questions about access to health resources, the avoidance of all forms of discriminatory 263
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practice and so on. Others point to the ways in which non-genetic disorders (such as HIV) can generate similar problems for the individual suffering from this condition. Recognition of these arguments by the state can, at times, lead to policy which explicitly seeks to pre-empt any form of genetic exceptionalism. Despite this critique of genetic exceptionalism, the specific agency of genetics is instantiated and expressed through a growing repertoire of clinical, public health, research-based, commercial and state-based practices and organisations. So while genetics may not, in principle, be exceptional it is certainly highly visible, and a site for, and vehicle through which, various forms of regulation are practised and (to a degree) secured. Echoing the observation above, we can consider the regulation of the clinical body through the rapid growth of diagnostic tests, genetic screening and therapies. Regulation here is evidently hybrid, a move towards identifying and if possible intervening to resolve genetic predisposition towards a specific disease, while at the same time a social intervention that involves the deployment of categories of the normal and abnormal. These socio-technical categories legitimate and enable clinical interventions calculated on the basis of either public health or private markets. These calculations are based on radically different priorities such that the discursive relation between gene, test and outcome, and how this is regulated varies considerably. Moreover, the utility threshold that genetics must reach is higher in public than it is in more market-based systems. Within each of these regimes the practice of regulatory genetics can also vary: in public health genetics services the relationship between tests, risk calculation and local circumstances (such as ethnic profile of the local population, household and family patterns, availability of support services) can vary dramatically within and between countries. The regulation of the ‘collective body’ is less about the testing of individual genetic profiles and predispositions and more about the creation of population-wide genetic profiles to secure information about the epidemiology of disease or patterns of social behaviour. Tissue repositories, databases and biobanks are designed to create large-scale datasets on both biological and health-related (phenotypic) information derived from donated blood, urine or other tissue samples (Lewis 2004; Webster et al. 2008). Knoppers et al. (2007) and Gibbons and Kaye (2007) have noted how this represents the transition from genetic to genomic research dependent upon bioinformatics and high-throughput sequencing technologies. The next phase of research is likely to involve the study of ‘normal’ genomic variation across whole populations and complex gene-lifestyleenvironment interactions, but undertaken on a global scale through extensive scientific networks. As Gibbons and Kaye comment: Population genetic databases are intended to be accessed and used over the course of several decades by any number of different researchers, potentially located anywhere around the globe, whether based in the public, charitable or commercial sectors, and who may engage in as yet unknown and entirely unforeseeable kinds of research. (Gibbons and Kaye 2007: 202) The regulation of such repositories has been a major area of policy development over the past five years in terms of sample procurement and consent, anonymity of data, quality assurance, third-party access and benefit sharing. The globalising processes at work – such as moves towards the international standardisation of banking practices – both stabilise 264
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regulatory regimes around a set of core operating principles but at the same time provide an opportunity for tensions and conflict to emerge in regard to competing criteria and inconsistent practices being followed in different countries. The role of genetic regulation of the collective body goes beyond matters relating specifically to health. This is where we see how individual and collective domains cut across each other. For example, genetic testing is used in order to establish familial relationships in disputed immigration applications, or, as has been argued with respect to India (Gupta 2007), screening can act as a form of ‘public eugenics’ (in the social management of thalassaemia). Forensic databases are used as a source of information for policing existing and prospective criminals (and in the UK case at least, the retention of information on those who have been exonerated of any crime). Such repositories enable the surveillance of criminal suspects (Williams and Johnson 2008), though this may simply serve to reinforce the inequities in the criminal justice system. The third area where the regulation of genetics is expressed relates to the ‘economic body’: here information about genetics informs industrial investment (as in pharmacogenomics), the management of risks (as in life and health insurance policies) and ownership and identity claims to property and responsibility (as seen increasingly with paternity tests). Genetics here is, as elsewhere, a highly contested terrain and the regulation of information about potential economic values swings around individual property/ privacy rights versus the proprietary rights associated with intellectual property or actuarial risk. The state performs a precarious balancing act negotiating between these civil and corporate interests that may lead to matters being put into a regulatory limbo – such as the moratorium in the UK with respect to genetic information for life insurance purposes. At the same time, commercial products anchored into different readings of genetics become more diverse as the relative risk and so cost and value of genetics becomes increasingly differentiated by ‘market segment’ (Van Hoyweghen 2007). Finally, we can understand regulatory genetics expressed within the formal ‘political body’ of state and inter-state agencies and institutions that shape government policy and its diversity globally. This is inscribed in the language of ‘directives’, legislative acts, international regulation over patentability of genetic information and over genetic discrimination and so on. Regulatory discourse and practice varies, however, between countries despite the frequent calls made for harmonisation (within the European Union, for example). This should perhaps be not surprising given that the genetics landscape is complex and made up of what are often competing clinical, collective and economic interests. Moreover, in poorer countries, the institutional and economic infrastructure needed to introduce and sustain genetics policies that are inclusive rather than marginalising can be difficult to build. This raises global questions about regulatory capacity that will need addressing more fully in the future.
References Douglas, M. (1966) Purity and Danger. London: Routledge and Kegan Paul. Foucault, M. (1977) Discipline and Punish: The Birth of the Prison. Harmondsworth: Penguin. Gibbons, S.M.C. and Kaye, J. (2007) ‘Governing genetic databases: collection, storage and use’, Kings Law Journal, 18: 201–8. Gupta, J.A. (2007) ‘Private and public eugenics: genetic testing and screening in India’, Journal of Bioethical Inquiry, 4: 217–28.
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Hedgecoe, A. (1998) ‘Geneticization, medicalisation and polemics’, Medicine, Healthcare and Philosophy: A European Journal, 1, 3: 235–43. Knoppers, B.M., Bédard, K. and Abdul-Rahman, M.H. (2007) ‘Genomic databases and international collaboration’, Kings Law Journal, 18, 2: 291–93. Landecker, H. (2005) Living differently in time: plasticity, temporality and cellular biotechnologies, culture machine (online journal: http://culturemachine.tees.ac.uk/frm_f1.htm) Lewis, G. (2004) ‘Tissue collection and the pharmaceutical industry’, in R. Tutton and O. Corrigan (eds) Genetic Databases: Socio-ethical Issues in the Collection and Use of DNA. London: Routledge. Stotz, K., Bostanci, A. and Griffiths, P. (2006) ‘Tracking the shift to “postgenomics”, Community Genetics, 9: 190–6. Van Hoyweghen, I. (2007) Risks in the Making: Travels in Life Insurance and Genetics. Amsterdam: University of Amsterdam Press. Webster, A., Brown, N., Douglas, C. and Lewis, G. (2008) Public Attitudes to Third Party Access and Benefit Sharing: Their Application to UK Biobank. London: Wellcome Trust. Williams, R. and Johnson, P. (2008) Genetic Policing: The Use of DNA in Criminal Investigations. Uffculme: Willan Publishing.
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Genetics Law and regulation
Sheila McLean
Introduction The UK’s Human Genetics Commission has said: We all share the same basic human genome, although there are individual variations which distinguish us from other people. Most of our genetic characteristics will be present in others. This sharing of our genetic constitution not only gives rise to opportunities to help others, but it also highlights our common interest in the fruits of medically based genetic research. (Human Genetics Commission 2002: para 2.11) Despite this rather benign account of genetics it remains the case that the search for genetic information and associated products is in its own way highly controversial. Nor is this is only (or even predominantly) the case in respect of the diagnostic capacities and therapies that might emerge from advances in genetic knowledge. It can also relate simply to the collection or possession of genetic information. Concerns, for example, about the possibility of discrimination based on genetic information are widespread; will employers and insurers unfairly differentiate between us and others because, for example, of a predisposition to certain genetic conditions? Equally, the growth of genetic databases, which is considered elsewhere in this book, also raises concerns. For example, McHale notes that ‘[f]or some people the prospects of their genetic information being stored and used for scientific research purposes may be regarded as objectionable, unethical and as an infringement of their human rights’ (McHale 2004: 71). Thus, the mere existence of information about genetic make-up is sufficiently bothersome to make some people anxious. While some see the so-called genetics revolution as the holy grail of modern medicine, others approach the entire area with trepidation. Given the volumes of literature written on the subject, it might be thought that the genetics ‘revolution’ is more profound than any other scientific or human enterprise witnessed over the centuries – more life-changing than the industrial revolution and more exciting than the space race. The perception of genetics as uniquely problematic dogs attempts to focus clearly on the prospects that advances in this area may hold out in terms of therapies – even cures – and epidemiological and other research. Concern about 267
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the potential uses and abuses of genetic information resonates widely throughout different populations. It is, of course, often the case that scientific and clinical advances are greeted with anxiety rather than excitement. One need only think about the hyperbolic panic spawned by the birth of Dolly, or the fervour with which some people resist the developments in assisted reproduction, to appreciate that concerns – whether or not realistic – about scientific advances are commonplace and this is not confined simply to the general public whose information may be skewed by uninformed or misleading coverage or the polarised views of pressure groups – even scientists themselves. In another context, Lee (2005) claims that anxieties about scientific progress are ‘not driven by general public concerns, but by the fears of the scientific and political elite’, which ‘has expressed caution and concern at every turn, and encouraged a particular kind of debate that gives great prominence to notions of vulnerability, and the potential problems caused by unintended consequences of new developments’. In part as a result of this reluctance to embrace progress without question (which may be entirely intelligible), scientists have been thrust into the limelight of public and legal scrutiny. They now find themselves centre stage actors rather than the white-coated backroom players of the public imagination. Political ideologies, and the need for votes, have left politicians somewhere in the middle, struggling between esoteric science and public anxieties. Of course, this should be unsurprising. As Murray has said, ‘[e]merging biotechnologies are sure to have social, political, and material effects the likes of which we have not yet even begun to imagine’ (Murray 2007: 13). The fact that these consequences seem inevitable leads to the question as to how, if at all, genetics should be controlled or regulated. Should science simply be allowed to proceed as it chooses, driven by the scientific imperative to discover, or should the possible outcomes be subject to public scrutiny, perhaps even micro-managed to ensure individual and collective safety or appease public fears? It is arguably our inability to conceptualise adequately just where genetic knowledge might take us that generates the effects to which Murray refers. Moreover, global industries have a vested interest in the products of the genetic revolution, intruding commerce into existing legal, social and ethical considerations. As will be seen, the option of non-engagement is not a realistic possibility for the state. Even if only because of the existence of laws designed to govern commercial transactions, some regulation is inevitable. How light or heavy handed the regulatory touch can and should be is, however, more open to debate than is its inevitability. What follows is an account of the kinds of regulation that may be possible, but it must be borne in mind that genetics is not a single enterprise and that different approaches might be necessary or more appropriate to fit different situations. For example, the extent to which we regulate the storage and/or uses of genetic information, and the kind of regulatory regime that is most effective, may bear no relationship to how we deal with the application of any genetic therapies that become available. The former, for example, might best be overseen by a legislative regime or managed by some form of advisory committee, while the latter might be adequately controlled by a combination of professional ethics and laws about consent to medical treatment. In this chapter, it will clearly not be possible to enter into every aspect of the genetic revolution and consider the appropriate regulatory regime for each; rather, some possible regulatory models will be considered and related to different aspects of genetics. Before considering the role of regulation or law further, it is worth asking some fundamental questions. For example, what, if anything, is different about genetics? Why is it 268
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often separated from other medical advances and therapies, sometimes resulting in calls for distinct or special regulation? After all, there are many areas of scientific inquiry and clinical practice which have profound effects on individuals and groups. Yet, it seems, genetics holds a particular place in the minds of public and politicians alike, generating concerns which may (or may not) turn out to be disproportionate to the actual risks posed. This is particularly evident in what has come to be called ‘genetic exceptionalism’. Although legislation has not (yet) proved to be the dominant way of regulating genetics, there is one area in which it has played an important role, particularly in the United States: that is, in the context of discrimination. In an effort to reduce or obviate the potential for discrimination, particularly in the areas of employment and insurance, a number of states have passed legislation specifically targeting genetics. However, many believe that such legislation is at best ineffective and at worst divisive. Why, they ask, should genetics be singled out for special treatment? If insurers and employers are inclined to discriminate they can already do so based on other health-related, but nongenetic, information. In addition, Rothstein points to the fact that ‘[g]enetic-specific laws … reinforce the stigma of genetic disorders (by treating them differently from nongenetic conditions) and ignore the underlying social problems that genetic privacy and discrimination exemplify’ (Rothstein 2005: 30). Suter also addresses the problems associated with genetic exceptionalism, specifically that it ‘leads to unintended inequities between individuals and classes, which raises serious questions about the propriety of public policy based on genetics exceptionalism’ (Suter 2001: 671). Thus, he concludes, ‘[t]he presumption that genetic information is unique is severely tested by the fact that no sharp line divides genetic from nongenetic information’ (ibid.: 701). Even if drawing distinctions between genetic and non-genetic information could be justified, it is also argued that such exceptionalism is in any case ineffective. It has been said that ‘genetic-specific laws have limited value in preventing or redressing harms caused by the uses and disclosures of genetic information’ (Rothstein 2005: 30). Such laws, therefore, may not only stigmatise genetic information and conditions which are genetically influenced, they also fail to tackle root and branch the social and political causes of discrimination and reinforce the public’s concerns about genetic information in general. Finally, this kind of legislation, it is said, ‘supports the fiction that there is such a thing as a “normal” genotype, and that the goal is to change the treatment of people who deviate’ (Wolf 1995: 348).
Regulating genetics It has already been indicated that some form of regulation in relation to genetics is probably inevitable. Even the most benign of human activities is controlled in one way or another – for example, by law, by ethics or by social/political pressures. Before exploring the variety of models available in terms of the first two possible sources of regulation (in its widest sense), it is worth briefly exploring the last. The political ideology underpinning state and government will clearly have an impact on the attitude taken to regulation. In the liberal tradition, the role of the state should be minimal in relation to behaviour that is otherwise private. This is the Millian concept that underpins most so-called liberal Western democracies. While not denying a role for the state, John Stuart Mill’s view was that the state should intervene in private decisions only when failing to do so would cause harm to others. In perhaps his most famous statement, he said: 269
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the only purpose for which power can be rightfully exercised over any member of a civilised community, against his will, is to prevent harm to others. The only part of the conduct of any one, of which he is amenable to society, is that which concerns others. In the part which merely concerns himself, his independence is, of right, absolute. Over himself, over his own body and mind, the individual is sovereign. (Mill 1859: 15) On this account, the individual has a special place. He or she may pursue the goals of individual autonomy unless their behaviour causes harm to identifiable third parties. To a large extent, this approach was adopted in that other controversial area – assisted reproduction – by both the House of Commons Science and Technology Committee (UK) in its report on assisted reproduction (House of Commons 2004–5) and the Joint Parliamentary Committee on the Human Tissue and Embryos (Draft) Bill (UK) (House of Lords, House of Commons 2006–7). There are, of course, two possible objections to the application of this principle. The first, which might have specific significance in respect of genetics, is that this is not in fact a ‘private’ matter. The scientist pursuing his or her research is not only an individual trying to discover purely private information. S/he is a member of a community which may well be affected by that research or its outcomes and which therefore has a legitimate interest in deciding what should and should not be investigated, developed or used. Thus, it might be said, Mill’s philosophy is not applicable in the case of genetics; we are all vulnerable should harm arise and the state, therefore, has a legitimate interest in controlling – even prohibiting – certain behaviour. While this may be true in some areas, of course, it is also an example of the difficulty already referred to of finding a one-size-fits-all approach to regulation in this area. While it can plausibly be argued that epidemiological research into genetic predisposition is a public rather than a private endeavour, it can also reasonably be countered that decisions about whether or not to agree to gene therapies (for example) are self-evidently private and that the state’s intervention in these choices is precluded by the traditions of liberal democracy.1 One further objection to adopting this approach is that harm is not always obvious until it has occurred. Families and individuals who have suffered as a result of participation in genetic trials might reasonably argue that they have indeed been harmed. However, the Millian account requires harm to others – a consenting, informed adult who agrees to participate is not an ‘other’ for the purposes of Mill’s argument. At the opposite end of the spectrum is the view that the state has a legitimate role in closely monitoring and controlling the behaviour of its citizens, mandating intimate scrutiny of activities – individual or collective. This intervention is further legitimised, it might be argued, by the fact that the public seems generally to be cautious about scientific advances and is sometimes reluctant to accept them without intense scrutiny. Of course, working out precisely what the public does actually think about genetics is not an exact science. Black, however, suggests that, public surveys show that acceptability is linked, inter alia, to the perceived need of the technology or its products, to the interaction of genetic technology with other practices of which the person may not approve, and to the attitude taken to the wider social impacts it is perceived that the use of genetic technology will have. (Black 1998: 630–1) 270
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The emphasis to be given to the assumed benefits and drawbacks of the genetics revolution may therefore be decided upon by legislators based upon their understanding of what the public will tolerate, thereby shaping the extent to which they believe regulatory intervention is necessary or desirable. A number of agencies within societies, then, will influence the kind of regulatory regime that is taken to be appropriate. These, according to Suter, are symbiotic: legislators respond to public concerns, media stories, and scientists’ messages, even as their legislation provides news material and shapes public views. In the end, a confluence of factors and institutional forces individually and synergistically shape and reinforce the notion that genetic information is uniquely threatening and susceptible to misuse. (Suter 2001: 674) Particularly if coupled with an interventionist state philosophy, the regulatory regime may impede the genetics venture based on what Webster and Nelis refer to as ‘a reflection of distinct policy regimes’ (1999: 302). Given that different cultures will have different policy agendas, this may also result in dramatic differences between nations, with potentially far-reaching effects on the science of genetics itself. Moreover, depending on the kind of regulation imposed, there may be a lack of sensitivity to the fact that ‘what needs regulating, and how, is a shifting story because of normative change over time’ (Webster and Nelis 1999: 302). It is not, therefore, only the minutiae of regulation that may be problematic. It is also necessary to evaluate the wider social and political agendas which directly inform regulatory traditions themselves. Added to this is the question as to the functions and outcomes that are expected of regulation itself – whatever form it may take. Huhn proposes that there are three main regulatory frameworks which might be applied to genetics (Huhn 2002). First, is the approach from individual rights and duties. This approach (similar to that espoused by Mill) would entail that ‘[a]ctions to enforce individual Rights and Duties are initiated by individuals … The law makes no attempt to prevent harm other than to deter it by acknowledging the right of an affected person to sue for damages’. A second approach ‘is conducted by administrative agencies and results in a higher level of scrutiny over genetic technology’ (2002: 3). Finally is what Huhn calls ‘legislative preemption’ (2002: 4). This approach is based on the precautionary principle which, according to the European Commission, covers those specific circumstances where scientific evidence is insufficient, inconclusive or uncertain and there are indications through preliminary objective scientific evaluation that there are reasonable grounds for concern that the potentially dangerous effects on the environment, human, animal or plant health may be inconsistent with the chosen level of protection. (Commission of the European Communities 2000: 10) Even conceding that a true definition of this principle may be difficult to achieve, the Commission concludes that: when there are reasonable grounds for concern that potential hazards may affect the environment or human, animal or plant health, and when at the same time the 271
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available data preclude a detailed risk evaluation, the precautionary principle has been politically accepted as a risk management strategy in several fields. (Commission of the European Communities 2000: 9) Huhn concludes that the use of this principle ‘operates as a virtual ban’ (Huhn 2002: 4). Initially, this tripartite schema will be used as the basis for the discussion that follows, although I will re-name the first approach ‘the approach from minimalist intervention’ in order to broaden the discussion a little. However, it will be also necessary to look beyond Huhn’s proposal so that a wider range of possibilities can also be canvassed.
Minimalist intervention Given that a total lack of regulation is highly unlikely, we must now focus on what kind of regulation is best suited to the subject matter. That regulation is probably inevitable need not be problematic, depending on what purpose is served by it. For Black, ‘[r]egulation has an important role to play in connecting the arguments of participants, in facilitating the integration of the wide range of views as to the appropriate course that the technology and its regulation should take’ (Black 1998: 621). Traditionally, science (and particularly medicine) has been subject to relatively minimal regulation, certainly from outside of the relevant professions themselves. Perhaps unsurprisingly, professionals often prefer such regulation as is necessary to come from within their own profession. The intervention of outsiders is seldom welcomed – the presumption that follows from the possession of a discrete body of knowledge and expertise is that professionals are best suited to regulate each other and themselves. However, such regulation suffers from a number of flaws: The perpetuation of regulatory territory as a uniquely scientific domain can be seen as an attempt to preserve the technocratic definition of the policy community of biotechnology governance and protect it from broader social and political pressures. What this ignores is the clear evidence of the GMO experience that the moral and cultural concerns of citizens and consumers act as a veto on product acceptability regardless of perceptions of risk and use. (Salter and Jones 2002: 337) Further, the right to self-regulate is said to rest on the inability of outsiders knowledgeably to judge the behaviour of the professions: the gap between their knowledge and ours mandates internal regulation in the majority of cases. It is very much in the tradition of professions that they are accorded considerable autonomy. Indeed, Davies notes that external regulation of professions, such as medicine, is sometimes argued to be inappropriate, ‘because the discretion much professional judgement entails is beyond the understanding of those outside of the profession, and is usually undertaken away from the visible aspects of professional practice’ (Davies 2007: 5). Moreover, professions develop codes of ethics which enshrine principles designed to elucidate and ensure best practice and provide a second source of support for professional self-regulation. However, not all commentators are entirely satisfied with this account. Codes of ethics and professional ‘etiquette’ are also reflective of the ethos of the professional group itself. Davies claims, for example, that the ethics of medicine have ‘become dominated by the 272
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individualistic aspects of virtue and duty’, while the ‘“common good” has generally been neglected’ (2007: 8). This assertion, if true, might suggest that self-regulation does not provide an adequate framework for the regulation of genetics – which is arguably concerned with much more than merely individuals and which will almost certainly have a wider social impact. Further, self-regulation may be elitist. As Black says: For a negotiation to occur which fully recognises and gives standing to other voices, there is a need for a reorientation of the cognitive aspect of regulation. This requires in part a re-conceptualisation of the view that ‘expert = objective, lay = irrational’. (Black 1998: 622)
Regulation by committee/advisory body Although the history of medicine shows a lack of direct regulation, the more controversial areas of medical practice have recently become subject to closer scrutiny. For example, in what was a relatively unusual move, Parliament passed the Human Fertilisation and Embryology Act 1990 (ammended 2008) which, albeit reasonably gently, constrains the freedom of scientists and clinicians to do as they choose, even to the extent of prohibiting certain kinds of research in the areas of reproduction and embryology. The law is administered by a body created by statute, whose decisions are ultimately subject to the scrutiny of the law. This model broadly equates to Huhn’s administrative category and is an increasingly common way of scrutinising practices while at the same time not being based purely and simply in law. One obvious problem of relying on this kind of regulation is the potential for difference and dissonance between the various bodies that have existed, or still remain. Another is the extent to which – having decided on what and how to regulate – such bodies in fact have the power and authority to enforce their guidance and gain the respect of the professionals they seek to regulate. As Baldwin and Black say: An important test of a regulatory theory is whether it offers assistance in addressing the challenges that regulators face in practice. In the area of enforcement, those challenges are numerous and severe. Resources are often thinly spread and errant behaviour is difficult to detect. Regulatory objectives are not always clear and legal powers may be limited. Enforcement functions are often distributed across numbers of regulators who struggle to co-ordinate their activities. Further, it is often extremely hard to measure the success or failure of regulation. Even if such measurement is possible, it may be very difficult to improve the regulatory system by adjusting enforcement strategies and legal powers. (Baldwin and Black 2008: 59)
Regulation by law Brownsword et al. note that ‘[o]n the face of it, the legal community, with its tendency towards gentle incrementalism, is not particularly well-equipped to handle any kind of 273
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revolution, let alone a revolution of the proportions indicated by modern genetics’ (Brownsword et al. 1998: 593). Moreover, Magnusson point out that ‘perceptions about the proper boundaries of law’s role will shape perceptions of what law can do, in an operational sense, to improve health outcomes’ (Magnusson 2007: 571). This lies at the crux of the matter. While accepting that the law does have a role to play in managing human behaviours – including science – one’s philosophical or political agenda will drive the extent and nature of that involvement. Laurie argues that law is ‘simply a social tool. It is a device which is used to further certain interests and to support certain social values and “goods” in our community’ (Laurie 1999: 333). Indeed, law is now generally seen as much more dynamic and complex than simply a set of rules and its interpretation may be less than certain. Black, for example, argues that: seeing legal rules as just one set of norms competing with others that derive from other systems, and their application as the product of moral and social attitudes of officials, shaped by organizational and bureaucratic ethos and subject to economic constraints and the vagaries of the political process, is the (not so) new orthodoxy. (Black 1997: 51–2) Thus, it cannot be assumed either that law is only a set of rules, or that these rules come without a context. Moreover, law can take a variety of forms, and testing adherence to its tenets will be subject to different standards. It will also be important that any law which purports to regulate effectively and efficiently is based on principles which are relevant and applicable to what it seeks to regulate. Yet, Mannion argues that all too often law drives ethics, rather than the other way round. Moreover, he claims that science too often ‘roars far ahead – often oblivious to or, at best, reluctantly making polite noises to, the ethical and social implications of its own scientific developments’. Thus, he proposes, it is also the case that science drives law, which then ‘dictates to ethical bodies and seeks to constrain – often heavily so – the ethical ‘limitations’ placed upon public policy and developments in science, technology and medicine’ (Mannion 2006: 233). Most commonly in medical matters the rules of law which will be engaged are based on common, or non-statutory, law. Thus, professionals are permitted to practice according to their professional codes, and using their professional expertise, with law becoming involved only when allegations are made that specific duties have been breached. Most usually this is dealt with by the law of tort, which is that branch of the law which seeks to restore individuals to the position they would have been in had the specific duty in question not been breached. Of course, since any compensation awarded is virtually exclusively financial, it must be doubted whether or not this is achievable. In the area of genetics, the common law might, for example, be invoked to challenge the amount of information given to a patient prior to participating in a clinical trial of gene therapy or before seeking agreement for genetic tests. Failure to provide adequate information, based on whatever the national legal test for this happens to be, might result in damages being awarded should the individual be harmed as a result of the test, trial or therapy. Alternatively, common (non-statutory) law would deal with other issues, such as allegations that a therapy has been negligently administered, or with allegations that patient confidentiality has been breached. While undoubtedly a useful tool for righting certain kinds of wrongs, the value of the common law in the area of genetics is likely to be limited to righting personal, individual wrongs such as those mentioned briefly above. It is, however, doubtful whether this kind 274
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of law is capable of addressing the broad range of issues raised by genetics. For example, in most jurisdictions statute law governs the liability of manufacturers of products, including genetic products. Statute may also set the standards relating to the obtaining, storage, use and dissemination of genetic information, which, as we have seen, are issues of apparently particular concern to many people. However, legislation can be relatively rigid – once prohibitions or parameters (however loose) are in place, they are hard to change. In a field which advances as rapidly as genetics, this may prove problematic. In the area of reproductive genetics, for example, Caulfield et al. say: Too often, we believe, the search for a regulatory response to certain scientific developments has led governments to adopt simple bans and prohibitions. We recognise that this approach is often a result of political or jurisdictional constraints or the result of political or jurisdictional constraints or the result of a lack of other regulatory options. Using the law in such a manner is, however, frequently an inappropriate means of regulating behaviour in this complex and dynamic area. With rare exception, legal prohibitions are blunt – that is, they tend to be either overly permissive or overly restrictive – inflexible, and incapable of reflecting the depth and diversity of ethical views inextricably linked to the policy debates surrounding reproductive genetics. (Caulfield et al. 2004: 414) As knowledge moves forward, legislation may seem to be static, even obsolete. If national law is judged inadequate – at least in some situations – to respond to the plethora of issues raised by genetics, perhaps the way forward is to look to the international community for assistance in setting standards and providing guidance. At this stage, we must look beyond Huhn’s schema and explore other potential sources of regulation.
Supra-national regulation The so-called genetics revolution is by no means only a national phenomenon. Salter and Jones, for example, note that: Civil society, science and industry all have a political interest in the creation of human genetics knowledge, its industrial application and its theoretical potential. Sometimes those interests may overlap, on other occasions they may be completely incompatible. It is the political function of both state and the supra-state regulation of human genetics to find a way of negotiating, and hopefully resolving, the tensions between the different interests. In so doing, the regulatory institutions concerned face an array of shifting political forces which place conflicting demands on the apparatuses of governance in terms not only of the outputs required but also on the means by which these outputs are achieved. (Salter and Jones 2002: 326) Recognising the diversity of interests involved might seem to point to the need for regulation that is external to individual states. However, supra-national regulation shares some of the problems already identified with the administrative model. First, 275
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international or regional agreements may represent the lowest common denominator approach to regulation. Gaining acceptance for a particular approach across a wide range of social, economic and cultural values can result in a watered-down approach, which ultimately satisfies no-one. Second, interpretations of supra-national norms may vary with cultural and political regimes. The Independent Expert Group of the European Commission believes that the future lies in regulating ‘in a way that recognises both the need for new tests and the importance of safety, clinical validity and reliability’ (European Commission 2004: 11). While difficult to disagree with this statement, it is also hard to put flesh on its bones. How is this balance to be struck? Will it be the same in different countries? For example, while stem cell research proceeds apace in the United Kingdom, it is banned from receiving federal funding in the United States. How is ‘need’ to be assessed? Moreover, lack of political will can limit the effectiveness of supranational regulation. International human rights should therefore be of particular relevance here. Yet, Robinson claims that ‘little has been done to date within the framework of international human rights norms to protect and promote the interests of those who are currently excluded from the perceived benefits of globalization’ (Robinson 2003: 7). This, she says, is the result of ‘failures of governance’ (ibid.: 8) on the part of both developed and developing countries. Further, Benatar argues that: failure to achieve human rights more widely is not the result of an inadequate concept of human rights, but rather that the full potential of the human rights approach has not been achieved because of simplistic or insincere use of the term, and a lack of commitment by powerful nations to what a more wholesome concept of human rights means and implies for them as well as for others. (Benatar 2002: 3) Genetics requires that this trend is turned around, since ‘it has been acknowledged for some time that “knowledge” is the most important global factor in determining standards of living in today’s world, and the new genetics is becoming a major contributor in the twenty-first century’ (Glasner and Rothman 2001: 247–8). In essence, supra-national declarations provide aspirational models, but built into them ab initio is the undeclared recognition that not every state will respond in the same way, that the principles espoused will often be the lowest common denominator rather than optimal and that different value systems will prioritise different aspects of any agreement purportedly reached. Salter and Jones note that ‘human genetics poses novel regulatory problems for the EU’s governance community as it seeks to reconcile the conflicting political demands of civil society, science and industry’ (2002: 325). Finally, international declarations are often not directly enforceable. Thus, the Universal Declaration on the Human Genome, while full of fine principles, may yet prove to have limited effect because there are ‘many obstacles to achieving the high ideals expressed in this document’ (Benatar 2002: 2). Not everyone agrees, however, that unenforceability is necessarily a problem, arguing that criticising international declarations as having ‘neither the ability to punish violations nor the ability to enforce compliance’ is an error, because ‘[i]nternational law cannot be properly compared to domestic law; they are related yet different creatures’ (Knowles 2001: 258). While this may be theoretically true, it is little comfort for those who seek certainty from international or supra-national agreements. 276
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Typically, international declarations derive from a general commitment to human rights, which will be discussed in more depth in what follows. Their impact has been described as being to ‘prompt national action and the passage of national laws’ (Knowles 2001: 254) This is, of course, not always the case. However, there is one shining example of how supra-national declarations can have a direct regulatory impact at national level. In 1998, the United Kingdom adopted into law the European Convention on Human Rights. Although UK citizens had been able to take advantage of these rights since the UK signed up to the Declaration, the passing of national legislation made access to the Convention rights and the corresponding enforcement apparatus simple and direct. Since its incorporation, UK legislation has to be certified as compatible with the terms of the Convention and UK citizens have a direct path to the European Court of Human Rights to air their grievances (after exhausting domestic remedies). In the sphere of genetics, it seems likely that the Convention right most likely to be of interest is Article 8: the right to private and family life. This right – often referred to as the ‘privacy right’ – might, for example, be called into play were efforts made to enforce the disclosure of genetic information to family members on the grounds of its potential relevance to them. Whatever ethical position one might take on this question, unless one of the derogations from Article 8 (such as a threat to public health or morals) can be established, the right of the individual to treat genetic information as private would almost certainly be upheld.2
Human rights Increasingly, people resort to the language of human rights when seeking to stake claims. Knowles says that ‘the language of human rights has great rhetorical, moral, and popular force’, but also points out that ‘human rights instruments are predicated on the existence of strong, legitimate, and responsible governments’ (2001: 254). While states will generally agree on the importance of securing human rights, the method and extent of their translation into reality may be less unanimously conceded. Statements of rights are subject to interpretation as are the means by which citizens (or states) may claim them. Although the language of human rights has become arguably the dominant rhetorical and practical device, particularly since the end of the Second World War, it is not without its critics. While no-one would deny the value of human rights language and its related claims, some believe that the concept itself is based on challengeable assumptions which will profoundly affect its impact. Kapur, for example, says: belief in the transformative and progressive potential of human rights is contingent on an assumption that we have, as a civilised world, moved forward, and that the coming together of nation-states in the recognition of universal human rights is a critical part of the liberal project that seeks to advance individual rights and human desires. (Kapur 2006: 668) Still others believe that rights language is essentially atomistic and confrontational, particularly as it often uses the concept of autonomy as its basic tenet – the right of every individual to act in a self-determining manner. The emphasis on autonomy is particularly criticised by feminists, who have adopted the position that it is essentially a male concept, emphasising as it does rationality and separateness. While feminists do not deny the value of concepts such as autonomy, they would prefer that it be reconfigured to take account 277
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of the inter-relatedness of people with each other and their communities. Jackson, for example, argues that we should not perceive people as existing in a ‘sort of social and cultural vacuum, with needs and interests that emerge and can be satisfied without reference to the needs and interests of others’. Rather, she proposes, ‘we should perhaps think about how we might reconfigure autonomy in a way that is not predicated upon the isolation of the self-directed and self-sufficient subject’ (Jackson 2001: 3). Arguably, this position is of particular relevance to the genetics endeavour which shows – if nothing else – how truly alike we are; how (genetically) close we are to people all over the world. Nonetheless, and whatever the benefits of rights-based language, it has been suggested that ‘[a]dvancements in science and technology have so far proved a mixed blessing with respect to the protection of human rights’ (United Nations University 2007: 1). Thus, while it may be true that ‘[t]here are few mechanisms available other than human rights to function as a global ethical foundation’ (Thomasma 2001: 300) it is also true that ‘human rights are norms and practices which can be achieved only if proper historical circumstances are created’ (Fields and Narr 1992: 5).
Bioethics In areas such as medicine and science, human rights norms are generally complemented or supplemented by bioethics. Indeed, Lenoir argues that bioethics is ‘becoming part and parcel of the democratic process in Europe. The public must be able to make informed choices with regard to practices which could endanger the future of our species and the principle of human dignity’ (Lenoir 2006: 5). This relatively new approach translates human rights language into the specific context of medicine and science and seeks to provide a normative account of appropriate and ethical behaviour. Although bioethics discourse is seen by many to have genuine value, O’Neill says that it is ‘not a discipline’ and suggests that it will never become one. Rather, she says, it is ‘a meeting ground for a number of disciplines, discourses and organisations concerned with ethical, legal and social questions raised by advances in medicine, science and biotechnology’ (O’Neill 2002/5: 1). Modern bioethics often focuses on the disciplines of ethics and law, which, although they ‘are inherently different social and communicative systems’ are nonetheless said to be ‘deeply dependent on each other’ (Spielman 2007: 1). Indeed, Wolf argues that ‘[w]e should debunk from the start the notion that law and bioethics are two entirely different fields, two armies approaching each other across a plain. The relationship has long been far more intimate’ (Wolf 2004: 294). In the sense that they are indeed intimately linked, and rest also on human rights norms, bioethics may prove to be a valuable and nuanced way to approach modern genetics and the problems perceived to be generated by the genetics ‘revolution’. Yet this means that bioethics ‘requires legal and institutional platforms for its activities’ (Salter and Jones 2002: 329) In other words, it would need to be integrated into the entire field of governance or regulation. How likely this is, remains to be seen, not least because if O’Neill is correct, it is not yet a discipline. Additionally, bioethicists differ radically in their approaches, making agreeing on appropriate measures extremely difficult to achieve. Nonetheless, there may well be a role for bioethics within any regulatory structure – or at least for the proper recognition of bioethical debate. Discipline or not, bioethics is, or could become, capable of accommodating cultural and social differences, 278
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without falling into the trap of cultural relativism. It seems particularly well suited to genetics, which provides us with a unique opportunity to respect what we share rather than to reinforce what is different about us. Moreover, its interrelatedness with human rights norms serves to reinforce what Falk refers to as ‘an attempt to specify the standards of nonoppressive rule as an entitlement of all peoples, whatever their stage of development, cultural heritage, ideological persuasion, or resource base’, thus acknowledging and accepting ‘the oneness of the human family as a normative premise’ (1979: 4).
Conclusion The speed at which science progresses is one final difficulty in regulating it appropriately and adequately. It has been said that ‘it is in the nature of fast-moving scientific research that its progress can outstrip the ability of its lines of social, ethical and regulatory support to keep up’ (Salter and Jones 2002: 327). If so, then we need to be imaginative about how we can address the consequences of genetics. Skene argues that the most effective method of regulating the problems that may arise from the human genome project is to concentrate, not on the research involved in the project, but rather on the uses that may be made of the information gained from it. (Skene 1991: 248) However, arguably, the science itself can be sufficiently controversial to require mature contemplation, and perhaps even regulation. If regulation is to be effective, it needs to be alert to the subtleties and nuances of the subject matter it seeks to control. While scientists, doctors and other professionals may prefer to be governed by their professional ethics, even the most liberal state will arguably need to play some role in matters of public importance with personal and community implications. Genetics is arguably the paradigmatic case. If we concede that some regulation is both inevitable and desirable – that is we eschew a completely laissez-faire approach – then the question remains: how can we do this? Is there an approach, a discipline, which takes us forward? As I have said elsewhere: Whether the ultimate assessment of the genetics revolution will clothe it in the black robes of the wicked witch or the sparkling tiara of the good fairy will depend on the extent to which societies and individuals can show themselves capable of a mature and measured response to the new genetics. The genie is out of the bottle – there is no turning back. The challenge is to carve a way forward which combines respect for dignity and diversity with concern for individual freedom. (McLean 2001:739) Deciding on how to regulate genetics is not an easy task. Each possible use of genetics, each possible product of genetics and each possible choice about genetics may pose different problems, and seem best resolved by different routes. As Sherwin says, ‘[b]ecause the choice of ethical theory or perspective influences not only the answers we come up with, but also the very problems we perceive, we cannot afford to restrict our vision from the full spectrum of moral problems before us’ (Sherwin 1999: 205). For this reason, a 279
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heavy-handed, prescriptive approach to regulation seems likely to be less satisfactory than one which is able to take account of the ever-changing face of genetics, and the subtleties of the entire genetics enterprise. In the tradition of the liberal Western state, we would be well advised to be cautious about over-intervention and reluctant to overreact to the untested, unproved and unknown risks which so often dominate the public debate. Rather, as Black proposes, we should recognise that regulation can have a positive role to play in generating, encouraging and enhancing multi-disciplinary conversations, with the possibility of achieving a regulatory regime that is ‘fit for purpose’. Thus: Regulation has an important role to play in connecting the arguments of participants, in facilitating the integration of the wide range of views as to the appropriate course that the technology and its regulation should take. (Black 1998: 621) In essence, a mixed regulatory response seems best suited to this area. Common law can protect in certain areas, such as consent, confidentiality and negligence: statute can deal with liability for the genetic products and the protection of data. The remaining issues, including the identification of the fundamental principles which should underpin any regulatory scheme, can be derived from bioethical discourse, informed by legal and ethical considerations and tailored to meet the demands of human rights. What is important, however, is that we identify the ethical principles that underpin the genetics enterprise prior to devising the regulatory framework. In support of this, Mannion says that: we should strive to consider our reactions to such developments long before the scientific and legislative agendas have left ethics behind. So, also, should the impact of scientific developments upon communities always be borne in mind at the earliest possible stage of debate. Hence a plea to place the ethical horse before the legislative cart and, in turn, the legislative horse before the scientific cart. (Mannion 2006: 247) While it is rather late in the day to go back to basics, it is also the case that scientists engaged in the genetics revolution have been – perhaps uniquely – aware of the ethical issues raised by their work; the public has been acutely sensitive to the possible uses and/ or abuses of genetic information; and states have by and large been cautious in how to regulate. There may yet be time to build a regulatory framework that is appropriate, subtle and nuanced in this area.
Notes 1 For information on the number of gene therapy trials currently under way, see www.wiley.co.uk/ genetherapy/clinical (accessed 19 March 2008). 2 For discussion of the ECHR, see Janis et al. (2008).
References Baldwin, R. and Black, J. (2008) ‘Really responsive regulation’, Modern Law Review, 71, 1: 59–94. Benatar, S.R. (2002) ‘Human rights in the biotechnology era 1’, BMC International Health and Human Rights, 2: 3; available at www.biomedcentral.com/1472–698X/2/3 (accessed 16 February 2008).
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Black, J. (1997) ‘New institutionalism and naturalism in socio-legal analysis: institutionalist approaches to regulatory decision making’, Law and Policy, 19, 1 (January): 51–93. —— (1998) ‘Regulation as facilitation: negotiating the genetic revolution’, Modern Law Review, 61: 621–60. Brownsword, R., Cornish, W.R. and Llewelyn, M. (1998) ‘Human genetics and the law: regulating a revolution’, Modern Law Review, 61 (September): 593–97. Caulfield, T., Knowles, L. and Meslin, E.M. (2004) ‘Law and policy in the era of reproductive genetics’, Journal of Medical Ethics, 30: 414–17. Commission of the European Communities (2000) ‘Communication from the Commission on the precautionary principle’, Brussels, 2 February, com(2000) 1; available at http://ec.europa.eu/dgs/ health_consumer/library/pub/pub07_en.pdf (accessed 19 March 2008). Davies, M. (2007) Medical Self-Regulation: Crisis and Change. Aldershot, Ashgate. European Commission, Independent Expert Group (2004) Ethical, Legal and Social Aspects of Genetic Testing: Research, Development and Clinical Applications. Brussels: EC. Falk, R. (1979) ‘Comparative protection of human rights in capitalist and socialist Third World countries’, Universal Human Rights, 1, 2 (April/June): 3–29. Fields, A.B. and Narr, W.-D. (1992) ‘Human rights as a holistic concept’, Human Rights Quarterly, 14: 1–20. Glasner, P. and Rothman, H. (2001) ‘New genetics, new ethics? Globalisation and its discontents’, Health, Risk and Society, 3, 3: 245–59. House of Lords, House of Commons (2004–5) Human Reproductive Technologies and the Law, Fifth Report of Session 2004–5, London, HC 7–1. House of Lords, House of Commons (2006–7) Human Tissue and Embryos (Draft) Bill, Session 2006–7, London, HL 169–1, HC 630–1. Huhn, W. (2002) ‘Three legal frameworks for regulating genetic technology’, Journal of Contemporary Health Law and Policy, 19,1: 1–36. Human Genetics Commission (2002) Inside Information. London: HGC. Jackson, E., (2001) Regulating Reproduction: Law, Technology and Autonomy. Oxford: Hart Publishing. Janis, M.W., Kay, R.S. and Bradley, A.W. (2008) European Human Rights Law: Text and Materials (third edition). Oxford: Oxford University Press. Kapur, R. (2006) ‘Human rights in the 21st century: take a walk on the dark side’, Sydney Law Review, 28: 665–87. Knowles, L.P. (2001) ‘The lingua franca of human rights and the rise of a global bioethic’, Cambridge Quarterly of Healthcare Ethics, 10: 253–63. Laurie, G.T. (1999) ‘Wielding the implement of law: distilling new rights and responsibilities in the age of the “New Genetics”’, Health, Risk and Society, 1, 3: 333–41. Lee, E. (2005) ‘Debating “designer babies”’, available at www.spiked-online.com/Articles/ 00000006DD57.htm (accessed on 11 October 2005). Lenoir, N. (2006) ‘Biotechnology, bioethics and law: europe’s 21st century challenge’, Medical Law Review, 69, 1 :1–6. McHale, J.V. (2004) ‘Regulating genetic databases: some legal and ethical issues’, Medical Law Review, 12: 70–96. McLean, S.A.M. (2001) ‘The gene genie: good fairy or wicked witch?’ Studies in History and Philosophy of Biological and Biomedical Sciences, 32: 723–39. Magnusson, R.S. (2007) ‘Mapping the scope and opportunities for public health law in liberal democracies’, Global Health Law, Ethics and Policy, Winter: 571–87. Mannion, G. (2006) ‘Genetics and the ethics of community’, Heythrop Journal, 47: 226–56. Mill, J.S. (1859) On Liberty. London. Murray, S.J. (2007) ‘Care and the self: biotechnology, reproduction, and the good life’, Philosophy, Ethics and Humanities in Medicine, 2: 6; available at www.peh-med.com/content/2/1/6 (accessed on 23 January 2008). O’Neill, O. (2002/5) Autonomy and Trust in Bioethics. Cambridge: Cambridge University Press.
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Robinson, M. (2003) ‘Making human rights matter: Eleanor Roosevelt’s time has come’, Harvard Human Rights Journal, 16: 1–11. Rothstein, M.A. (2005) ‘Genetic exceptionalism and legislative pragmatism’, Hastings Center Report, 35, 4: 27–33. Salter, B. and Jones, M. (2002) ‘Regulating human genetics: the changing politics of biotechnology governance in the European Union’, Health, Risk and Society, 4, 3: 325–40. Sherwin, S., (1999) ‘Foundations, frameworks, lenses: the role of theories in bioethics’, Bioethics, 13, 3/4: 198–205. Skene, L. (1991) ‘Mapping the human genome: some thoughts for those who say “there should be a law on it”’, Bioethics, 5, 3: 233–49. Spielman, B.J. (2007) Bioethics in Law. Totowa, NJ: Humana Press. Suter, S.M. (2001) ‘The allure and peril of genetics exceptionalism: do we need special genetics legislation?’, Washington University Law Quarterly, 79, 3: 669–748. Thomasma, D.C. (2001) ‘Proposing a new agenda: bioethics and international human rights’, Cambridge Quarterly of Healthcare Ethics, 10: 299–310. United Nations University (2007) available at www.unu.edu/unupress/unupbooks/uu06he/uu06he0c. htm (accessed 20 April 2007). Webster, A. and Nelis, A. (1999), ‘Regulating the gene: from genetic consumption to regulatory trust’, Health, Risk and Society, 1, 3: 301–12. Wolf, S.M. (1995) ‘Beyond “genetic discrimination”: toward the broader harm of geneticism’, Journal of Law, Medicine and Ethics, 23: 345–53. —— (2004) ‘Law and bioethics: from values to violence’, Journal of Law, Medicine and Ethics, 32: 293–306.
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20 Forensic DNA databases and biolegality The co-production of law, surveillance technology and suspect bodies1 Michael Lynch and Ruth McNally
Introduction In September 2007, Lord Justice Stephen Sedley stirred controversy by suggesting that the National DNA Database (NDNAD) for England and Wales should be expanded to include DNA profiles from all residents and visitors to the UK. Critics objected that Sedley’s proposal ignored civil liberties and privacy concerns, and some raised the spectre of a ‘police state’. However, instead of citing the ‘security’ rationales that have been used in recent years to justify expansions of police powers, Sedley raised a civil liberties concern of his own. He noted that persons from ethnic minority groups, including many individuals who had not committed crimes, were significantly over-represented on the existing database (BBC News 2007). A de facto form of racial profiling was thus associated with the NDNAD, and a universal database would provide a fairer representation of the national population – giving everyone an equal chance of being caught in the web of hitech criminal investigations.2 Several months later, across the Atlantic, other civil liberties and privacy issues were raised when a Los Angeles Superior Court judge permitted the prosecution in a criminal trial to use evidence collected through a practice called ‘surreptitious sampling’. A New York Times report (Harmon 2008) described how detectives sometimes obtain evidence by offering drinks or cigarettes to suspects, and then surreptitiously retrieving the cup or cigarette butt.3 Tiny amounts of skin, saliva or sweat left on the discarded item can then be extracted without first getting consent or a court order to invade the individual’s privacy. The traces of DNA are then developed into a profile, which is compared with available criminal evidence stored on a DNA database. If, for example, the suspect’s profile matches a profile developed from semen recovered from the body of a rape victim, the police then have the evidence they need to charge, and potentially convict, the suspect. This approach to detection is facilitated by two related technical developments: the availability of searchable DNA databases, and the development of highly sensitive DNA profiling techniques that can work with tiny amounts of bodily material. At around the same time, another judge, in a trial in the state of Kansas, quashed a set of DNA-based rape arrest warrants on the grounds that they lacked sufficient specificity. According to the judge, the warrants contravened state law and the US Constitution’s 283
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Fourth Amendment, which ‘require an arrest warrant to contain the name of the defendant or, if the name is unknown, any name or description by which the defendant can be identified with reasonable certainty’. The judge added that a ‘mere listing of DNA loci in the warrant or in a supporting affidavit’ was insufficient to identify a suspect.4 In other states in the US, courts have condoned the use of such ‘John Doe warrants’. These are warrants that name a DNA profile rather than a person as the suspect of a criminal investigation, in order to circumvent statutes of limitation in ‘cold’ cases (Starrs 2000). What did these instances have in common? Though concerning separate issues in distinct jurisdictions, each raised ethical and legal questions about novel uses of biotechnology and bioinformation. Sedley considered questions of distributive justice associated with a criminal database, while the Los Angeles and Kansas courts reviewed police and prosecutorial practices that exploit biotechnology to circumvent legal obstacles. In these and many other cases, biotechnology and bioinformation challenged legal institutions by creating novel possibilities for transmuting and extending the reach of police surveillance and investigation. Such cases exhibit yet another variant of Michel Foucault’s (1978) biopolitics, Paul Rabinow’s (1992a) biosociality and Nikolas Rose’s (2007) biocitizenship: biolegality – a symbiotic relationship between law and biotechnology. Biolegality refers to how developments in biological knowledge and technique are attuned to requirements and constraints in the criminal justice system, while legal institutions anticipate, enable, and react to those developments. This ongoing process redefines the rights and status of the suspect body and the credibility of criminal evidence. In addition, at a micro, or rather molecular, scale, forensic science selectively uses material markers that visualise genomic sequences that have specific legal relevance for identifying suspects, enhancing the probative value of DNA evidence, and circumventing previous legal and civil libertarian controversy about such evidence. Biolegality is a type of biosociality that involves different identity categories than those associated with the biomedical sociality that Rabinow (1992a) describes. Instead of producing ‘at risk’ medical identities, biolegality produces ‘risky’ suspects, ‘pre-suspects’ and ‘statistical suspects’ (Cole and Lynch 2006): individuals and groups who become objects of surveillance and investigation because of the calculability of their likely criminal risk to others – potential victims of crime. The rights of biolegally marked subjects are weighed on the scales of justice against those of past or future victims. Although ‘selves’ are deeply implicated, suspect identity is primarily an object and product of policing and forensic expertise, rather than a technically defined basis for the formation of individual and group identity. One of the features of the biolegal marking of bodies is its potential to expand, driven by diverse logics, potentially encompassing entire populations. This potential is illustrated through an historical analysis of the NDNAD. Notwithstanding occasional reversals, such as in the Kansas court decision, law and biotechnology have worked in tandem to overcome technical and legal obstacles and to expand access to criminal evidence and suspect bodies. Whether or not Lord Justice Sedley’s universal database ever comes to pass, nobody doubts that national DNA databases will grow ever-larger with the inexorable accumulation of profile data from arrests and convictions and the relaxation of categorical eligibility restrictions. National forensic DNA databases have proliferated throughout the world in the past two decades. By 2002, they had been implemented in 41 of Interpol’s member countries, and in 2003 Interpol created the first global database (Interpol 2007). The National DNA Database (NDNAD) for England and Wales has had a leading role since its inception in 1995. For that reason, it will be the focus of this chapter. Like any criminological institution, the NDNAD is bound to distinctive legal, political, and cultural 284
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conditions, but some of the legislative initiatives and policing practices that facilitated its development and expansion in Britain have been adopted in other national and international contexts. Moreover, like many other criminal databases, it has been subjected to an international convergence in technique and investigative practice. Although, as the above examples indicate, there remains considerable unease and a degree of discordance about the way this biolegal technology is being implemented in different jurisdictions, the NDNAD has been a trend-setter for many nations. By reviewing the incremental, mutually attuned, series of technical and legal changes that facilitated the construction and expansion of the NDNAD, we hope to gain broader insight into strains and adjustments that occur when a novel surveillance system is implanted in a liberal democracy.
Biolegality: the co-production of law, science and suspect bodies Launched in April 1995 by the Forensic Science Service (FSS), the NDNAD quickly became an international flagship. It was the first national database, and it remains by far the largest in terms of the proportion of the population it includes (more than 5 per cent), as compared with the next-largest national database in Austria, which contains 1 per cent (Prainsack and Kitzberger 2009). Although the US CODIS database, which was opened in 1999, is now larger in terms of the gross number of entries, it represents only 0.5 per cent of the national population (Nuffield Council on Bioethics, 2007: 9). The NDNAD has been supported by more enabling legislation than other European or North American databases which goes some distance to explain its early initiation and rapid expansion. Most other EU countries have set tougher legal restrictions which, albeit limiting the size of the database, aim at assuring greater protection of citizens’ rights.8 The current form of the NDNAD (see Box 20.1) did not arise by chance. It was the consequence of a series of interdependent developments in forensic science, government policy, policing practices and the law, many of which were enabled or justified by a model of the typical criminal career. From before its inception to the present day, technical developments, government legislation, policing practices and appeal court rulings have worked in concert to facilitate the implementation, operation and expansion of the NDNAD. Conventional fingerprinting has also been enrolled as a precedent for lowering legal regulations on the taking, storage and use of bodily samples for forensic DNA profiling (Cole and Lynch forthcoming). The history of the NDNAD is a clear example of the co-production of social order and technoscience – an ‘idiom’ that Jasanoff (2004, 2005) adopted from Latour (1987) to characterise the way technical developments, laws and political relationships mutually facilitate and implicate one another. Key characters in the unfolding story are: ACPO; FSS and FSS Ltd; the concept of a ‘core set’ of ‘active offenders’; evolving DNA profiling platforms; computerisation; and legislation governing policing and criminal evidence.
Box 20.1 The National DNA Database (NDNAD) The NDNAD contains DNA profiles from three different sources: 1
Casework or scene-of-crime (SOC) profiles of unknown persons developed from crime scene ‘stains’, such as blood, semen, sperm and saliva.
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2 3
Criminal justice (CJ) profiles, which are reference profiles of known persons convicted of, or arrested on suspicion of involvement in, criminal offences. Elimination profiles of ‘volunteers’, from known people, for example, from the village or workplace in which a crime occurred.
Each CJ record in the database includes the following information:
a unique barcode reference number linking it to the stored DNA sample; an Arrest Summons Number, which links it to the record on the Police National Computer; the person’s name, date of birth, gender, and ‘ethnic appearance’ (as assigned by a police officer); information about the police force that collected the sample; information about the laboratory that analysed the sample; sample type (blood, semen, saliva, etc.); test type; DNA profile as a digital code.
Records of volunteer profiles do not contain an Arrest Summons Number, and records of crime scene samples contain information about the crime rather than the (unknown) individual (Staley 2005). Each day, all of the profiles in the database are searched against new entries. The objective of these ‘speculative searches’ is to identify ‘hits’, which is a match (or partial match)5 between a new profile and an existing profile that is then reported back to the relevant police force as intelligence. Matches between profiles from two different crime scenes could mean that the same person was present at both crime scenes. Matches between two CJ profiles could mean that the same person had been profiled twice.6 A match between a CJ profile and a SOC profile may identify a suspect for a crime. Matching profiles could also be a coincidence match between DNA profiles that are identical although belonging to different individuals who are not identical twins. The database is governed by a Strategy Board, comprising representatives of the Home Office, the Association of Chief Police Officers (ACPO), the Association of Police Authorities, the Human Genetics Commission, the National Policing Improvement Agency (NPIA) and the Forensic Science Quality Regulation Unit. In 2007, members were appointed to an independent NDNAD Ethics Group.7 The quality and integrity of the NDNAD is the responsibility of the NPIA NDNAD Custodian Unit. The day-to-day running of the NDNAD is performed by FSS Ltd, a profit-seeking, government-owned company which, together with other commercial laboratories, supplies database profiles. Formerly an executive agency of the Home Office, the Forensic Science Service formally became FSS Ltd in December 2005, although it is still referred to by its trading name ‘FSS’.
Early initiatives and precedents One of the early rationales for developing the NDNAD came from psychological profiles of recidivist offenders and histories of violent criminals such as the notorious ‘Yorkshire Ripper’ Peter Sutcliffe. Sutcliffe was convicted in 1981 of murdering 13 women and assaulting seven others in the north of England from 1975 to 1980. Reconstructions of his criminal career indicated that he had worked his way up from relatively minor crimes to progressively more violent attacks. Police researchers generalised this pattern as a typical trajectory for a violent criminal career characterised by recidivism and crime ‘progression’ (Gaughan 1996: 12–13). Since then, a number of UK databases which index characteristics of serious offences, offenders and their victims have been compiled to assist the investigation of serious crimes. One such index, established in 1986, called the CATCHEM (Centralised Analytical Team Collating Homicide Expertise and Management) database, 286
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contains information from child murder cases committed since 1960 (Home Office 2003: 27). CATCHEM is used to provide investigative support to detectives by predicting suspect and case profiles from victim and offence characteristics. Existing indexes of biometric data provided another resource for forensic DNA databases. Files of fingerprint cards had been used for decades to aid criminal investigations and track recidivists, and Bertillon’s signaletic cards (which recorded information on physical appearance and various bodily measures) had earlier been used for similar purposes. These early biometric and anthropometric indexes were used to link crime scene evidence and information from earlier arrests with individual suspects who, in almost all cases, already were in custody. They were less useful for pursuing suspects who remained at large. DNA profiles stored on a centralised and searchable computerised database promised to be far more useful for identifying and eliminating possible suspects. However, in the late 1980s, a number of technical and legal problems stood in the way of developing and implementing large forensic DNA profile databases. Technical and legal obstacles Invented in 1984, the forensic potential of ‘DNA fingerprinting’ was immediately recognised and rapidly realised.9 1987 saw the first conviction of a rapist using DNA evidence and a year later, Colin Pitchfork became the first murderer to be convicted by means of such evidence, following a mass-screen of 5,000 local men. However, the complex multi-banded images produced by the original technique which used ‘multi-locus probes’ were not easily convertible to stored information on databases. A change in technique to ‘single-locus probes’ (SLPs) enabled the construction of an early database containing 3,000 – 4,000 profiles (Allard 1992; Werrett 1995), and though it was used in actual cases, it was mainly an experimental system because a combination of technical and legal obstacles stood in the way of establishing an effective national DNA database for criminal intelligence.10 Profiling in the late 1980s and early 1990s with the SLP system was labour-intensive and slow (taking several days or even weeks per profile), and it required a relatively large amount of sample, which not only was unavailable for many crime scene stains but also could be difficult to obtain from suspects. This was because, under the law at that time,11 drawing blood or taking a cheek swab was classified as taking an ‘intimate’ body sample, which required a suspect’s consent. Hair samples (apart from pubic hair) were classified as ‘non-intimate’, and so did not require such consent, but if the hair was cut, rather than pulled out with the follicle, the sample rarely contained sufficient DNA for developing a profile. A further legal obstacle was that bodily samples could only be taken in relation to ‘serious arrestable offences’, such as treason, murder, rape or kidnapping. Existing law also impeded the use of a database as an intelligence tool because there was no authorisation to use a suspect’s profile in a speculative search without his or her consent. Without this consent, the individual’s profile could only be used for investigating the particular crimes for which he or she was a suspect, and could not be used in relation to other unsolved, suspectless (‘cold’) crimes. The compound effects of such technical and legal obstacles to the development of an effective forensic DNA database were illustrated in the 1995 appeal case of R v. Nathaniel.12 In 1989, evidence recovered from an unsolved robbery and rape was placed on the SLP database. Two years later Nathaniel was arrested for raping two Danish girls and, upon being informed that refusal could be construed as evidence against him, he consented to give a blood sample from which a DNA profile was developed. Nathaniel was 287
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acquitted of those charges in September 1992, and legislation at the time mandated that his sample and profile should have been destroyed. However, due to a breakdown in communication, his profile was run on a police computer in January 1993, and it matched the profile from the unsolved 1989 robbery and rape. Nathaniel was re-arrested in March 1993, but this time he refused to give a blood sample, and so the police took a hair sample instead, which did not require his consent. However, they cut the hair, rather than pulling it out, and consequently the sample contained insufficient root material to enable full DNA profiling with the SLP system in use at the time. A profile was developed nonetheless, but it showed a slight mismatch between the profiles from the hair and the crime stain, which should have eliminated him. However, he was subsequently convicted for the 1989 robbery and rape in a trial in which the prosecution used as evidence the matching profile from the blood sample taken in connection with the 1991 double rape – the crime for which Nathaniel had already been acquitted. Nathaniel appealed in 1995, and the Court of Appeal quashed the robbery conviction because, in Lord Taylor’s (CJ) words: To allow that blood sample to be used in evidence at a trial four years after the alleged offences when the sample had been retained in breach of a statutory duty and in breach of the undertakings of the defendant must, in our view, have had an adverse effect on the fairness of the trial. It should not in our view have been admitted … [W]e conclude that the wrongful admission of that evidence was fatal to the convictions.
Towards a national DNA database The pilot study with the SLP database highlighted technical and legislative barriers to the efficient operation of a DNA database in criminal detection and conviction. In order to address the technical obstacles, from 1990 the FSS began developing an alternative platform based on the ‘polymerase chain reaction’ (PCR). PCR, colloquially known as ‘DNA photocopying’, is a method for greatly increasing (amplifying) the amount of DNA in a sample. In the late 1980s, it had been demonstrated that by using PCR it was possible to amplify and type DNA from a single hair. Forensic research laboratories throughout the world began to tailor the PCR approach to their needs. In the UK, the FSS developed the ‘Quad’ PCR profiling system based on amplifying four specific places (‘loci’) in the DNA called ‘short tandem repeat’ (STR) loci (Werrett 1995). PCR amplification addressed the problem of small sample size, and STRs reduced problems with profiling old and degraded bodily materials. In February 1994, in an announcement entitled: ‘Cracking Crime through New Technology’, the Home Secretary initiated a database pilot study using the new Quad system (Dovaston 1994a: 6–8; 1994b: 12; 1995: 3) Designed to develop profiles from ‘easily available substances of the body’ which were ‘capable of being reduced to a numeric value and easily captured on a computerised database’, the merits of PCR profiling featured in ACPO’s Police Service Business Case for a national DNA database (Dovaston 1994b: 1). In 1993, having received evidence from across the criminal justice system, the Royal Commission on Criminal Justice (1993) recommended that a national forensic DNA database be established, and the following year the Criminal Justice and Public Order Act 1994 (CJPOA) introduced the necessary amendments to the Police and Criminal Evidence Act 1984 (PACE). 288
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One of the key changes to PACE was the reclassification of mouth and hair samples (apart from pubic hair) as ‘non-intimate’ samples which could be taken without consent. Another was lowering the threshold for sampling, making it lawful for the police to obtain a non-intimate sample from anyone in police detention or custody who was charged with, about to be reported for, or convicted of a ‘recordable’ offence (rather than a ‘serious arrestable offence’) regardless of the relevance of DNA evidence to the particular offence concerned.13 One rationale for lowering the severity threshold was research findings from the Derbyshire Constabulary CATCHEM Project which demonstrated that in more than half the cases of murder where the victim is a child or young woman, the offender had a previous conviction for assault or a sexually oriented minor crime before going on to commit the offence of murder. (Dovaston 1994b: 2) ACPO reported these and other studies to the Royal Commission, citing them as evidence of the typical trajectory of a criminal career characterised by recidivism and crime ‘progression’, for example from vandalism, auto theft and burglary, to armed robbery, rape and murder (Gaughan 1996: 12–13). Such studies formed the basis for ACPO’s recommendation that the threshold for taking samples should be lowered in order to get as many offenders as possible onto the database early in their criminal careers. A third key change to PACE allowed samples, or the information derived from them, to be checked against evidence on file for unsolved ‘cold’ cases, without the suspect’s consent, as already was the case with fingerprints. In support of this ACPO cited wellknown criminal cases where ‘speculative searches’ would have made a difference. These included the aforementioned Peter Sutcliffe (‘Yorkshire Ripper’) and Colin Pitchfork (‘Black Pad Murderer’) cases. The two rape–murders of young girls in Leicestershire villages for which Pitchfork was eventually convicted, occurred in 1983 and 1986 – ‘Black Pad’ was the name of a field in which one of the victims was found. ACPO argued that Pitchfork’s history of prior convictions for minor offences meant that the combination of compulsory profiling and a searchable, national DNA database would have identified him during the investigation of the first murder and thus saved the life of his second victim (Dovaston 1994b: 6). The CJPOA came into force in April 1994. However, the launch of the database was initially delayed to allow the FSS to develop a more discriminating profiling system.14 In May 1995 the first 900 suspect profiles were entered on the NDNAD, using the new ‘Second Generation Multiplex’ (SGM) system, supported by the state’s new DNA sampling, storage and search powers. Populating the database with a ‘core set’ of ‘active offenders’ As noted earlier, ACPO invoked a concept of the criminal career (supported by CATCHEM, among other sources) when it lobbied for legislative changes supporting the introduction of the NDNAD. A related idea was expressed in ACPO’s prediction that: ‘Where DNA material is found at the scene of a crime, it is reasonable to assume that the national DNA database will provide the identity of offenders in over 50 per cent of these cases’ (Dovaston 1994b: 4). This prediction assumed that a relatively small proportion of the national population (what we might call a ‘core set’ of criminals), comprising some 5 million offenders, was responsible for more than half of the crimes 289
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committed.15 Accordingly, after a DNA profile from an actual (or potential) recidivist offender is placed on the database, the police should be able to identify him (the vast majority are men) whenever he again leaves his bodily evidence at a crime scene – and, with the development of newer techniques, less and less trace evidence will be required to identify and convict him or her. In spring 1997, the Labour Party came to power, and in autumn 1999, when the database contained less than one million profiles, Prime Minister Tony Blair announced the government’s intention to expand the NDNAD to three million profiles by April 2004. Between 2000 and 2005, the government invested £240 million in the DNA Expansion Programme to increase the rate of sampling from individuals and from the scenes of high-volume crimes (e.g. burglary and vehicle crime), to fund DNA awareness training for police officers, and provide scientific support personnel (Home Office 2006). The goal of the Programme was to capture the DNA profiles of the entire ‘active criminal population’, claiming that once the population of the NDNAD approached three million, every ‘active offender’ would have been profiled (Home Office 2000). At the end of March 2005, only a year behind schedule, the database had reached the Expansion Programme’s three million target. However, this increase was not only due to investment under the DNA Expansion Programme, but also to legislative amendments which substantially broadened the net for entering and permanently retaining profiles on the database, thus redefining the boundaries and composition of the core set. As noted earlier in connection with the Nathaniel case, prior to the launch of the NDNAD, it was illegal to retain a defendant’s profile on a searchable database if the case was not prosecuted or resulted in acquittal. This restriction remained in place through the 1990s, but was challenged in at least two cases of serious violent crimes when prosecutors attempted to use DNA match evidence from illegal speculative database searches involving the profiles of men initially arrested for minor offences (NDNAD Annual Report 2003/4: 5). The DNA matches were crucial evidence in both trials, and when the judges ruled that the evidence was inadmissible the cases collapsed. In 1999, the House of Lords reviewed the cases and ruled that the profile evidence should not have been excluded just because it had been retained through a breach of law (Williams et al. 2004: 90–2). Subsequently, the very concept of illegal retention was abolished when the Criminal Justice and Police Act 2001 amended PACE so that all legally obtained CJ profiles could be retained on the database and used in speculative searches indefinitely, even in the absence of prosecution.16 Thereafter, for suspects whose samples were collected by the police in England and Wales, entry onto the database became a one-way street,17 a street that was broadened by an amendment under the Criminal Justice Act 2003 making it legal to take CJ samples from arrestees even when they had not been charged, so that ‘offenders’ (sic) can be ‘detected at an earlier stage than would previously have been possible, prior to any charges being brought, with corresponding savings in police time and cost’ (NDNAD Annual Report 2003/4: 6). During 2004/5, arrestees accounted for the taking of an additional 71,600 CJ samples for database profiling (NDNAD Annual Report 2004/5: 10). Once on the database, the CJ records of arrestees are indistinguishable from those of convicted offenders. Volunteers to the core set In 1986 and 1987, Jeffreys assisted the police investigation of the aforementioned ‘Black Pad’ murders in Leicestershire villages. In an often-told story that was chronicled by 290
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crime writer Joseph Wambaugh (1989) in his book The Blooding, more than 5,000 local men gave voluntary ‘elimination’ samples which were analysed with Jeffreys’ early method of ‘DNA fingerprinting’ and compared with semen samples recovered from the bodies of the two victims. The mass screening proved to be a crucial element of the investigation, though not without complications. Early in the investigation, DNA comparisons ‘excluded’ a prime suspect: a mentally imbalanced kitchen porter who gave an ambiguous confession. Though he otherwise might have been convicted, he was released when his DNA evidence did not match the crime samples. Colin Pitchfork, who eventually was convicted of the crime, initially evaded detection by persuading an acquaintance to pretend to be him when submitting a blood sample. His DNA fingerprint was found to match the criminal evidence only after investigators learned of the subterfuge, apprehended Pitchfork and retested him. He then confessed and was given a life sentence. Mass screens continue to be used in the UK, and to a lesser extent in other nations, though the expense and effort involved necessarily limits their use to major cases with unknown suspects who are believed to reside in a relatively confined region with a limited population. Although elimination samples are given ‘voluntarily’, a refusal to give a sample can be used as grounds for suspicion. The Criminal Justice and Police Act 2001 made it lawful to add the profiles of consenting volunteers to the database. Once on the database, such persons are treated in exactly the same way as all the other ‘active offenders’; they effectively join the core set to become ‘statistical suspects’ or ‘pre-suspects’ for future crimes, whose profiles are automatically compared to each new crime scene profile entered onto the database (Cole and Lynch 2006: 50). Who makes up the core set? The expansion of the NDNAD has been legitimated on the basis of its value for criminal justice and public order. However, one of the criticisms of it is that its cost-effectiveness and impact on crime and its detection has not been independently evaluated (Williams et al. 2004). Moreover, the database structure makes it difficult to obtain a clear assessment of who is on it and why. According to the NDNAD Annual Report 2006/7, as of 31 March 2007 the NDNAD contained 4.428 million ‘subject sample profiles’, which, using a 13.7 per cent replication rate, were estimated to represent approximately 3.875 million individuals.18 The vast majority of the profiles were from CJ samples (4.353 million) rather than from crime scene samples (285,848). During 2006/7, 55,217 of 722,464 profiles added to the database were from new crime scenes, of which 49,330 were from volume crimes. The number of volunteer profiles was 22,440, rising to over 26,000 by the end of October (Parliamentary Question 2007). In July 2006, of the 3.5 million individuals profiled on the NDNAD, only 2.3 million had criminal records on the Police National Computer (Parliamentary Question 2006). This implies that the database contained the profiles of 1.2 million people who had not yet been convicted or even cautioned, and who may never be convicted of the crimes for which they were originally arrested. Almost half the profiles loaded during 2005/6 and 2006/7 were from people less than 25 years old, of which 8 per cent were below the age of 14. At the end of March 2007, almost 80 per cent of the subject sample profiles were from men, of which 75 per cent have white-skinned European ethnic appearance. At 7 per cent, ‘Afro-Caribbean’ men were over-represented. Using Home Office statistics (racial category selected by arresting 291
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officer) and census data (racial category self-selected), the Guardian newspaper calculated that the NDNAD contained 37 per cent of the black males and 13 per cent of the Asian males, as compared with 9 per cent of the white males, in the UK population (Randerson 2006). Producing new suspects, reproducing the database in the population at large In March 2008, the match rate for a new crime scene profile with one or more profiles already on the database was 55.5 per cent (NDNAD Annual Report 2006/7). However, this includes crime scene to crime scene matches and matches with multiple ‘suspects’ as occurs when the crime scene profile is only partial, When a speculative search with a full crime scene profile for a serious crime does not turn up a ‘hit’ with a profile already on the database, it is possible to initiate a ‘familial search’ for putative suspect family members by investigating partial matches (Bieber and Lazer 2004). Known individuals on the database whose profiles partially match the crime scene profile are treated as potential blood relatives of the real suspect – the unknown person whose DNA has been found at the crime scene. Familial searching was first used successfully for a long-unsolved homicide case in Wales. An initial search of the NDNAD yielded a partial match with a young man who had been convicted of juvenile offences. He not been born at the time of the murder, and was thus not a possible suspect in the investigation, but police questioned him on the presumption that a close relative might have been the source of the evidence. From questioning the juvenile, the police identified his uncle, Jeffrey Gafoor, as a suspect, even though he had no criminal record. Gafoor confessed to the crime and his profile also matched the criminal evidence. Familial searching also has been used with apparent success in a growing number of other cases in the UK and US (Willing 2005; Cole and Lynch 2006: 52–3; Nuffield Council on Bioethics 2007: par. 6.6). Consequently, the reach of the database extends its network well beyond the people whose profiles are on it, and once again the law has worked in concert with biotechnology to facilitate that expansion. Familial searching produces new suspect bodies, who, if they exist at all, are linked to the crime via an assumed blood relationship with a member of the core set, who may never be convicted of any crime. It reproduces the racial and ethnic skewing of the core set on the database, as it selectively targets relatives of the usual suspects (Haimes 2006). Moreover, once a body becomes suspect through familial searching, it is hard to imagine how that suspicion could be lifted without recourse to DNA analysis. Paul Rabinow coined the term ‘biosociality’ in the early 1990s, at the beginning of the Human Genome Project (HGP) (Rabinow 1992a; also see McNally and Glasner 2007). At the time, he imagined how a ‘molecular vision of life’ – a focus on genes and molecules made possible by the HGP – might transform disease-related sociality and identity (Rabinow 2008). For example, molecular biomarkers could function as potent bases for group identity, linking together individuals into interest groups that supposedly share a common genetic fate. Rabinow (1992a) predicted that the new hybrid biomolecularcultural categories would cut across, partially supersede, and eventually redefine older cultural classifications of bio-identities, such as race, gender and age. Forensic DNA profiling developed in tandem with the HGP, but the forensic DNA typing systems of the 1990s – what Koops and Schellekens (2008) call ‘traditional DNA forensics’ – were the antithesis of biomedical genomics. Contrary to, for example, medical genomics, forensic applications preferentially focused on ‘non-coding’ parts of the 292
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genome that were not thought to be expressed phenotypically. Those non-coding patterns were highly valuable for forensic purposes, despite their lack of genomic ‘meaning’. In that sense, they were like the fingerprint patterns that Galton codified a century earlier, in hopes of developing a way to index hereditary lineages, but (to his ‘regret’, as Rabinow (1992b) put it) later found more useful for distinguishing individuals from one another. In accordance with Rabinow’s (1992b) prediction, but perhaps to his own regret, even DNA profiling, the purest and most reductionist of applications of genomics, intersects with and reproduces older cultural categories.19 Traditional DNA forensics created the conditions of possibility for the development of new forensic genomics approaches for familial searching, inferring ethnicity (M’charek 2008) and predicting phenotypic traits such as red hair colour (Koops and Schellekens 2008). The new forensic genomics actively seeks to combine DNA markers with existing cultural categories of kinship, ethnicity, and appearance in order to generate new suspects and suspect populations from forensic traces, and, in the process, it technically re-inscribes cultural meaning and legal relevancy into previously uncharted biosocial territories.
Fear, fallibility and finality To return to Lord Justice Sedley’s proposal with which we began this chapter, profiles on the database come disproportionately from young, black and, to a lesser extent, (South) Asian men. The skewed composition of the database has been characterised as a form of discrimination along lines of race and ethnicity – an instance of ‘racial profiling’ by other means – as well as age and gender. Critical comments by Sedley and others also raise concerns about the piecemeal expansion of the database to include CJ samples from ‘innocents’, including many children, who had not yet, nor perhaps ever, been convicted of any crime.20 Until recently, the British government consistently denied that it had any plans for a massive expansion, as ‘it would be too expensive and impracticable to take samples from everyone who might be in the country at any one time’ (NDNAD Annual Report 2003/4: 30), although it continued to propose more limited expansions through, for example, the compulsory taking of DNA from persons convicted of minor offences such as littering and parking violations. However, in October 2006, then Prime Minister Tony Blair expressed his support for including all citizens on the database. Given the history of enabling legislation in the UK, and with passage of legislation in 2006 for a National Identity card linked to its owner by unique biometric identifiers, ‘universal’ DNA profiling may not seem such a remote possibility.21 The Nuffield Council report (2007: 33) refers to the ‘no reason to fear if you are innocent’ argument that is often given in favour of expanding the NDNAD. This is the argument that individuals have nothing to fear from being included in the database because, unless they are the source of the sample, they will automatically be excluded from suspicion whenever a crime sample is run. Some of the forensic scientists and police officials we interviewed have claimed that persons who have been released after serving sentences for sexual offences actually want to have their profiles on a national or regional database, because they assume that, as long as they remain law-abiding, regular database searches will continually clear them of suspicion for crimes committed in their neighbourhoods. However, there are several grounds for questioning the ‘no reason to fear’ argument: concerns with curtailment of individual liberties, encroachments on individual 293
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and family privacy, the expansion of police powers, and the possibility of erroneous and prejudicial suspicions by the police (Nuffield Council on Bioethics 2007: 33–4). A well-known case in the UK illustrates both the dangers presented by cold hits and the possibility of correcting for them. This case involved a man named Raymond Easton, who lived in Swindon. In 1997 he was profiled using the standard system at the time (SGM), following a ‘police caution’ in connection with a domestic dispute, and his profile remained on the database. In 1999, he was charged with breaking and entering a house in Bolton, nearly 200 miles north of where he lived. The sole evidence was a cold hit between his DNA profile and blood evidence found on a broken window that the burglar had used as a point of entry. Forensic analysis determined that all six loci in the SGM profile matched, with a random match probability estimated at one in 37 million. The police charged Easton with burglary, despite some striking anomalies: Easton suffered from severe Parkinson tremors, and could not drive, dress himself or walk for more than a short distance; and he had an alibi that other family members could corroborate. Although, according to his solicitor, he had never travelled north of Birmingham, the police tried to discount these anomalies by imagining scenarios in which Easton secretly travelled to Bolton, and perhaps with the help of an accomplice, managed to hoist himself through the window. The case went on for months, until he was exonerated after the prosecution retested the samples with a new ‘upgraded’ profiling system (SGM Plus) that used ten STR loci.22 Although this story illustrates how a more advanced test corrected for a false-positive result, it also indicates the extraordinary weight the police and prosecution placed on the DNA evidence and the lengths to which they went to discount the many anomalies in the case. In 1999, the SGM standard for the NDNAD was replaced with SGM Plus, which uses ten STR loci, and has a claimed random match probability of at least one in a billion when full profiles are compared.23 It was subsequently calculated that 26 per cent of the database matches reported using the previous SGM system would have been adventitious (NDNAD Annual Report 2003/4). It is claimed that no adventitious matches of unrelated individuals have ever occurred between full SGM Plus profiles (Nuffield Council on Bioethics 2006). However, database size matters. As the size of the NDNAD grows, so too does the risk that speculative searches will identify an innocent person as the suspect for a crime through a false-positive match. Concerned about the discriminatory power of SGM Plus, Jeffreys recommends that following the identification of a suspect, the validity of the match should be tested by reanalysing the sample at six additional loci (House of Commons Science and Technology Committee 2005: 40–1). However, even though reanalysis with more rigorous systems has the potential to exonerate the innocent, it also justifies the lawful retention of the biological samples after they have been profiled for the database, a practice that raises its own concerns given that profiles and the associated samples of NDNAD inhabitants can be used in forensic research without the explicit consent of the donors. In addition, random match probabilities do not take into account the possibility that DNA evidence can be accidentally or deliberately contaminated, mislabelled or mistakenly interpreted by the various agents during the ‘career’ of a sample.24 Results of proficiency tests and probabilities of laboratory error are sometimes calculated, but for the most part some possibilities of error, not to speak of fraud, remain unmeasured and perhaps unmeasurable. As if to underline this point, a recent newspaper report stated that ‘[t]housands of people could be accused of a crime they did not commit as a result of errors in records 294
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on the national DNA database’ (Cockroft 2007). A spokesperson for the National Policing Improvement Agency (NPIA), which houses the Custodian Unit responsible for the quality and integrity of the database, was quoted as saying that the ‘Data Quality and Integrity Team’ discovered ‘1,450 demographic discrepancies’ between January and November 2007. The NPIA spokesperson added that ‘[t]he Custodian Accreditation Service has identified and logged 111 unexpected results – possible errors – for the financial year 2006/07 that have resulted in the deletion of a profile or an amendment to the profile’. Many of these were mundane administrative and clerical mistakes, such as spelling errors and wrongly recorded dates and police codes (Cockroft 2007). ‘Pre-analytical’ errors (as they are sometimes called) occur when samples are collected, labelled, stored and moved, before the DNA is extracted, profiled and uploaded on the database. We could call the mundane clerical mistakes that occur when analytical data are entered on the database ‘post-analytical’ errors. Neither pre-analytical nor post-analytical errors are represented in typical proficiency tests and other measures that focus on laboratory practitioners, and they are not the sorts of error that preoccupy population geneticists and statisticians in their debates about the probability of false-positive results, but they can have serious consequences. The NPIA claims to have ‘rectified’ the clerical mistakes it ‘discovered’, but acknowledged that further errors could still be made (Cockroft 2007). Such mistakes are likely to result in false-negative results for many database searches, but they can also lead to false-positive results when, for example, the names or police codes are switched for different CJ profiles, so that one that matches a crime scene profile is associated with the wrong person. In addition to such practical and clerical mistakes, there is the possibility of inferential or interpretative error. An individual whose evidence matches ‘trace bioinformation’ collected at a crime scene may be falsely accused of the crime based on fallible inferences about the association between the evidence and the crime (Nuffield Council on Bioethics 2007: 6; also see Thompson (2006) for US cases).25 As long as such possibilities remain in play, an individual whose DNA profile is on a database is more liable for false (as well as true) accusations than someone whose profile is not on it. In an ideal world, a universal database would ‘solve’ this problem of differential liability, but there are good reasons to distrust in the failsafe accuracy and integrity of the criminal justice system’s use of such a database. Fallibility and finality Proponents of DNA profiling, including many former critics, frequently make statements that emphasise the infallibility and unassailability of the evidence it produces, and the certainty with which such evidence can determine guilt and innocence. For one of many examples: ‘DNA profiling is universally recognized as a technology that can free the innocent, condemn the guilty, identify a perpetrator with court-testifyable certainty and close cases that have languished unsolved for years’ (Gugliotta 1999). Not only is DNA heralded as a means of closing unsolved cases, it also is granted the power to reopen cases that had been assumed closed, sometimes for decades. Just as statutes of limitation have been giving way to DNA, so has the larger principle of legal ‘finality’ been questioned (Berger 2004). Finality is the legal concept of closure, which limits the state’s power to retry the innocent and makes it extremely difficult for convicted persons to reopen their cases after appeals have been exhausted. Courts will sometimes invoke that principle when denying a petitioner’s claim that new evidence 295
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indicates that their conviction was mistaken or prejudicial. The rationales for this principle include a concern for maintaining public respect for the law and the recognition that the fallible apparatus of justice would be likely to become even more capricious if closed cases were easily reopened. DNA profiling has been singled out as a basis for suspending this principle because, unlike eyewitness memories that fade and physical evidence that decays, the PCR/STR system can be used in some instances to recover meaningful profile results from old and degraded samples.26 Moreover, commentators and analysts frequently attribute extraordinary epistemic status to DNA profile evidence as ‘a scientific arbiter of truth’ that exposes the fallibility of all other forms of criminal evidence (Findley 2002: 336). Consequently, DNA evidence, with its precise probability figures and its scientific aura, has increasingly been treated as a singular source of an objective truth that should be allowed to overturn verdicts of innocence and guilt based on more fallible ‘subjective’ forms of testimony and forensic judgement. Though we applaud efforts to overturn guilty verdicts in the pursuit of ‘actual innocence’ (Scheck et al. 2000), we are less sanguine about treating the thousands of ‘cold hits’ generated through database searches as privileged indications of guilt. The widespread belief in the infallibility of DNA can itself be granted a finality of its own, as it can attenuate a search for corroborating evidence and a consideration of mitigating circumstances, and persuade defendants and their attorneys that the only alternative in the face of a DNA match is to plead guilty. Consequently, there can be plenty of reason to fear being included on the database, and a hypothetical universal database would not be a final solution to the uncertainty and prejudice that is endemic to criminal justice.
Conclusion The rapid expansion of DNA databases is a worldwide phenomenon, and as we chronicled in the case of the NDNAD, that expansion is facilitated by court decisions and legislative initiatives that suspend constraints that apply to criminal investigations using older technologies. When DNA evidence is involved, there appears to be a suspension of the scepticism towards state’s evidence in the adversary system – with few exceptions, DNA evidence is treated as infallible by key actors in the criminal justice system (including defendants, as Prainsack and Kitzberger (2009) show in their interviews with Austrian convicts). This exceptional (and, arguably, excessive) trust in DNA as a ‘truth machine’27 points to a deeper aspect of biolegality. Not only is biolegality an historical relationship between biological innovation and enabling legislation, it is an epistemic relation in which biological ‘truth’ justifies exceptional legal procedures.28 Presumptions about the exceptional epistemic status of DNA evidence – that it is scientific, and not merely legal, and that its truth is rock-solid fact, unlike other forms of expert and non-expert opinion – provide rationales for overturning established legal constraints and institutions. Of course, there are other rationales – ‘security’ in the context of the so-called ‘war on terror’ in the US is routinely invoked to justify expanding surveillance and contracting civil liberties – but presumptions about truth are especially salient in connection with DNA evidence and databases. Such presumptions also can lead to fundamental confusions between scientific evidence and legal judgement, leading to misplaced and dangerous hopes to solve crimes and answer questions about guilt and innocence with the latest biotechnology. 296
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Notes 1 Michael Lynch and Ruth McNally received support from Economic and Social Research Council (UK) for research on the beginnings of the NDNAD, ‘Science in a Legal Context: DNA Profiling, forensic practice and the courts’ (Award No. R000235853, 1995–8). During that project and afterwards, we gained valuable information about national and international databases in interviews with Peter Martin, Bob Bramley, Paul Gaughan, Paul Debenham, Ian Evett and Christophe Champod, among many others. We also received valuable information from collaborations with Simon Cole, Kathleen Jordan, Patrick Daly and Paul Gaughan. We also are grateful to Robin Williams for sharing information from his studies of the NDNAD. 2 Sedley was not the first to raise such concerns. Sir Alec Jeffreys, who is credited with the invention of DNA profiling in 1984, suggested the same solution to the ethnic bias problem (McKie 2004; House of Commons Science and Technology Committee 2005: 32). From time to time, various chiefs of police and government officials have also advocated a universal database, but they tend to cite social control rationales. 3 In the Netherlands, the surreptitious sampling of a suspect’s DNA has been lawful since 2001 (M’charek 2008). 4 State v. Bell, Nos 95,575; 95,613; 95,614; 95,639; 95,640; 95,766 (Kansas 28/3/2008). We are grateful to Simon Cole for calling this case to our attention. For an insightful essay on the tenuous connections between body and identity which are challenged by biological innovation, see Rabinow (1996). 5 Only 50 per cent of crime scene samples are of sufficient quality to generate full DNA profiles comprising markers at all of the ten places (‘STR loci’) analysed in the current NDNAD profiling standard ‘SGM Plus’ (presentation by Dr Bob Bramley, Custodian of the NDNAD, Techniquest Cardiff, 19 July 2005). In order to be entered into speculative searches, partial profiles must contain STR markers at a minimum of four loci to reduce the numbers of partial matches retrieved (NDNAD Annual Report, 2003/4: 19). 6 A House of Commons report in 2007 (cited in Nuffield Council on Bioethics, 2007: 9), states that approximately 13.7 per cent of the ‘subject samples’ added to the database in 2005–6 were estimated to be ‘replicates’ – samples from individuals arrested on more than one occasion, including those who use aliases 7 See NDNAD Ethics Group 2008. 8 For descriptions of forensic genomics in other jurisdictions see Koops and Schellekens 2008; Hindmarsh 2008; M’charek 2008; Williams and Johnson 2005. 9 Jeffreys (quoted in McKie 2004) uses a classic ‘moment of discovery’ account when he recalls his realisation: ‘It was a blinding flash … I had been working on disease genes. The last thing I was thinking about was paternity suits or forensics. But I would have had to have been a complete idiot not to spot the implications.’ 10 For a simple explanation of various forensic DNA systems, see Lynch et al. (2008: Interlude A). 11 Sections 61–5 of the Police and Criminal Evidence Act 1984 (PACE). 12 R v. Nathaniel (Lonsdale), CA, 1995. The Times Law Reports, 3 April: 180–1. 13 Recordable offences are those that have to be included on the Police National Computer. They include begging, being drunk and disorderly, and participating in illegal demonstrations. 14 The earlier system was known as the Quad system as it used four STR loci, while its successor, SGM, deployed six, along with a sex-discriminating locus. SGM changed the average discriminating power of a match to from one in 10,00 to one in 50 million. This number appealed (albeit misleadingly) to the idea that there would be approximately one unique profile per member of the UK population. 15 This ‘core set’ is only nominally related to Collins’ (1985) conception of the ‘core set’ of active research groups in a scientific controversy, though an analogy can be drawn between key (bad) actors in a theory of crime and the key agents who promote and sustain a scientific dispute. In both cases, the most active ‘innovators’ (to borrow one of the categories in Merton’s (1938) typology of deviance) are thought to be a relatively small set of agents who are central to an expansive social and institutional network associated with their activities. 16 The provisions of PACE which permit the retention of samples and DNA profiles from persons who have been not been prosecuted or who have been prosecuted and acquitted have been challenged by judicial review in the combined cases of R v. Chief Constable of South Yorkshire ex parte S
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17 18 19 20 21 22 23 24 25 26
27
28
and ex parte Marper. In both cases, the courts ruled that the retention of the DNA samples and profiles by the Chief Constable of South Yorkshire breached Articles 8 and 14 of the European Convention on Human Rights. In 2004, at the highest court of appeal, the House of Lords, supported the retention of DNA from those charged but not convicted. The case went to the European Court of Human Rights, which, in December 2008 found that the UK policy on retention of DNA did breach Article 8 of the European Convention. (S. and Marper v United Kingdom [2008] 30562|04 [Grand Chamber] (4 December 2008). See NDNAD Annual Report (2003/4: 6), Williams et al. (2004: 96–7), and Nuffield Council on Bioethics (2007: 36). The legislation in Scotland (and Northern Ireland) is different. See Nuffield Council on Bioethics (2007: 10–11); Fraser (2008). It is possible to have one’s record removed from the Database and one’s sample destroyed, but only under exceptional circumstances (see Nuffield Council on Bioethics 2007: 100). ‘Replicates’ are samples from individuals arrested on more than one occasion, including those who use aliases. Whereas Galton apparently regretted the finding that conventional fingerprints yielded no clues about other physical traits or kinship, Rabinow expressed regret that DNA profiles probably would (see Rabinow 1992b). The Daily Telegraph (Slack 2007: 12) gave an undocumented figure of ‘one million people on the database, including 100,000 children, who have never been convicted’. Identity Cards Act 2006; online: www.opsi.gov.uk/ACTS/acts2006/20060015.htm See Mnookin (2001: 50). This case received heavy press coverage. See, for examples, Willing (2000) and Chapman and Moult (2000). Also see BBC Radio (2000). However, the probability of a chance match is higher when partial profiles are involved, as is often the case. The idea that a sample has a ‘career’ is developed in Lynch and McNally (2005) and Lynch et al. (2008: Ch. 4). The FSS’s use of a technique called ‘Low Copy Number’ profiling was temporarily suspended following damning criticism from the judge in the Omagh case where it was used to link the suspect with a series of bombings in Northern Ireland (see BBC News 2007b). Assumptions about the virtual immortality of DNA are belied by the high proportion of crime samples submitted to the NDNAD that yield null or partial results when subjected to STR analysis. DNA can degrade when samples are exposed to the elements or become infected with bacteria. A completely degraded sample would very likely show a null result, but a partially degraded sample may suppress the visibility of longer STR sequences, which break down into shorter sequences and show up as distinctive ‘alleles’ in a graphic STR profile. American defence attorney Peter Neufeld was quoted as saying of DNA evidence: ‘It’s kind of a truth machine. But any machine when it gets in the hands of human beings can be manipulated or abused’ (Liptak 2003). This statement both points to the widespread belief that DNA evidence is infallible, and warns of its all-too-human uses. The expression ‘truth machine’ is adopted in the title of Lynch et al. (2008). There are parallels with the special epistemic status, called ‘genetic exceptionalism’, attributed to genetic information in biomedicine. For example, on the basis that genetic information is qualitatively different from other medical information, it is argued that genetic tests justify special consideration with regard to informed consent and privacy (see Nuffield Council on Bioethics 2003).
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Bieber, F. and Lazer, D. (2004) ‘Guilt by association’, New Scientist, 23 October: 20. Chapman, James and Moult, Julie (2000) ‘DNA test blunder nearly landed me in jail’, Daily Mail (London), 11 February: 23. Cockcroft, Lucy (2007) ‘Innocents fear DNA database errors’, Daily Telegraph (London), 26 November; online: www.telegraph.co.uk/news/main.jhtml?xml = /news/2007/11/26/ndna126.xml Cole, Simon and Lynch, Michael (2006) ‘The social creation of suspects’, Annual Review of Law and Social Science, 2: 39–60. —— (forthcoming) ‘DNA profiling or fingerprint evidence: more of the same?’ in R. Hindmarsh and B. Prainsack (eds) DNA Profiling and Databasing: Governing the Challenges of New Technologies. Cambridge: Cambridge University Press. Collins, H.M. (1985) Changing Order: Replication and Induction in Scientific Practice. London: Sage. Dovaston, Don F. (1994a) A DNA Database (1) Report: For Consideration by ACPO Crime Committee. London: ACPO (28/29 September). —— (1994b) A DNA Database (3) Business Case: For Consideration by ACPO Crime Committee. London: ACPO (28/29 September). —— (1995) The National DNA Database Revised Police User Requirement: Revised by the ACPO National DNA Database Joint Implementation Group. London: ACPO. Findley, K. (2002) ‘Learning from our mistakes: a criminal justice commission to study wrongful convictions’, California Western Law Review, 38: 333–54. Foucault, Michel (1978) The History of Sexuality, Vol. 1. The Will to Knowledge. London: Penguin. Fraser, James (2008) Acquisition and Retention of DNA and Fingerprint Data in Scotland, University of Strathclyde. June; online: www.scotland.gov.uk/Publications/2008/09/22154244/15 Gaughan, Paul (1996) ‘Delivery of DNA evidence in the criminal justice system’, MSc thesis in the Study of Security Management, University of Leicester. Gugliotta, G. (1999) ‘Rounding up the usual DNA suspects: critics say rights are being trampled in rush to collect samples’, International Herald Tribute, 8 July: 3. Haimes, Erica (2006) ‘Social and ethical issues in the use of familial searching in forensic investigations: insights from family and kinship studies’, Journal of Law, Medicine and Ethics, Summer: 263–76. Harmon, Amy (2008) ‘Lawyers fight DNA samples gained on the sly’, New York Times, 3 April: 10. Hindmarsh, Richard (2008) ‘Australian biocivic concerns and governance of forensic DNA technologies: confronting technocracy’, New Genetics and Society, 27, 3: 267–84. Home Office (2000) Prime Minister hails hi-tech drive against crime. Home Office Announcement 269/2000, 31 Aug. London: Home Office. Home Office (2003) Review of Homicide Statistics, National Statistics Quality Review Series Report No. 25. London: Home Office. —— (2006) DNA Expansion Programme 2000–2005: Reporting Achievement. London: Home Office Forensic Science and Pathology Unit (4 January). House of Commons Science and Technology Committee (2005) Forensic Science on Trial. Session 2004– 5, 7th Report. Norwich: The Stationery Office. Interpol (2007) ‘Police and scientific experts meet for INTERPOL DNA conference’, media release, 14 November; online: www.interpol.int/public/ICPO/PressReleases/PR2007/PR200757.asp Jasanoff, Sheila (2004) ‘The idiom of co-production’, in S. Jasanoff (ed.) States of Knowledge: The CoProduction of Science and the Social Order. London: Routledge, pp. 1–13. —— (2005) Designs on Nature: Science and Democracy in Europe and the United States. Princeton, NJ: Princeton University Press. Koops, Bert-Jaap and Maurice Schellekens (2008) ‘Forensic DNA phenotyping: regulatory issues’, Columbia Science and Technology Law Review, 9, 1: 158–202. Latour, B. (1987) Science in Action. Cambridge, MA: Harvard University Press. Liptak, A. (2003) ‘You think DNA evidence is foolproof? Try again,’ New York Times, 16 March: 5. Lynch, Michael, Cole, Simon, McNally, Ruth and Jordan, Kathleen (2008) Truth Machine: The Contentious History of DNA Fingerprinting. Chicago, IL: University of Chicago Press.
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Lynch, Michael and McNally, Ruth (2005) ‘Chains of custody: visualization, representation, and accountability in the processing of DNA evidence’, Communication and Cognition 38, 3–4: 297–318. M’charek, Amade (2008) ‘Silent witness, articulate collective: DNA evidence and the inference of visible traits’, Bioethics 22, 9: 519–28. McKie, Robin (2004) ‘Meet the DNA genius who fears the dark side of his discovery’, The Observer (London), 8 August. http://www.guardian.co.uk/politics/2004/aug/08/idcards.genetics McNally, Ruth and Glasner, Peter (2007) ‘Survival of the gene? Twenty-first century visions from genomics, proteomics and the new biology’, in P. Glasner, P. Atkinson and H. Greenslade (eds) New Genetics, New Social Formations. London: Routledge, pp. 253–78. Merton, Robert K. (1938) ‘Social structure and anomie’, American Sociological Review, 3: 672–82. Mnookin, Jennifer (2001) ‘Fingerprint evidence in the age of DNA profiling’, Brooklyn Law Review, 67 (Fall): 13–70. NDNAD Annual Report (2003/4) Forensic Science Service, 29 Nov 2004; online: www.forensic.gov. uk/forensic_t/inside/about/docs/NDNAD_AR_3_4.pdf —— (2004/5) Forensic Science Service; online: www.homeoffice.gov.uk/documents/NDNAD_AR_ 04_051.pdf —— (2005/6) Forensic Science Service; online: www.homeoffice.gov.uk/documents/DNA-report200 5–6.pdf?view = Binary —— (2006/7) National Policing Improvement Agency, October 2008; online: www.npia.police.uk/ en/11403.htm NDNAD Ethics Group (2008) First Annual Review of the Ethics Group: National DNA Database, April; online: http://police.homeoffice.gov.uk/publications/operational-policing/NDNAD_Ethics_Group_ Annual_Report?view = Binary Nuffield Council on Bioethics (2003) Pharmacogenics: Ethical Issues. London: Nuffield Council on Bioethics. —— (2007) The Forensic Use of Bioinformation: Ethical Issues. Cambridge: Cambridge Publishers. Parliamentary Question (2006) House of Commons, Hansard, Column 829W, 11 December. —— (2007) House of Commons, Hansard, Column 1276W, 30 October. Prainsack, Barbara and Kitzberger, Martin (2009) ‘DNA behind bars: “other” ways of knowing forensic DNA technologies’, Social Studies of Science, 39, 1: 51–79. Rabinow, Paul (1992a) ‘Artificiality and enlightenment: from sociobiology to biosociology’, in J. Crary (ed.) Zone 6: Incorporations. Cambridge, MA: MIT Press; reprinted in Mario Biagioli (ed.) (1999) The Science Studies Reader. NY and London: Routledge, pp. 407–16. —— (1992b) ‘Galton’s regret: of types and individuals’, in P. Billings (ed.) DNA on Trial: Genetic Identification and Criminal Justice. Cold Spring Harbor, NY: Cold Spring Harbor Press. —— (1996) ‘Severing the ties: fragmentation and dignity in late modernity’, in P. Rabinow, Essays on the Anthropology of Reason. Princeton, NJ: Princeton University Press, pp. 129–52. —— (2008) ‘Afterword: concept work’, in S. Gibbon and C. Novas (eds) Biosocialities, Genetics and the Social Sciences: Making Biologies and Identities. London and New York: Routledge, pp. 188–92. Randerson, J. (2006) ‘Police DNA database holds 37 percent of black men’, Guardian (London), 5 January: 6. Rose, Nikolas (2007) The Politics of Life Itself: Biomedicine, Power, and Subjectivity in the Twenty-First Century. Princeton, NJ: Princeton University Press. Scheck, Barry, Neufeld, Peter and Dwyer, Jim (2000) Actual Innocence: Five Days to Execution, and Other Dispatches from the Wrongly Convicted. New York: Doubleday. Slack, James (2007) ‘A DNA record of every one of us?’ Daily Telegraph (London), 6 September: 12–13. Staley, K. (2005) The Police National DNA Database: Balancing Crime Detection, Human Rights and Privacy. Buxton, Derbyshire: GeneWatch UK; online: www.genewatch.org/uploads/f03c6d66a9b35453573 8483c1c3d49e4/NationalDNADatabase.pdf Starrs, James E. (2000) ‘The John Doe DNA profile warrant’, Scientific Sleuthing Review, 24: 4. The Guardian (2007) ‘Evidence valueless and police lied, says murder case judge’. 21 December; online. http://www.guardian.co.uk/uk/2007/dec21/northernireland.topstories3
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Thompson, William C. (2006) ‘Understanding recent problems in forensic DNA testing’, The Champion, 30, 1: 10–16. Wambaugh, Joseph (1989) The Blooding. New York: Morrow. Werret, David (1995) ‘The development of forensic science: DNA and the future’, Police and Government Security Journal, 1: 46–7. Williams, Robin, Johnson, P. and Martin, P. (2004) Genetic Information and Crime Investigation: Social, Ethical and Public Policy Aspects of the Establishment, Expansion, and Police Use of the National DNA Database. Report funded by the Wellcome Trust. London: Wellcome Trust. Williams, R. and Johnson, P. (2005) ‘Forensic DNA Databasing: An Interim Report’. Research funded by the Wellcome Trust. http://www.dur.ac.uk/resources/sass/WilliamsandJohnInterimReport2005-1.pdf Willing, Richard (2000) ‘Mismatch calls DNA tests into question’, USA Today, 8 February: 3A. —— (2005) ‘Suspects get snared by a relative’s DNA’, USA Today, 7 June: A1.
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21 Biobanks and the challenges of governance, legitimacy and benefit Oonagh Corrigan and Richard Tutton
Introduction Back in November 1997, Kari Stefansson, then the relatively unknown newly appointed CEO of deCODE Genetics Inc., was interviewed for the British newspaper the Observer. The article began with explaining how genetic information derived from the Icelandic population could provide the key to curing human diseases. As the piece related: Inside the Reykjavik headquarters of deCODE Genetics, a guard stands on permanent duty outside a small, panelled room containing double locked steel safe … The safe however is no mere repository for financial secrets or bonds. They are the genetic records of tens of thousands of Icelanders and their value is inestimable. (McKie 1997: 14) Stefansson boldly claimed that his newly formed company would sell the genetic, medical and genealogical information of the entire population as ‘the sources of future medicines’ (McKie 1997: 14). So began the contemporary story of biobanks and their commercial and medical promises for scientists, companies and governments. In the decade that followed we have seen initiatives to establish new population-based biobanks, or to restructure existing resources for prospective research in several European countries from the UK, Estonia, Sweden and Latvia, Canada, United States, Western Australia, Singapore and Japan (Maschke 2005). Investment in biobanks has also been made in developing countries, sometimes controversially, as in the case of Tonga where opposition put a halt to developments, but also more successfully in Gambia, Mexico, China and India (Sgaier et al. 2007). Biobanks have now become a worldwide feature of twenty-first-century post-genomic science. In many ways, however, the Icelandic initiative would prove to be formative (Annas 2000), shaping significantly how sociologists, bioethicists, lawyers and policymakers have understood and engaged with the social, ethical and legal issues of biobanks. This chapter examines how biobanks have become the site of debates about the governance of biomedical research, the regulation of human tissue and personal information, public trust and legitimacy, and questions of benefit-sharing. We consider three interlocking areas of debate that have impacted on the regulation (in the broadest sense) of 302
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biobanks as scientific, ethical and commercial initiatives. The first relates to governance arrangements. It has been argued that biobanks pose challenges to established practices and norms in science, ethics and policy (Rothstein 2002). The second relates to how the funders and organisers of biobanks have had to establish their legitimacy in order to gain financial and public support. In this sense, we might say that they had to deal with certain challenges posed to design and governance of these initiatives. Third, the controversial question of commercial involvement in creating biobanks and in accessing public biobanks has been a long-standing one and has highlighted issues of benefit-sharing. To preface these discussions we begin by addressing the rise of biobanks as particular sociotechnical objects that pose certain definitional problems that need to be appreciated and addressed by social scientists and ethicists.
A biobank by any other name? Biobanks are not singular, well-defined and uncontroversial technoscientific objects – they vary in size and composition, methodology and purpose. Academic commentators, scientists and policymakers do not agree on what they should be called – terms range from ‘biomedical databases’ (Wylie and Mineau 2003), ‘DNA databanks’ (Caulfield, Upshur and Daar 2003), ‘DNA databases’ (especially in the forensic context) (Williams and Johnson 2004), ‘genetic banks’ (Chadwick and Berg 2001), ‘biobanks’ (Busby and Martin 2006; Hoeyer 2002; Prainsack 2008) and ‘genetic databases’ (Chadwick and Berg 2001; Gibbons et al. 2007; Martin 2001; Tutton and Corrigan 2004). Some, however, resist this kind of language altogether, preferring instead more traditional descriptions such as prospective cohort studies (Collins 2004). In addition to these different names, there are also a number of competing definitions (House of Lords 2001; Gibbons et al. 2007; Tutton and Corrigan 2004). In Japan the term ‘biobank’ was never used in the name given to the project by the Japanese education ministry who funds the project, although it is occasionally referred to as such in government documents (Triendl and Gottweis 2008). We will not seek to resolve the terminological or definitional issues in this chapter. For ease, we will use the expression ‘biobank’ in this chapter for no other reason then it seems to be the most popularly recognised term in the world today for these types of techno-info-bio-scientific initiatives. On reflection, we might even say that the contested, heterogeneous nature of biobanks is one of the reasons why, as scientific promissory objects, they are sociologically interesting (Tutton 2007). However, we appreciate that others see the lack of clear definition as inhibiting the development of effective regulatory frameworks (Gibbons et al. 2007). Not withstanding the discussion above, it is useful to begin to register some of the different kinds of biobanking activity and the different institutional and scientific contexts in which this is happening. Table 21.1provides a way of doing this (but note this is to be read down, not across): it depicts the different constituencies from which the ‘raw materials’ are gathered, the different actors involved in funding and supporting by other means the formation of biobanks who are often in cooperation with each other, the various broad areas of research they are designed to advance and the kinds of expectations and promises associated with them. While there are differences between biobanks, we can usefully identify some of their common features. The first is that we are concerned exclusively with biobanks created for research purposes and not for reproductive medicine, organ transplantation and blood 303
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Table 21.1 Varieties of biobanks and their scientific and institutional settings
Sources
Research Foci
Population-based, Common, complex prospective – volunteers diseases from the general population Hospital patients Personalised medicine Patients or other volunteers participating in clinical trials
Actors
Expectations
National or regional governments
Prevention and treatment of disease
Medical charities
Reduction of healthcare costs Cancer research Pharmaceutical sector Speed up drug development and approval Orphan and rare diseases Teaching hospitals Generate new income stream for pharmaceutical sector Disease advocacy groups Produce ‘personalised’ drugs for sub-groups or individuals Biospecimen industry sector
transfusion, of which there are many examples. These research oriented biobanks usually involve large repositories of biological samples obtained from patients, donor volunteers from the general population or patient-participants in clinical trials. Information derived from DNA analysis and other information relating to the donor such as health and lifestyle information is also stored on computer databases for ongoing health-related research. Various discrete research projects involving the correlation of the data are carried out over time, either to test or to generate hypotheses, and subsequent follow-up information may also be gathered. The collection of new information typically involves recontacting the original research subjects or gaining information on them through access to health and death records. The other common feature of particular relevance to this chapter is that many biobanks have been initiated, funded or undertaken by alliances of actors, ranging from collaborations between (1) publicly funded universities and hospitals; (2) public–private partnerships comprising commercial companies; (3) the academic sector and/or medical charities in cooperation with national and regional governments; (4) pharmaceutical, biotechnology and genomics companies in collaboration with clinical research organisations; and (5) disease advocacy organisations in collaboration with universities or even pharmaceutical companies. Reviewing the literature shows that biobanks established by actors in (2) and (3) above have tended to receive the greatest attention. The activities of the pharmaceutical sector (4) are potentially more difficult to track because such companies operate with levels of secrecy commensurate with their commercial interests (cf. Corrigan and William-Jones 2006; Lewis 2004). Moreover, given that bioethicists have posited biobanks to be ‘global public goods’, such a framing could, perversely, shift the focus from the activities of biobanking in the commercial sector. The role of disease advocacy organisations in creating biobanks is also an area in need of further research (Tutton 2007). And while we address some aspects of these in relation to our discussion of commercial issues, we refer primarily in this chapter to biobanks initiated by groups of actors in (2) and (3) since these have generated the most debate in policy and ethics fields. 304
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In the first half of this chapter we concern ourselves with the challenges that the development of biobanks has posed to established techniques of governance and regulatory frameworks. In the second half, we consider the challenges posed to biobanks by the need to establish their public legitimacy and to find a satisfactory arrangement concerning commercial access and benefit-sharing.
Pre-existing mechanisms of governance The debate about the governance of biobanks focuses on their particularity. They are presented and discussed as if they are novel kinds of projects. While, as we acknowledge, the specific focus on the collection of human tissue and genetic related analysis is a defining and unique feature, when we start to explore further we find that biobanks share many characteristics with previous forms of research. The UK, for example, has a long history in carrying out prospective population studies. For example, the National Child Development Study is a longitudinal birth cohort study of 17,000 individuals born in a single week in 1958 (Power and Elliott 2006). Although initially established to study educational development and socially determined variables, it has since mapped biological and social pathways to health and disease (Fuller et al. 2006). While this project has only just begun to collect DNA, and was clearly not established with the aim of exploring links between ill health, environmental and genetic factors, it is the kind of prospective, longitudinal, epidemiology-based project on which many types 1 and 2 biobank projects are modelled. More recently, in the 1990s, the Avon Longitudinal Study of Parents and Children (ALSPAC) enrolled almost 15,000 pregnant mothers to follow the subsequent birth and development of children born to them. The ALSPAC study has ‘generated hundreds of millions of data points and holds half a million tissue samples from placentas to milk teeth, the ALSPAC trove has been the subject of many collaborative studies’ that include genetics ones (Lowrance 2006: 8). Also, the North Cumbria Community Genetics Project (NCGP) has a specific focus on genetics and recruited over 7,000 mothers and their newborn babies, providing a large-scale resource of DNA derived from the umbilical cord of newborn babies. Although the ALSPAC and NCGP projects have been subject to a greater degree of ethical surveillance, in general these studies have been facilitated with relative ease and have certainly not generated the kinds of controversy that currently surround UK Biobank and other national biobanks. There are several other major prospective biobanks worldwide. The largest is the European Prospective Investigation into Cancer and Nutrition (EPIC), which was set up to look specifically at the relationship between cancer, genetics and nutrition. The study has recruited 520,000 people from ten European countries. On a similar scale, the Chinese Kadoorie Study of Chronic Disease is investigating the roles of genetic and environmental factors, such as tobacco, infections and diet, in premature death and disability. The plan is to recruit half a million adults aged 35 and over – 50,000 from each of ten rural and urban areas throughout China. To date, more than 300,000 have already been recruited. The Mexico City Prospective Study, initiated in 1999, has recruited 160,000 men and women over the age of 40 and is looking at the preventative causes of chronic diseases. It collects medical and lifestyle data such as smoking habits, alcohol consumption and diet, as well as blood pressure and blood samples. Studies of this kind in the UK and elsewhere have been subject to intersecting modes of governance and societal controls. Most countries have laws relating to disease 305
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registries, human tissue and data protection. Also international research ethics guidelines and processes involving ethical review of research involving human subjects have proliferated during the second half of the twentieth century. In the UK from the 1970s onwards such studies would have been subject to research ethics committee approval and in accordance with various international national and other guidelines. These guidelines are based on the primacy of informed consent (Corrigan 2003) and subject to judgements made by ethics committees regarding the relative risks and benefits to prospective research subjects. However as Hirtzlin et al. (Hirtzlin et al. 2003) reveal in their European survey on biobanking, risks associated with early forms of biobanking were seen as so inconsequential that frequently explicit consent was not gained. Their study reveals that informed consent procedures for medium-sized and smaller-scale repositories of tissue used for research had in the past often not been carried out, and where informed consent forms were used, they were generally only based on information relating to the primary use envisaged and the long-term uses were not always mentioned (Hirtzlin et al. 2003). Although informed consent had become a fairly well-established practice since the 1970s, this appears to have applied more readily to the randomised control trial model of research than prospective population studies. Certainly the general thrust of research ethics literature was premised (and this remains the case) on issues arising in the context of a doctor/patient therapeutic relationship and on discrete controlled clinical trials rather than on public health research. Given this history it is perhaps not surprising that deCODE in Iceland had not anticipated problems surrounding the acquisition of DNA and health records based on an ‘opt-out’ basis rather than explicit consent. Furthermore, given that the UK’s Medical Research Council (MRC) had funded many of the previous prospective public health-related research studies it was perhaps not surprising that they initially deployed the concept of the ‘gift’ in policy debate in relation to the collection of DNA for the proposed UK Biobank study. As we will discuss, the concept of the ‘gift’, though later rejected, had been seen as additionally attractive insofar as it could (at least in theory) provide ethical legitimacy for the facilitation and management of commercial interests in human tissue and its products (Busby 2006; Tutton 2004).
New modes of ethics and governance The potency of the Icelandic experience is that it drew attention to a ‘gap’ in traditional ethics and governance oversight. It drew public and policy attention because of the general publicity being accorded to genetic programmes and because other countries were also planning to establish and utilise such repositories (Annas 2000). Once policymakers and ethicists began to focus on these kinds of projects it became clear that the existing ethics and governance measures did not fit and that new measures going beyond traditional ethics frameworks would need to be found. This was echoed in international ethics debates where they were given a sense of urgency (Greely 2001, Joly and Knoppers 2006, Knoppers and Chadwick 2006). In particular, processes such as reliance on the implementation of informed consent procedures and analyses of the risks and benefits to prospective research participants were seen as ill-fitting and inadequate for these new breed of national biobanks. This is not to suggest that these traditions have been abandoned. Indeed, consent requirements have been strengthened with most countries now imposing a consent requirement for the retention of human tissue. In the UK, for example, the Human Tissue Act (2004) introduced the requirement to obtain consent 306
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for the attainment and retention of all tissues samples that had been routinely stored in the past without such consent. In Sweden, which introduced legislation specific to biobanks (whereas the UK Human Tissue Act is more wide-ranging), the Act for Biobanks (2004) was implemented to ensure that patients are informed and give their consent to such processes. Furthermore the Act permits donors to be explicit about the purposes to which the sample may or may not be used. In the UK, where there is no biobank law, the recently launched UK Biobank has chosen to adopt a broad consent approach. Potential participants are given information about the broad range of the project’s aims and objectives. They are told about the kinds of information in the way of heath and personal data that are required and the tests that are to be carried out when they first enter the study. Although patients might disagree with a particular commercial or scientific use of their material, they only have the right to withdraw. But, as noted by Winickoff and Winickoff (2003) such rights are not much use unless patients are informed specifically about the future uses as they occur: ‘a patient’s right of withdrawal is worth little without a constant flow of new information’ (Winickoff and Winickoff 2003: 1180). Furthermore, in the case of UK Biobank, participants are told they have the right to withdraw but that this right is not extended to them in the case of future mental incapacity or to relatives after their death. They are also informed that they may be contacted again if further information is required, otherwise researchers may use the ‘resource’ for a variety of individual studies (UK Biobank 2006). In this case consent is both broad and limited insofar as individuals can consent or decline initially and can decline later, whereas in the Swedish case the law allows the individual the choice to limit the uses to which their sample can be used. Consent remains an important issue in relation to biobanks; nevertheless, attaining the standard of ‘informed consent’ at the outset is not generally possible, and although there is scope for some participants to withdraw or exercise a decision with regard to which particular aspects of the study within the main project they are willing to be involved in, this choice too is often limited. Risks to participants are also considered in relation to potential breaches of privacy. Given the sensitivity of genetic information and the extent to which DNA is unique to each individual, issues relating to securing donors’ anonymity have been raised. Indeed, such is the sensitivity surrounding genetic information that the UK’s Human Genetics Commission has introduced the term ‘genetic privacy’ which serves to highlight the special nature of DNA-related information’ (Human Genetics Commission 2001). Most biobanks rely on being able to link information on individuals to their DNA and data but have devised mechanisms to make such information accessible through complex systems of linking codes. Organisers have gone to great lengths to ensure that biobanks conform to legislation on data protection and confidentiality. Nevertheless, some have expressed concerns about the potential for government bodies to access DNA data for non health-related purposes such as crime detection, for non-consented purposes, or for third party access. The potential for computer hacking has also been highlighted by some. Furthermore, as discussion of benefit and risk has been subject to more rigour, and the implications of commercial access and or ownership have begun to be considered, the concept of benefit-sharing has emerged. Our main contention here, though, with regards to risk–benefit analysis is that while technologies of ethics governance were previously aimed at identifying and managing the risks related to the health and welfare of individual participants in discrete, time-limited research projects, currently the object of risk is now as much focused on ‘the public’ insofar as ‘it’ is understood to have the 307
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capacity to undermine or jeopardise a project. Underpinning both, however, is an understanding that in order for the future development of biobank projects to be secured, such enterprises must be accorded legitimacy and trusted, not only by the donors but by the public at large. We discuss these questions in the next part of the chapter, in which we also turn our attention away from the challenges that biobanks have been seen to pose to existing governance practices, to the challenges that the organisers of biobanks themselves have had to deal with in setting up these initiatives.
Legitimacy, trust and participation Without doubt one of the key challenges that biobanks face is to successfully enrol very large numbers of volunteers. Ultimately, these projects will succeed or fail on whether they are able to enrol thousands or hundreds of thousands of individuals prepared to attend recruitment centres, provide blood and other biological samples, complete questionnaires related to their lifestyle and health, and permit access to their medical records over a long period of time. While this is not so different to the problem that medical research has always faced, type 2 and 3 population-based biobanks encounter an additional difficulty because these volunteers tend to be ‘healthy’, which is to say they are not necessarily affected by or undergoing treatment for disease. Furthermore, the biobanks are unlikely to produce new medicines that will benefit those individuals in their lifetime because of the long-term nature of the research. Therefore, biobanks have faced two principal challenges: establishing legitimacy with respect to their governance in order to secure political support for their investment and public trust for success in enrolment; and gaining support for their scientific, public health and economic visions of the future. The Icelandic initiative took the controversial step of organising its enrolment into the Health Sector Database (HSD) on an opt-out basis in order, presumably, to maximise the numbers included. This measure encountered intense opposition from healthcare professionals who resisted the accession of their patient data to the database, and a significant minority, approximately 18,000 people (out of 270,000 in the total population) chose to opt out of the HSD. In the end for these reasons and others, deCODE never constructed the HSD (Palsson 2008). The organisers of biobanks in other countries such as Estonia and the UK have stressed the voluntary, opt-in nature of enrolment into their biobanks. In the UK, efforts have been made to deal with issues that could adversely affect the successful recruitment of the target population for UK Biobank. Its organisers have sought to establish its public legitimacy, and gain the public’s trust by undertaking public consultations as well as creating particular governance arrangements. At the time of writing, UK Biobank had enrolled more than 150,000 individuals in less than a year since beginning enrolment at a number of centres across the country, with approximately 10 per cent of those approached agreeing to participate. However, while most countries have entered into consultations with academics on ethics and governance mechanisms and instituted public debate in relation to the establishment of a national biobank, this has not been the case in Japan. Here decisions were made not to seek contributions from prominent academic institutions and medical schools. Instead, private hospitals and universities were enrolled to participate in the project, thereby avoiding ‘a complex process of negotiations and ethical considerations 308
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that would have inevitably would have altered the timetable of the project dramatically’ (Triendl and Gottweis 2008: 131). In some developing countries, scientists involved in biobanks have also had to overcome resistance from individuals to the taking of serum blood samples. As Sgaier and colleagues (2007) have discussed, the use of dried blood spots (DBSs) has become a viable alternative to collecting whole blood as they do not require refrigeration and are therefore much cheaper to store. They also report that this method of sample collection is much more acceptable to many individuals in a country such as India, which is drawing up plans for a national biobank initiative with a potential cohort size of two to three million people. In Iceland, Estonia and Sweden, national parliaments have played a prominent role in the establishment and governance of biobanks, leading to legislation. By contrast, in the UK, public engagement with plans for UK Biobank and Generation Scotland has principally been through a series of small-scale consultations. While the latter has made use of social science expertise to organise and analyse these consultations (e.g. Haddow et al. 2007), the Wellcome Trust and MRC preferred to commission private market research organisations to research the views of different stakeholder groups, ranging from different publics to healthcare professionals (Cragg Ross Dawson 2000; People Science and Policy 2002). This research employed various qualitative methods to explore a number of broad issues relating to UK Biobank, including people’s attitudes towards providing human tissue samples to biomedical research (Cragg Ross Dawson 2000), and, more specifically, the likely motivators for and barriers to their willingness to participate in the project (People Science and Policy Ltd 2002). Alan Petersen (2006), however, criticises the approach taken by the organisers of UK Biobank, claiming that their attempt at: ‘Public engagement’ has proceeded on as a kind of risk management strategy rather than as a genuine attempt to involve publics in shaping the overall aims, direction and management of the project or to open debate about the project’s value and implications. (Petersen 2007: 37) His criticisms echo those of the British Parliament’s House of Commons Science and Technology Committee: ‘It is our impression that the MRC’s consultation for Biobank has been a bolt-on activity to secure widespread support for the project rather than a genuine attempt to build a consensus on the project’s aims and methods’ (House of Commons Select Committee on Science and Technology 2003: 7). The Committee expressed the view that the consultations appeared to be peripheral to the decisionmaking processes about whether, why and how UK Biobank should develop. Indeed, as Petersen and others have noted, it is not clear how the findings from the consultations to date have subsequently informed decisions about the design, methodology or governance of UK Biobank. Therefore, as Petersen suggests, if the purpose the consultations have served is merely instrumental, to engender public trust as opposed to generating substantive public debate and involvement in this initiative, then these are likely to be counter-productive. Such consultations could be viewed as ways of ‘engineering consent’ (Petersen 2006: 32) that could actually foster public distrust. Despite such concerns, in other countries such as Canada the challenge of how to meaningfully give voices to the various sectors of the public in the governance of biobanks is currently being pursued. At the University of British Columbia, for example, a multi-disciplinary team of bioethicists has been funded by Genome Canada to conduct 309
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an exercise in deliberative democracy with the aim of developing approaches that register opinions and ascertain the values of all the key stakeholders including public constituents in biobanks. The long-term view is to design a model of ethics and governance for a future national Canadian biobank based on the findings of this consultative exercise (see Burgess 2004). Further strategies to secure public trust have emerged. For instance, the organisers of UK Biobank have initiated the creation of the Ethics and Governance Framework, a 20page document that lays out details of the resource and outlines the ethical principles UK Biobank are to follow. An independent oversight committee, the Ethics and Governance Council (EGC) has also been established to ensure the Framework is followed and to provide ongoing advice to UK Biobank. The EGC is designed to secure public trust and confidence by being mandated to monitor the activities of the project and to protect the interests of the 500,000 volunteers. However, the EGC’s powers are somewhat limited as it has no power to veto proposed actions and it is, at best, semi-independent since it is activities are financed by the funders of UK Biobank (Corrigan and Peterson 2008). Its membership reflects a number of professional backgrounds, including ethics, law, medicine, medical science, and social science, as well as representatives from public consultation and community and consumer involvement backgrounds. It does not include, however, any representatives of the 500,000 people whose samples and data will be held in the resource. We are not aware of any national or regional population-based biobank that has been designed to allow for this kind of ‘participation’ in their governance (Tutton 2007). The term ‘participation’ is also widely employed by social scientists, bioethicists and policymakers in relation to biobanks and other forms of biomedical research (Corrigan and Tutton 2006). As we have commented, the routine use of the expression ‘participant’ in documents produced on the UK Biobank (People Science and Policy Ltd 2002; UK Biobank 2003) reflects changes in language across healthcare, biomedical research, publishing and policy. Through the use of this language, policymakers construct an image of people not as the passive subjects of research but as actively engaged in the research process as partners, with a stake in its outcomes (Corrigan and Tutton 2006). However, this language is very much contested and it is a matter of contention whether its increasing use in policy texts is reflected in changes in research practices or in people’s experiences of being involved in studies (Williamson 1999). In addition to these issues about public consultations and the discursive framing of public participation in biobanks, Busby and Martin (2006) highlight that appeals for public support for biobanks is also tied up with the production of a shared set of expectations about medical research and about biobanks in particular as being able to produce breakthroughs in scientific knowledge and lead to new clinical therapies and diagnostics. They show how these expectations are a part of the wider conceptual and cultural framings of national biobanks, such as UK Biobank, the Estonian Genome Project, the Icelandic Biogenetic Project and ‘Biobank Japan’ (Eensaar 2008; Palsson 2008; Tutton 2004; Triendl and Gottweis 2008). Drawing on Benedict Anderson’s concept of imagined national communities, Busby and Martin suggest that the organisers and proponents of national biobank projects draw on ‘ideas of national interest, identity and heritage … in the enrolment of support for national biobanks’ (Busby and Martin 2006: 241). Through this wider cultural framing, they suggest a different way in which to understand both people’s active involvement in national biobanks (or even regional or local for that matter), and to analyse how these initiatives have sought to establish their public legitimacy. 310
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In Iceland, deCODE Genetics made great play of the genetically isolated and homogeneous nature of the Icelandic population (McKie 1997; Palsson 2008). This was reinforced by media reports that utilised racial language to write about the ‘blue-eyed and blond-haired’ population of Iceland. While the homogeneity of the Icelandic population has since been challenged (Arnason and Simpson 2003), in the early stages of the initiative when economic and political capital was harnessed, such claims served to enhance the value of Iceland as a site to invest in and undertake genetics research. Moreover, as Arnason and Simpson (2003) argue, such claims located deCODE within particular visions of Iceland’s past and future and the touchstones of Icelandic national identity – language and family genealogies (Palsson 2002). They see the conflict over deCODE and its plans to establish the Health Sector Database as having centred on nothing less than ‘what is to be Icelandic’ (Arnason and Simpson 2003: 533) that located both the source and the essence of ‘“Icelandicness” in the very building blocks of people’s bodies and offers novel ways of contemplating and reasserting identity’ (ibid.: 549). These commentaries in the European context about nationality and ethnicity also resonate with Japan in a context where certain discourses of nationhood are mobilised to emphasise homogeneity. In Japan, Triendl and Gottweis discuss how the idea of personalised medicine is promoted rather that the concept of a biobank as such. ‘[T]he idea of personalized medicine had a special appeal in Japan, as it was linked to the idea of the specificity of the Japanese genome’ (Triendl and Gottweis 2008: 1238). This language of the Japanese genome reflects how, for many years, Japanese regulators have required drug manufacturers from Europe or North America to duplicate clinical trials of their products before they could be licensed on the Japanese market. As Kuo (2008) argues, this was predicated on the understanding that the population of Japan was genetically, biologically and culturally distinct and therefore required this additional level of protection. While in their analysis Busby and Martin acknowledge the persuasiveness of ideas of national belonging, they are sceptical whether appeals to nationhood are an adequate public policy response to what they see as significant tensions around the often globalised economic interests in biomedical research. As Busby’s (2006) research with volunteers in genetics research and blood donors revealed, individuals constructed what she called ‘communities of benefit’ in relation to the DNA or blood they had freely provided. These communities tended to include family, local people, as well as other patients, but not the commercial sector. This finding could clearly then have implications for thinking about the issues of commercial access and benefit-sharing that we turn to in the next section of this chapter.
Commercial access: public and patient response Returning to the Icelandic case, one of the main reasons that those enrolled withdrew from the project was because of the involvement of a commercial company with sole rights of ownership and control of the database (Rose 2001). The challenge to those planning projects since then has been how to prevent this recurring. This is a difficult challenge given that commercial access in some form or another is seen as crucial to the successful translation of genetics from the lab to the clinic. In particular, biotech and pharmaceutical companies are seen as key players in this process with regard to the development of new drugs and therapeutics. We should note here that this understanding is not merely limited to biobanks but to most enterprises relating to genetic and 311
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biotechnological initiatives. Furthermore, in contemporary societies the twin goals of health and wealth creation are explicitly supported by governments and policy forums. As the lines of distinction between the private and public realm of techno-science become increasingly blurred, so too the boundaries between science and society appear to be more permeable (Nowotony et al. 2001). As we have already shown, a response of those involved in planning and operating biobank projects is to manage the risk of public rejection by ascertaining public opinion on commercial issues and other issues of contention. In Cragg Ross Dawson’s study (Cragg Ross Dawson 2000) respondents were critical of the potential for pharmaceutical company involvement in such enterprises. Other surveys in the UK (Human Genetics Commission 2001; People Science and Policy Ltd 2002) also show that, in general, the public are at best uneasy with pharmaceutical involvement in public-sponsored projects. It is a mistake, though, to think of the public as a homogenous entity, as there are many publics. A recent study by Haddow et al. (2007) about commercial access to biobanking in Scotland found that the issue provoked ambivalent and various reactions in different public groups. For example, in the case of patient groups and their carers for conditions such as Cystic Fibrosis and Multiple Sclerosis, patients were more likely to accept pharmaceutical involvement as a ‘necessary evil’ than were their carers (Haddow et al. 2007: 276). Other patient groups in the USA have embraced commercial involvement as a means to secure improved treatments and cures for diseases. These we identify in our typology as type iv biobanks. Here patient groups themselves have taken the initiative to recruit participants and create DNA banks and issue patents (Hayden 2007; Novas 2006; Rabeharisoa and Callon 1998). Such initiatives have had varying results. In the case of one particular initiative, a couple whose children were born with Canavan’s Disease, a rare single-gene disorder, samples of blood, urine and other tissue were volunteered by the family, who also helped secure seed money from a charitable patient foundation (Hayden 2007). The research proved fruitful insofar as the scientist involved discovered an enzyme responsible for the genetic mutation and developed prenatal diagnostic tests for the disease. However, the researcher’s institution, the Miami Children’s Hospital, had taken out a patent on ‘their’ discovery thereby restricting access to the test and disallowing free test access to the communities, foundations and organisations that had helped develop this and subsequent tissue collections (ibid.). Following this, patient advocacy groups have become more demanding. PXE International, for example, an organisation initiated by a couple whose children were born with PXE – a rare genetic condition, has helped establish a blood and tissue registry (Terry and Boyd 2001). This too has led to the identification of the defective gene but, unlike the previous case, the couple have half-shares in the patent aimed at producing the test and are actively engaged in setting the research agenda and producing outputs including science publications. The recently formed Genetic Alliance Biobank is a US repository established by a number of patient groups and advocacy organisations, and has adopted the same principles as those of PXE International. Nevertheless, for the vast majority of cases such strong patient advocacy is absent. Most national and regional biobanks have been established not so much to identify tests and treatments for singlegene disorders, but to focus on multifactorial conditions and to discover the role played by genes in common diseases such as various cancers and heart disease. There is likely to be a qualitative difference in the nature of participation in these different types of biobanks. The general population may have an interest in health improvements in this area but seem unlikely to be aligned to a particular cause. However, the involvement of 312
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patient advocacy groups in biobanks does highlight issues relating to the distribution of benefit and points to both opportunities and obstacles in this regard.
Property rights The biobanks we define as type 4 are solely controlled and owned by commercial organisations. The most common way for such repositories to become established is in the collection of DNA and health related data in the context of pharmaceutical sponsored clinical drug trials. Although we also know that biotech companies acquire and retain DNA repositories beyond that, little is known about these. Drug trials however usually have a public interface insofar as trials are often conducted by physicians or clinical teams working in state hospitals or clinics. In the UK, for example, NHS patients are recruited to clinical trials by physicians responsible for their treatment. Since the 1990s it has become routine practice for DNA to be collected alongside the clinical trial for pharmacogenomic research (Corrigan 2004). While such research may have a direct link to the drug trial in that the variation in patient response to the drug under study is correlated with genetic variations, data is often held beyond the length of the trial for as yet unspecified future research (ibid.). Given the huge numbers of patients taking part in clinical drug trials it is likely that pharmaceutical company biobanks represent some of the largest global repositories. Surprisingly, given the controversy surrounding the emergence of new national and regional biobanks, type 4 repositories have prompted little in the way of discussion on their ethics and governance processes. Such collections utilise existing guidelines on consent, with patients and healthy volunteers being asked to give their consent to the collection, retention and use of their DNA, having first been informed that in doing so they forgo any further property rights in their sample (Corrigan 2004; Corrigan and Williams-Jones 2006). Property rights in human tissue have been brought to the fore in a number of cases in recent years. The now much discussed 1990 US Supreme Court case of John Moore v. Regents of University of California has highlighted tensions surrounding the issues of property rights and profits in relation to tissue samples collections (Boyle 1992; Landecker 1999). John Moore’s spleen, removed as treatment for his leukaemia, was used by his physician in research without Moore’s knowledge or consent and became the source of the Mo cell-line, which was later patented and sold to the drug company Sandoz for US$ 15 million. Moore claimed rights to a share in the profits from the cell-line, but the court found against his claim on the basis that while Moore had contributed the source tissue, he had not contributed to its development and transformation into a socially useful product. Nevertheless, the court did agree that Moore’s physician had violated the fiduciary patient– physician relationship by not seeking Moore’s consent to the use of tissue for research and commercial purposes (Gilmour 1993; Nelkin and Andrews 1998). As anthropologist Cori Hayden notes, reaffirming the importance of consent reinforces the view that: People participate in the research process out of ‘altruism’ (and that tissue samples donated are a ‘gift’ with no strings attached) while at the same time it becomes increasingly obvious, even in the way that consent is requested, that such gifts may well enable a great deal of ‘property’ and capital accumulation for companies and researchers. (Hayden 2007: 729) 313
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Furthermore, as Winickoff and Winickoff (2003) note, consent forms that waive a donor’s property rights are especially problematic in the case of biobanks that are privately held and under circumstances in which communities will realise little benefit.
Benefit-sharing Increasingly in population studies, benefit to the population has become one of the most critical issues in determining the ethical justification for the study itself, and sharing benefits with the population is seen as important in preventing the exploitation of participants. The concept of benefit-sharing has an established history in the context of debates about public good and private rewards in the biomedical sciences (Hayden 2007) and unsurprisingly has been drawn upon as a mechanism in debates relating to fairness and equity in response to some of the tensions surrounding property rights and ownership issues in biobanks. However, as Hayden (2007) notes, the best examples of how the concept of benefit-sharing has been actualised is in its utilisation as an instrument to reframe the commercial exploitation of biodiversity (such as plants microbes and insects) and traditional knowledge of indigenous populations about these (ibid.). In this context the biotech or pharmaceutical company royalties derived from such resources would come back to provide funds and economic development for the source communities. In particular, the concept of benefit, adopted by the UN Convention on Biological Diversity, was seen as ensuring rights were accorded to indigenous populations preventing what had become termed ‘biopiracy’ (Shiva 1997). Nevertheless, even in these contexts, questions concerning what kinds of benefits should be awarded and who is to be defined as the community have arisen. Furthermore, contention exists insofar as the extraction of genetic material and knowledge from communities in the gene-rich developing countries within Asia has been considered a serious form of exploitation (Kerr, Hobbs and Yampoin 1999). The HUGO Ethics Committee (Human Genome Organisation Ethics Committee) statement of benefit-sharing established the following four principles:
recognition that the human genome is part of the common heritage of humanity; adherence to international norms of human rights; respect for the values, traditions, culture, and integrity of participants; and acceptance and upholding of human dignity and freedom.
However, their definition of benefit is linked more to health benefits than economic ones, as illustrated here in their definition of benefit: [B]enefit is a good that contributes to the well being of an individual and/or a given community (e.g. by region, tribe, disease-group … ) benefits transcend avoidance of harm (non-maleficence) in so far as they promote the welfare of an individual and/or a community … thus, a benefit is not identical with profit in the monetary or economic sense …; determining a benefit depends on needs, values, priorities and cultural expectations. (Human Genome Organisation Ethics Committee 2000) Further questions regarding the benefit-sharing model are raised as moves towards various international collaborations are currently being pursued. The European Union and 314
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the Wellcome Trust (2006), for example, have recently issued a briefing paper suggesting greater harmonisation of programmes and regulatory standards, standardisation of protocols and improved coordination of activities of biobanks across Europe and elsewhere. In order to develop a systematic approach to the integration of epidemiologic data on human genes, the Human Genome Epidemiology Network was launched in 1998. This network of individuals and organisations continuously assesses the impact of human genome variation on population health. While the potential for conflicts between the free flow of information that is seen as crucial to research advances and the legitimate rights to return from research expenditure has been highlighted (HUGO Ethics Committee Statement on Human Genomic Databases 2002), there has been far less discussion on the potential for the benefits of such endeavours in health or wealth to be realised in economically developed countries rather than to those in developing or less developed economies. Other models have been proffered that utilise charitable trusts, thereby limiting the potential for commercial gain and ensuring that profits are fed back to research and the production of further health-related benefits. Winickoff and Winickoff (2003) suggest the legitimacy for biobanks should be premised on a new form of agreement among the medical institution, the researcher, and the donor community, modelled on the charitable trust. This model is one that has been utilised by many of the new US patients group biobanks mentioned earlier. In the context of UK Biobank, the funders (from charitable and public sectors) have established an independent charitable company, UK Biobank, to act as custodians of the resource and retain intellectual property rights that may accrue, with any such profits being fed back into supporting the resource. Nevertheless, commercial companies will be given access rights to the data and samples, though such applications will also have to be given prior approval by an independent ethics committee. At present, then, the notion of any direct financial benefit to the community has been rejected, and instead the idea that UK Biobank is to provide benefit to the community solely in terms of health has been adopted. The previous realisation of the concept of benefit-sharing in bioprospecting endeavours then has largely been replaced with a rather nebulous concept of health benefit, with little direct engagement of issues relating to the commercial gains to be made downstream by pharmaceutical and biotechnology companies. Indeed, it could be suggested that by establishing charitable organisations such as UK Biobank, commercial issues and the economic exchange that transpires when human tissue is donated are rendered less visible. Therefore, monetary benefit issues are thus largely sidestepped with a reliance on altruism and appeals to notions of community (Busby and Martin 2006).
Conclusion and outlook The issues of governance, legitimacy and commercial access that we have addressed in this chapter are long-standing ones in the area of biobanks and are no nearer resolution. And it has not been our aim in this chapter to seek closure to these issues. Instead, we have outlined the contributions that social scientists, bioethicists and lawyers as well as scientists have made to debates. As certain high-profile biobanks such as UK Biobank and Generation Scotland begin recruitment, this will be the litmus test of whether attempts to establish legitimacy and gain public trust will ‘pay-off’. The agenda for social science research, then, is three-fold. First, to monitor over the medium term the progress of these projects, seeing how procedures and arrangements formulated on paper will 315
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work in practice. Second, to investigate people’s experiences and expectations of biobanks as volunteers and researchers, drawing on these to make recommendations contributing to a more socially informed platform for the ethics, governance and practices for biobanks. And third, we should consider the benefits of comparative perspectives, which will be valuable in thinking through how questions of consent, participation and benefit-sharing are addressed in countries such as Australia, Japan, China and Canada in light of emerging attempts to foster greater transnational coordination among biobanks, potentially involving data-sharing across different cultural, regulatory and legal jurisdictions.
References Annas, G.J. (2000) ‘Rules for research on human genetic variation – lessons from Iceland’, New England Journal Medicine, 342: 1830–3. Arnason, A and Simpson, B. (2003) ‘Refractions through culture: the new genomics in Iceland’, Ethnos 68(4): 533–553. Boyle, J. (1992) ‘A theory of information, copyright, spleens, blackmail and insider trading’, California Law Review, 80(6): 1415–540. Burgess, M. (2004) ‘Starting on the right foot: public consultation to inform issue definition in genome policy’, Paper DEG 002. Vancouver: W. Maurice Young Centre for Applied Ethics, University of British Columbia. Busby, H. (2006) ‘Biobanks, bioethics and concepts of donated blood’, Sociology of Health and Illness, 28: 850–65. Busby, H. and Martin, P. (2006) ‘Biobanks, national identity and imagined communities: the case of UK Biobank’, Science as Culture, 15: 237–51. Caulfield, T., Upshur, R. and Daar, A. (2003) ‘DNA databanks and consent: A suggested policy option involving an authorization model’, BMC Medical Ethics 4: 1. Chadwick, R. and Berg, K. (2001) ‘Solidarity and equity: new ethical frameworks for genetic databases’, Nature Reviews: Genetics, 2: 318–321. Collins, F. (2004) ‘The case for a US prospective cohort study of genes and environment’, Nature, 429: 475–477. Corrigan, O.P. (2003) ‘Empty ethics: the problem with informed consent’, Sociology of Health and Illness, 25: 768–92. —— (2004) ‘Informed consent: the contradictory ethical safeguards in pharmacogenetics’, in R. Tutton and O.P. Corrigan (eds) Genetic Databases: Socio-ethical Issues in the Collection and Use of DNA. London: Routledge. Corrigan, O.P. and Peterson, A. (2008) ‘UK Biobank: bioethics as a technology of governance’, in H. Gottweis and A. Petersen (eds) Biobanks: Governance in Comparative Perspective. London: Routledge. Corrigan, O. and Tutton, R. (2006) ‘What’s in a name? Subjects, volunteers, participants and activists in clinical research’, Clinical Ethics, 1 (2): 101–104. Corrigan, O.P. and Williams-Jones, B. (2006) ‘Pharmacogenetics: the bioethical problem of DNA investment banking’, Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences, 37: 549–64. Cragg Ross Dawson (2000) Public Perceptions of the Collection of Human Biological Samples, London: Wellcome Trust/MRC. Eensaar, A. (2008) ‘Estonia: ups and downs of a biobank project’, in H. Gottweis and A. Petersen (eds) Biobanks: Governance in Comparative Perspective. London: Routledge. Fuller, E., Power, C., Shepherd, P. and Strachan, D. (2006) ‘NCDS Biomedical Survey Technical Report’, National Centre for Social Research. Gibbons, S.M., Kaye, J., Smart, A., Heeney, C. and Parker, M. (2007) Governing Genetic Databases: Challenges Facing Research Regulation and Practice, SSRN.
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Gilmour, J.M. (1993) ‘“Our” bodies: property rights in human tissue’, Canadian Journal of Law and Society, 8: 113–38. Greely, H.T. (2001) ‘Human genomics research: New challenges for research ethics’, Perspectives in Biology and Medicine, 44: 221–9. Haddow, G., Laurie, G., Cunningham-Burley, S. and Hunter, K.G. (2007) ‘Tackling community concerns about commercialisation and genetic research: A modest interdisciplinary proposal’, Social Science and Medicine, 64: 272–82. Hayden, C. (2007) ‘Taking as giving: bioscience, exchange and the politics of benefit sharing’, Social Studies of Science, 37: 729–58 Hirtzlin, I., Dubreuil, C., Préaubert, N., Duchier, J., Jansen, B., Simon, J., Lobato de Faria, P., PerezLezaun, A., Visser, B., Williams, G.D. and Cambon-Thomsen, A. (2003) ‘An empirical survey on biobanking of human genetic material and data in six EU countries’, European Journal of Human Genetics, 11: 475–88. Hoeyer, K. (2002) ‘Conflicting notions of personhood in genetic research‘, Anthropology Today, 18 (5): 9–13. House of Commons Select Committee on Science and, Technology (2003) Third Report (March) available at http://www.publications.parliament.uk/pa/cmselect/cmsctech/132/13206.htm House of Lords Select Committee on Science and, Technology (2001) Human genetic databases: challenges and opportunities: with further evidence. London: Stationery Office. HUGO (2002) ‘HUGO Ethics Committee Statement on Human Genomic Databases’ available at http://www.hugo-international.org/img/genomic_2002.pdf accessed 27th October 2007. Human Genetics Commission (2001) Public Attitudes to Human Genetic Information: People’s Panel Quantitave Study. London: Department of Health. Human Genome Organisation Ethics Committee (2000) ‘Statement on benefit sharing’, Clinical Genetics, 58: 364–66. Joly, Y. and Knoppers, B.M. (2006) ‘Pharmacogenomic data sample collection and storage: ethical issues and policy approaches’, Pharmacogenomics, 7: 219–26. Kerr, W. A., Hobbs, J. E. Yampoin, R. (1999) ‘Intellectual Property Protection, Biotechnology and Developing Countries; Will the TRIPS Be Effective?’, AgBioForum, 2, 3 and 4: 203–211. Knoppers, B.M. and Chadwick, R. (2006) ‘Human genetic research: emerging trends in ethics’, Focus, 4: 416–22. Kuo, Wen-Hua (2008) ‘Race at the frontier of pharmaceutical regulation: an analysis of the racial difference debate at the ICH’, Journal of Law, Medicine and Ethics, Fall: 498–505. Landecker, H. (1999) ‘Between beneficence and chattel: the human biological in law and science’, Science in Context, 12: 203–25. Lewis, G. (2004) ‘Tissue collection and the pharmaceutical industry: investigating corporate biobanks’, in R. Tutton and O. Corrigan (eds) Genetic Databases: Socio-Ethical Issues in the Collection and Use of DNA. London and New York: Routledge. Lowrence, W.W. (2006) ‘Access to Collections of Data and Materials for Health Research’, London: MRC and Wellcome Trust. Martin, P. (2001) ‘Genetic governance: the risks, oversight and regulation of genetic databases in the UK’, New Genetics and Society, 20, 2: 157–184. Maschke, K. (2005) ‘Navigating an ethical patchwork – human gene banks’, Nature Biotechnology, 23, 5: 539–545. McKie, R. (1997) ‘Iceland’s gene pool holds the key to curing diseases. But drug firms will have to pay millions to get in’, Observer, 9 November: 14–15. Nelkin, D. and Andrews, L. (1998) ‘Homo economicus: commercialisation of body tissue in the age of biotechnology’, Hastings Center Report, 28, 5: 30–9. Novas, C. (2006) ‘The political economy of hope: patients’ organizations, science and biovalue’, Bioethics, 1: 289–345. Nowotony, H., Scott, P. and Gibbons, M. (2001) Re-thinking Science: Knowledge and the Public in an Age of Uncertainty. Cambridge: Polity Press.
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Palsson, G. (2008) ‘The rise and fall of a biobank: the case of Iceland’, in H. Gottweis and A. Petersen (eds) Biobanks: Governance in Comparative Perspective. London: Routledge. —— (2002) ‘The life of family trees and the book of Icelanders’, Medical Anthropology, 21: 337–367. People Science and Policy Ltd (2002) ‘Biobank UK: a question of trust: a consultation exploring and addressing questions of public trust’, London: MRC and Wellcome Trust. Petersen, A. (2007) ‘Biobanks’ “engagements”: engendering trust or engineering consent?’, Genomics, Society and Policy, 3, 1: 31–43. Power, C. and Elliott, J. (2006) ‘Cohort profile: 1958 British birth cohort (National Child Development Study)’, International Journal of Epidemiology, 35: 34–41. Prainsack, B. (2008) ‘Governing through biobanks: research populations in Israel’ in H. Gottweis and A. Petersen (eds) Biobanks: Governance in Comparative Perspective. London and New York: Routledge. Rabeharisoa, V. and Callon, M. (1998) ‘The participation of patients in the process of production of knowledge: the case of the French Muscular Dystrophies Association’, Sciences Sociales et Santé, 16: 41–65. Rose, H. (2001) ‘The commodofocation of bioinformation: the Icelandic health sector database’, London: Wellcome Trust. Rothstein, M.A. (2002) ‘The role of IRBs in research involving commercial biobanks’, Journal of Law, Medicine and Ethics, 30: 105–8. Sgaier, S.K., Jha, P.A. Mony, P., Kurpad, A., Lakshmi, V., Kumar, R. and Ganguly, N.K. (2007) ‘Biobanks in developing countries: needs and feasibility’, Science, 318: 1074–5. Shiva, V. (1997) Biopiracy: The Plunder of Nature and Knowledge. Boston, MA: South End Press. Terry, S. and Boyd, C. (2001) ‘Researching the biology of PXE: Partnering in the Process’, American Journal of Human Genetics, 106: 177–184. Triendl, R, and Gottweis, H. (2008) ‘Governance by stealth: large-scale pharmacogenomics and biobanking in Japan’, in H. Gottweis and A. Petersen (eds) Biobanks: Governance in Comparative Perspective. London and New York: Routledge. Tutton, R. (2004) ‘Persons, property and gift: exploring languages of tissue donation to biomedical research’, in R. Tutton and O. Corrigan (eds) Genetic Databases: Socio-ethical Issues in the Collection and Use of DNA. London: Routledge. —— (2007) ‘Banking expectations: the promises and problems of biobanks’, Personalized Medicine, 4, 4: 463–9. Tutton, R. and Corrigan, O. (2004) Genetic Databases: Socio-Ethical Issues in the Collection and Use of DNA. London and New York: Routledge. UK Biobank (2006) Consent Form available at http://www.ukbiobank.ac.uk/docs/2006Consentform A.pdf. accessed 27th October 2007 —— (2003) Summary of UK Biobank Interim Advisory Group on Ethics and Governance, 2nd Meeting, London. Wellcome, Trust (2006) ‘From biobanks to biomarkers: Translating the potential of human population genetics research to improve the quality of health of the EU citizen’. London: Wellcome Trust. Williams, R and Johnson, P. (2004) ‘Wonderment and dread: representations of DNA in ethical disputes about forensic DNA databases’, New Genetics and Society, 23, 2: 205–223. Williamson, C. (1999) ‘The challenge of lay partnership’, British Medical Journal, 319: 721–2. Winickoff, D.E. and Winickoff, R.N. (2003) ‘The charitable trust as a model for genomic biobanks’, New England Journal of Medicine, 349: 1180–84. Wylie, J.E. and Mineau, G.P. (2003) ‘Biomedical databases: protecting privacy and promoting research’, Trends in Biotechnology, 21: 113–116.
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Section Five Bioethics and genetics
22 Introduction Ruth Chadwick
Bioethics remains a highly contested field, and perhaps nowhere more so than in its relationship with genetics and genomics. The dedicated funding for research on ethical, legal and social issues (ELSI) in relation to the Human Genome Project (and the analogous ELSA programme in Europe) gave a high profile to the field of study, giving rise to extensive discussion about the results, and about the future of bioethics. The contested nature of the field arises partly from disagreements about whether it is a branch of applied ethics, in turn a type of applied philosophy, or whether it is a multidisciplinary field of study open to many approaches, or whether, again, it is developing as a discipline in its own right. In some of its manifestations it is criticised for being insufficiently attentive to social context, or for having a particular agenda. In this section, for example, Jackie Leach Scully writes of the uneasy interactions between bioethics and disability. Arguably, however, both have been disadvantaged by a tendency to overlook the heterogeneity in each of them. Bioethics is sometimes represented as if it is one approach to developments such as have taken place in genetics and genomics, even sometimes just as the so-called ‘four principles’ of biomedical ethics. Criticisms may then be directed to this approach (as represented), without being alive to the diversity of the field, evidenced for example in the debates internal to bioethics between feminist bioethics, virtue ethics approaches and Kantian approaches. This is not intended to be an exhaustive list. Towards the end of her paper, Scully draws attention to this diversity, which, she surmises, offers the hope of a more fruitful relationship between bioethics and disability in the future. While the term ‘bioethics’ is usually attributed to Van Rensselaer Potter (1971), who used it to refer to issues relevant to the biosphere as a whole, the development of bioethics as a distinct field of study is normally traced to developments in the 1960s, including both advances in health care itself (such as kidney dialysis and organ transplantation) that gave rise to new issues that needed to be addressed; and to social and political movements concerning individual and group rights, leading to liberalisation regarding homosexuality and abortion, among other things. In its earliest manifestations it was largely concerned with relationships between health care professionals and individual patients, and with allocation of resources. The focus of bioethical thinking, given its roots, was primarily individualistic. Towards the end of the twentieth century, however, 321
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the field of bioethics expanded its scope and reviewed its theoretical repertoire, and this coincided with and was arguably influenced by rapid developments in the field of genomics, as population genetic research became increasingly high profile. Public health perspectives became more prominent, and explicit attention was given to the ways in which ethical thinking was shifting (for example, Knoppers and Chadwick 2005). Discussion of ethical aspects of medicine, of course, preceded the emergence of bioethics as a distinct field, and the history of discussion of genetics in particular has been a fraught one, because of the legacy of social and political circumstances in which genetics has been misused. The issues surrounding ethics and disability, therefore, have a considerably longer history than that which we find since the development of the distinct field of bioethics. The history of eugenics, and responses to that, however, have arguably been other factors in the predominance of the framing of individualism and the rhetoric of choice, to be found in bioethical discussion of genetics prior to the shifts to a population-wide perspective mentioned above. The history of the ethical debates, from eugenics to human genetic engineering, is traced in the illuminating chapter in this section by Evans and Schairer. Their contribution demonstrates the ways in which interventions are made respectable by bringing them within the circle of ‘medicine’. Despite other scientific developments, such as stem cell research, the prospect of gene therapy continues to constitute an interesting case study of a much hoped-for intervention that promised much at an early stage and fell into controversy surrounding failed experiments, including the death of Jesse Gelsinger, and concerns about conflict of interest in research. As Evans and Schairer show, however, certain distinctions (which are questionable) such as the distinction between therapy and enhancement, are used to lend respectability to some aspects of gene transfer. It is interesting to track also, both the ways in which the new population perspectives distance themselves from the older, explicitly eugenic, ones, and the ways in which emphasis on the importance of the study of human variation attempts to avoid the problems encountered by the Human Genome Diversity Project. Advances in science and technology can produce a situation in which it is no longer possible to think in a certain way, and this leads to the requirement to rethink the meaning of certain concepts. Obvious examples include the definition of death; the meaning of parenthood; the understanding of the term ‘embryo’. A prominent example of an ethical concept that has come under increasing scrutiny in the context of genetics and genomics is that of privacy. Privacy has been under pressure, first within the genetic clinic, in the light of the dilemmas of disclosure, e.g. of non-paternity or of health status, then in the context of population genetic research, in the light of the establishment of databases on a large scale. These include both electronic databases (as in the Human Variome Project) and the collection of biological samples linked to personal information, biobanks, with associated debates about anonymisation and coding. Beyond the developments in research themselves, however, other social and political changes in the post 9/11 world are also relevant, as interest in security moves centre-stage, with concomitant developments in biometric identification technologies. Hence it is important to examine critically the ways in which privacy is being rethought, and this subject is addressed in the contribution to this section by David Weisbrot. While his chapter deals explicitly with the Australian context, it has implications that are far-reaching. Animal biotechnology, and animal issues more generally, have arguably been under represented in the bioethics literature. This might appear strange, as one of the early pioneers in the field was Peter Singer, who also published the ground-breaking book Animal Liberation in the 1970s (Singer 1975). The importance of animal issues is 322
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highlighted by developments in genomics: with regard to transgenic animals, not only are there animal welfare considerations to consider but attention is increasingly turning to issues of the dignity of the animals in question. While ‘dignity’ has been a hotly contested concept in human bioethics, the employment of the concept in the context of animal bioethics raises important issues that go beyond suffering, such as the ability of the animal to live according to its natural kind. Comparative genomics, moreover, has implications for the identity of species and of our own relations with other species, in the light of the ongoing search for what, if anything, makes humans unique. As new technologies come on the scene as candidates for ethical discussion, such as nanotechnology, a question frequently asked is ‘What’s new?’ Genetics and genomics have to a certain extent become a reference point against which further developments are measured, as regards the ethical aspects. While much has been learned from the genomics debates, however, thinking in this area is far from settled, as both concepts and methodologies in bioethics are continually open to development.
References Knoppers, B.M. and Chadwick, R. (2005) ‘Human genetic research: emerging trends in ethics’, Nature Reviews Genetics, 6, 1: 75–9. Lunshof, J., Chadwick, R., Church, G. and Vorhaus, D. (2008) ‘From genetic privacy to open consent’, Nature Reviews Genetics, 9, 5: 406–11. Potter, V.R. (1971) Bioethics: Bridge to the Future. New York: Prentice-Hall. Singer, P. (1975) Animal Liberation. London: Random House.
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23 Rethinking privacy in the genetic age David Weisbrot
Introduction Privacy and the protection of human genetic information An individual right to privacy emerged at international law in the 1950s, with Article 8 of the European Convention on Human Rights1 enunciating a broad, general protection for a person’s private and family life, home and correspondence from arbitrary interference by the State. The right is qualified, insofar as the State may interfere with personal privacy: in pursuit of a legitimate objective (such as public order);2 in accordance with the law; and where such interference is reasonably justifiable in a democratic society. Article 17 of the International Covenant on Civil and Political Rights3 adopts a similar model, and most countries now have constitutional guarantees of a general (if qualified) right to privacy. The Canadian Charter of Rights and Freedoms 1982 does not contain a specific guarantee of the right to privacy, but four provinces provide statutory protection.4 Australia – one of the very rare democracies without a Bill of Rights – does offer information/data privacy protection through the federal Privacy Act 1988 (Cth), as well as similar laws in the states and territories. Privacy protection has come under enormous challenge in recent times, with the development of the internet, e-commerce and social networking, rapid advances in computing power and other information and communication technologies, and increasing concerns about international terrorism, organised crime and money laundering. Most of the public attention has been focused on information privacy and audio-visual surveillance (in public places and at work), with growing concerns about the increasing collection, storage and use of personal information held in public and private databases, as well as the now routine transborder flow of this data.5 ALRC Inquiry into genetic ethics, privacy and discrimination Similarly rapid advances in genetic science and technology have spurred less widely discussed – but no less pressing – concerns about the protection of human genetic information. 324
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In 1999, a genetic counsellor and a postgraduate law student distributed a survey form to clinical geneticists and genetic support groups in Australia and New Zealand. The findings, reported widely in the media in August 2000, indicated that about 50 people identified themselves as being the victims of genetic discrimination, mainly in respect of insurance underwriting (Barlow-Stewart and Keays 2001). At about the same time, media interest was rising with regard to the imminent completion of the Human Genome Project. In February 2001, the Australian Government announced the establishment of a major two-year inquiry by the Australian Law Reform Commission (ALRC) and the Australian Health Ethics Committee (AHEC) – a principal committee of the National Health and Medical Research Council (NHMRC) – into the ethical, legal and social implications of rapid advances in genetic science and technology, or what was then commonly referred to as the ‘New Genetics’. The Terms of Reference for the inquiry (‘the Inquiry’) directed the ALRC and AHEC to consider, with respect to human genetic information and the samples from which such information is derived, how best to: protect privacy; protect against unfair discrimination; and ensure the highest ethical standards in research and practice. The Inquiry examined these basic issues across a wide range of contexts, reflecting the growing breadth and impact of human genetic science and technology in modern society, extending to: the ethical oversight of scientific and medical research; the provision of clinical genetic services; the collection, storage, analysis and use of DNA samples by law enforcement authorities; the use of genetic information in insurance underwriting; the use of genetic information by employers; the use of genetic information by immigration authorities; the management of tissue banks, genetic registers and human genetic research databases; DNA parentage and kinship testing; the role of genetic information (if any) in the construction of racial, ethnic and cultural (including Aboriginal) identity; and the use of genetic testing and information in sports. The final report, Essentially Yours: The Protection of Human Genetic Information in Australia (ALRC 96), was launched on 29 May 2003. From the beginning, the Inquiry recognised the need for extensive public involvement and widespread consultation, engaging the general community as well as the recognised experts and interest groups. To this end, the Inquiry initially released a substantial Issues Paper (IP 2001) and then a more detailed Discussion Paper (DP 66 2002) to promote public education and debate; conducted a series of 15 open forums in all capital cities and the major regional centres; initiated well over 200 meetings with interested parties in Australia and overseas; and received nearly 350 written submissions. The ideas and perspectives provided in this chapter were developed through this experience.6 325
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Eschewing ‘genetic exceptionalism’ A threshold question for developing policy on ‘genetic privacy’ is whether to embrace notions of ‘genetic exceptionalism’; that is: the idea that genetic information is so fundamentally different from, and more powerful than, all other forms of personal information that it requires different and higher levels of legal protection. (ALRC 96, para. 3.41) The initial public policy responses to the shock of the ‘New Genetics’ largely followed this approach, most clearly represented by the work of Professors Annas, Glantz and Roche of the Boston University School of Public Health, who produced the influential Model Genetic Privacy Act. In Australia, a Genetic Privacy and Non-Discrimination Bill, based on the US model, was introduced into the Parliament in 1998, in a first attempt to raise consciousness and stimulate public debate about these issues (ALRC 96, para 3.42).7 In the words of Professors Annas, Glantz and Roche, ‘genetic information is uniquely powerful and uniquely personal, and thus merits unique privacy protection’ (1995: 365). This approach is predicated on the basis that an individual’s DNA amounts to ‘a coded probabilistic future diary [which] describes an important part of a person’s unique future’ (Annas et al. 1995: 360). Now that the novelty of dealing with human genetics has passed, however, the prevailing view favours a more ‘inclusivist’ approach. For example, the Inquiry noted that: Given the plethora of existing regulation relating to the privacy protection of genetic information, it seems more appropriate to amend existing legislation to ensure that issues of genetic privacy are adequately covered rather than to add another layer of complexity by enacting genetic privacy legislation. (ALRC 96, para 7.63) The Inquiry concluded that while genetic information has some special characteristics that distinguish it from most other forms of personal information … genetic privacy issues and reform options are often similar to those applicable to information privacy generally and, in particular, to the privacy of medical records and other health information (ALRC 96 para 7.65) The lesson for policymakers is that they should: (a) refrain from making artificial and unproductive distinctions between ‘genetic’ and ‘non-genetic’ information; and (b) adapt existing laws and practices to meet the special features and challenges of genetic information, rather than creating new specialist regimes. The United Kingdom’s Human Genetics Commission has undertaken a useful survey of laws relating to the protection of genetic information, covering Australia, Canada, the US, Germany, the Netherlands and Sweden (Crosby 2000).8 As a general matter, most Western countries have general information privacy (data protection) legislation – some of which distinguishes between health information and 326
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other personal information. However, there are few national laws dealing specifically with protection of personal genetic information.9 The Essentially Yours report expressly sought to build upon what the Australian community has learned in recent years from dealing with the challenges of HIV/AIDS – in terms of privacy, non-discrimination and non-stigmatisation, as well as in terms of community education, the importance of pre- and post-test counselling, the mandating of best practice in laboratories, and sensible and effective public health administration. In particular, the ALRC preferred to adapt existing privacy laws and safeguards, as well as existing anti-discrimination laws and watchdog bodies, rather than recommend the establishment of new ones dedicated only to disputes arising out of a person’s real or perceived genetic status. Critically, it was felt that successfully fulfilling this brief required not merely providing adequate protections against the unlawful use of genetic information, but also putting into place measures and strategies aimed at ensuring a higher order goal: that where such information may be used lawfully, it will be used properly, fairly and intelligently. Thus, the 144 recommendations contained in Essentially Yours were addressed to 30 different ‘actors’ besides the Australian Government. On 9 December 2005, the Attorney-General and the Minister for Health and Ageing released the Australian Government’s ‘whole-of-government’ response to Essentially Yours, accepting the great majority of the 144 recommendations, and strongly endorsing the Inquiry’s basic philosophical approach and strategies on the protection of human genetic information.10 Key general recommendations The extraordinary breadth of the issues raised by human genetics, coupled with the rapid advances in the science and technology, meant that significant law reform would not likely be achieved via an omnibus ‘Human Genetics Act’. Rather, the Inquiry endeavoured to develop a sophisticated mix of strategies and approaches, including some legislative amendments and regulations; official standards and codes of practice (such as those promulgated by the NHMRC and the Office of the Federal Privacy Commissioner); industry codes and best practice standards; education and training programmes (ranging from community education through to continuing professional education and specialist medical training); and better coordination of governmental and intergovernmental programmes. The central recommendation in Essentially Yours called for the establishment of a standing advisory body on human genetics to provide high-level, technical and strategic advice to Australian governments, industry and the community about current and emerging issues in human genetics, as well as providing a consultative mechanism for the development of policy statements and national standards and guidelines in this area (ALRC 96, Ch. 5 (Rec. 5–1 to 5–9)). This recommendation was accepted by the Australian Government, and in the May 2005 Budget, the Government appropriated A$7.6 million over four years to establish a Human Genetics Advisory Committee (HGAC) as a new principal committee of the NHMRC. In taking these steps, the Government noted that: Rapid developments in human genetics and related technologies are likely to provide substantial benefits for Australians, particularly for health. However, there are many complex social, legal, ethical and scientific issues that arise from these 327
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technologies. The new advisory body will ensure that these matters receive careful assessment. The advisory body will consider the impact of new technologies and provide advice on how they might best benefit Australians.11 The establishment of the HGAC will ensure that Government, regulators, industry and the general community can expect to receive on-going, high-level, technical and strategic advice, providing a strong platform for policy-making in a rapidly changing environment. Not least, the HGAC can provide national leadership in managing the process of change in relation to human genetics, including engagement of the public on these issues, and provide a forum and a consultative mechanism missing since the ALRCAHEC Inquiry concluded in mid-2003.
Privacy protection While human genetic information has some special characteristics that distinguish it from other forms of health information – especially in terms of its ubiquity and durability, and the familial dimension (see ALRC 96: Ch. 3) – genetic privacy issues are usually similar in nature to those applicable to information privacy generally, and to the privacy of medical records and other sensitive health information in particular. The Inquiry concluded that, while some weaknesses in the existing legislative privacy framework could be identified, they would best be addressed through changes to general information and health privacy laws – in particular, the Privacy Act 1988 (Cth) – and practices, rather than through the development of a new regulatory framework dedicated to the protection of genetic information (see ALRC 96: Ch. 3). Under Australia’s complex federal arrangements, most state, territory and local government bodies are not covered by the Privacy Act – including public hospitals and other health service providers. Similarly, private sector health service providers working under contract for a state, territory or local government agency are not covered by the Privacy Act. In such cases, the applicable practices and protections must be found in the relevant state or territory privacy laws, although in many cases these apply similar principles to those in the federal law. The Privacy Act 1988 The federal Privacy Act is intended to protect the personal information of individuals and to give them control over how that information is collected, used and disclosed. The legislation sets out certain safeguards that federal government agencies, private sector organisations and individuals must observe, and also gives individuals rights to access and correct their own personal information. Under s. 6(1) of the Privacy Act, ‘personal information’ is defined as information or an opinion (including information or an opinion forming part of a database), whether true or not, and whether recorded in a material form or not, about an individual whose identity is apparent, or can reasonably be ascertained, from the information or opinion. For the purposes of the private sector provisions (see below), the Privacy Act also creates a special category of ‘sensitive information’ and gives this a higher level of protection. 328
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Sensitive information is defined in s. 6 as ‘information or an opinion about an individual’s racial or ethnic origin; political opinion; political association membership; religious beliefs, affiliations or philosophical beliefs; professional or trade association membership; union membership; sexual preferences; criminal record; or is health information about an individual’. Prior to the ALRC’s Inquiry, ‘health information’ was separately defined in s. 6 as: ‘information or an opinion’ about an individual’s health or disability; an individual’s expressed wishes about the future provision of health services; information about health services provided (or to be provided) to the individual; and other personal information collected about the individual, in connection with the provision of a health service or an intended donation of ‘body parts, organs or body substances’.12 In keeping with the pattern of legislation in most of the Western world, the Privacy Act contains privacy safeguards set out in a number of Information Privacy Principles (IPPs) and National Privacy Principles (NPPs). The IPPs cover collection, storage and security, use, disclosure and access to ‘personal information’ held by Australian government agencies. The ‘golden rule’ operating in this area is that personal information may be collected only where it is lawful and necessary for an agency’s functions, and may be used only for the purpose for which it was collected. An alleged breach of the IPPs may give rise to an investigation by the federal Privacy Commissioner, who has powers under the Privacy Act to make determinations – which only may be enforced by the Federal Court after a new hearing. The Commissioner also can initiate investigations without a complaint and has powers to seek injunctions. In addition, the Commissioner has the power to audit the handling of personal information by Australian government agencies. Initially, the privacy protection afforded by the IPPs extended only (with limited exceptions) to the personal information handling practices of a federal government ‘agency’, but the Act was extended to the private sector commencing 21 December 2001 – including such entities as private hospitals, doctors and other health practitioners, and insurance companies. Private sector organisations must comply with the NPPs, which set out how to collect, use and disclose personal information, maintain data quality, keep personal information secure, maintain openness, allow for access and correction of personal information, use identifiers, allow anonymity, conduct transborder data flows and collect sensitive information. Some of these principles are similar to the IPPs; however, among other differences, the NPPs contain special provisions for ‘sensitive information’, a subset of which is ‘health information’. Under the Act, organisations and industries can develop their own privacy codes (for approval by the Privacy Commissioner), which must provide privacy protection of at least equivalent standard to the NPPs. Where no such code has been put in place, the NPPs apply as the default position. Small business operators – defined by s. 6D as those with an annual turnover of less than $3 million – have extensive exemptions from the Privacy Act.13 However, all organisations or individuals that provide health services and hold any health information (except in an employee record) are subject to the private sector provisions, regardless of their size and income. Due to the broad definitions used in the Privacy Act, health service providers are not limited to hospitals, medical practitioners and others traditionally considered part of the health care system. Such organisations and individuals may include gyms and weight loss clinics. Alternative medicine practitioners, pharmacists, mental health professionals, optometrists, and social welfare and counselling service providers 329
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also would be considered to be health service providers, whether the service is provided face-to-face, over the phone, via mail order or the internet. However, small business organisations that provide no health services, but merely collect and store health information on behalf of others, probably would not be caught by the Privacy Act. Consent and the collection and use of genetic information Most genetic information about identifiable individuals is obtained from the taking of family medical history or from medical genetic testing, whether diagnostic or predictive, carrier or prenatal. Therefore, such genetic information would likely fit within the definition of health information. Diagnostic testing most clearly counts as health information, since it is information about the health of the individual. Family history and predictive testing would generally also qualify, since it is ‘information or an opinion about the health or disability (at any time) of an individual’ in terms of s. 6 of the Privacy Act, even where it deals only with probabilities. The Federal Privacy Commissioner’s Guidelines on Privacy in the Private Health Sector (2001) state that health information includes ‘genetic information, when this is collected or used in connection with delivering a health service, or genetic information when this is predictive of an individual’s health’. For the same reason, genetic information provided to insurers or employers also may constitute ‘health information’, even though it is not taken for clinical or therapeutic purposes. Prior to the 2006 amendments discussed below, the position was less clear with respect to other forms of genetic testing. For example, carrier testing is not information about the health or disability of the tested individual – rather, the information is about the health of potential future children. Other forms of genetic information that may not fall within the traditional definition of health information include genetic information collected and used to establish parentage or for the purposes of forensic investigation. NPP 1 provides that an organisation must not collect personal information unless the information is necessary for its functions and must collect personal information only by lawful and fair means and not in an unreasonably intrusive way. Individuals must be informed about various matters such as their access rights, the purposes of collection and to whom the organisation usually discloses information of that kind. In general, an organisation must collect personal information about an individual only from that individual, rather than from any third party. The Federal Privacy Commissioner’s Guidelines on Privacy in the Private Health Sector states that there are three key elements involved in seeking consent to use health information in particular ways: (1) consent must be provided voluntarily; (2) the individual must be adequately informed; and (3) the individual must have capacity to understand, provide and communicate his or her consent. Consent is of particular importance in the collection of genetic information, as compared with most other forms of health information, given the special characteristics of genetic information and the ethical considerations involved in decision-making about genetic testing. For consent to be truly voluntary, there must be no undue pressure or coercion. On one view, an individual’s consent may not be voluntary and valid if the individual is denied some benefit or is disadvantaged in some way because they refused consent. These dimensions of consent may become relevant when considering the application of the NPPs to genetic testing by an employer, prospective employer or for insurance purposes. 330
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NPP 10 contains provisions dealing specifically with collection of health information for the purposes of providing health services. Under NPP 10, a health provider generally must not collect sensitive information (including genetic and other health information) unless the individual has consented. However, NPP 10 then sets out a number of specific circumstances in which an organisation may collect sensitive information without consent, including: where collection is required by law; in specified circumstances relating to the provision of health services; and in circumstances related to public interest, such as for research relevant to public health and safety. As noted, some collection of information necessary for research or statistical purposes may be done without an individual’s consent – but only where obtaining consent is impracticable, de-identified information would not be suitable, and the collection is carried out in accordance with guidelines issued by the NHMRC and approved by the Privacy Commissioner.14 NPP 2 provides generally that an organisation must not use or disclose personal information about an individual for a purpose other than the primary purpose of collection (that is, for a secondary purpose). NPP 2 then sets out a range of circumstances in which an organisation may use or disclose personal information for a secondary purpose, including: where the secondary purpose is related (or directly related in the case of health and other sensitive information) to the primary purpose and the person would reasonably expect such use or disclosure; where the individual has consented to the use or disclosure; and in circumstances related to public interest, such as for research relevant to public health and safety and for law enforcement purposes. The Privacy Commissioner’s Guidelines on Privacy in the Private Health Sector provides a range of examples of secondary purposes for which the use or disclosure of personal information would usually be permissible without consent, provided it is within the reasonable expectations of the individual concerned. These include sharing information with other health service providers within a multidisciplinary health care team. Other directly related secondary purposes may include many activities or processes necessary to the functioning of the health sector, including use or disclosure in connection with: providing an individual with further information about treatment options; billing or debt-recovery; an organisation’s management, funding, service-monitoring, complainthandling, planning, evaluation and accreditation activities; addressing liability indemnity arrangements, for example, in reporting an adverse incident to an insurer; and disclosure to a clinical supervisor by a psychiatrist, psychologist or social worker. The familial dimension of genetic information Genetic records often contain information about the biological relatives of the individual to whom the information primarily relates. For example, in most genetic studies a ‘pedigree’ is drawn. This involves the identification of a number of family members some of whom may be quite distant in terms of their social relationship. The pedigree is likely to be essential to derive the mode of inheritance and, from this, the range of disorders that might apply to the genetic family and the person being tested. Privacy laws are largely built around the protection and vindication of individual rights. A key issue for the Inquiry was whether the familial or collective nature of genetic information also requires recognition as a basic element of the privacy protection regime. This would involve a shift away from the ‘rights model’ towards a ‘medical model’, based primarily on what doctors consider best practice in providing medical care for patients 331
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and their families. Control of genetic information would be ‘shared’ among genetic relatives: On this model, people would not have the ultimate right to ‘control’ their information and the use of their tissue taken for genetic testing (though the nature and use of the information and tissue will be fully discussed at the outset before testing is undertaken); and doctors will have a special role in providing and imparting genetic information that may appear contrary to their traditional obligation to maintain patient confidentiality.15 (Skene 1998) This model for regulating genetic information, if adopted, would lead to quite different constraints being placed on the collection and disclosure of genetic information than those currently applicable under the Privacy Act. As a general matter, under existing law, the collection of information about genetic relatives without their consent is not permitted. By long tradition, of course, doctors have collected from patients a family medical history, which contains personal information about a large number of persons without their individual consent. Following the extension of the Privacy Act to the private sector, doctors sought (through the Australian Medical Association) an exemption from the Act in this regard; the Privacy Commissioner agreed and granted a Public Interest Determination (that is, an exemption on public interest grounds) permitting doctors to continue this routine practice without running foul of the Act. More controversial, however, are issues of access and disclosure of genetic information to relatives. Under the Privacy Act, disclosure of genetic information, other than for the primary purpose of treating the person tested, only was permitted (until the recent amendments discussed below) with the consent of that person. However, in some circumstances, the disclosure of genetic test information could allow the prevention of serious health consequences in genetic relatives – for example, where an individual’s test results are positive for mutations linked with colorectal cancer or breast cancer. Ideally, and in many instances, the patient will consent to informing relatives, so that they make seek their own medical advice, including screening. Where consent is not obtained, in most circumstances (where disclosure is not for the primary purpose of collection or for a directly related secondary purpose), a health services provider only may disclose personal information to a relative if this is necessary to lessen or prevent a serious and imminent threat to an individual’s life, health or safety (NPP 2.1 (e)(i)). However, a familial predisposition to cancer or other genetic conditions generally would not be regarded as a sufficiently imminent threat to justify disclosure in breach of a patient’s wishes. In its 1997 report and proposed ethical guidelines, the Cancer Genetics Ethics Committee of the Anti-Cancer Council of Victoria recommended that patients should no longer be able to prevent the disclosure of such relevant genetic information to their relations: It is as members of families that they are at risk, and because of family history which they share with many others that they may end up having a genetic test. The condition is necessarily shared, and the diagnosis of it necessarily implicates their relations. (CGEC 1997: para. 10.18) 332
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The Anti-Cancer Council report’s proposed familial cancer guidelines suggested that where it becomes necessary to inform relatives of a genetic risk, the patient will first be asked to consent. If the patient objects, the information may be disclosed in de-identified form so that the relative is informed that the mutation exists in the family but not about the patient’s identity or genetic status (even though these may be able to be inferred) (CGEC: Guideline 16). How significant the genetic risk must be in order to justify disclosure without consent under the guidelines is not entirely clear. The familial nature of genetic information also raises access issues. The High Court of Australia has ruled that neither common law nor equity confers a general right of patient access to medical records (Breen v. Williams (1996) 186 CLR 71). However, since December 2001, the Privacy Act (NPP 6) provides individuals with a statutory right, subject to some limited exceptions,16 to access their own personal information upon request, and to correct the information if it is not accurate, complete and up-to-date. It may be particularly important to provide the individual with an opportunity to discuss his or her genetic health information when he or she seeks access to it, in order to help prevent the information being misunderstood or taken out of context – both special dangers with genetic information, especially predictive information. Where a person is being assessed or treated for a genetic condition by a medical practitioner, the starting point under the Privacy Act is that the person has a right of access to the genetic records collected by the medical practitioner. However, these records may contain information about the family as a whole, including, for example, information about non-paternity as well as the genetic status of other individuals. Where the information relates to a genetic relative who is not a patient of the practitioner, the obligation to provide access to the genetic relative under the Privacy Act may conflict with a practitioner’s legal and ethical duties of confidentiality with respect to his or her patient. NPP 6 provides that access may be refused to the extent that ‘providing access would have an unreasonable impact upon the privacy of other individuals’. Therefore, in some circumstances, a medical practitioner may be entitled to refuse access to part of the records. The practitioner could also provide access in ways that do not have an impact on the privacy of another person, for example, by removing the other person’s identifying details or getting his or her consent to the release of his or her information. The familial cancer guidelines provide for a presumption that genetic relatives should have access to genetic information and genetic samples in order to be able to assess their own risk (CGEC: Guideline 13). Providing more flexibility with respect to access and disclosure has implications for preserving an individual’s ‘right not to know’. This principle may have particular application to genetic testing because of the predictive power, or perceived predictive power, of genetic information in relation to a person’s long-term health experience and other physical and behavioural characteristics. Under the Privacy Act the ‘right not to know’ is protected to some extent by requiring that, in most circumstances, genetic testing will not be permitted without the informed consent of the individual concerned. The National Statement on Ethical Conduct in Research Involving Humans requires that research participants be asked, at the time of giving consent, whether or not they wish to receive the results of the tests that relate to them as individuals.17 However, protecting the right not to know becomes more problematic in the clinical context. As the Cancer Genetics Ethics Committee has observed: 333
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With a condition like FAP, in which virtually all who carry a gene mutation develop cancer, and in which the cancer may be prevented, the strong presumption should be that the relatives will be grateful for being warned. The same presumption should not be made in a cancer such as breast cancer, where the risk of developing cancer … is less than 100 per cent and there is no assurance of a successful medical intervention. (CGEC: Guideline 16)18
Other domestic privacy protection Decisions about collection and disclosure also must be taken with regard to other relevant legislation, the law and ethics of medical confidentiality and to clinical and ethical guidelines. For example, the use and disclosure of genetic information collected for clinical purposes is constrained by obligations of doctor–patient confidentiality. Disclosure that is permitted by the Privacy Act may nevertheless constitute a breach of professional ethical obligations. Similarly, researchers who collect genetic information are subject to ethical duties of confidentiality and will have obligations under research guidelines issued by the NHMRC. Unauthorised disclosure of genetic information for law enforcement purposes (that is, DNA profiling information for evidence in criminal proceedings or for inclusion in the National Criminal Investigation DNA Database) may breach provisions of the Crimes Act 1914 (Cth).
Recommended changes to privacy law The Essentially Yours report recommended a number of amendments to the Privacy Act aimed at improving the protection of human genetic samples and information. These include (and are discussed in further detail below): the harmonisation of information and health privacy laws across all Australian jurisdictions; (REC 7–1 to 7–3); the amendment of the definitions of ‘health information’ and ‘sensitive information’, expressly to include human genetic information about an individual; (REC 7–4 and 7–5); the extension of the definition of ‘health information’ to include information about an individual who has been dead for 30 years or less; (REC 7–6); the extension of coverage of the Privacy Act to all small business operators that hold genetic information or samples; (REC 7–7); the extension of the Privacy Act to cover identifiable genetic samples; (REC 1 and 8–2); the creation of a right of an individual to access his or her own body samples for the purpose of medical testing, diagnosis or treatment; (REC 8–3); permitting a medical professional to disclose genetic information about his or her patient to a genetic relative, where this disclosure is necessary to lessen or prevent a serious threat to an individual’s life, health or safety; (REC 21–1); the creation of a right of an individual to access genetic information or body samples of his or her first-degree genetic relatives; (REC 8–4 and 21–23); and 334
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amendments to ensure that employee records containing genetic information are subject to the protections of the Privacy Act; (REC 34–1 and 34–2). Harmonisation of health privacy regimes Essentially Yours recommended that, ‘as a matter of high priority’, all Australian jurisdictions pursue the harmonisation of information and health privacy legislation as it relates to human genetic information. The Report noted that Australian health ministers had established a National Health Privacy Working Group in July 2000 to develop a National Health Privacy Code, to achieve national consistency for privacy arrangements across both the public and private sectors. The Government response supported these recommendations.19 Definitions of ‘health information’ and ‘sensitive information’ The Inquiry was of the view that genetic information should receive the heightened protection afforded to health and other sensitive information under the Privacy Act, but that the existing definitions of health information and sensitive information did not provide the desired level of protection for all genetic information. As mentioned, there are circumstances in which genetic information may not amount to ‘health information’ – either because the information is not about health, disability or the provision of a health service (as in the case of parentage or forensic testing, where the focus is on identification), or because it is not about the health or disability of an existing individual (as is sometimes the case with genetic carrier testing). There is also a range of non-health genetic information that falls outside of the definitions of ‘sensitive information’, in particular parentage testing done by commercial laboratories. Submissions to the Inquiry generally supported proposals to amend the Privacy Act to ensure that all genetic information is treated as health information or other sensitive information under the Act. After considering definitions in other health information privacy legislation, it was recommended that the definition of ‘health information’ be amended to specify that it includes ‘genetic information about an individual in a form that is, or could be, predictive of the health of the individual or a genetic relative of the individual’ (REC 7–4; and see para 7.82). The word ‘predictive’ was not intended to bear the technical meaning used in some clinical contexts, but was chosen for the purpose of consistency with existing Australian statutory definitions. The term ‘genetic relative’ was considered more appropriate than the term ‘descendants’ used in some other formulations, in order to encompass genetic information about an individual’s siblings, parents and forebears. It was also considered necessary to amend the definition of ‘sensitive information’ to include human genetic test information, to cover genetic information derived from parentage, forensic and other identification testing that is not predictive of health (REC 7– 5). The government response accepted all of these recommendations, with the Privacy Legislation Amendment Act 2006 (Cth): inserting into s. 6(1) a definition of ‘genetic relative’; amending the definition of ‘health information’ to cover genetic information predictive of the health of the individual or a genetic relative (now s. 6(1)(d)); and amending the definition of ‘sensitive information’ to include ‘genetic information about an individual that is not otherwise health information’ (now s. 6(1)(c)). 335
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Coverage of genetic samples The Terms of Reference for the ALRC’s Inquiry specifically referred to the privacy of ‘human genetic samples and information’. A distinction is made between the genetic ‘sample’ (the biological sample – blood, tissue, saliva and so on) and genetic information that may be derived from the sample by PCR technology20 and DNA analysis. In common with most other ‘data protection’ laws internationally, the Privacy Act does not cover genetic samples, even where these are individually identifiable – for example, where the container has a name or identifier code attached. With the exception of New South Wales, no other Australian jurisdiction applies information privacy principles explicitly to body samples. There was broad support among those consulted for extension of the Privacy Act to cover identifiable genetic samples in the submissions and in the extensive national consultations conducted by the Inquiry partners. Essentially Yours identified a number of reasons why protection for genetic samples should be covered by privacy legislation: genetic samples are closely analogous to other sources of personal information that are covered by the Privacy Act and should be protected by rules that are consistent with those applying to the genetic information derived from samples; there are gaps in the existing framework for protecting the privacy of individuals from whom genetic samples are taken or derived; these gaps may be remedied if the National Privacy Principles (NPPs) or a set of similar privacy principles were to apply to genetic samples; and no circumstances have been identified in which applying the Privacy Act to genetic samples would lead to adverse consequences for existing practices involving the collection and handling of genetic samples (ALRC 96, at para 8.3.). The Inquiry made a number of recommendations about extending coverage of the Privacy Act to provide enforceable privacy standards for handling genetic samples, including: amending the definition of ‘personal information’ and ‘health information’ to include bodily samples from an individual whose identity is apparent or reasonably can be ascertained from the sample (REC 8–2); amending definition of ‘record’ to include a bodily sample (REC 8–2); making provision for an individual’s right to access his or her own bodily samples, through a nominated practitioner, for the purpose of medical testing, diagnosis or treatment (REC 8–3); and making provision for an individual’s right to access bodily samples of his or her first-degree relatives, through a nominated practitioner, where access is necessary to lessen or prevent a serious threat to his or her life, health or safety, even where the threat is not imminent (REC 8–4). The government response did not accept these recommendations, noting that the: privacy principles are designed to regulate the collection, use and disclosure of personal information, not the source of that information. Accordingly, the Government does not consider that privacy legislation is the appropriate place for 336
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regulating genetic samples. The concerns raised about the use and handling of genetic samples could be addressed in the Human Tissues Acts. Unfortunately, the government response did not engage with the detailed rationale underlying this recommendation, as set out in Essentially Yours, including the ALRC’s express preference for dealing with these matters under the federal Privacy Act rather than the various state and territory Human Tissue Acts. The matter is currently being pursued further by the new HGAC.21 Permitted disclosure of confidential genetic information by doctors As discussed above, genetic information may allow inferences to be drawn about persons other than the individual to whom the information most directly relates – especially about genetic relatives. In some circumstances, the disclosure of genetic information has the potential to prevent serious health consequences for genetic relatives by encouraging screening, which allows for the early detection and treatment of inherited genetic disorders. While it is desirable that disclosure to genetic relatives normally is made by, or with the consent of, the patient – and while acknowledging that confidentiality is a cornerstone of the doctor–patient relationship in Western medicine – it became clear to the Inquiry that a range of circumstances exist in which this does not, or sometimes cannot, occur. The Inquiry concluded there was a need to amend the Privacy Act to broaden the circumstances in which doctors and allied health professionals may use or disclose genetic information to prevent threats to life, health or safety. It was considered that the existing ‘serious or imminent threat’ test included in the National Privacy Principles (NPP 2.1(e) (i)) is too restrictive in the context of shared genetic information. The Inquiry recommended that the Privacy Act be amended so that use or disclosure of genetic information by a health professional be permitted where the health professional believes that the use or disclosure is necessary to lessen or prevent a serious threat to an individual’s life, health or safety, even where such threat is not imminent (ALRC 96, REC 21–1) – for example, where a genetic test indicates a familial predisposition to breast cancer or colon cancer. Essentially Yours noted that this amendment could be achieved either by: 1 amending NPP 2.1 (e)(i) to change the ‘serious and imminent threat’ test to a more flexible formulation that accommodates predictive genetic health information; or 2 enacting a new NPP 2.1 (e)(iii) to permit organisations to exercise a discretion, subject to guidelines issued by the NHMRC and approved by the Federal Privacy Commissioner, to disclose an individual’s genetic information to a genetic relative where such disclosure is reasonably believed to be necessary to lessen or prevent serious harm to any individual. Although Option 1 may be easier to articulate, there were some concerns that this would have implications beyond the context of genetic information – that is, by permitting disclosure of any personal information in the regulated circumstances. The Inquiry ultimately did not recommend one or other of the options, stating that further professional and community consultation should be conducted by the NHMRC to determine the preferred course of action (REC 21–22). 337
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The government response supported the recommendation that health professionals be allowed to use or disclose genetic information to prevent threats to life, health or safety: The Government supports this recommendation in principle. It notes that this recommendation has been considered in the context of the proposed National Health Privacy Code. The Code contains a provision which allows a health professional to disclose predictive genetic information about his or her patient to a genetic relative of that patient where the disclosure is necessary to lessen or prevent a serious threat to an individual’s life, health or safety, even where the threat is not imminent. The Privacy Act already allows an organisation to disclose personal information if it believes that the disclosure is necessary to lessen or prevent a serious and imminent threat to an individual’s life, health or safety. The recommendation, if implemented, would extend the right of disclosure of predictive genetic information where the threat is serious. It recognises that a genetic condition may be serious but not necessarily imminent. This is a great breakthrough in adapting general privacy law and principles to the particular circumstances of genetic privacy. The Privacy Legislation Amendment Act 2006 (Cth) inserted into the Privacy Act: (a) a new NPP2.1 (ea), per Option 2 above; and (b) a new s. 95AA, allowing the Privacy Commissioner to approve ‘guidelines that relate to the use and disclosure of genetic information for the purposes of lessening or preventing a serious threat to the life, health or safety (whether or not the threat is imminent)’ of a genetic relative. The NHMRC – through its principal committees, AHEC and the HGAC – is currently in the process of finalising these guidelines, with an exposure draft for public consultation released in late 2007, and a second round of consultations (as required by law) completed in mid-2008. Approval and release of the final version of the guidelines – which have the force of law, as a legislative instrument made under the Privacy Act – is expected later in 2008. Rights of access to the genetic information of first-degree genetic relatives Consistently with this position, the Inquiry recommended that genetic relatives should have limited right of access on their own initiative (REC 21–23). This right should be exercisable only in relation to familial genetic information about the siblings, parents or children of the individual (first-degree genetic relatives). Access should be provided by making the information available to the requester’s nominated medical practitioner or genetic counsellor, who can explain the clinical relevance of the information obtained for the individual. Where an organisation (such as a genetic register or tissue bank) receives a request for access to genetic information about an individual’s genetic relatives, it should be obliged to seek consent, where practicable, before determining whether to provide access. Access should be refused where the provision of such genetic information would have an unreasonable impact upon the privacy of the individual. To assist with implementation of this recommendation, the Inquiry recommended that the NHMRC should develop guidelines for health professionals in dealing with such requests (REC 21–24). 338
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The government response rejected the recommendation that an individual should have a right to access bodily samples of his or her first-degree genetic relatives. The Government stated that: First-degree genetic relatives, who suspect that a relative’s genetic sample contains important genetic information that could lessen or prevent a serious threat to his or her life, health, or safety, could easily access that genetic information by undertaking a genetic test themselves. This assumes that the person understands the basic nature of the genetic risk that they face. In the absence of such knowledge, access to their relative’s sample, as distinct from the relevant genetic information contained in that sample, would provide little advantage. With respect – and whatever one thinks about the policy or principle – this is inaccurate from a clinical and scientific point of view. The whole rationale behind familial genetic registers, tissue banks and human genetic research databases is that it is in fact extremely important to track genetic disease markers across families, communities and populations. In recent years, major ‘biobanking’22 initiatives have been undertaken in the United Kingdom (UK Biobank), Japan, Estonia, Iceland, Taiwan, China, Canada and the United States. The new HGAC is pursuing this matter further with the Government, to ensure that Australian policy is built upon sound medicine and science, as well as on sound ethical, legal and social principles. Deceased individuals The Privacy Act currently does not cover genetic information about deceased persons. This may be contrasted with the position under Victorian and New South Wales health privacy laws and with the Australian Health Minister’s Advisory Council (AHMAC) Draft National Health Privacy Code, all of which extend to personal information about individuals who have been dead for not more than 30 years. The Inquiry considered it desirable to amend the Privacy Act to cover genetic information about deceased individuals because of the implications that the collection, use or disclosure of this information may have for living genetic relatives, and adopted the 30-year period to ensure consistency with the position in Victoria and New South Wales (REC 7–6, and see paras 7.84–87.91). Exemptions for small businesses and employee records Australia is unusual in exempting employee records from the operation of the Privacy Act – and this is certainly not the case with respect to the applicable privacy law in Europe or comparable common law countries, such as Canada, New Zealand and Hong Kong. Similarly, Australian privacy law is unusual in exempting most small businesses – defined as those with an annual turnover of less than A$ 3 million per annum – except those (inter alia) providing a ‘health service’ and holding health information. However, a small business that is not a health service provider but nevertheless holds health information remains exempt – such as where a business stores genetic samples or acts as a genetic data repository, but does not itself provide a health service (Smyth 2002: 64, 66). Concerned that this loophole poses a potential risk to the privacy of both the individual concerned and his or her genetic relatives, Essentially Yours recommended that all small business operators that hold genetic information should be subject to the provisions of the Privacy Act, whether or not they provide a health service.23 339
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While there is no contemporary evidence that Australian employers are ordering genetic tests or seeking access to genetic test information, there is little doubt that the pressures to use such information will intensify as the reliability and availability of genetic tests increases, and as the cost of testing decreases in the coming years. There are some obvious incentives for employers to utilise genetic information when it becomes more cost-effective as an aid in reducing workers’ compensation and other insurance costs, minimising sick leave, and engaging in occupational health and safety and civil liability risk management strategies. A number of cases have been reported internationally (although fewer in Australia) in which employers have demanded genetic information or genetic testing, or surreptitiously have obtained such information.24 A number of submissions expressed serious concern about the lack of privacy protection currently provided for sensitive information – particularly genetic information – held by private employers (ALRC 96, Ch. 34). It is notable that the Australian Chamber of Commerce and Industry (ACCI), which has in the past strongly supported the existing employee records exemption, acknowledged in its own submission that there is room for special provision to be made in respect of sensitive genetic information held by employers. These exemptions were part of a pragmatic government response to indications that Australian business, and in particular, small business, would object to the extension of the Privacy Act to the private sector in 2000 on the basis that this would impose heavy compliance costs. Ironically, one of the main drivers of the extension of the Privacy Act to the private sector in 2000 was securing ‘adequacy’ status with European law, in order to facilitate trade with the EU.25 The EU Directive restricts the export of personal data from an EU member state to a recipient country that does not have an ‘adequate level of protection’.26 However, the small business and employee records exemptions have proven to be major obstacles in achieving adequacy. In March 2001, the Article 29 Data Protection Working Party of the European Commission released an opinion expressing concern about the sectors and activities excluded from the protection of the Privacy Act, with the small business and employee records exemptions noted as particular areas of concern.27 Accordingly, Australian businesses seeking trade with EU organisations must put in place contractual clauses specifically ensuring the adequate protection of personal data transferred from the EU.28 As a matter of practice, this does not appear to have unduly disadvantaged or inconvenienced Australian businesses, since the relevant clauses soon become standard. However, these exemptions do place Australian law outside the prevailing norm. The Australian Government response to Essentially Yours stated that the existing law ‘is sufficient to protect the privacy of genetic information that may be held by small businesses while at the same time ensuring that small businesses are not unfairly burdened by the costs and processes of complying with the privacy legislation’. However, the Government did indicate that it would consider these matters again as part of ALRC’s current general review of privacy laws.
Recommended changes to related laws A central concern of the Inquiry was to place a very high premium on the dignity of the individual. Apart from the recommended reforms to be made directly to privacy laws and practices, it also was emphasised that parallel changes had to be effected in related areas. 340
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Criminal law The Inquiry expressed serious concern about the potential for non-consensual collection and analysis of DNA samples – for example, by private investigators; employers; insurers; government agencies (except as authorised by statute, such as police officers conducting forensic procedures); journalists; or a parent with a doubt about the paternity of a child. Given the ubiquity of genetic samples (in blood, saliva, semen, tissue, hair, and so on), the rapid advances in the science and technology, and the growing availability (including over the internet) and decreasing costs for DNA analysis, there is greatly increased potential for activities which threaten the legitimate privacy interests of individuals. The ALRC expressed appropriate caution about suggesting the use of criminal sanctions in regulating a field of activity where civil penalties or administrative remedies – or ethics or education – may be enough to secure routine compliance. However, the Inquiry was sufficiently alarmed about the privacy implications of the widespread nonconsensual collection, testing and analysis of DNA to propose that bold step. Accordingly, the Inquiry recommended in Essentially Yours that the protection of the integrity of the individual warrants the creation of a new criminal offence, to prohibit an individual or a corporation from submitting another person’s sample for genetic testing, or conducting such testing, knowing (or recklessly indifferent to the fact) that this is done without the consent of the person concerned or without other lawful authority – such as a court order, statutory authority or ethics committee approval.29 Such an offence is now also found in s. 45 of the UK Human Tissue Act 2004 (c 30),30 following similar recommendations by the UK Human Genetics Commission (Human Genome Commission 2002: 60). The Australian Government supported this recommendation, and has referred it to the Standing Committee of Attorneys-General for the development of a model criminal offence. In mid-2008, an exposure draft of the proposed law was given limited circulation, and it is expected that a revised version will be released for broader consultation later in 2008. Employment and discrimination law Much of the community concern about genetic privacy relates to the potential for individuals to be discriminated against on the basis of their (real or perceived) genetic status, especially in relation to employment. The UNESCO Universal Declaration on the Human Genome and Human Rights 1997 recognises that research on the human genome and the resulting applications open up vast prospects for progress in improving the health of individuals and of humankind as a whole, but … that such research should fully respect human dignity, freedom and human rights, as well as the prohibition of all forms of discrimination based on genetic characteristics.31 While the Declaration is not a binding legal instrument, it is evidence of growing international concern and an indication of the general approach of the international community in this area. Article 2 states that: 341
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Everyone has a right to respect for their dignity and for their rights regardless of their genetic characteristics. That dignity makes it imperative not to reduce individuals to their genetic characteristics and to respect their uniqueness and diversity. Article 6 goes on to declare that: No one shall be subjected to discrimination based on genetic characteristics that is intended to infringe or has the effect of infringing human rights, fundamental freedoms and human dignity. The Council of Europe’s Convention on Human Rights and Biomedicine – which is a legally binding instrument and has been signed and ratified by 15 countries to date – gives a clear indication of the approach adopted in Europe in relation to this issue. Article 11 states that: Any form of discrimination against a person on grounds of his or her genetic heritage is prohibited.32 In Australia, the Disability Discrimination Act 1992 (Cth) (DDA), prohibits disability discrimination in employment, education, access to premises used by the public, provision of goods, services and facilities, accommodation, buying land, activities of clubs and associations, sport and the administration of federal government laws and programmes.33 A product of its time, the DDA was designed to apply to unlawful discrimination based on a person’s physical disability, mental illness, intellectual disability or HIV/AIDS positive status (‘the presence in the body of organisms capable of causing disease or illness’) – but there is no express reference to genetic status (DDA 92 [Cth], s. 4[1]). There is general agreement among experts in this field of law that the existing definition of disability covers genetic conditions that are manifested by current symptoms, such as a partial loss of the person’s bodily or mental functions. The more difficult question is whether existing anti-discrimination legislation is wide enough to encompass discrimination on the basis of genetic status where a person is presently asymptomatic. The Inquiry recommended – and the Government accepted – that the DDA and related laws and regulations34 should be clarified to make certain that they expressly apply to discrimination based on real or perceived genetic status (ALRC 96; REC 9–3). Again, consistent with its general approach in rejecting genetic exceptionalism, the Inquiry rejected suggestions (ALRC REC para 9.50.) and precedents from some other jurisdictions (ALRC REC para 9.51) calling for a new, dedicated, Genetic Discrimination Act. As with privacy laws, the Inquiry concluded that it would make for better policy and practice to deal with the issues within the existing regulatory framework – but with recommendations for amendments to anti-discrimination laws as well as other safeguards (ALRC REC para 9.55). Fearing the creation of a ‘genetic underclass’, the Inquiry took a strongly interventionist approach to the potential use of predictive genetic information by employers. The Essentially Yours report recommended that, as a general rule, employers should not be permitted to gather and use predictive genetic information except in rare circumstances – for example, where this is necessary to protect the health and safety of workers or third parties, and the action complies with stringent standards developed by the HGAC and occupational health and safety authorities (ALRC 96, REC 31–1 to 31–34). 342
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Importantly, the Australian Government supported this approach, noting that: The Government sees merit in preventing discrimination on the basis of a person’s potential future inability to perform the inherent requirements of the position, noting that genetic results are not capable of predicting this accurately and that future events are uncertain.
Family law During the course of the Inquiry there was significant – and sometime heated – debate about the regulation of DNA paternity testing. It appears that a significant level of nonconsensual DNA paternity testing already exists in Australia, conducted outside the auspices of the Family Court, and often by laboratories that are not formally accredited for this purpose (ALRC 96 Ch 35). A number of individuals and ‘fathers’ groups’ argued that it should be permissible to collect a DNA sample from a child and conduct ‘peace of mind’ testing, without the knowledge and consent of the child or the other parent. Since accredited testing laboratories require that samples be obtained lawfully – that is, by consent or pursuant to a court order – it was also argued that the results of a DNA paternity test conducted by an unaccredited lab (such as those advertising on the internet) nevertheless should be recognised at law. Consistent with its general emphasis on informed consent, and on protecting the dignity and privacy of the person, the Inquiry took a strong position against such nonconsensual testing of children. It was recommended that DNA parentage testing should be conducted only with the consent of each person sampled, or pursuant to a court order. In the case of a child who is unable to make an informed decision, testing should go ahead only with the consent of both parents, or pursuant to a court order.35 The Government accepted the spirit of these recommendations, but considered that no legislative changes needed to be made to the regulation of parentage testing for the time being, since there is already a strong accreditation system in place where test results are to be used in family law or immigration proceedings. The Government will, however, continue to monitor the use of non-accredited laboratories that are offering parentage testing … The Government does not consider that there is any need for further legislation at the federal level as the existing legislative requirements require parentage testing procedures to be done at a laboratory that is accredited by NATA [the National Association of Testing Authorities]. The combined effect of section 69ZB of the Family Law Act, the regulation making power for parentage testing, and Regulation 21D of the Family Law Regulations 1984, is that parenting testing procedures under family law must be carried out at a laboratory that is accredited by NATA. As noted above, however, the Government did accept the more general recommendation that the act of submitting another person’s DNA for testing without consent or other lawful authority should become a criminal offence. 343
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Conclusion The Australian experience confirms the overseas literature about the community’s mixed reactions to the rapid advances in genetic science and technology (See, e.g., ALRC 96, paras 4.12–14.17). There is certainly enormous optimism about the potential for genetic research to produce important medical breakthroughs in the diagnosis, treatment and prevention of terribly debilitating diseases, as well as leading to the development of whole new fields of medicine, such as gene therapy, regenerative medicine and pharmacogenomics. Although it may give pause to some civil libertarians, it also was evident that there is strong support in the general community for the collection and use of DNA by law enforcement authorities. At the same time, there is a palpable anxiety about some of these developments, prompted by the rapid pace of change, and aggregating a range of concerns from the dark shadow of eugenics to the loss of privacy and resulting discrimination. Australians do not appear to have lost faith in the capacity (or willingness) of government to regulate biotechnology effectively in the public interest. In part, this is as a result of good management, but no doubt it is also the result of good fortune, insofar as Australia has not suffered the sort of public health crises or major scandals that sap public confidence – as has happened in Europe and North America.36 This leaves open a precious window of opportunity for policymakers to lay down a sound policy platform in advance of problems emerging. Much of the public discourse employs the language of absolute rights. However, achieving justice in this complex area is not susceptible to a simple vindication of individual rights. Achieving the proper balance is difficult in practice, since various interests will compete, collide and clash across the spectrum of activity. Privacy protection represents a classic example of the need to balance competing rights and interests, with the fulcrum point shifting according to the context and particular circumstances. For example, the law regards a person’s home as his or her ‘castle’, and offers a high level of protection against intrusions – but the law also authorises searches and surveillance where there is a reasonable suspicion of serious criminal activity. In public places, the expectation of privacy is lower still. Striking the balance on genetic privacy may present even greater challenges. As discussed above, human genetic information is highly ‘personal’ and ‘sensitive’ – and ostensibly should attract the highest levels of protection. However, an individual’s genetic code also has a powerful familial dimension, with implications for parents, siblings, children and generations to come. (Or, it may reveal that the person is not actually biologically related to his or her social relatives – another sensitive matter that may or may not have been known or openly disclosed.) Thus, there may be circumstances in which an individual’s presumptive right to privacy, and to the confidentiality of the doctor–patient relationship, may be called into question by the competing needs of genetic relatives. As a consequence of the Essentially Yours report, Australia has begun to explore these issues, with some significant changes already made to privacy law and practice, employment and discrimination law, and even to doctor–patient relationships.
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Australian Law Reform Commission, Essentially Yours: The Protection of Human Genetic Information in Australia (2003).
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For Your Information: Australian Privacy Law and Practice (ALRC 108, 2008). Cancer Genetics Ethics Committee, Ethics and Familial Cancers (1997). Anti-Cancer Council of Victoria. DDA92 Disability Discrimination Act 1992. HGC 2002 Human Genetics Commission, Inside Information: Balancing Interests in the Use of Personal Genetic Data (2002), London, 60. IP 2001 Australian Law Reform Commission, The Protection of Human Genetic Information (Issues Paper 26, 2001). IP 2006 Australian Law Reform Commission, Review of Privacy (ALRC Issues Paper 31, 2006). NHMRC 98 Submission 39 to Senate Legal and Constitutional Legislation Committee Inquiry into the Provisions of the Genetic Privacy and Non-discrimination Bill, 26 May 1998. NHMRC 2007 National Health and Medical Research Council, National Statement on Ethical Conduct in Human Research (2007), paras 3.5.1–3.5.3. REC Recommendations of ALRC 96. ALRC 108 CGEC
Notes 1 Convention for the Protection of Human Rights and Fundamental Freedoms, 10 December 1948, Council of Europe, ETS No. 005 (entered into force generally on 3 September 1953). 2 As defined in Article 8(2). 3 International Covenant on Civil and Political Rights, 16 December 1966, ATS 23 (entered into force generally on 23 March 1976). 4 Privacy Act 1996 (British Columbia); Privacy Act (Manitoba); Privacy Act 1978 (Saskatchewan); and Privacy Act 1990 (Newfoundland and Labrador). 5 See, e.g., European Parliament, Directive on the Protection of Individuals with Regard to the Processing of Personal Data and on the Free Movement of Such Data, Directive 95/46/EC (1995). 6 The Australian Law Reform Commission also recently conducted a wide-ranging review of Australian privacy laws and practices – including a detailed treatment of issues relating to health and medical privacy and research, but not limited to the genetic context. The final report, For Your Information: Australian Privacy Law and Practice (ALRC 108, 2008), was tabled in Parliament and released publicly in August 2008 (ALRC 108). 7 ALRC 96, para. 3.42. See IP 26, paras 2.27–2.29, for a discussion of this Bill, authored by Senator Natasha Stott Despoja, and its consideration by a Senate committee. For the committee report, see Senate Legal and Constitutional Legislation Committee, Provisions of the Genetic Privacy and Nondiscrimination Bill 1998, Parliament of Australia; online: www.aph.gov.au/senate/committee/legcon_ctte/genetic/index.htm (21 August 2002), p. 1. 8 The United States also relies on a patchwork of state and federal laws, with the first comprehensive federal standards for health privacy established in 2001, when the US Department of Health and Human Services issued regulations under the Health Insurance Portability and Accountability Act 1996 (US): Standards for the Privacy of Individually Identifiable Health Information 45 CFR Part 164 1996. 9 Ibid.: 78. The Dutch Personal Data Protection Act 2000 does make specific reference to genetic privacy. 10 Available at: www.ag.gov.au/agd/WWW/agdhome.nsf/AllDocs/DFC5F37153385647CA2570CA0 076BC77?OpenDocument. 11 Australian Government, Department of Health and Ageing, ‘Leading Australia’s health into the future’, 10 May 2005, available at: www.health.gov.au/internet/budget/publishing.nsf/Content/ health-budget2005-hbudget-hfact6.htm 12 As discussed below, amendments made to the Privacy Act in 2006, following the recommendations of ALRC 96, have added a paragraph to the definition of ‘health information’ with specific reference to genetic information.
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13 It should be noted that this is not necessarily a feature of privacy laws in other jurisdictions, however, but rather a political judgment in Australia that the extension of federal privacy law to the private sector would go more smoothly if the compliance costs for small business were restrained. This feature of the Australian regime remains an obstacle to gaining recognition as satisfying the European Data Directive. 14 Pursuant to ss 95 and 95A of the Privacy Act. 15 L. Skene (1998) unpublished, appended to the Research Committee of the NHMRC, Submission 39 to Senate Legal and Constitutional Legislation Committee Inquiry into the Provisions of the Genetic Privacy and Non-discrimination Bill, 26 May 1998. 16 NPP 6 provides some limited circumstances in which health providers may withhold genetic and other health information, including where providing access would: pose a serious threat to the life or health of any individual; have an unreasonable impact upon the privacy of other individuals; or be unlawful or prejudice various law enforcement interests. 17 National Health and Medical Research Council, National Statement on Ethical Conduct in Human Research (2007), paras 3.5.1–3.5.3. The 2007 National Statement superseded the original 1999 version, and incorporated recommendations and suggestions made in ALRC 96. 18 FAP refers to ‘familial adenomatous polyposis’, a form of heritable colorectal cancer. 19 The harmonisation of information privacy laws and practices was a central concern of the subsequent ALRC review of Australian privacy law and practice, which went well beyond health and medical matters: see Australian Law Reform Commission, For Your Information: Australian Privacy Law and Practice (ALRC 2008). 20 The polymerase chain reaction method, which greatly amplifies DNA to enable analysis. 21 See Australian Law Reform Commission, Review of Privacy (ALRC Issues Paper 31, 2006), Ch. 8 on health services and research. 22 Also known as ‘human genetic research databases’, or HGRDs. 23 ALRC 96, Recommendation 7–7, and see paras 7.99–7.104. The Office of the Federal Privacy Commissioner supported the removal of the exemption for small businesses holding health information, but was concerned that limiting the reform to ‘genetic information’ would introduce ‘unnecessary complexity into the regulatory framework applying to small businesses’. The Inquiry was limited in the breadth of its recommendation by the Terms of Reference. However, if the definition of ‘health information’ was amended specifically to include genetic information (as outlined above), this would achieve the underlying aims of the recommendation. 24 See ALRC 96, Part H: Employment, especially Chapters 29–30. 25 Revised Explanatory Memorandum, Privacy Amendment (Private Sector) Bill 2000 (Cth), 16. 26 European Parliament, Directive on the Protection of Individuals with Regard to the Processing of Personal Data and on the Free Movement of Such Data, Directive 95/46/EC (1995), Articles 25, 26. 27 European Union Article 29 Data Protection Working Party, Opinion 3/2001 on the Level of Protection of the Australian Privacy Amendment (Private Sector) Act 2000, 5095/00/EN WP40 Final (2001), 3. 28 Ibid., Article 26(2). 29 Ibid., Recommendation 12–1; and see generally the discussion in Ch. 12. 30 The offence provisions came into effect on 1 September 2006. 31 Universal Declaration on the Human Genome and Human Rights, UNESCO; online: www.unesco.org/ ibc/en/genome/projet/ 32 Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine (opened for signature 4 April 1997, ETS No 164; entered into force on 1 December 1999). 33 Discrimination on the ground of genetic status may, potentially, arise in many of these contexts. However, consistently with the emphasis in the Inquiry’s Terms of Reference, and with the level of concern expressed in submissions, Essentially Yours focused mainly on discrimination in employment and insurance. 34 Such as the Human Rights and Equal Opportunity Commission Act 1986 (Cth) and the Workplace Relations Act 1996 (Cth). The ALRC also made a parallel recommendation that the states and territories should consider harmonising their anti-discrimination legislation, and other relevant laws, in a manner consistent with the recommendations in the report: Recommendation 9–5. 35 ALRC 96, Ch. 35. In those cases in which agreement cannot be reached – for example, because a mature child or a person with parental responsibility withholds consent or is unavailable – a court may authorise testing, after taking the child’s interests into account. In order to ensure high ethical
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standards and technical competence, DNA parentage testing should be conducted only by accredited laboratories, operating in accordance with the specific accreditation standards in this area. Information about the availability of genetic counselling should be provided to the parties. 36 Only 45 per cent of Europeans agreed with the statement that their governments regulate biotechnology well enough, compared with 29 per cent who disagree, and 26 per cent who are not sure: Eurobarometer 52.1, The Europeans and Biotechnology; online: www.europa.eu.int/comm/ research/quality-of-life/eurobarometer.html, 19 February 2003.
References Annas, G., Glantz, L. and Roche, P. (1995) ‘Drafting the Genetic Privacy Act: science, policy and practical considerations’, Journal of Law, Medicine and Ethics, 23: 360–5. Australian Government, Department of Health and Ageing (2005) ‘Leading Australia’s health into the future’, 10 May 2005; online: www.health.gov.au/internet/budget/publishing.nsf/Content/health-b udget2005-hbudget-hfact6.htm ALRC (Australian Law Reform Commission) (2001) The Protection of Human Genetic Information (Issues Paper 26). Canberra: Australian Law Reform Commission. —— (2002) The Protection of Human Genetic Information (Discussion Paper 66). Canberra: Australian Law Reform Commission. —— (2003) Essentially Yours: The Protection of Human Genetic Information in Australia (ALRC 96). Canberra: Australian Law Reform Commission. —— (2006) Review of Privacy (ALRC Issues Paper 31). Canberra: Australian Law Reform Commission, esp. Ch. 8 on health services and research. —— (2008) For Your Information: Australian Privacy Law and Practice (ALRC 108). Canberra: Australian Law Reform Commission. Barlow-Stewart, K. and Keays, D. (2001) ‘Genetic discrimination in Australia’, Journal of Law and Medicine, 8, 3: 250–62. CGEC (Cancer Genetics Ethics Committee) (1997) Ethics and Familial Cancers. Melbourne: Anti-Cancer Council of Victoria. Council of Europe (1948) Convention for the Protection of Human Rights and Fundamental Freedoms, ETS No 005, 10 December (entered into force generally on 3 September 1953). Crosby, D. (2000) Protection of Genetic Information: An International Comparison. London: Human Genetics Commission. Disability Discrimination Act (1992) (Cth), s. 4(1). Eurobarometer 52, 1 (2003) The Europeans and Biotechnology; online: www.europa.eu.int/comm/ research/quality-of-life/eurobarometer.html (19 February). European Parliament, (1995) Directive on the Protection of Individuals with Regard to the Processing of Personal Data and on the Free Movement of Such Data, Directive 95/46/EC European Union Article 29 Data Protection Working Party (2001) Opinion on the Level of Protection of the Australian Privacy Amendment (Private Sector) Act 2000, 5095/00/EN WP40 Final, 3. Health Insurance Portability and Accountability Act (US) (1996) Standards for the Privacy of Individually Identifiable Health Information 45 CFR Part 164 1996. International Covenant on Civil and Political Rights (1966) 16 December, ATS 23 (entered into force generally on 23 March 1976). Human Genetics Commission (2002) Inside Information: Balancing Interests in the Use of Personal Genetic Data, London: Human Genetics Commission. Human Rights and Equal Opportunity Commission Act (1986) (Cth). National Health and Medical Research Council (NHMRC) (1998) Submission 39 to Senate Legal and Constitutional Legislation Committee Inquiry into the Provisions of the Genetic Privacy and Non-discrimination Bill, 26 May. —— (2007) National Statement on Ethical Conduct in Human Research, paras 3.5.1–3.5.3.
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Skene, L. (1998) ‘Patients’ Rights or Family Responsibilities? Two Approaches to Genetic Testing’, Medical Law Review, 6, 1: 1–41. Smyth, T. (2002) ‘Protecting human genetic information and its use’, Health Law Bulletin, 10, 6: 64, 66. Revised Explanatory Memorandum, Privacy Amendment (Private Sector) Bill 2000 (Cth), 16. Stott Despoja, Senator Natasha, Senate Legal and Constitutional Legislation Committee (1998) Provisions of the Genetic Privacy and Non-discrimination Bill 1998. Canberra: Parliament of Australia; online: www.aph.gov.au/senate/committee/legcon_ctte/genetic/index.htm (21 August 2002), p. 1. UNESCO (1997) Universal Declaration on the Human Genome and Human Rights. Paris: UNESCO; online: www.unesco.org/ibc/en/genome/projet/
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24 Bioethics and human genetic engineering John H. Evans and Cynthia E. Schairer
Human genetic engineering (HGE), the intentional transformation of genes in the body or the descendants of a person through chemical manipulation, has long been the most controversial of the various technologies that could be used to change the genetic constitution of humans. This is because, unlike other means of influencing the genetic characteristics of a person, the term ‘engineering’ has suggested a precision not found in other techniques. However, while its advocates and critics continue to predict that HGE will give humans unprecedented powers to self-design our species, attempts to actually engage in HGE have led to frustration. Yet research and ethical debate continue apace. The debate has come full circle in the past 50 or so years. In the reform eugenics debate of the 1950s many participants advocated seizing control of the genetic constitution of the human species. This brought much controversy to the issue, and by the early 1970s a number of conceptual distinctions were created with the effect of making some types of HGE a matter of ethical debate while making other types seem to be a part of medicine and thus no more controversial than any other medical research. Since then these concepts have been continuously modified to bring more and more instances of HGE under the aegis of ‘medicine’. Today, what is left to controversy is a very restricted set of genetic enhancements very similar to what was being advocated in the 1950s.
The eugenic beginnings of HGE1 The idea of improving the quality of the human species through breeding has ancient roots. It was probably the earliest humans who figured out that if you wanted tall children, you should reproduce with someone who is tall. Exactly how this worked would remain mysterious for centuries, and thus the very idea of subtle improvements in the human species remained beyond the imagination. However, by the late nineteenth century much scientific progress had occurred in the study of heredity. Darwin’s Origin of Species had been published in 1859, which contained a theory of how animals evolve from other animals. In 1883 British scientist Francis Galton – cousin of Darwin – coined the term ‘eugenics’, by which he meant ‘the “science” of improving human stock by giving “the more suitable races or strains of blood a better chance of prevailing speedily 349
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over the less suitable”’ (Kevles 1985: ix). It was thought that through proper breeding, the human species could be improved. Galton feared that the survival of the fittest was no longer functioning for humans because of the conveniences of modern society. ‘Such measures as the minimum wage, the eight-hour day, free medical advice, and reductions in infant mortality encouraged an increase in unemployables, degenerates, and physical and mental weaklings,’ he claimed (Kevles 1985: 33–4). Using this logic, he concluded, for example, that ‘charities for the children of the “incapables” were “a national curse and not a blessing”’ or, similarly, that access to schools should not be expanded because ‘no training or education can create [intelligence]’ (Kevles 1985: 33). What needed to happen, for Galton and his contemporaries, was to change the incentive structure in British society to encourage those with ‘good’ qualities to reproduce, and discourage those with ‘bad’ qualities from reproducing. This was all predicated on the idea that the ‘good’ and ‘bad’ qualities of persons were heritable. This is clear from Galton’s pioneering study where he drew a sample population of ‘distinguished jurists, statesmen, military commanders, scientists, poets, painters, and musicians’. He found that they tended to be related, from which he concluded that ‘families of reputation … were much more likely than ordinary families to produce offspring of ability’. The conclusion was then inescapable: ‘it would be “quite practicable to produce a highly gifted race of men by judicious marriages during several consecutive generations”’ (Kevles 1985: 3–4). Needless to say, in terms of the nature vs nurture debate, Galton and other eugenicists of the time fell heavily on the nature side. In British society, the distinction between ‘good’ and ‘bad’ perhaps unsurprisingly followed class lines. In the US, the distinction was often based on race or ethnic lines, given the greater racial and ethnic diversity of the US and the large number of immigrants coming to the US during this era. The immigrants were considered to be a great social problem, and progressive reformers tried to find ways to ameliorate the terrible condition of immigrant neighbourhoods. In the early twentieth century American scientists set up large research projects to examine how negative social traits often associated with immigrants were passed down through family trees, and thus, through eugenic breeding, social problems could be ameliorated. For example, eugenicist Charles Davenport concluded that what we would now call genetic diseases were heritable, but so were ‘insanity, epilepsy, alcoholism, “pauperism”, criminality, and … “feeblemindedness”’ (Kevles 1985: 46). Since families tended to be from the same ethnic group, he concluded that ‘race determined behavior’, concluding that the Poles were ‘“independent and self-reliant though clannish”; the Italians tending to “crimes of personal violence”; and the Hebrews “intermediate between the slovenly Servians and Greeks and the tidy Swedes, Germans, and Bohemians” and given to “thieving” though rarely to “personal violence”’ (Kevles 1985: 46–7). Eugenics was a popular progressive reform during this era. For example, clergy gave sermons on the importance of good human breeding and the American Eugenics Society gave a ‘fitter family medal’ to those who had bred properly (Rosen 2004). Theodore Roosevelt said that ‘Someday we will realize that the prime duty, the inescapable duty, of the good citizen of the right type is to leave his or her blood behind him in the world’ (Kevles 1985: 85). Given the connection they saw between immigration and bad heritable traits, it is no surprise that the eugenicists turned towards trying to restrict immigration from what they saw as places that produced problematic people. In 1924 the eugenicists had their largest success with an immigration control act that limited the immigration of people from eastern and southern Europe, the places thought to be the source of ‘bad’ genes. 350
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However, a growing number of critics began to observe that the conclusions of the eugenicists were essentially hidden race and class prejudice. For example, in 1935 American scientist Hermann Muller wrote that eugenics had become ‘“hopelessly perverted” into a pseudoscientific facade for “advocates of race and class prejudice, defenders of vested interests of church and state, Fascists, Hitlerites, and reactionaries generally”’ (Kevles 1985: 164). The adoption of eugenic policies by the Nazis – and their even more horrible expansion into eugenically motivated genocide of ‘inferior’ ethnic groups like Jews and Gypsies – brought further discredit to the idea of ‘improving’ the genes of a nation. The idea that ‘good’ and ‘bad’ genetic qualities cluster in ‘races’ – what Kevles calls ‘mainline eugenics’ – was discredited. The reform eugenicists One might think that the exposure of what the Nazis had done would mean the end of eugenic thought. However, while unlinking the idea of ‘good’ and ‘bad’ qualities from races, many scientists still believed, in the words of Julian Huxley, in ‘the inherent diversity and inequality of man’ (Kevles 1985: 173). The new idea was to focus on encouraging the ‘good’ individuals to reproduce, not ‘good’ races. Standard eugenic concerns remained. For example, in the late 1940s Hermann Muller was still concerned that medical science had made it possible for people with diseases like diabetes to reproduce, thus producing more of this bad gene in the overall population (Evans 2002: 50). While reform eugenicists wanted to improve the species – or more precisely, prevent the deterioration of the species as the ‘load’ of genetic errors multiplied in the population – they also had other goals. For example, they wanted human beings to seize control of our evolution and design the future of humanity to give our species a sense of purpose that they felt had been lost when Darwinism fatally wounded religion (Evans 2002: 50–3). This started the debate that would quickly form the basis for the modern HGE debate as some theologians saw the goals of these eugenicists as impinging on their traditional territory and producing a sort of scientific theology. Theologians and others pointed out that scientists were trying to impose their goals on the species. The public started paying attention and controversy grew. The technology that debaters during the reform eugenic era had in mind was still variations on trying to get the people with ‘good’ genes to make more babies and the people with ‘bad’ genes to make fewer babies. For example, Muller had a scheme in mind where married women would willingly be artificially inseminated with the sperm of the ‘best’ men (not their husbands). However, the technological possibilities had begun to change. By 1953 Crick and Watson had published their paper suggesting the actual chemical basis of heredity. By the late 1950s, people in the debate about eugenics had come to realise that if genes were ultimately chemicals, then perhaps the genes of people could be changed chemically, without resorting to trying to influence people’s mating decisions. Moreover, with mating you are limited to the genes the two people already have, but with genes identified as chemicals people could imagine inventing new genetic traits. Scientist Robert Sinsheimer wrote at the time that the new technologies allowed for ‘a new eugenics’. He wrote that the old eugenics would have required a continual selection for breeding of the fit, and a culling of the unfit. The new eugenics would permit in principle the conversion 351
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of all of the unfit to the highest genetic level … for we should have the potential to create new genes and new qualities yet undreamed’ in the human species. (Sinsheimer 1969: 13)
The birth of the somatic/germline and disease/enhancement distinctions By the 1960s the debate among elite scientists over whether and how we should influence the genes of humanity had reached the broader public. While it is commonly thought that the ethics of biotechnology is driven by technological developments, the first major distinction between types of HGE was driven by the scientists trying to quell a building controversy that they saw as threatening their ability to do their research. An early proponent of this first conceptual distinction was scientist Bernard Davis, who noted that discussions about HGE ‘have tended toward exuberant, Promethean predications of unlimited control and have led the public to expect the blueprinting of human personalities’ and have ‘caused wide public concern’. ‘Exaggeration of the dangers from genetics will inevitably contribute to an already distorted public view, which increasingly blames science for our problems and ignores its contributions to our welfare,’ he wrote. ‘Indeed, irresponsible hyperbole on the genetic issue has already influenced the funding of research. It therefore seems important to try to assess objectively the prospects for modifying the pattern of genes of a human being by various means,’ he continued (Davis 1970: 1279). To quell the building controversy, scientists pulled back from their more extravagant claims and settled in on what society was more likely to think of as the role of medical research scientists: healing diseases in the bodies of patients and not creating new qualities in the species. Thus was born the idea of somatic ‘gene therapy’. This was an extreme retreat of ethical territory that is being slowly regained to this day. Davis first made a distinction that will become less important in an ethical sense as the debate proceeds, between single-gene (monogenic) disorders and multi-gene (polygenic) traits. He simply points out that it would be difficult enough to change the monogenic trait for a genetic disease like haemophilia, let alone an almost entirely mysterious polygenic trait like ‘intelligence.’ Since the known monogenic traits are diseases, and the polygenic traits that were creating public controversy were traits like intelligence and personality, this argument creates the disease/enhancement distinction. In addition, Davis and others in this era propose a distinction between what Davis calls ‘somatic cell alteration’ and ‘germ cell alteration’. Somatic cell alteration would modify the genes of an existing person, but not their reproductive cells, and therefore any changes would die with them. The basic idea here would be to deliver a functioning copy of a gene to where it is needed in a person with a disease – like their bone marrow – through splicing the new gene into a virus and letting the virus attack the cells. If one targeted bone marrow, for example, presumably one would not change the genes in the reproductive cells of the body. Germ cell alteration would change the sperm or egg of a person and thus change their offspring and all subsequent generations. Davis and others argued that scientists should only talk about treating ‘diseases’ in the body (the soma). This implicitly creates the distinctions in Figure 24.1, that remain the central distinctions (with critical modifications) to this day (Walters and Palmer 1997: xvii; Juengst 1997: 125). 352
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Table 24.1 Distinctions in cell alteration theraphy
Therapeutic Treatment of Disease Enhancement of capabilities
Somatic
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Somatic Therapy (Cell 1) Somatic Enhancement (Cell 3)
Germline Therapy (Cell 2) Germline Enhancement (Cell 4)
Somatic gene therapy Soon after the proposal of these distinctions, the ethical debate about somatic therapy (Cell 1) subsided. This is because somatic therapy had an institutionalised ethical argument already used by the medical research profession for other issues. This argument is summed up in what bioethicists call ‘principlism’: the four ethical principles that need to be taken into account for any decision in science and medicine (Beauchamp and Childress 2001). The four principles are: autonomy, beneficence, non-maleficence and justice. For example, the principle of autonomy meant that you could not experiment on somebody unless that person agreed to be experimented upon; beneficence and non-maleficence meant that the possibility of harming the person had to be less than the possibility of helping the person; and justice meant that you could not experiment on people if they were in a disadvantageous social position, such as being a prisoner, orphan or poor person. While there are other forms of argument in bioethical debate, principlism had become accepted as the ethical criteria in medical research in the US and built into government policy. Since scientists had successfully argued that somatic therapy was medical research, this is the ethics that would apply for attempting to heal genetic diseases in the bodies of patients. For example, reacting to a 1980 somatic gene therapy experiment that was conducted without the permission of the ethics board at the researcher’s university, one of the most prominent gene therapy researchers and the head of bioethics for NIH wrote that the fundamental ethical problem with the unauthorised experiment was that it should have been ‘determined in advance that the probable benefits outweigh the possible risks’ (Anderson and Fletcher 1980: 1293). That is, the problem was that beneficence and nonmaleficence had not been accounted for. These ethical principles were further institutionalised when the US government made them part of the regulations by which somatic gene therapy research would be funded. The first approved somatic gene therapy experiment took place in 1989 and the first approved attempt to cure a disease with gene therapy occurred in 1990 (Evans 2002: 141). The ethics of somatic gene therapy have remained unchanged from nearly 30 years ago, with this type of HGE now considered to be standard medical experimentation, and uncontroversial, given that the ethics are settled. Germline gene therapy By the mid-1980s, some scientists began thinking they might actually want to conduct germline gene therapy (Cell 2). Some scientists argued, like Theodore Friedmann, that it is ‘unwise and premature’ to take the position that germline therapy should not be performed because it is plagued by technical and ethical uncertainty. Rather, ‘the need for 353
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efficient disease control or the need to prevent damage early in development or in inaccessible cells may eventually justify germ line therapy’ (Friedmann 1989: 1280). Other participants in public debates began to argue that the ethical arguments used for somatic gene therapy should be applied to germline gene therapy, which would then also make this application acceptable. This would bring the activities residing in Cell 2 in Figure 24.1 under the aegis of unproblematic medical research. In 1985 gene therapy pioneer and frequent contributor to bioethical debate W. French Anderson published an article arguing for this expansion, concluding that the ‘critical ethical question’ for germline therapy was ‘should a treatment which produces an inherited change, and could therefore perpetuate in future generations any mistake or unanticipated problems resulting from gene therapy, ever be undertaken?’ (Anderson 1985: 285). That is, the ‘critical ethical question’ is whether it is safe, which limits the ethical debate to one of the ethical principles already used to debate somatic gene therapy. He did not make the distinction between somatic and germline enhancements (Cells 3 and 4), but rather between enhancements that were simple or complex.2 In the debate over HGE, once the arguments of the reform eugenicists were discredited, the deep structure of the debate was to define some use of HGE as beyond the pale, and then to argue for a more reasonable form of HGE. For Anderson, the beyond the pale category was implicitly germline enhancement (Cell 4), what he called ‘eugenic’ genetic engineering. This was the manipulation of ‘complex’ traits, but in his examples these were not diseases, but ‘personality, character, formation of body organs, fertility, intelligence, physical, mental, and emotional characteristics’ (Anderson 1985: 289). This is the category he was opposed to, concluding that ‘there should be no attempt to manipulate, for other than therapeutic reasons, the genetic framework (i.e. the genome) of human beings’ (Anderson 1985: 289–90). ‘Eugenic’, due to its association with the discredited eugenicists, serves as an ethical distancing device, but note that his use is a redefinition of the term, given that the eugenicists were not only promoting ‘enhancements’ like intelligence but were also promoting germline therapy (Cell 2) – eliminating diseases from the collective human genome – that Anderson also supported. Similarly, the then head of bioethics for the National Institutes of Health, John Fletcher, argued that ‘the most relevant moral distinction is between uses that may relieve real suffering and those that alter characteristics that have little or nothing to do with disease’ (Fletcher 1985: 303). Therefore, ‘the conclusion that germline gene therapy in humans should be banned is also based upon a faulty premise,’ which is that the somatic/germline distinction is the most relevant (Fletcher 1985: 304). Rather, the disease/enhancement line is what is important and, like Anderson, Fletcher calls ‘enhancement’ ‘eugenics’ – ‘biological measures employed to improve characteristics in persons who can be generally viewed as ‘normal’, or who fall within the range of functional abilities in a society’ (Fletcher 1985: 303). This ‘normal functioning’ criteria between disease and enhancement would be stable for many years, serving to distinguish between the acceptable and the unacceptable in the HGE debate. In sum, in distancing themselves from the claims of the eugenicists and those arguing against them, scientists and bioethicists had retreated all the way back to the relatively uncontroversial somatic therapy (Cell 1). Shortly thereafter they expanded back to germline therapy (Cell 2), claiming that this too should be as uncontroversial as the healing of other diseases. Somatic enhancement (Cell 3) remained a minor point of discussion, but germline enhancement (Cell 4) was created as the application of HGE that could be pronounced by consensus to be wrong, beyond the pale, that scientists should never consider doing. 354
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The instability of the disease/enhancement distinction Of course, putting so much weight on the disease/enhancement distinction invokes the large debate about how one would make such a distinction in the first place. People can intuitively place certain cases on the ends of the spectrum, but the spectrum remains. Avoiding cystic fibrosis is probably universally considered to be avoiding a disease, whereas making a child more intelligent is similarly universally considered to be an enhancement. But, what about a genetic trait for susceptibility to early onset Alzheimer’s disease? A person so afflicted would have a ‘normal’ first half of their life and then have diminished mental function. How about very low intelligence, commonly called mental retardation? How about making people genetically vaccinated against disease? We can see that the line would be very imprecise in application. As we can see from Fletcher’s quotation above, the ‘normal functioning’ of humans had been the original distinction. The President’s Council on Bioethics summarises the simple version of the distinction: ‘Therapy’, on this view as in common understanding, is the use of biotechnical power to treat individuals with known diseases, disabilities or impairments, in an attempt to restore them to a normal state of health and fitness. ‘Enhancement’, by contrast, is the directed use of biotechnical power to alter, by direct intervention, not disease processes but the ‘normal’ workings of the human body and psyche, to augment or improve their native capacities and performances (President’s Council on Bioethics 2003: 13) Of course, this all hinges on what ‘normal’ is, and that is where much ethical debate has occurred, with obvious implications for the HGE debate. For example, Baylis and Robert define enhancement as Any technology that directly alters the expression of genes that are already present in humans, or that involves the addition of genes that have not previously appeared within the human population (including plant, animal, or custom-designed genes), for the purpose of human physical, intellectual, psychological, or moral improvement. (Baylis and Robert 2004: 2–3) This means that if genes exist in any human, then that is ‘normal’. So, if Einstein had some particular combination of genes, then replicating this pattern in babies would not be enhancement. A much more truncated perspective is that of the Association of Reproductive Health Professionals – a group that has an interest in divorcing their practices from controversy – which defines enhancement as any change beyond what the two people reproducing could have produced: where ‘a couple would like to endow their child with genes that neither member of the couple possesses’.3 In this conception, if there are humans who have genes that make them less likely to have early onset Alzheimer’s disease, but you and your spouse do not have these genes, to engineer them into your offspring would be an ‘enhancement’. In more recent debates, the disease/enhancement distinction has been shifting, metaphorically lowering the horizontal line in Figure 24.1, thus making more uses of HGE acceptable and decreasing the number of unacceptable applications. This furthers the turn back towards what was acceptable to the reform eugenicists. 355
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The move has been made by detangling what should be from what currently is. The normal functioning concept assumes that we can look to nature to decide what is ethical. People in the HGE debate have begun to place the concept onto a human institution by looking to the medical profession to define what is and is not a disease. The impetus for this move has been the many critics who have noted that HGE applications such as making people genetically less susceptible to cancer is not a ‘species-typical function’, but has long been a goal of medicine (Walters and Palmer 1997: 109–11; Juengst 1997: 126; Parens 1998: 5). Therefore, the therapy/enhancement divide is coming to be redefined from ‘normal functioning’ to avoiding any condition that the medical profession defines as a disease. This would expand the permissible ‘therapeutic’ uses of HGE compared to the earlier distinction.
Technological contributions to ethical debates Technological developments do not entirely shape ethical debates, but developments have had an influence on the evolving HGE debate. While many hundreds of clinical trials to treat all sorts of bodily diseases have occurred using somatic gene therapy, the latest summary of the Human Genome Project Information office concludes that it has yet to prove to be an effective treatment for genetic disease.4 Numerous technical problems remain, such as the engineered genes or the delivery vector causing an immune response, the gene therapy not lasting for long in the body and, to date, only single-gene disorders being the candidates for this treatment. This failure is exemplified by the death of a healthy 18-yearold research subject in 1999 during a clinical trial for a disease called ornithine transcarboxylase deficiency. The death is believed to have been caused by an immune response to the viral vector that delivered the gene to the research subject’s body. Similarly, children treated in France seem to have developed a leukaemia-like condition from the somatic gene therapy treatment.5 Despite these failures research trials continue for many types of diseases. There is no real controversy over which ethical system to use when evaluating these trials. Technological developments in in vitro fertilisation (IVF) – somewhat unrelated to HGE – have made the ethics of germline therapy (Cell 2 in Figure 24.1) somewhat irrelevant as these technological developments are seen as greatly diminishing the potential demand for this type of HGE. In IVF, a number of eggs would be removed from a woman’s ovaries. These eggs are mixed with sperm in a petri dish (in vitro = in glass) where one or more eggs is fertilised and becomes an embryo. One or more embryos are placed into the woman’s uterus and pregnancy hopefully occurs. The new modification of IVF is a technology called pre-implantation genetic diagnosis (PGD). With PGD each of the embryos created through IVF is allowed to grow to eight cells, and then one of the cells is removed from each and tested for genetic traits. The embryos that have an undesirable genetic trait are discarded and the ones with desirable traits are implanted in the woman. This eliminates the primary purpose of germline gene therapy for single-gene recessive traits like cystic fibrosis or sickle cell anaemia.6 The reason is as follows. There are two copies of every gene in every cell, with one copy from the father and one from the mother. With a recessive disease, you would only have the disease expressed if both copies had the genetic error. If only one has the error, you don’t have the disease, but you are a carrier. Therefore, on average, 25 per cent of the embryos produced by two carriers will have the disease, 50 per cent will be carriers and 25 per cent will not even be carriers. So, if both parents are carriers for cystic fibrosis, it would be easier to simply engage in PGD than in HGE – and the same result would occur, a 356
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child without the disease who would not pass disease on to their children (Resnik and Langer 2001: 1455; Genetics and Public Policy Center 2005: 25). This is not perfect, and there are scenarios with some diseases for which PGD would not work – such as when two people afflicted with cystic fibrosis would try to have children – but it is thought that it would be rare that two people like this would survive to reproductive age, and so want to reproduce (Genetics and Public Policy Center 2005: 25). The technology to conduct somatic enhancements (Cell 3) remains very underdeveloped. That is, first and foremost, because scientists have not even been able to get somatic therapy on single-gene disorders to work effectively, and it is thought to not be justified to take the same risks on enhancements. Second, while most of the earliest targets for somatic cell therapy have been single-gene disorders, most imagined ‘enhancements’ involve multiple genes that interact not only among themselves, but with the environment (Walters and Palmer 1997: 100; President’s Council on Bioethics 2003: 38). Despite the completion of the human genome project and other research, it still remains quite unclear how most somatic enhancements would function. Finally, it is likely that many of the aspirations behind enhancement HGE such as greater attention spans and intelligence can be more readily achieved through neuropharmacology than through HGE (Fukuyama 2002: 52). Conducting germline enhancement HGE (Cell 4) also faces the challenge of a lack of understanding of the traits that people would like to enhance, which are thought to be the result of combinations of genes. We are not much closer to being able to even say what ‘intelligence’ is than we were a few decades ago, let alone to be able to claim that certain genes cause one to have more of it. However, while we lack the knowledge of gene function, progress has been made on the technology that would be used to conduct germline HGE. According to one report, ‘recent advances have brought us significantly closer to the possibility of germline genetic modification in humans’ (Genetics and Public Policy Center 2005: 16). Scientists have recently replaced a mutated gene with a normal copy of the gene in human embryonic stem cells. Genetically modified sperm have been used to create genetically modified mice. If these are further developed for humans they ‘effectively will catapult us over what were identified heretofore as the principle technical obstacles to [germline HGE]’ (Genetics and Public Policy Center 2005: 16). In May of 2008 scientists passed another hurdle with the creation of the first genetically engineered human embryo.7 Despite these improvements in germline technologies, enhancement germline HGE is still far in the future.
The new reform eugenics In the debate of the post-eugenics era, only a handful of voices advocated for the ethical legitimacy of germline enhancements (Cell 4), but in the contemporary debate there are numerous and diverse voices arguing that people should be allowed to engage in germline enhancement if they so desire. As there have been all along, there is also another group of authors who argue against the legitimacy of germline enhancement. Procreative liberty allowing enhancements A central feature of the debate over the legitimacy of germline enhancement (Cell 4) is the continued increase in the number of people claiming that people should have 357
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autonomy in making decisions about ‘reproduction’. In Evans’ historical narrative, towards the end of the era he examines (the very early 1990s), autonomy had started to become the most important end to pursue in debates about HGE. Promoting an ethic of autonomy fit the needs of the bureaucratic state which did not want to be seen as promoting a particular ethical position, but wanted to let the citizens make autonomous ethical decisions. The development of reproductive medicine more generally, with its ethos of patient autonomy within broad limits, as well as the pro-choice movement in the abortion debate, also had created a situation where HGE was coming to be thought of as a free, autonomous choice, much like the decision to have an abortion. Autonomy was becoming the ‘pre-eminent end’, the default position, that was assumed to be in force unless a legitimate argument for its limitation could be made (Evans 2002: 158). In other words, reproduction was becoming like every other action in a society built upon political liberalism where freedom reigned unless it interfered with others. This is the ‘your freedom ends at the tip of my nose’ principle, for which proponent of procreative liberty John Robertson more academically quotes John Stuart Mill as writing ‘the only purpose for which power can be rightfully exercised over any member of a civilized community, against his will, is to prevent harm to others’ (Robertson 2003: 445). As Robertson summarises it, procreative liberty is not absolute, but rather ‘there is a strong presumption in its favor, with the burden on opponents to show that there is a good case for limiting it,’ primarily that it harms others (Robertson 2003: 448). Again, this is akin to the jurisprudence surrounding abortion in the US. The privileging of autonomy and the weakness of the only allowed challenger (harm to others) is in evidence by Robertson’s more recent arguments about the risk of ‘harm’ in reproductive procedures. Potential harm to offspring through HGE is compared to a baby not being born at all. Since not being born at all is worse than being born harmed,8 harm is not an argument against reproduction if that is the only way the couple will reproduce. So, for the first research applications of germline therapeutic HGE (Cell 2 in Figure 24.1), despite ‘a risk of adverse effects’ in the offspring, one could argue that the research is for the benefit of the resulting child by enabling it to be born at all. If the parents are committed to rearing the child and have the means to do so, they would be attempting to have a healthy child of their own to rear. As long as there was a reasonable basis for thinking that the child would be born healthy, and they were willing to rear and love any child that resulted, they would be exercising procreative choice and should not be banned from doing so. (Robertson 2004: 34–5) Robertson is unsure about germline enhancement (Cell 4), writing that ‘neither law nor ethics have yet resolved whether the internal logic of procreative liberty entails a strong right to select traits of offspring, including the right to enhance or diminish traits’. By Robertson’s reasoning, the couple would have to claim that they otherwise would not have had a child unless they could produce an enhanced one (Robertson 2004: 35; Robertson 2003: 474). But, if they could demonstrate this, and that the risk of harm was acceptable (given the definition of harm as compared to non-existence), then they could enhance their children. So, while no action in a liberal society is entirely free, HGE is becoming more free as the possible instances where restrictions on autonomous choice are limited. Robertson, 358
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for example, limits restrictions of autonomy to instances of cloning where the couple is fertile (but not necessarily if they are infertile) and the ‘intentional diminishment of offspring characteristics’ (Robertson 2003: 448). He writes, for example, that in the case of parents engineering a child to have perfect pitch, a person taking his intellectual position ‘would find a plausible case, and perhaps even a right of procreative liberty, to make such a selection’ (Robertson 2003: 466). Similarly, if a couple claimed they needed to control the sexual orientation of their offspring in order to reproduce, then this would also fall under the logic of procreative liberty (Robertson 2003: 467). Robertson – arguably the father of the concept of reproductive liberty – now is concerned that others in the debate have moved beyond what he considers to be the standard autonomy argument in liberal democratic societies, to advocating pure libertarianism. He calls this the ‘radical liberty’ perspective, that ‘no limits can appropriately be placed on what they do before the birth of a child’, allowing people to ‘select, screen, alter, engineer, or clone offspring as they choose’ (Robertson 2003: 444). He writes that this position ‘hovers in the background and casts a shadow over many official, scholarly, and popular accounts of reproductive issues’, even though most advocates of autonomy endorse some limits on freedom, such as not being able to intentionally hurt your offspring (Robertson 2003: 445). Julian Savulescu, in an influential paper much commented upon by others, seems to making the sort of argument that Robertson thinks is too extreme. On the one hand he argues on behalf of a principle he calls ‘procreative beneficence’ where parents are morally required to select embryos or foetuses that are ‘most likely to have the best life’ be it because they are free of genes that cause disease or because they are enhanced (Savulescu 2001). That is, germline enhancement is a moral duty. On the other hand he argues that while he is advocating a particular moral stance, in liberal democracies ‘we should allow couples to make their own decisions about which child to have’, which includes being ‘allowed to select a child with disability, if they have a good reason’ (Savulescu 2001: 425). Transhumanists There is another intellectual movement that is even more strongly in what Robertson calls the radical liberty camp – the transhumanists. In 1971 Joseph Fletcher, one of the influential participants in the HGE debate of that era before the separation of types of HGE described in Figure 24.1, wrote about what we could do through ‘genetic control’. He wrote that: If the greatest good of the greatest number (i.e. the social good) were served by it, it would be justifiable not only to specialize the capacities of people by cloning or by constructive genetic engineering, but also to bio-engineer or bio-design parahumans or ‘modified men’ – as chimeras (part animal) or cyborg-androids (part prosthetes). I would vote for cloning top-grade soldiers and scientists, or for supplying them through other genetic means, if they were needed to offset an elitist or tyrannical power plot by other cloners – a truly science-fiction situation, but imaginable. I suspect I would favor making and using man-machine hybrids rather than genetically designed people for dull, unrewarding or dangerous roles needed nonetheless for the community’s welfare – perhaps the testing of suspected pollution areas or the investigation of threatening volcanoes or snow-slides. (Fletcher 1971: 778–9) 359
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Advocacy of para-humans and the like was eliminated from mainstream debate shortly after this time period. It was the sort of talk that in the minds of scientists was scaring the public away from the HGE that scientists actually wanted to do in the near future. The best evidence that the HGE debate has turned full circle is that there is now a group of people who are seen as legitimate participants in the HGE debate who embrace various versions of what Fletcher would call ‘modified men’. Transhumanists, while a diverse group, generally are advocating that humans become ‘posthuman’ by surpassing the limits of what is currently considered to be human nature. In the strong version, ‘technology can be used to vastly enhance a person’s intelligence; to tailor their appearance to what they desire; to lengthen their lifespan, perhaps to immortality; and to reduce vastly their vulnerability to harm’ (McNamee and Edwards 2006: 514). These new transhumans will be different enough that some in the movement are trying to figure out how to stop them from being persecuted as a distinct species (Hughes n.d.). However, while the arguments of transhumanists sound like Fletcher and the eugenicists, there is a major difference. In the earlier debate eugenics and the ‘genetic control’ advocated by people like Fletcher was to be done for the good of society. Note in Fletcher’s argument above, he is arguing for a utilitarian framework, where we should undertake an act like creating para-humans if it is best for society. For the transhumanists, while there is a group that wants to create a new type of human for the greater good, ‘the most outspoken supporters of transhumanism are people who see it simply as an issue of free choice’ (McNamee and Edwards 2006: 514; Agar 2007: 14). Even former executive director of the World Transhumanist Association James Hughes, while decrying that transhumanists are ‘mostly adhering to one or another flavor of libertarianism’, still wants to create a ‘democratic transhumanism’ to ensure freedom of choice in how to modify yourself (Hughes n.d.: 1). He wants to: Guarantee the right of all persons to control our own bodies and minds. We not only need to radicalize our understanding of citizens, the bearers of rights, but also of the rights we have to control our bodies and minds, and the structures we need to make those freedoms real. The right to control our bodies and minds should include the right of sane adults to change and enhance their own minds and bodies, to own our own genetic code, to take recreational drugs, to control our own deaths, and to have ourselves frozen. Procreative liberty, an extension of the right to control our body and life, should include the right to use germinal choice technologies to ensure the best possible life for our children. (Hughes n.d.: 18) There are obviously not millions of committed transhumanists. While transhumanists claim many who advocate for permanent human modifications as an implicit member of their movement (Bostrom 2005: 15), explicit transhumanists are doing quite well on an elite level. For example, in a forthcoming edited volume dedicated to charting the future of ‘progressive bioethics’, co-edited by influential mainstream bioethicist Jonathan Moreno,9 there is a chapter on transhumanism written by Hughes (Hughes forthcoming). Furthermore, one of the intellectual leaders of transhumanism, an Oxford philosophy professor named Nick Bostrom, has been commissioned to write an article for the US President’s Council on Bioethics, and in June of 2008 received an £800,000 grant from the Wellcome Trust (the largest charity in the UK) to study neuroethics.10 Evidence of the increasing centrality of the transhumanists can also be found in the 360
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negative reaction of others, seemingly fearful that their message is taking hold. For example, former member of the President’s Council on Bioethics Francis Fukuyama described transhumanism as ‘the world’s most dangerous idea’ (Fukuyama 2004: 42). Similarly, philosopher John Harris seems to see transhumanism as influential enough that he needs to distinguish himself from it. He notes that ‘the use of the terms “transhumanist” and “transhumanism” is much in vogue’, but he does not have the goal of creating a new post-human species. However, if that is the consequence of the morally legitimate and/or obligatory enhancements he advocates, then being post-human is acceptable (Harris 2007: 38–9). Enhancement as moral obligation Beyond autonomy, other participants in the contemporary debate ask an orthogonal question – regardless of whether you have the right to decide to enhance your children, should you enhance your children? Philosopher John Harris starts with the autonomy presumption similar to Robertson, that the burden of proof is not on those who would exercise this liberty or right to enhancement to show what good it does, rather, it is on those who would limit it to show how and to what extent its denial is necessary to protect either the exercise of a like liberty for all or is required to protect others or society from real and present harms or dangers. (Harris 2007: 79) But, the real aim of Harris’ argument is to claim that enhancements cannot be distinguished from therapy and, as such, are morally defensible or even imperative. If we were to improve our mental capacities, this, for example, would be defensible. Applications that would stop disease may be morally obligatory. Harris also uses the newer therapy/enhancement distinction, arguing that ‘treatments of preventative measures which protect humans from things to which they are normally vulnerable or which prevent harm to that individual by operating on the organism, by affecting the way the organism functions, are also necessarily enhancements,’ so the original distinction seems meaningless to him (Harris 2007: 57). He wants to bypass the distinction and simply argue for genetic changes that lead to improvements for people. This essentially replaces the therapy/enhancement distinction with a ‘prevent harm/ confer benefit’ distinction (Harris 2007: 58). What is striking about Harris’ book is not so much the argument – which he has largely made in the past – but that it is now a very mainstream argument, showing how the centre of the debate is changing back to the position held by the reform eugenicists. The back of the book includes endorsements from Dan Brock, director of the Division of Medical Ethics at Harvard Medical School; prominent bioethicists Ruth Macklin and Bonnie Steinbock; and Ezekiel Emanuel, chair of the Department of Bioethics at the National Institutes of Health. Not that all of the endorsers of the book agree with every point of Harris’, but rather they consider this to be a legitimate part of the debate, and it would not have been 20 years previously. Standing a bit to the conservative end of the pole to Harris are philosophers Allen Buchanan, Dan Brock, Norman Daniels and Dan Wikler. In an influential book they argue that we have an obligation to create a level playing field in society of equality of 361
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opportunity. Many genetic conditions lead to a person having the field slanted against them, and these would be legitimately subject to HGE. ‘Enhancement’ is a change that goes beyond levelling the playing field, going beyond interventions that are ‘keeping people functioning as close to normally as possible’ or beyond ameliorating disease as defined by the medical profession (Buchanan et al. 2000: 123). Like similar moves by other contemporary authors, this would allow for the invention of novel gene sequences if this were necessary to give people an equal chance in society. The opponents of germline enhancement While the authors above are debating within the topic of germline enhancement (Cell 4) there remains a group of authors who are opposed to enhancements. These are authors the transhumanists label the ‘bioluddites’ or more generously the ‘bioconservatives’ (Agar 2007: 12) and that Robertson calls the ‘strict traditionalists’ (Robertson 2003). In many ways they are the re-energised remnant of opposition to HGE from the late 1960s and early 1970s. Indeed, one of the most prominent contemporary figures – Leon Kass – was a prominent opponent in that earlier era as well. What these opponents have in common is that they think that controlling the genes of our offspring to the point of being able to design in desirable features will change humanity’s conception of itself – and not in a positive way. The main concern is the transhumanists’ dream: that we humans will see ourselves as in control of our genetic destiny. Harvard political theorist Michael Sandel writes that the danger of genetic enhancement technologies is that they represent a ‘Promethean aspiration to remake nature, including human nature, to serve our purposes and satisfy our desires … And what the drive to mastery misses and may even destroy is an appreciation of the gifted character of human powers and achievements’ (Sandel 2004: 5). Sandel argues that giftedness is important because to appreciate children as gifts is to accept them as they come, not as objects of our design or products of our will or instruments of our ambition. Parental love is not contingent on the talents and attributes a child happens to have … This is why parenthood, more than other human relationships, teaches … an ‘openness to the unbidden’. (Sandel 2004: 6) Why do we need to be open to random chance with our offspring? Sandel sees the religious justification for this as ‘to believe that our talents and powers are wholly our own doing is to misunderstand our place in creation, to confuse our role with God’s’. He sees the secular version as: if humans can engineer themselves, we would no longer ‘view our talents as gifts for which we are indebted, rather as achievements for which we are responsible. This would transform three key features of our moral landscape: humility, responsibility and solidarity’ (Sandel 2004: 9). The first, humility, is important for society to ‘rein in its impulse to control’, and the random genetic components of your children helps teach you this. The second, responsibility, would increase to unmanageable levels if we thought that the success of our children was determined entirely by our eugenic choices before their birth instead of the somewhat random quality we now see. In the third, solidarity, people band together to protect each other from bad luck that is out of their control. If nothing is beyond your control, then people will abandon 362
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institutions based on solidarity because you should have solved your problem yourself. ‘Why, after all, do the successful owe anything to the least-advantaged members of society?’ Sandel asks. He sees the answer as the least-advantaged not being given the genetic gifts that lead to success, and they are therefore not entirely responsible for their disadvantaged status (Sandel 2004: 9–10). Francis Fukuyama has a similar motive as Sandel, to protect liberal democracy, which is ultimately based on the idea that all humans are equal because we share the same ‘human nature’. Enhancement would be changing human nature – making us posthuman – and thus be wrong. Of course, this opens the problem of defining human nature, which is akin to defining the therapy and enhancement. He defines human nature as ‘the sum of the behavior and characteristics that are typical of the human species, arising from genetic rather than environmental factors’ (Fukuyama 2002: 130). His ideas of what is ‘typical of the human species’ are complex, but he is trying to fix the enhancement/ therapy distinction in its old location of what is currently possible given the existing genes in the human species. He then allows for ‘therapeutic’ uses and excludes ‘enhancement’ as resulting in the post-human society (Fukuyama 2002: 211). Finally, similar arguments come from the President’s Commission on Bioethics. The Commission, chaired by Kass at the time, wrote that we need to be open to random chance with our offspring so as to not harm parent–child relationships. ‘More than any child does now, the “better” child may bear the burden of living up to the standards he was “designed” to meet’ (President’s Council on Bioethics 2003: 55). One theological version of this argument is made by theologian Gilbert Meilaender, who says that children should be ‘begotten not made’. ‘Begotten’ – akin to the giftedness Sandel describes – means that we are the equals of our children. ‘Made’ means that we are ultimately superior to them, because we designed them. When children become our ‘personal projects’, he writes, no longer then is the bearing and rearing of children thought of as a task we should take up or as a return we make for the gift of life; instead, it is a project we undertake if it promises to meet our needs and desires. (Meilaender 1997: 42) That the engineered offspring will ultimately be the products of the will of existing humans results in the common claim among these opponents that those engineered would be ‘dehumanised’.
Conclusion The bioethical debate about HGE has nearly come full circle. In the 1950s the reform eugenicists wanted to create a better species like the transhumanists do now. Advocates of HGE retreated far from these claims – all the way to only advocating somatic gene therapy – as controversy grew. Since that time the debate has been slowly returning to its reform eugenic roots. Through the mid 1970s, HGE was considered as a whole, and later different types and applications of HGE were conceptualised in ethical arguments, with the result being that many potential acts of HGE came under the aegis of medicine. As more and more types became uncontroversial, what we are left with is the debate that we started with: should we humans be able to design the features of the human species? 363
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For those who are critical of the ‘will to self-mastery’, technology may give society the time to have a public debate. That is, germline enhancement (Cell 4), despite all of the debate, will remain essentially impossible for the near future. As noted above, picking from among the embryos that two persons could produce is now commonplace, and it is not difficult to imagine people picking the ‘tallest’ or ‘smartest’ embryo, presuming something like height or intelligence has a somewhat simple genetic expression. But, through selection they are not going to be able to produce a child ‘better’ than they might otherwise do with chance alone. Thus, selection of embryos is not the type of enhancement that drives controversy. To truly achieve the post-human, parents need to be able to instil genetic qualities that they could not produce on their own. For the transhumanist dream to occur, where you or your child lives for 300 years or is super-intelligent, scientists would not only have to know which genes stop aging or cause intelligence, but how you would insert these in the human genome (without creating other problems for the child). This is truly far into the future. That said, even if the debate is not relevant for 100 years it is useful to have a public debate now, before the possibilities emerge. If we as a society decide that people should not be allowed to make enhancements then we can collectively agree to stop people from doing so.
Notes 1 The section of this article that describes the history of ethical debate about HGE until the early 1990s relies heavily on the previous work of the first author (Evans 2002). The structure of the historical account in the first four sections is the same and some of the textual passages that illustrate points in Evans’ text are also cited here. Due to the particular purposes of that earlier work, Evans describes the debate largely according to the types of rationality different texts embody. In the present article, with a different purpose, we highlight slightly different aspects of the texts in the debate. 2 His example of a simple enhancement is the insertion of a single gene that would make someone larger. But this category is later implicitly reduced to either somatic or germline therapy because he says this is acceptable only in cases where it is ‘preventive medicine’. 3 ‘Human cloning and genetic modification: the basic science you need to know’; online: www.arhp. org/files/cloning.pdf 4 www.ornl.gov/sci/techresources/Human_Genome/medicine/genetherapy.shtml 5 Ibid. 6 However, the moral difference between PGD and HGE remains large for those who believe that embryos are persons, deserving of full protection, assuming that HGE could be conducted without harming any embryos. 7 Andrew Pollack, ‘Engineering by scientists on embryo stirs criticism’, New York Times, 13 May 2008, p. A14. 8 With the exception of ‘rare cases of truly wrongful life’, where ‘every postpartum moment is excruciatingly painful’. In these cases Robertson writes that ‘one would have a moral obligation to end that child’s life’ (Robertson 2004:14). 9 Moreno, holding a named chair at the University of Pennsylvania, is an elected member of the Institute of Medicine of the National Academies, co-chair of the Academies’ Committee on Guidelines for Human Embryonic Stem Cell Research, past President of the American Society for Bioethics and Humanities and a senior fellow at the Center for American Progress. He has been a senior staff member for two presidential commissions and testified before Congress. (www.bioethics. upenn.edu/People/?last = Moreno&first = Jonathan). 10 ‘Oxford University to launch UK’s first neuroethics centre’, University of Oxford; online: www.ox. ac.uk/media/news_releases_for_journalists/080624.html (accessed 1 July 2008).
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References Agar, N. (2007) ‘Whereto transhumanism? The literature reaches a critical mass’, Hastings Center Report, 37, 3: 12–17. Anderson, W.F. (1985) ‘Human gene therapy: scientific and ethical considerations’, Journal of Medicine and Philosophy, 10: 275–91. Anderson, W.F. and Fletcher, J.C. (1980) ‘Gene therapy in human beings: when is it ethical to begin?’ New England Journal of Medicine, 303: 1293–300. Baylis, F. and Robert, J.S. (2004) ‘The inevitability of genetic enhancement technologies’, Bioethics, 18, 1: 1–26. Beauchamp, T.L. and Childress, J.F. (2001) Principles of Biomedical Ethics, 5. New York: Oxford University Press. Bostrom, N. (2005) ‘A history of transhumanist thought’, Journal of Evolution and Technology, 14, 1: 1–25. Buchanan, A., Brock, D.W., Daniels, N. and Wikler, D. (2000) From Chance to Choice: Genetics and Justice. New York: Cambridge University Press. Davis, B.D. (1970) ‘Prospects for genetic intervention in man’, Science, 170: 1279–83. Evans, J.H. (2002) Playing God? Human Genetic Engineering and the Rationalization of Public Bioethical Debate. Chicago, IL: University of Chicago Press. Fletcher, J. (1971) ‘Ethical aspects of genetic controls’, New England Journal of Medicine, 285, 14: 776–83. Fletcher, J.C. (1985) ‘Ethical issues in and beyond prospective clinical trials of human gene therapy’, Journal of Medicine and Philosophy, 10, 3: 293–309. Friedmann, T. (1989) ‘Progress toward human gene therapy’, Science, 244: 1275–81. Fukuyama, F. (2002) Our Posthuman Future: Consequences of the Biotechnology Revolution. New York: Farrar, Straus and Giroux. —— (2004) ‘The world’s most dangerous ideas: transhumanism’, Foreign Policy, 144: 42–3. Genetics and Public Policy Center (2005) Human Germline Genetic Modification: Issues and Options for Policymakers. Washington, DC: Genetics and Public Policy Center. Harris, J. (2007) Enhancing Evolution: The Ethical Case for Making Better People. Princeton, NJ: Princeton University Press. Hughes, J. (n.d.) ‘Democratic transhumanism 2.0’; online: www.changesurfer.com/Acad/DemocraticTranshumanism.htm (accessed 10 February 2007). —— (forthcoming) ‘Technoprogressive biopolitics and human enhancement’, in J. Moreno and S. Berger (eds) An Audacity of Imagination: Defining Progressive Bioethics. Cambridge, MA: MIT Press. Juengst, E.T. (1997) ‘Can enhancement be distinguished from prevention in genetic medicine?’ Journal of Medicine and Philosophy, 22: 125–42. Kevles, D. (1985) In the Name of Eugenics: Genetics and the Uses of Human Heredity. Berkeley, CA: University of California Press. McNamee, M.J. and Edwards, S. (2006) ‘Transhumanism, medical technology and slippery slopes’, Journal of Medical Ethics, 32: 513–18. Meilaender, G. (1997) ‘Begetting and cloning’, First Things, June/July: 41–3. Parens, E. (1998) ‘Is better always good? The enhancement project’, in E. Parens (ed.) Enhancing Human Traits: Ethical and Social Implications. Washington, DC: Georgetown University Press, pp. 1–28. President’s Council on Bioethics (2003) Beyond Therapy: Biotechnology and the Pursuit of Happiness. Washington, DC: Government Printing Office. Resnik, D. and Langer, P. (2001) ‘Human germline gene therapy reconsidered’, Human Gene Therapy, 12, 11: 1449–58. Robertson, J.A. (2003) ‘Procreative liberty in the era of genomics’, American Journal of Law and Medicine, 29: 439–87. —— (2004) ‘Procreative liberty and harm to offspring in assisted reproduction’, American Journal of Law and Medicine, 30: 7–40. Rosen, C. (2004) Preaching Eugenics: Religious Leaders and the American Eugenics Movement. New York: Oxford University Press.
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Sandel, M.J. (2004) ‘The case against perfection’, The Atlantic Monthly, April: 293. Savulescu, J. (2001) ‘Procreative beneficence: why we should select the best children’, Bioethics, 15, 5/6: 413–26. Sinsheimer, R.L. (1969) ‘The prospect for designed genetic change’, American Scientist, 57, 1: 134–42. Walters, L. and Palmer, J.G. (1997) The Ethics of Human Gene Therapy. New York: Oxford University Press.
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25 Towards a bioethics of disability and impairment Jackie Leach Scully
Introduction The relationship between bioethics and disability is complex, paradoxical and often very strained. Bioethics arose as an offshoot of medical ethics to deal with the increasingly difficult issues thrown up by medical practice from the late 1960s onwards (Jonsen 1998; Tong 1997), and although 40 years on the precise parameters and constituencies of bioethics are still a matter of internal debate (Rehmann-Sutter et al. 2006), issues around illness and bodily anomaly remain its stock in trade. In principle this makes disability of central bioethical concern (Scully 2008). Yet for some time the field has been heavily criticised by parts of the disability community, accused of focusing solely on techniques of avoiding disability, at the cost of a genuine engagement with it. In this chapter I outline the history and present status of the bioethics of disability and impairment. I will not attempt to detail all the bioethical arguments on every relevant issue, but will concentrate on those key features of disability on the one hand, and bioethical approaches to it on the other, that have proved contentious. Towards the end I will take a look at two well-known points of argument – the ‘expressivist’ disability critique of prenatal testing, and the use of genetic methods to select for rather than against impairments – and suggest what I consider to be more fruitful ways for the bioethics and disability communities to collaborate.
Genetic and reproductive technologies and disability There is one very obvious reason why the need to explore biomedicine’s and bioethics’ response to impairment has become pressing right now. As other contributions to this collection show, in the years since the structure of the DNA macromolecule was first published, genomic science has profoundly affected our lives – in the countries of the affluent north and west at least. In part, this is through the conceptual tools it offers us for thinking about topics such as kinship, food, reproduction, animals, security and so on. Both the scholarly world and popular culture have grown accustomed to turning to genomic science for authoritative answers to the fundamental questions of human 367
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existence. More concretely, genomic thinking is also beginning to be implemented in actual medical practice. Thus today’s genetic and reproductive technologies offer radically new options for active intervention in disability, options that range from the clinically everyday to things that are currently science fiction (but one day may not be). Since the 1980s genetic testing has increasingly been able to identify people carrying specific genes, and their symptoms matched to genetic diagnoses; for some impairments prenatal diagnosis is possible by an array of imaging and/or genetic techniques; other methods include preimplantation genetic diagnosis (PGD) and variants of it undertaken as part of in vitro fertilisation,1 possibly one day somatic and germline gene therapy. The prenatal prevention of genetically based impairment on this scale is historically unprecedented, and ethically important. It is one thing to have an opinion on impairment, but such opinions take on quite different significance when they provide the rationale for concrete, effective actions that include preventing the birth of certain kinds of people. This is why it has become urgent to clarify what are the grounds for contemporary societal opinions about disability, and to what extent they lead to clinical interventions that are ethically justifiable.
Genetics/eugenics Genetic knowledge has long been used in attempts to minimise the probability of transmitting unwanted characteristics from one generation to the next. It is because of this that the early twentieth-century history of genetic science is heavily marked by its association with the eugenic movement that flourished throughout Europe and North America at that time (Kerr and Shakespeare 2002). It culminated in the eugenic programme of the German Third Reich, in which thousands of adults and children with learning or physical impairments, or mental illness, are known to have been killed (Gallagher 1995; Ryan and Schuchterman 2002); but it should not be forgotten that the beliefs and acts of eugenicists in other countries in that period, though they did not go so far in practice, were just as extreme and, to the modern view, repugnant. Many northern European countries, for instance, had extensive programmes for the compulsory sterilisation of people with physical or intellectual traits (Kerr and Shakespeare 2002). Given the close association between early modern genetics and eugenics, combined with the history of eugenicism in Europe, it is hardly surprising that disabled people today may have reservations about genomic science and its uses (Shakespeare 1995). The fraught relationship between bioethics and disability activism therefore has its roots in two specific features. One is bioethics’ extensive involvement in the discussion of the moral, legal and policy implications of selecting against genetic impairment and/or setting legal limits to such selection. Bioethical arguments are used in the context of ethics committees and policy-making bodies to provide the moral justification for the laws and guidelines that regulate selective reproductive technologies (and to a lesser extent, end-of-life decisions). Disability activists have argued that the voices of disabled people have been largely excluded from these discussions, and they are increasingly angry that this exclusion persists. The other reason, however, is one of historical contingency. It goes back to the controversy surrounding the bioethicist Peter Singer’s arguments about the medical treatment of disabled neonates, which he first put forward in Practical Ethics (1979) and later expanded in Should the Baby Live? (1985). Singer suggests that it is morally permissible for 368
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the parents of a severely disabled infant to choose to have it killed, or let it die. He argues this on the grounds that many severely impaired infants will have what he describes as ‘miserable lives’ and that they lack what he considers to be central characteristics of personhood such as the capacities for reason, self-awareness and interest in their future life. Arguments like these, first proposed in relation to neonatal medicine, have been extended to the technologies of selective reproduction, where it can be suggested that if it is morally permissible to kill severely disabled neonates, then it must also be at least as morally permissible, if not more so, to terminate severely disabled foetuses or to choose not to use embryos carrying severe genetic lesions in PGD. Singer writes as a preference utilitarian, using a theoretical framework that conceptualises acts as guided by the principle of maximising the satisfaction of people’s preferences. Many (though not all) of the bioethicists who have participated in the discussion of impairment and genomic science are also utilitarians, and so this particular form of bioethical argument, along with the conclusions it tends to reach, have become emblematic of bioethical thinking around disability (see, for example, Stein 2006). However, utilitarianism is only one of many analytical and methodological approaches to be found in bioethics. (It should also be noted, of course, that not every utilitarian would reach the same conclusion as Singer.) For instance, more theologically based bioethicists may use deontological arguments about the sanctity of life; secular deontologists may argue around duties to various agents in a situation; a virtue ethics approach will take more account of ideas about the acts of a good parent, or clinician. Some of these other approaches may more accurately reflect the complexities of the phenomenon of disability, as well as coming to different conclusions. I shall return to this later. While it is understandable that Singer’s arguments about severe neonatal disability have had such a high profile, the degree of polarisation they have caused has been counterproductive to both the discussion of disability within bioethics, and the discussion of bioethics within disability studies. Many people in the political disability community, but also some outside it, find the strictly utilitarian approach hard to take, whether applied to bioethical questions in general or to the particular issues of disability bioethics. They find the use of this ethical system especially worrying because it uses measurements of happiness (in some form) which in this context rely heavily on subjective assessments of suffering, pain, tolerability and so on in the lives of disabled people; critics say these assessments are often poorly informed about the realities of disabled lives (Asch and Wasserman 2005; Mackenzie and Scully 2007). Hostile reactions, including protests at public lectures, to bioethicists have raised profound issues about academic free speech (Singer 1993); they have also had the effect of preventing some bioethicists from taking the arguments of disabled people seriously. In turn, disabled people have been discouraged from working with bioethics to encourage greater diversity in its exploration of disability and impairment.
Theories of disability and how bioethics uses them Even without these tensions, disability would never be a straightforward phenomenon for bioethics to get to grips with. And although some of the charges of the disability community are exaggerated, in my opinion it is justified in claiming bioethics has tended to oversimplify something more complex, failing to accommodate certain important features of disability in its considerations. For instance, any discussion of disability has to 369
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cope with the enormous heterogeneity of impairment. Although precise figures are hard to come by, because of differences in definition and survey methodologies, a common estimate is that approximately 10 per cent of the population of a country could be classified as disabled. It is important to bear in mind, too, that despite the current focus on genetic aetiologies, only about 10 per cent of all disabilities have a genetic cause; the vast majority of impairments result from trauma, disease or simple ageing. Thus as an organising idea, disability has to hold together a daunting variety of body states, some of which are universally agreed to be disabling, and others whose status is more contested. All of this makes problematic the tendency of some (not all) bioethicists of invoking an abstract ‘disability’ without saying exactly which impairments, and in which social and cultural contexts, they have in mind. The lives of a paraplegic wheelchair user, a signing Deaf person, an adult person with Down’s syndrome, or an infant with the metabolic disorder Gaucher’s disease, are significantly different in ways that are related to the specific nature of their impairment. It also seems likely that whether the people concerned are in Newcastle, New York or New Delhi will have some bearing on their experience too. At least some of these differences will be relevant to the judgements of bioethicists about quality of life which lie behind considerations of whether termination of a foetus with the condition is ethically justifiable, and so on. Another feature that bioethics has tended to neglect is the lack of consensus about what it is that is actually disabling. Is it the biological anomaly itself, or social responses to it, or something about the interaction of the two, and if so, what? Bioethics’ symbiotic relationship with biomedicine means that it reflexively turns to the conceptual frameworks that medicine offers for thinking about disability, and in turn bioethicists have been inclined to work from biomedicine’s norms of human embodiment (Scully 2002). A medical framework generally sees the disadvantage and undesirability of disability as connected in a direct and linear fashion to the presence of a clinically identified abnormality (see discussion in Shakespeare 2006). The key features of the medical framework are that disability is a nominative pathology, that is a defect or deficit in an individual determined by reference to a norm of physical or mental structure and function. The parameters of the norm are given by biomedical knowledge. So in a medical model,2 disability is defined as an abnormality of form or function, and its cause lies in the biology of the individual. Although biomedicine has allowed a role for nonmedical factors in contributing to the impact of disability, it generally does not implicate the environment or social world in the constitution of disability (as some social relational models do), and bioethics has followed suit. Genetic models of disability The advent of genomic medicine has altered medical ideas about the aetiology of disability; it has, in effect, produced a genetically modified variant of the biomedical approach. It has certainly modified the popular understanding of what causes disability. In a ‘programme’ model of gene action, the DNA sequences of an organism determine phenotypic characteristics in a linear way, and are therefore responsible for all differences between human beings. Particular gene sequences predictably give rise to the corresponding disabling bodily variation. In this view, deviation from the canonical genomic norm may be taken to be the same as the possession of a defective genome. As will be obvious from other contributions to this volume, this picture of a conceptually simple path (from gene to complex human forms and behaviour) glosses over poorly understood 370
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disjunctions between genotype and phenotype, and between phenotype and being (Neumann-Held and Rehmann-Sutter 2006). For most characteristics, science is not (yet) in a position to predict a person’s health and behaviour with certainty from genetic information alone. Nor is it possible for genomic science on its own to say much about how a person’s health and behaviour relate to the kind of life he or she will have. There are mutations or changes in the DNA sequences that either have no effect on the structure of the resulting protein (because of the redundancy of the genetic code) or the effect does not detectably alter its function. And although the genotypic change may result in an altered protein, it may also be the case that the resulting change in phenotype does not significantly affect the organism’s biological functioning. Even when it does, for humans living in social groups where the direct effects of natural selection are buffered, a large degree of body diversity is neutral in its effect on a person’s life. At some point, of course, phenotypic diversity becomes so extreme that it becomes problematic for the individual – it becomes an impairment that affects quality of life. Where and why this happens, however, is not solely to do with the magnitude of the divergence from the norm, but also involves the nature of the interaction between the phenotype and the surrounding conditions. When making judgements about quality of life, or about which clinical interventions are appropriate, bioethicists are not directly interested in how well an organ or biochemical pathway works. These things are only morally relevant through their impact on the life in question. If a disabled person suffers it is through subjectively undesirable experiences of pain, disadvantage, difficulty or exclusion. The details of these experiences, including how severe the effect is and which aspects of life are affected, will differ from person to person according to individual circumstances and context. Usually, however, biomedicine and bioethics assess and predict quality of life through the use of surrogate markers (Scully 2008). First, impairment is used as a surrogate marker for the set of experiences we call disability. That is, it is assumed that a bodily impairment can be equated with the disablement a person encounters. I shall come back to this in a moment. Second, the modern biomedical view of disability takes an additional step back in which impairment itself is replaced by a surrogate marker of phenotypic variation. Simple phenotypic variation is ubiquitous, and not always disadvantageous either biologically or socially.3 Some variations stand out because they really do have major disadvantageous effects, i.e. they really are impairments. The use of this surrogate, however, assumes that this is always the case, or always to the same degree. Physical variations that are commonly encountered will tend to be thought of as lying within the normal range, while those that are statistically more unusual are not. Here, I think that it is helpful to use the term ‘phenotypic variation’ to denote a deviation from species-typicality, before we start to measure how much of an impairment the variation is. I want to emphasise here that I am not claiming that phenotypic variation is never impairment, only that we should not assume that it is. The use of ‘impairment’ jumps the gun; ‘phenotypic variation’ takes longer to say, but it allows us to start with a more neutral consideration of which variants are actually a problem, and in what way. Genomic science introduces yet another level of surrogacy, in which an alteration of the DNA sequence is used as a reliable predictor of a subsequent change in phenotype. The identification of a person as disabled on the basis of his or her genotype is a radical shift in the meaning of both disability and impairment. It takes chemically encoded information as an adequate stand-in for phenotypic change, impaired structure and function, and then for the lived experience of disadvantage. This is not necessarily illegitimate or misleading, since genetic mutations can lead to phenotypic variation; 371
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phenotypic variation is often impairing; and impairments can be disadvantageous. Still, the use of surrogates always carries the risk of confusing the marker with the thing itself, and of losing sight of the other, nongenetic factors which are different and have different effects at each level of surrogacy. This is a particular risk for bioethical discourse, which on the whole wants the simplest possible way of talking about disability in order to concentrate on the philosophical argument. I have argued more fully elsewhere (Scully 2002, 2008) that genomic science actually provides material for a deeper questioning of the norms of embodiment, because of the evidence it provides of the ubiquity of genotypic and phenotypic variation. Genetic models of disability are frequently viewed as the most reductionist of medical models (Sarkar 1998). Although they can lend themselves to this, it isn’t necessarily the case. To do so depends on recourse to a reductionist and determinist paradigm of gene action that has been reinforced by talk of sequencing ‘the’ human genome, which is (wrongly) taken to mean that there is ‘a’ normal human genome rather than numerous normalities. Social-relational models of disability Until recently, the bioethical literature seemed largely unaware of the conceptualisations of disability that other disciplines, including disability studies, make use of, and that may be better placed to capture how disability arises and what is undesirable about it than are purely medical ones. While disability studies offers theoretically sophisticated models, however, they are not always easy to integrate into the work of bioethics. Perhaps the best-known alternative is the so-called social model, a structural analysis of disability which originated within British disability activism in the 1970s and 1980s (Oliver 1990, 1996; Shakespeare 2006). It can be helpful to refer to this as the strong social model, to distinguish it from social-relational models. One of its most valuable analytic moves was to redefine disability as something other than a biological problem, effectively breaking the conflation of impairment and disability on which the medical framework relies. While impairment in the strong social model is an individual biological manifestation such as hearing loss, disability is the ‘disadvantage … caused by a contemporary social organisation which takes no or little account of people who have physical impairments and thus excludes them from participation in the mainstream of social activities. Physical disability is therefore a particular form of social oppression’ (Union of Physically Impaired Against Segregation 1976: 14). According to the strong social model it is barriers to participation in society, and especially to participation in the labour market, which are disabling and not any intrinsic property of bodily impairment. Because of this perspective the strong social model naturally focuses on removing socioeconomic barriers to civil participation before anything else. The strong social model has been criticised by myself and other disability scholars (Crow 1996; Thomas 2007; Shakespeare 2006) for neglecting aspects of disability that are not material and economic, including experiences of pain and emotional distress, intersubjective relationships, and representational aspects of disability. There are other, more broadly based social-relational approaches that do not claim that all of impairment’s disadvantage lies in disabling socioeconomic barriers, but (more plausibly, in my view) see a variety of effects at the interface between phenotypic variation and the social world. Some scholars, for example, highlight the shifting cultural representations and meanings of disability, and how they have changed the ways in which it is possible to think about, and to live as, disabled. 372
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Civil rights/minority model More dominant in the United States than in Europe, this perspective focuses on disabled people as a minority within majority (nondisabled) society. Although a civil rights argument tends not to follow the strong social model in claiming that disability per se is a function of social barriers, it does argue that disabled people are marginalised through social, economic, environmental and cultural barriers that block full participation as citizens (Asch 2003). Like the strong social model, then, it carries a greater risk of developing monocular vision about the ethical issues that confronting disabled people than more fluid social-relational perspectives. Its critics also accuse it of constructing a false homogeneity of disabled people, in order to create the kind of coherent identity that can be recognised politically (Benhabib 2002). However, its track record shows it to be an extremely effective framework within which to achieve legislation for disability equality. Any discipline contending with disability today needs to look beyond (but should not exclude) purely biomedical, socioeconomic or political understandings of impairment. Whatever their limitations, all the social-relational and minority models both reflect and reinforce genuine sociocultural and political changes in the status of disabled people. If we take the argument of social relational models and say that the connection between impairment and the experience of disablement is more contingent than has commonly been assumed, the validity of either genotypic or phenotypic variation as a surrogate marker (whether such variation really can ‘stand for’ disability in that way) becomes more questionable.
Bioethical diversity Disability therefore can be considered as having biological, socioeconomic, discursive, political, cultural, psychological and moral dimensions, with any one model prioritising selected aspects of the whole. Bioethics’ history and vocational focus mean that it is most at home with biomedical and life science models: Anglo-American bioethics has concentrated on the practical clinical questions that disability poses rather than its moral or ontological meaning, while continental philosophy, although more inclined to address metaphysical issues, still uses medical narratives as its starting point. The question is whether these models of disability are adequate for bioethics’ engagement with it, or whether other, nonmedical ones offer useful alternatives. Of all the perspectives I have just sketched out, bioethics is least likely to engage happily with the strong social model. Its analysis shifts the focus of interest into areas where bioethics has little expertise or experience, and hitherto not much interest either. If disability results purely from disabling social arrangements, then it would have to be argued that the ethically appropriate responses are primarily social, economic or political ones. The ethical debate about the ‘problem’ of disability should not be about regulating which prenatal genetic test can legitimately be offered, but about redistributing economic resources and changing educational and employment policies, to ensure that people with impairment get a fair shot at the goods the rest of society enjoys. This is clearly an ethical issue, but not an obviously bioethical one. But bioethicists are likely to reject the strong social model for reasons other than the fear of professional redundancy. There are bioethicists who find its materialist focus simply wrong, or crude or misdirected, and they would be joined by disability scholars 373
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and activists who also think the strong social model incapable of capturing important aspects of disability – as incapable as the purely medical model, although for different reasons. Some versions of social-relational theory are intuitively more promising, in enabling bioethics to incorporate greater flexibility in identifying the ethical problems which arise out of impairment. A minority/civil rights framework also offers more scope to bioethicists with an interest in human rights (Asch 2001; Morris 2001). If conceptualisations of disability have diversified over the last 30 years, it is also the case that there is increasing diversity in bioethics itself. While it remains true that bioethics’ engagement with disability has not (yet) pushed much beyond the libertarian consequentialism or utilitarianism of Peter Singer, John Harris, Julian Savulescu and other moral philosophers, and that this has defined the public perception of what ‘bioethicists’ think about disability, the methodological and theoretical range of bioethics is, in reality, much wider. Bioethics’ intellectual roots are in moral philosophy, where utilitarianism coexists alongside other consequentialist theories and ethical traditions (deontology, virtue ethics, casuistry, pragmatism). The principlism of the Belmont Report (see Beauchamp and Childress 2008) was introduced very early on in the history of bioethics. Alongside these alternative strands within what might be called mainstream bioethics, the fact that it has always been an interdisciplinary inquiry has entailed concomitant methodological pluralism, and the last decade has seen a number of new approaches emerge and flourish. One important new strand can be found in approaches distinguished by their use of empirical methods at one or other point in the bioethical enterprise (Hope 1999; Holm and Jonas 2004; Sugarman 2004; Zussman 2000). The ‘empirical turn’ in bioethics is documented in a study published in 2006 (Borry et al. 2006) which surveyed nine peer-reviewed journals and estimated that the proportion of published studies using some kind of empirical methodology had risen from 5.4 per cent in 1990 to 15.4 per cent in 2003. Empirical bioethicists vary in approach and theoretical commitment, but they all share the view that in a situation of bioethical interest, empirical knowledge of people’s actual behaviour and thinking is necessary in order to analyse it ethically, devise and monitor appropriate interventions, or formulate good policy. So far, it must be said that purpose-built, empirically based bioethical studies of disability (rather than sociological studies on which bioethicists are fortuitously able to draw) have been rare. Such studies face a number of practical obstacles. One common to all empirical bioethics is that the research must be multi or interdisciplinary, since few philosophically trained bioethicists are adequately trained in methods of social science data collection and interpretation, and vice versa. Beyond this, disability also presents its own unique methodological barriers. First is the need to clarify the subject of research. Since, as discussed earlier, disability is a highly heterogeneous phenomenon, and since there is also theoretical disagreement about what constitutes disability or impairment, researchers may find themselves studying a group of people that others will contest are not ‘really’ disabled, and certainly not representative of disabled people in general. A more practical barrier is that of gaining access to disabled people. Empirical bioethics research is largely carried out in healthcare settings, primarily involving medical personnel and sometimes patients, relatives or carers. But the majority of disabled people are not ill, and so they need have no more contact with healthcare services than anyone else. The disabled people who are accessible via healthcare services tend to be the most severely impaired, or in rehabilitation following illness or accident, or who have additional health problems, and they make up only part of the disabled population. If 374
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researchers are interested in ‘ordinary’ disabled people, recruiting them for study demands considerable ingenuity. Once identified, not all disabled people are enthusiastic about participating in an ethical study anyway. In one of our studies in mainland Europe, for example, we found a hostility to ‘being investigated’ that could be traced back to the taken-for-granted link between bioethics and eugenics described earlier (Scully et al. 2004).4 Several writers, including some from disciplines at the periphery of bioethics like sociology, advocate a more critical and self-critical form of bioethics (Haimes 2002; Hedgecoe 2004). They want more attention directed to the relations of power and authority that shape real-life situations of ethical difficulty, and in practice determine the kinds of situations that are identified as ethically problematic as well as the questions that are asked about them. A critical bioethics also takes a more sceptical view of the nature of the moral knowledge being held up as authoritative, while self-critique means that the moral understandings (Walker 1998) held up for scrutiny necessarily include bioethics’ own. It has become something of a cliché to point out that until very recently, the profession of moral philosophy was staffed by a socially limited subgroup of people: overwhelmingly male, affluent enough to be educated, mostly white, and from JudaeoChristian cultural backgrounds. They are also generally not disabled, except by the impairments of age. Critical moral epistemologists would argue that the forms of knowledge taken for granted in bioethics are therefore epistemically skewed to reflect the social and historical circumstances of these participants, and are unlikely to be representative of the viewpoints of disabled people – whose viewpoints are not homogenous either (Lindemann et al. 2008). Feminist bioethics is another strand within mainstream bioethics that offers theoretical and methodological purchase on often neglected aspects of bioethical problems – not only the gendered aspects, but more general applications such as the moral significance of embodied difference, social exclusion, or political marginality. In the next sections, I want to look at two key areas where disability has been debated in bioethics, consider briefly the discussion to date, and indicate where some of the more diverse approaches I have just outlined offer fresh thinking for the future.
Disability critique of prenatal and preimplantation genetic diagnosis The disability critique of prenatal diagnostic techniques (PDT) centres on the following points: (1) that it sets us on a ‘slippery slope’ to flagrantly discriminatory eugenic practices of the kind that were prevalent in the early to mid-twentieth century, with the difference that this time disabled people will be eradicated before birth rather than after; (2) it reveals an intolerance of diversity, and a desire on the part of parents to be picky about the characteristics of their child, which runs counter to many people’s ethos of parental love being unconditional; (3) genetic testing and selection against disabling traits ‘sends out a message’ about disability. I will concentrate on the third point here (Parens and Asch 2002). This is the so-called ‘expressivist argument’ first stated in terms of selective abortion (Asch 2002) and since extended to cover all forms of PDT. The expressivist claim is that selective abortion, embryo transfer, and the act of testing itself, expresses the attitude/sends out the message that life with at least some impairments is not worth living. Asch says that it is discriminatory because ‘the trait obliterates the 375
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whole … the tests send the message that there’s no need to find out about the rest’ (Asch 2002). The expressivist argument is intuitively compelling, but its validity is hotly contested. Here, an empirical bioethical approach would be helpful in providing evidence one way or another that either the personal uptake, or the general availability, of PDT really does have the effect of transmitting a discriminatory message. For example, if there were solid empirical data showing an increase in a relevant indicator (discriminatory legislation, hate crimes, negative attitudes towards disability and so on) in parallel with the spread of PDT, this would lend support to (although not prove) the claim that PDT has a negative effect on the nondisabled public’s ideas about disability and disabled people. While no clear evidence for this has been presented, it must be admitted that not much effort has yet gone into studying it, or even considering which indicators would be appropriate. Theoretical counters to the expressivist argument have been put forward that contest whether the act itself qualifies as a message, according to whether the actor intended the message, or if the intention of the message was clear (Buchanan 1996; Kittay 2002; Nelson 2002). An additional problem is that although we talk loosely about ‘having prenatal testing’ it is not clear which components of this actually rather complex process are most relevant: the woman’s decision to terminate, her acceptance of prenatal screening at the outset, the routine coupling of test with termination, or the availability of prenatal screening as a standard part of antenatal care. Furthermore, how ‘the message’ of an act or a policy is understood depends on the context in which it occurs. Real contexts are likely to permit more than one interpretation. The availability of PDT, and individual choices about its use, if these constitute a message at all, would be understood differently in an overtly eugenic society than in one which at least pays lip service to an ideal of the equality of its members. The critical bioethical approaches, of the kind I outlined above, would be interested in different features of the contexts within which messages are ‘sent out’. A more politically reflective bioethics would be clearer about the structural differences between individual choices about PDT, and policy decisions around resources that prioritise the development of a steadily increasing set of testing options over ‘downstream’ improvements in social provision for disabled children and adults. Individual choices are particular, embedded in the context of a real life, and directly connected to a concrete action (of testing or not). Policy decisions are made on behalf of the collective, and so they are generalised, and not connected to a concrete action but to more abstract considerations of how a class of actions should be regulated. Arguably, these characteristics mean that policy decisions are more likely to follow the dynamic predicted by the expressivist argument than are individual choices. The real contexts in which health policy decisions are made will normally permit more than one interpretation, and a society’s common cultural and historical elements determine which interpretation predominates. The meanings of policy decisions are therefore more likely to be ‘readable’ and understood by more people, because they lack the confounding variability of the individual sender, and because they (generally) reflect some sort of collective desire. A further ethical concern is that policy decisions themselves help to establish and then reinforce the framework that makes the act understandable. The important point here is that this places the ethical problem of the expressivist message of PDT less in the individual woman’s or couple’s choice of testing or termination, and more in the social structures and policies that contribute towards creating the framework within which the act will be interpreted. 376
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Genetic choice and ‘choosing disability’ Considerable bioethical attention has focused on cases in which people with an impairment use genetic knowledge to increase the chances of having a child with the same impairment, rather than to avoid it. These cases are rare, and (perhaps because they represent hard cases) the degree of bioethical interest disproportionate. But the public and professional interest is less a reflection of practical immediacy, than of just how disturbing it is when people make genetic testing decisions that run against the grain of normal practice. A case like this caused a flurry of media attention in early 2002, when it was reported that a couple from Washington DC, both with hearing impairment that was probably genetic, had chosen to increase their chances of having a Deaf child by using sperm from a male friend who also had a heritable form of deafness (Mundy 2002). Most of the subsequent bioethical discussion has opposed these parents’ decision (Anstey 2002; Levy 2002; Savulescu 2002). Moreover, the arguments raised both in opposition and (more rarely) support have been based on notions of parental, and sometimes societal, rights and obligations. There were those who argued that a child has a right not to be harmed and therefore parents have a concomitant obligation not to harm her. In this case, the harm consists in condemning the child to a disability that could have been avoided. In a well-known article on the general use of genetic testing to implement parental desires (Davis 1997) Dena Davis argues that a disability, such as hearing impairment, will necessarily narrow the range of choices that could otherwise be available to a child as she grows up. Davis avoids being drawn into a discussion of whether being deaf is itself a harm, but concentrates on what she identifies as parental disregard for this child’s right to an ‘open future’ (Feinberg 1992), in that the deliberate choice of impairment limits the child’s choices ‘forever to a narrow group of people and a limited choice of careers’. Davis holds that, in a liberal state, having a diversity of communities, including the Deaf community, generally increases autonomy because it increases the number of ways in which a person may choose to live. However, this only works if individuals are in fact free to choose which community they want to be part of, and Davis thinks that certain parental choices – like selecting for hearing impairment, or perhaps even choosing not to select against it – reduces that freedom.5 These arguments by Davis and others have been critiqued on a number of points. Relying on a liberal paradigm in which autonomous choice per se has high value, they tend to imply it is the sheer number of possible open futures that matters rather than what the possibilities contain. Further, the initially attractive concept of an ‘open future’ turns out to be more problematic. Given that all parents make decisions about the form and content of a child’s life from the moment she is born (and often before), including the education she gets and the company she keeps, any child’s future must be seen as significantly constrained by the decisions of her parents. The debate in the bioethical literature is over whether genetic choices are significantly different from nongenetic ones. More generally, the difficulty for those who want to use the ‘open future’ argument is their failure in most cases to be sufficiently critical of their background assumptions about what constitutes autonomous choice or good lives, and what disabled lives are like. But the problem at the heart of analyses that focus on rights or the preservation of individual (the child’s) autonomy is that they ignore the question of why the rightness or wrongness of the decision seemed so obvious to people. For probably the majority of commentators, willingly opting for a child with a hearing impairment was unquestionably a harm. For others, predominantly but not solely from the Deaf community or disability 377
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activist groups, the parents’ choice was both intuitively correct and rationally justifiable. Yet one of the most striking features of the whole debate around ‘choosing disability’ is the neglect of research into the sources of people’s apparently antagonistic normative convictions. The Washington case stands out because it is so counterintuitive to most hearing people. Yet it might be that there are other areas in which disabled people have a different perspective on topics of bioethical importance. To find out whether this is the case, and if so what the differences are, requires empirical investigation of a kind that neither bioethics nor sociology has yet undertaken. If some disabled people make choices, hold opinions, or prioritise particular goods that are different from those of the majority of nondisabled people, we could say they have somewhat different moral understandings (Walker 1998; Scully, 2008), and this should be ethically relevant if we hold that ethics should have something to do with existing social realities. Empirical studies of social, historical, economic, political, cultural, or relational circumstances may then go some way towards providing explanations for commonalities and differences.
Future directions Emerging from this history and contemporary efforts, there seem to be two distinct but overlapping ways in which bioethics can address issues of disability. What I will call the ethics of disability is the systematic reflection on morally correct ways to behave towards disabled people – in everyday interactions, in healthcare or employment policy, or in law. The ethics of disability are necessarily both specific (they are about disability) and general (they must seem reasonable to both disabled and nondisabled people if they are to have any real moral force). In fact, to date bioethics has tackled disability almost exclusively in this way, not least because this is what its functions of regulation and justification requires it to do. Disability theorists, on the other hand, have not paid as much attention to the ethics of disability as they could have. Even though much of what goes on under the broad heading of disability studies has an implicit ethical commitment derived from its radical origin and emancipatory goals, the ethical dimension is not made explicit. When disability theorists do engage with bioethics, they have also tended to approach it as a bioethics of disability, that is an attempt to think systematically about the proper stances and behaviour towards disabled people. The disability critique of prenatal diagnosis, including the expressivist argument, is an example. I have suggested that to improve the way bioethics of disability is done, we need to expand the range of theoretical and methodological approaches we bring to it. In particular, it is important to improve the discipline’s empirical grounding in aspects of disabled lives that are of bioethical relevance – the processes of decision making around prenatal genetic testing is one example. However, there is growing agreement that the ethics of disability needs to be complemented by another kind of empirical and theoretical engagement with phenotypic variation. Disability ethics refers to the investigation of particular moral understandings that may be generated through the experience of disability. Like feminist ethics, it is a form of ethical analysis consciously and conscientiously attentive to the experience of being/having a ‘different’ embodiment. But where feminist ethics’ concern is with the non-normativity introduced by gendered bodies, disability ethics looks at the embodied effects of impairment. It works from people’s experience of disability to see if and how it colours their perceptions, interpretations and judgements of what is going on in moral issues, especially in moral issues that have direct relevance to 378
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disability and where differences in the experience of disability might be expected to have weight. To understand how having/being a different embodiment might affect individual moral subjectivity requires both empirical and phenomenological inquiry into the lives of disabled people and those associated with them, involving sociological, historical, ethnographic, psychological, political and other forms of empirical research. A greater knowledge of these features of disability would not only improve the normative and regulatory judgements that bioethics makes. It would also open up discussion of the ontological, social and ethical meaning of phenotypic variation, questions that Anglo-American bioethics has, in my opinion, so far failed to address adequately. This is important because, as Simi Linton notes, studying disability does not just expand our knowledge of impairment and its consequences. Disability ‘adds a critical dimension to thinking about issues such as autonomy, competence, wholeness, independence/ dependence, health, physical appearance, aesthetics, community and notions of progress and perfection’ (Linton 1998: 118), every one of which is an issue that bioethics routinely grapples with. Disability is an important topic not because it is a problem to be solved by medical or other means (although sometimes it is that), but because of its capacity to make us think differently, and harder, about the norms of bioethics.
Notes 1 An increasing proportion of the pathology-related genes identified are associated with predispositions to disabling conditions, raising difficult theoretical and practical questions about whether the possession of a characteristic genotype (the genetic makeup) in the absence of an effect on phenotype (morphology or function) counts as an impairment. 2 A degree of caution is necessary in using the term ‘the medical model’ of disability. There is more than one way of modelling disability in medical terms, and few clinicians adhere rigidly to a purely biological description of impairment’s impact on people’s lives. Nevertheless, it is a useful shorthand for a distinctive bias towards biomedical aetiologies and explanations. 3 I’m referring here to social and cultural forms of disadvantage, but a similar point can be made about biological ones too. In terms of natural selection it is normal, and preferable, for a population to show phenotypic variation. (Any real population that does not contain a stock of variety is actually in deep trouble, as it has no adaptive flexibility to draw on if its habitat changes.) Biologically, there are always phenotypic variations and at some point they will become maladaptive, as those organisms will not survive to reproduce as much as others. 4 We were told by the gatekeeper of a German impairment group that it was pointless trying to persuade any of its members to be interviewed. People with that impairment had suffered notably under the eugenic practices of the Third Reich, and since bioethics today was assumed to be similarly in favour of eugenics, all bioethicists were tainted by association. 5 Clearly, these arguments are applicable beyond prenatal genetic testing or donor insemination. They have also cropped up in the debate over giving cochlear implants to prelingually deaf children. In theory, cochlear implants have the potential to offer (a form of) hearing to profoundly deaf children who are unable to benefit from conventional hearing aids, an intervention that it is recognised ‘can determine community membership’ (Crouch 1997) (and by implication the futures open to the child).
References Anstey, K.W. (2002) ‘Are attempts to have impaired children justifiable?’ Journal of Medical Ethics, 28: 286–8. Asch, A. (2003) ‘Disability, bioethics and human rights’, in G.L. Albrecht, K.D. Seelman and M. Bury, Handbook of Disability Studies. Thousand Oaks, CA: Sage, pp 297–326.
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Asch, A. and Wasserman, D. (2005) ‘Where is the sin in synecdoche? Prenatal testing and the parent– child relationship’, in D. Wasserman, R.S. Wachbroit and J. Bickenbach (eds) Quality of Life and Human Difference: Genetic Testing, Health Care, and Disability. Cambridge: Cambridge University Press, pp. 172–216. Beauchamp, T.L. and Childress, J.F. (2008) Principles of Biomedical Ethics (sixth edition). Oxford: Oxford University Press. Benhabib, S. (2002) The Claims of Culture: Equality and Diversity in the Global Era. Princeton, NJ: Princeton University Press. Borry, P., Schotsman, P. and Dierickx, K. (2006) ‘Empirical research in bioethical journals: a quantitative analysis’, Journal of Medical Ethics, 32: 240–5. Buchanan, A.E. (1996) ‘Choosing who will be disabled: genetic intervention and the morality of inclusion’, Social Philosophy and Policy, 13: 18–46. Crouch, R.A. (1997) ‘Letting the Deaf be deaf: reconsidering the use of cochlear implants in prelingually deaf children’, Hastings Center Report, 4: 14–21. Crow, L. (1996) ‘Including all of our lives’, in J. Morris (ed.) Encounters with Strangers: Feminism and Disability. London: The Women’s Press, pp. 206–26. Davis, D. (1997) ‘Genetic dilemmas and the child’s right to an open future’, Hastings Center Report, 27: 7–15. Feinberg, J. (1992) ‘The child’s right to an open future’, in J. Feinberg (ed.) Freedom and Fulfilment. Princeton, NJ: Princeton University Press, pp. 76–97. Gallagher, H. (1995) By Trust Betrayed: Patients, Physicians and the Licence to Kill in the Third Reich. New York: Vandermere. Haimes, E. (2002) ‘What can the social sciences contribute to the study of ethics? Theoretical, empirical and substantive considerations’, Bioethics, 16: 89–113. Hedgecoe, A. (2004) ‘Critical bioethics: beyond the social science critique of applied ethics’, Bioethics, 18: 120–40. Holm, S. and Jonas, M. (eds) (2004). Engaging the World: The Use of Empirical Research in Bioethics and the Regulation of Biotechnology. Amsterdam: IOS Press. Hope, T. (1999) ‘Empirical medical ethics’, Journal of Medical Ethics, 25: 219–20. Jonsen, A.R. (1998) The Birth of Bioethics. Oxford: Oxford University Press. Kerr, A. and Shakespeare, T. (2002) Genetic Politics: From Eugenics to Genome. Cheltenham: New Clarion Press. Kittay, E.F. (2002) ‘On the expressivity and ethics of selective abortion for disability: conversations with my son’, in E. Parens and A. Asch (eds) Prenatal Testing and Disability Rights. Washington, DC: Georgetown University Press, pp. 165–95. Kuhse, H. and Singer, P. (1985). Should the Baby Live? The Problem of Handicapped Infants. Oxford: Oxford University Press. Levy, N. (2002) ‘Deafness, culture and choice’, Journal of Medical Ethics, 28: 284–5. Lindemann, H.L., Verkerk, M. and Walker, M.U. (2008) Naturalized Bioethics: Toward Responsible Knowing and Practice. Cambridge: Cambridge University Press. Linton, S. (1998). Claiming Disability: Knowledge and Identity. New York: New York University Press. Mackenzie, C. and Scully, J.L. (2007) ‘Moral imagination, disability and embodiment’, Journal of Applied Philosophy, 24: 335–51. Morris, J. (2001) ‘Impairment and disability: constructing an ethics of care that promotes human rights’, Hypatia, 16: 1–16. Mundy, L. (2002) ‘A world of their own’, Washington Post Magazine, 31 March. National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research (1979) Belmont Report: Ethical Principles and Guidelines for the Protection of Human Subjects of Research; online: www.hhs.gov/ohrp/humansubjects/guidance/belmont.htm Nelson, J. (2002) ‘The meaning of the act: reflections on the expressive force of reproductive decision making and policies,’ in E. Parens and A. Asch (eds) Prenatal Testing and Disability Rights. Washington, DC: Georgetown University Press, pp. 196–213.
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Neumann-Held, E. and Rehmann-Sutter, C. (2006) Genes in Development: Rereading the Molecular Paradigm. Durham, NC: Duke University Press. Oliver, M. (1990) The Politics of Disablement. Basingstoke: Macmillan. —— (1996) Understanding Disability: From Theory to Practice. Basingstoke: Macmillan. Parens, E. and Asch, A. (2002) Prenatal Testing and Disability Rights. Washington, DC: Georgetown University Press. Rehmann-Sutter, C., Düwell, M. and Mieth, D. (eds) (2006) Bioethics in Cultural Contexts: Reflections on Methods and Finitude. Dordrecht: Springer. Ryan, D.T. and Schuchterman, J.S. (eds) (2002) Deaf People in Hitler’s Europe. Washington, DC: Gallaudet University Press. Sarkar, S. (1998) Genetics and Reductionism. Cambridge: Cambridge University Press. Savulescu, J. (2002) ‘Deaf lesbians, “designer disability”, and the future of medicine’, British Medical Journal, 325: 771–3. Scully, J.L. (2002) ‘A postmodern disorder: moral encounters with molecular models of disability’, in M. Corker and T. Shakespeare (eds) Disability/Postmodernity: Embodying Disability Theory. London: Continuum, pp. 48–61. —— (2008) Disability Bioethics: Moral Bodies, Moral Difference. Lanham: Rowman and Littlefield. Scully, J.L., Rippberger, C. and Rehmann-Sutter, C. (2004) ‘Non-professionals’ evaluations of gene therapy ethics’, Social Science and Medicine, 58: 1415–25. Shakespeare, T. (1995) ‘Back to the future? New genetics and disabled people’, Critical Social Policy, 44: 22–35. —— (2006) Disability Rights and Wrongs. London: Routledge. Singer, P. (1993) ‘On being silenced in Germany’, in Practical Ethics (second edition). Cambridge: Cambridge University Press, pp. 337–59. Stein, M. (2006) Distributive Justice and Disability: Utilitarianism against Egalitarianism. Yale, NC: Yale University Press. Sugarman, J. (2004) ‘The future of empirical research in bioethics’, Journal of Law Medical Ethics, 32: 226–31. Thomas, C. (2007) Sociologies of Disability and Illness. Basingstoke: Palgrave Macmillan. Tong, R. (1997) Feminist Approaches to Bioethics: Theoretical Approaches and Practical Applications. Boulder, CO: Westview. Union of Physically Impaired Against Segregation (1976) Fundamental Principles of Disability. London: UPIAS. Walker, M.U. (1998) Moral Understandings: A Feminist Study in Ethics. New York: Routledge. Zussman, R. (2000) ‘The contributions of sociology to medical ethics’, Hastings Center Report, 30: 7–11.
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26 Ethical perspectives on animal biotechnology Mickey Gjerris, Anna Olsson, Jesper Lassen and Peter Sandøe
1 Is there anything new under the sun? In 1997 the Dorset ewe Dolly was presented to the world by a group of researchers led by Dr Ian Wilmut at the Roslin Institute in Edinburgh (Wilmut et al. 1997). A sheep normally does not give rise to headlines in media around the world, but Dolly did. She was a clone, supposedly a genetic copy of an adult animal. She was produced by taking a cell from the mammary gland of an adult sheep and fusing it with an egg cell from another sheep that had been emptied of the genetic material in the cell core. This produced a fertilised egg that was transferred to a surrogate mother and after a normal pregnancy Dolly was born: the first clone of an adult mammal (Wilmut et al. 1997) – something until then widely believed to be biologically impossible. Dolly was big news. Not only because of the scientific excitement, but also because of the perspectives her existence brought into focus. If sheep could be cloned, what about humans? The general agreement was that it was only a matter of time before the technical prerequisites to clone humans were available, but that this would be ethically wrong. What was not discussed in the media at that time was, however, what has so far turned out to be the most important use of the technology: cloning of animals for a wide spectrum of purposes. Ten years after the birth of Dolly, cloned animals are beginning to emerge from the labs and have come onto the market in different areas. And whereas there is still almost unanimous agreement that reproductive cloning of humans is ethically unacceptable, the opinions are much more diverse when it comes to animals. This diversity of opinions about animal cloning reflects general trends in discussions concerning other forms of animal biotechnology, the most important of which is the development of genetically modified animals. To gain an overview of these discussions of modern animal biotechnology, it is helpful to begin with one of the central questions: Are there any ethical issues specifically related to animal biotechnology, or are they the same as may be brought up in relation to traditional animal breeding? This question is almost always raised at talks about animals and bioethics at scientific conferences. ‘Is there anything special, anything new?’ What seems to be implied by those who raise the question is that if the presenter cannot come up with an ethical issue that is exclusive to that particular technology and that no other area raises, then 382
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there is no reason to pay attention to the presentation – it is just the same old problems and concerns and these can be adequately dealt with elsewhere. Sometimes it is even stated that it is unfair to place so much ethical focus on modern animal biotechnology when the concerns raised are so similar to those raised about more traditional ways of animal breeding, ways that are supposedly already socially acceptable. The question about novelty is the background for this article, because it is important to ask whether there is really anything new under the sun, and perhaps even more important to take note of the conclusions to be drawn from the answer to this question. If there are no ethical issues raised within animal biotechnology that cannot be found, at least to some degree, in other areas of animal use, is it then true that we need no longer concern ourselves with animal biotechnology, since these issues should be dealt with elsewhere – if they have indeed not already been solved? Or could it be that we as a society to a large extent have been ‘un-knowing’1 about what has been going on in farm animal breeding since it developed as a systematic enterprise in the first half of the twentieth century? It could be that animal biotechnology, instead of being redeemed because of its close connection to more traditional technologies, should be the occasion for us to reflect more critically about our use of animals, both in relation to biotechnology and in relation to farm animal breeding and other ways of controlling the biological functions of animals. To answer these questions we will try to give a systematic account of the most prominent concerns as they are expressed in sociological studies about public attitudes towards animal biotechnology and in the literature analysing the ethical issues in the area. Beforehand, however, we discuss the definition of animal biotechnology, and give a brief overview of the key ethical challenges. We then discuss some of these challenges, trying to identify their underlying understanding of animals and we critically discuss the widespread idea that concerns can be divided into science-based concerns and ethically based concerns (see, for instance, National Research Council of the National Academies 2002). In this chapter, all concerns, including the so-called science-based concerns, will be seen as having their roots in assumptions about ethical values. The difference between the two kinds of concerns thus, according to our analysis, is a difference related to values. At the end of the chapter modern biotechnology is discussed in relation to traditional forms of selective breeding. It is argued that the question about novelty is indeed a meaningful question and that most of the concerns of modern animal biotechnology are not new or radically different from those raised by selective breeding. However, from this observation one cannot conclude that animal biotechnology gives rise to no serious concerns. Rather, the conclusion should be that concerns about modern animal biotechnology might be extended to cover a wider range of issues and should be seen as a reason to develop a serious discussion of what it is ethically acceptable to do to animals.
2 What is it and what is it good for? Animal biotechnology can be defined in a number of ways. The definition used is crucial since it determines what should be considered a biotechnological novelty and what should be considered an established practice: a decision, as noted above, that carries a lot of assumptions into subsequent discussions. Thus some believe that only the new possibilities that have emerged from genetic engineering and cloning technologies should be categorised as animal biotechnology, while others include well-established breeding technologies 383
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such as artificial insemination and even some older breeding practices (US Food and Drug Administration 2006). There are various reasons for including as much, or as little, as possible under the heading ‘animal biotechnology’, but we shall not discuss the merits of the contrasting definitions here. We will just note that the more the new technologies are seen as a natural extension of well-established practices the more plausible the argument that there is little new under the sun becomes – thus, regulation can be based on existing regulation and ethical concerns are no different from those arising from already established technologies – and vice versa. In this article, we arrive at a fairly broad view of animal biotechnology, but we take as our starting point modern biotechnological applications such as genetic engineering and cloning. We are proceeding as outlined in order to demonstrate how the ethical debate about these novel possibilities might shed light on established practices within animal breeding. These established practices can be traced back to the rediscovery of Mendelian theories at the beginning of the twentieth century and the development of modern selective breeding practices from the 1920s onwards (Gjerris et al. 2006). Animal biotechnology has developed rapidly over the past 20 to 25 years. The production of genetically modified animals began in the early 1980s, and cloning took off with the experiments by Steen Willadsen in the mid-1980s in which cloned sheep were produced by embryonic cell transfer (Willadsen 1986). However, cloning technology first received public attention in 1997 when Dolly was introduced to the media. Most work within animal biotechnology has been carried out on laboratory mice, rats, sheep and cattle, but more recently these technologies have been adapted – with varying success – to other species such as pigs, goats, horses and cats. The goal of animal cloning is to reproduce as much of the genetic make-up from the original animal as possible. Ideally, cloning should produce an exact copy. However, genetically modified or ‘transgenic’ animals represent the attempt to use advanced biotechnologies to produce animals with a specific genetic alteration. There are several kinds of transgenic animals. For example, animals may have had their genome modified by having genes knocked out or copied, or they may have had genes not normally found in that species inserted into their genome. These genes can come from another species or may be artificial constructs (Houdebine 2005) Among the species of animals which have been genetically modified are pigs, sheep, goats, cattle, fish, rabbits and cats. The first and still widely used method for genetic modification is so-called pro-nuclear microinjection, where DNA is injected into the pro-nucleus of an early embryo. However, this method is not very efficient or precise, and a number of other methods for gene-transfer or gene-knockout have been developed. One of these methods makes use of cloning technology. Here, genetic modifications are made on individual cells from a cell-line. Afterwards a genetically modified cell is inserted into an enucleated egg and turned into an embryo by means of the cloning technique. New viral vectors and sperm-mediated DNA transfer that bring the desired genetic material into predesignated areas of the genome are other methodologies being developed. These technologies are likely to make the production of transgenic animals technically more efficient in the future (Robl et al. 2007). Cloning and transgenesis can be used for a number of potential applications. In the following, we focus on those most usually mentioned in scientific articles on animal biotechnology, some of which are in use already, while others are considered by researchers to be achievable in the light of anticipated scientific and technological expertise. One main type of application is in basic biology and applied biomedical research. Here genetically modified animals are produced to investigate the function of genes and gene 384
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products and to create animals that mimic human diseases such as cancer or Parkinson’s disease. The aim is to facilitate research into these diseases and to test possible treatments (Khanna and Hunter 2005; Emborg 2004; Swanson et al. 2004). Cloning also plays a role in this area, as a tool to produce the GM animals and to study abnormalities in reproduction (Olsson and Sandøe 2005). Other animals are used as bioreactors that produce biological compounds not naturally occurring in those animals (so-called ‘pharm animals’). Typically a gene of human origin is introduced in the animal genome. This might be done to cause the animal to produce a specific protein in its milk that can be used in producing medicine to cure or alleviate human disease (see Houdebine 2005). For example, the company GTC Biotherapeutics has produced a form of human antithrombin known as ATIII, on the basis of milk from genetically modified goats. This is the first, and so far only, pharmaceutical produced by means of genetically modified animals to be allowed on the market (Choi 2006). A third application involves animals used for production of meat, eggs, milk and other traditional animal products. The first commercial cloning of farm animals is expected to be for breeding purposes (Meyer 2005). Valuable breeding animals (such as elite bulls) could be cloned and used in breeding strategies to disseminate the most desirable traits. Moreover, animals could perhaps be genetically modified to increase productivity (growth rates, feedstuff utilisation, disease resistance, etc.), to develop new products (leaner meat, functional foods, etc.) or to reduce negative impact on the environment (Kues and Niemann 2004). Finally, there is a range of more or less ‘exotic’ applications of biotechnologies. The first genetically modified pet, the luminescent aquarium fish GloFishTM, hit the market in 2003. An American company, Genetic Savings and Clone, Inc., offered to save genetic material from pets and clone them later. The company only produced cloned cats and closed down in 2006, but there is reason to expect that when the technologies become more efficient, new companies will open up for business (Gjerris et al. 2006). There is also speculation that cloning may be used to save endangered species or recreate extinct species (Holt et al. 2004). Serious attempts to clone Bos gaurus, an endangered large wild ox, have been made but so far no successful results (in the form of viable animals) have been reported (Lanza et al. 2000). Other more fanciful projects in cloning, for example Tasmanian tigers and mammoths, are frequently reported in the media but no results of this kind have as yet been confirmed. It could be said that the applications of animal biotechnologies such as cloning and genetic modification are in principle limitless. Any genetically based trait in any living organism can be transferred to another living organism and any living organism can be cloned. To date, there seem to be two things preventing this from taking place: first, it is much more technically complicated than expected. As molecular biology and genetics has advanced, it has become more and more clear that biological systems, at the genetic level, are complex entities where the different parts are integrated into each other and changes induced one place in the system might trigger other possibly unwanted changes elsewhere in the system (e.g. Crawley et al. 1997). In addition, success rates of cloning remain low, and the root of these problems are still poorly understood (Vajta and Gjerris 2006). So, producing an animal with novel traits and/or producing a true clone of any desired animals has proven much harder and much more expensive than initially expected. Furthermore, there has been a grumbling scepticism about the use of biotechnologies on animals by the public. This has (especially for agricultural applications) placed limits on the usefulness of the technology: there is no reason to make a product that many 385
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consumers will reject because of the production methods. But to say that the public(s) in the western world are sceptical towards animal biotechnology per se is a gross over-simplification. We will therefore qualify this scepticism by examining the findings of studies into public attitudes towards animal biotechnology.
3 Sceptical about what? On the basis of quantitative and qualitative studies2 from the EU, the US and Japan it is possible to identify two general scales of importance in public attitudes towards animal biotechnology (Lassen 2005). These scales reflect attitudes of perceived usefulness and need as well as risk and ethical or moral problems. First, the opinions seem to be related the kind of organism involved. At the one end of this ‘organism scale’, we find human to beings as the most controversial organism to involve in genetic manipulation. Humans are followed by animals, and then plants, and finally micro-organisms are the least controversial organism. Second, the area of application makes up another scale of importance for public attitudes. At this ‘application scale’ we find medical uses at the least controversial end and food-related uses at the other, problematic end, with other applications occupying the space in between. On the ‘organism-scale’, animal biotechnology sits towards the controversial end, since its object is animals. On the ‘application scale’ the position depends on the purpose and application of the technology being considered. Taking both scales into consideration, one would expect to find animal biotechnology in food production to be controversial in all respects, since they combine the controversial issue of GM or cloned animals with food. On the other hand, however, public opinion is much less predictable when it comes to applications of animal biotechnology for medical purposes, since it largely depends on the existence of alternative treatments, and on perceived usefulness. Here it can be anticipated that applications that can be categorised as slightly more efficient replacements of traditional technologies will be met with considerable scepticism, whereas applications that represent an opportunity to enhance knowledge about serious human diseases or novel types of therapy will be received more positively. In general, public deliberations regarding animal biotechnology can be seen as an attempt to balance the positive results gained by developing and applying the technology against the risks and ethical problems that these different applications entail. From this perspective it becomes clear that the perceived usefulness of a given application becomes very important in the evaluation process, just as the risks to environment and health as well as seriousness of the perceived ethical problems become central. A very interesting question is whether ethical concerns can be ‘dismissed’ or ‘dealt with’ as long as the perceived usefulness is great enough, or whether ethical concerns can function as a ‘go no further’ sign, no matter what the usefulness. In other words, are there cases where the goal justifies the means and, put in opposite terms, are there means that are so problematic they cannot be accepted under any circumstances? The existing quantitative and qualitative studies offer no clear answer to these questions. On the one hand quantitative studies (Gaskell et al. 2000) have pointed to the existence of a moral veto. According to these studies, moral concerns outweigh other concerns: if an application is considered morally problematic, it simply cannot be accepted. On the other hand, qualitative studies are less categorical and point to the fact that the public require societal usefulness to accept an application – indicating that behind the ‘application scale’ is a scale of perceived usefulness. Towards the negative end of this scale we find usefulness in an 386
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economic or technical sense, i.e. when biotechnologies are useful in a corporate sense. At the opposite end of the scale is usefulness in societal sense, i.e. when applications are considered to address societal issues such as environment, health or hunger (Lassen et al. 2006a). The possible benefits of the technology were mentioned in the previous section. It is, however, debatable how realistic these different applications are. Some consider the commercial break-through of large-scale animal biotechnology in agricultural production systems very close; others believe that the technologies will play only a marginal role within agriculture in the foreseeable future, but play an important role in research and medical production (Gamborg et al. 2006). It is, of course, not without importance whether an ethical problem (such as the welfare problems of pigs used in the initial research into xenotransplantation) is to be weighed against statements that make claims about the imminent success of the technology or statements that stress the uncertainty of the research. There is a large element of interpretation in any technological extrapolation and it will most often be coloured by the interpreter’s attitude towards the technologies. Researchers are usually very positive regarding benefits and downplay the negative consequences. The opposite is true of those who wish to limit the technology. Unsurprisingly, it is hard to form an objective picture of the claims made about animal biotechnology, since most people making claims are stakeholders with a direct interest in the technology, as researchers, investors, activists, etc. This uncertainty also plays a role when evaluating the seriousness of ethical concerns, since both the probability of risks related to biotechnology and the seriousness of the ethical problems, as well as the kind and degree of usefulness, can all be interpreted in different ways. This uncertainty, however, does not prevent us from making a systematic overview of the ethical concerns expressed in quantitative and qualitative studies. How these different concerns can be taken into consideration in the societal debate will be discussed at the end of this article.
4 The context of ethical concerns When we worry about the ethical aspects of a technology, we do it against a background of our general values and outlook on life. One of the important tasks of philosophy and ethics is therefore to analyse and systematize ethical debates to illuminate their inherent conflicts and make clear which values are at stake and which life-views are in contention. In the following an ethical concern will be understood as a reason for having doubts about either specific applications of biotechnology on animals or animal biotechnology in general. A concern can thus be, for example, ‘I find it ethically problematic to genetically modify animals because the process often results in at least some animal suffering’ or ‘I find animal biotechnology ethically problematic because it is unnatural.’ Concerns like these are rooted in more basic values such as protecting the well-being of sentient beings or affecting nature as little as possible. These values are again rooted in the general world-view of the people holding them. It should be noted that all concerns, in the end, are based on values that cannot be explained or justified by the methods of science. Only when a value, e.g. human safety, has been determined as important in itself and it has been decided how the concepts as risks, safe and unsafe should be understood, is it possible to scientifically specify how any particular value should be instantiated, e.g. for a food product to be safe, and to measure whether the value is instantiated. Here scientific research can be set up to examine what risks are involved with such a technology. This means that although there will always be a question 387
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of scientific uncertainty and of the methodology of the research limiting the ‘objectiveness’ of the research; it is possible to use science to understand the extent and the nature of the risk. But the concern itself (that human life and health is ethically important), is not based on science but precedes scientific enquiry, just as our understanding of what constitutes a risk and how to handle it is a result of pre-scientific value judgements In the debate, the distinction is sometimes made between ‘science-based concerns’ and ‘ethical concerns’ (e.g. National Research Council of the National Academies 2002; Dawkins 1998). One might easily get the impression that the first set of concerns is somehow more legitimate, since they are based on science. But because the underlying value itself is not science-based, it would be wrong to make such a claim. The difference is not about the values themselves but about the possibility of using science to check whether the values are complied with. Thus, one important difference between a sciencebased concern such as human health and a non-science-based concern such as integrity is that you cannot set up an experiment looking for violated integrity in the animal. In conclusion: it does not follow that an ethical concern is more legitimate, because some of its implications can be checked through applying a scientific methodology. To understand the ethical concerns surrounding animal biotechnology, it is important to understand essential aspects of the underlying world-views that are at play when deciding whether and to what extent animals are given ethical importance. To some all animals are equally ethically important, to others only some animals are important, and to yet others animals are always subordinated to human needs. These values reflect in the discussions about animal biotechnology, are seldom explicated but are nevertheless crucial to understand to have a sensible debate about a specific application of technology on a specific kind of animal. To understand the question of who is given ethical consideration, it is helpful to view the world as divided into two different groups: ethical agents and ethical subjects (Gjerris 2001). Ethical agents are beings who can be said to have a responsibility for their actions. Ethical agents are, roughly speaking, mentally normally developed adult humans. Ethical subjects are the beings that ethical agents are obliged to take into ethical regard when deciding what to do. Ethical subjects are those beings who have some kind of value or meaning in themselves that makes it ethically problematic to use them without taking them into regard. In western culture many ethical subjects that are not ethical agents are acknowledged: children, mentally disabled, people suffering from dementia, etc. The important question in this context is: are animals ethical subjects?3 The answer to this question depends on the ethical values and world-view of whoever is doing the evaluation. And once the world has been divided into these two spheres it also needs to be decided whether the way of balancing the different entities in case of conflicts should be egalitarian or hierarchically oriented. That is to say, whether one can differentiate between (for instance) humans and animals and say that the former are more ethically important than the latter (and on what grounds), or whether one believes that the life of an orangutan is as important as the life of a human – in ethical terms. Having thus presented the context within which the ethical questions surrounding animal biotechnology arise, we will now look more closely at some of the most important concerns expressed in the discussion. 4.1 The ethical concerns for human health and the environment With regard to humans, the focus is typically on whether animals produced by biotechnologies such as genetic modification and/or cloning pose a risk to human health. Is 388
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it dangerous to drink milk from genetically modified cows or take medicine produced in the milk of cloned goats? Will the animals be carriers of new and contagious diseases or will the change in their genome in other ways be a risk for human health? Only a limited amount of research has been done in this area, but what has been done has shown no additional risks in comparison with most conventional produced animals and products (National Research Council of the National Academies 2002; Gamborg et al. 2006). However, it should be noted that in some cases it can be foreseen that the technology involves serious risks to humans, as in the case of xenotransplantation of pigs where the viruses dormant in the pig genome could be transferred to humans and possibly become active in the new environment, i.e. the human host organism. This could then give rise to a new emergent disease against which humans would have no natural defences. Notorious examples of emergent diseases transferred from animals to humans are the Spanish Disease, AIDS and SARS. In a worst-case scenario, just one xenotransplantation ‘gone wrong’ giving rise to a new disease could cause a pandemic (Fishman and Patience 2004). In most applications of animal biotechnology, however, it is hard to see how the technology could pose a risk to human health, even though it should be remembered that the degree of scientific uncertainty is rather high in this area, as is generally the case in emergent fields of research. Other concerns focus on the possible socio-economic changes that animal biotechnology could cause, especially if it is ever integrated large-scale into farming and food production. However, as the technology is not developed let alone introduced in this area, it is almost impossible to guess what will happen. Concerns that the technologies will strengthen the movement towards large-scale farming and could increase the divide between the developed and the developing world are not unrealistic if compared to what usually happens when new technology is introduced and what has happened within the sphere of plant biotechnology (Gjerris 2006). Another concern is that the continuing reification or commodification of nature (where nature is seen exclusively as a resource) will harden human ethical sensitivity in general, and thus cause ethical problems between humans as well. This argument has been brought forth against the unethical use of animals since the dawn of western philosophy, as for instance in the work of Thomas Aquinas (c. 1225–74; Aquinas 2001), and is closely connected to concerns that by turning what is strange and unknown into biological factories, humans loose sight of themselves as a living being that share the world with other living beings. The overall effect is a diminishing of the human life-world. Furthermore, we could also be concerned because a possible acceptance of the applications of biotechnology on animals may gradually change our view on these applications to the extent that we accept their use on humans. This so-called ‘slippery-slope argument’ seems to have been the basis of the first wave of concern regarding animal cloning when Dolly the cloned sheep hit the world media in 1997 (Brock 2001). In other words, the problem was not animal cloning (Point A) in itself – that was seen as ethically acceptable – but human cloning (Point B) that was seen as the outcome of an inescapable slippery slope. If animal cloning was accepted, human cloning was regarded as ethically unacceptable. Thus the argument goes that we should refrain from going to Point A (although it is perfectly acceptable to do so) because it automatically leads to Point B, where we definitely do not want to be. Some of the ethical concerns related to animal biotechnology focus particularly on the environment. One concern here is that the animals can escape and breed with wild 389
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populations, thus spreading their genes in an uncontrollable environment. The mostcited example here is transgenic fish, for example salmon with genetic alterations that allow for faster growth. The concerns in this area can be either about the indirect consequences this can have for humans, in this case economic losses for the fishing industry if such a transgenic fish would cause havoc to the wild species that are already under pressure from intense fishing, or direct concerns for the animals and the wider ecosystem (PEW Initiative on Food and Biotechnology 2003). With the exception of fish, individual animals produced by biotechnological methods are rather valuable and easy to confine, which makes it less likely that they will be a hazard for the environment. Here it is necessary to evaluate the animals case by case to see how they will possibly interact with the environment and whether this will be a threat to any ethical subjects. Another environmental concern is that of respect for nature, representing the view that changes in nature brought about by humans are unwanted, regardless of whether or not they pose a risk to humans. There is a feeling that the technologies are changing things that should not be changed and should be left untouched – a basic appreciation of nature in its ‘natural’ form. And while there is little on the planet that has avoided human influence, the development of biotechnology represents a very direct and brutal way of interfering with the environment to those who hold the view that nature should remain untouched. 4.2 The ethical concerns for animals The last kind of concern has to do with animal welfare. There are two kinds of concerns at stake in this debate. The first focuses on keeping animals healthy, avoiding pain and other kinds of suffering in the animals, and on promoting a positive environment: in general this conception focuses on the health and subjective experiences of the animal. Besides these considerations, the other and broader perspective also includes the animal’s opportunity to engage in essential species-specific kinds of behaviour (Fraser et al. 1997; Duncan and Fraser 1997; Appleby and Sandøe 2002; Rollin 1993). Biotechnology can affect animal welfare in different ways, as will be seen below. Biotechnology has been applied to animals mainly within biological research and to produce disease models. Usually the goal of modification is to produce animals that either under- or over-express certain genes, or that express a mutated, disease-causing human gene. In all these cases body function in the organism is in some way disrupted. In principle, modifications can involve any part of the animal genome, and the effects on the animal’s phenotype range from those that are lethal to those that have no detectable effect on the health of the animal. It is therefore impossible to generalise about the welfare effects of genetic modification (Olsson and Sandøe 2004). Effects can be divided into two main categories: the intended and the unintended. Welfare problems stemming from intended genetic change are hard to avoid, since the very point of inducing the change is to affect the animal. Thus, all mice carrying the human Huntington’s disease gene will, if they live long enough to develop the disease, suffer welfare problems, including rapid progressive loss of neural control leading to premature death (Olsson et al. 2007). Unintended effects are connected with the present inaccuracy of the technology and our insufficient understanding of the function of different genes in different organisms. Taken together, these factors mean that, at the phenotypic level, genetic modification is generally unpredictable. However, it is likely that at least some of the unintended welfare problems can be avoided as the technology and our 390
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scientific understanding develop. Regarding both unintended and intended consequences of genetic modification (for example, in creating a disease model), it may be possible to predict welfare consequences using information about the effects of similar modifications in other species, including the human disease symptoms. This potentially enables the producers of the animal to consider at least some of these consequences before the animal is actually produced (Dahl et al. 2003). The most significant welfare issue to emerge to date within animal biotechnology, however, is the low (0.1–20 per cent) success rates is animal cloning, and of the few individuals that are born, many suffer from impaired health and welfare. Problems include placental abnormalities, foetal overgrowth, prolonged gestation, stillbirth, hypoxia, respiratory failure and circulatory problems, malformations in the urogenital tract, malformations in liver and brain, immune dysfunction, lymphoid hypoplasia, anaemia, and bacterial and viral infections. Some of these conditions are brought together under the term Large Offspring Syndrome (LOS). LOS is often seen in cloned animals, but it also occurs in cases where animals are conceived by means of in vitro fertilisation. It is not yet clear whether the welfare problems experienced by cloned animals can be avoided through technological or methodological improvements or whether there are deeper epigenetic factors behind them (Vajta and Gjerris 2006). What is clear is that the technology seems to cause massive welfare problems as the animals are produced, whereas the animals that are successful clones do not suffer more than non-cloned animals. Turning back to the narrower perspective on animal welfare, it now becomes clear that most of the problems mentioned give rise to concerns, although only the health and subjective experience of the animal has ethical importance. From the broader perspective the question of animal welfare is also about the extent to which the animal is allowed to fulfil what can be called its species-specific potential, regardless of its subjective experience. Very often the broader perspective will point to an additional group of considerations that has to be taken into account when we reflect on animal welfare. Being concerned with the opportunity of the animal to engage in certain kinds of behaviour does not prevent one from caring about the subjective experiences of the animal. Nevertheless, occasionally these two kinds of consideration are difficult to reconcile in practice; in that situation it becomes important to clarify what kind of perspective is in play. Considerations within the narrow perspective regarding the subjective experiences of the animal might be outweighed by other considerations, included in the broader perspective. To illustrate the difference between the narrow and broad perspective we might look at how the welfare of battery hens and free-range hens is evaluated. While this example does not involve biotechnology, it clearly highlights the different perspectives at play. From a narrow perspective, there is no ethical objection to denying the animal the opportunity to follow its instincts (as battery cage egg production does) as long as this does not affect the subjective welfare of the animal – that is, lead to negative experiences (Appleby and Sandøe 2002). One can rarely prevent an animal from following its instincts without causing it suffering, but through breeding (either of the conventional sort or involving cloning and/or genetic engineering) changes could theoretically be induced in the animal that will make it more fit for the conditions under which it will have to live. And since this would have no negative subjective consequences for the individual hens, such a use of biotechnology would be seen as ethically unproblematic. This means that, for instance, the welfare problems caused by battery cage egg production could theoretically be solved through breeding chickens that did not suffer because 391
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of these conditions, rather than changing the conditions (Rollin 1995). In practice, though, it is difficult to see how this can become a reality in the foreseeable future. First, the trait to breed for would have a complex genetic background, since the objective must be an animal in which one has eradicated all motivations other than those that can be satisfied in a battery cage. Second, it will be a difficult challenge to ensure that one is indeed breeding for an animal with a restricted set of motivations rather than an animal that reacts passively, or even with apathy, to adverse conditions. This is not to say that breeding for behavioural traits cannot be used to improve animal welfare (problem behaviours such as feather-pecking in hens have indeed been shown to be under genetic control), only that the objective of producing what could be called an animal vegetable does not seem to be easily obtainable. From the broader perspective the very idea that we should breed hens to cope with battery cages raises serious worries and questions about what the natural life of a chicken is, and what experiences constitute such a life. Instead of changing the chicken, one would look for ways of allowing the chicken to fulfil its natural potential as far as possible through changes in the production system. Life as a free-range chicken is obviously less protected than life as a battery hen. Disease, feather-pecking and cannibalism occur frequently within flocks of chickens (Kjær and Sørensen 2002). Nevertheless, from a broader perspective this may be an acceptable situation, since it is counterbalanced by the fact that the chickens are living more naturally. Another concern within the broader perspective is that many of the new technologies extend control over procreation – a control that is already widespread within animal breeding through the use of semen collection, artificial insemination, superovulation, embryo transfer, transvaginal ovum pick-up, etc. This affects both the process (the sexual life of the animals) and the result (the offspring). In both cases it is questionable whether this interference is ethically acceptable, since all the technologies mentioned can, in very general terms, be described as unnatural when compared to the ‘normal’ life of animals. Secondly, however, the idea of naturalness as something valuable in itself raises questions about how naturalness should be understood. From animals used in basic research to farm animals bred for production, one can question if anything in their life is natural – at any rate, if ‘natural’ means wild. The question should perhaps rather be about the extent to which the domesticated animal has an opportunity to fulfil its species-specific behaviour within the framework that the domestication process has built. Thus a laboratory mouse will live its life in a cage, but it might nonetheless fulfil certain species-specific behaviour (for example, digging or nest-building) if given the chance. At this point it is necessary to distinguish between two different viewpoints within the broader animal welfare perspective. One where respect is aimed at the original genotype, and where deliberate changes of animals are seen as inherently problematic, and one where respect is aimed at whatever animals comes out of the process of breeding, and where the potential problems concern the development of ‘un-harmonic’ animals. To people taking the first viewpoint, the notion of deliberately breeding chickens that have such limited potential as to be content with life as a battery cage hen are seen as ethically problematic in ways that might outweigh the advantages of these ideas as perceived from the narrow perspective. Something just seems to be amiss when you deliberately produce an animal with less potential than normal (Lassen et al. 2006a), whether or not the animal has negative experiences as a result. Implicit in this version of the broader perspective is a certain respect for the natural state of the animal. Although it is intuitively compelling, it should be pointed out that this perspective suffers from an inherent ambiguity when 392
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domesticated animals are discussed, since it is almost impossible to point to a stage in the development of such animals that would constitute their natural state – i.e. the developmental point that should be respected (Appleby and Sandøe 2002). The ambiguity of the concept of biological naturalness is a leading reason why other thinkers have suggested a different way of considering animal welfare problems within the broader perspective. They believe that the natural behaviour of the animal is to be respected, but the natural behaviour of the animal is not seen as something static. And just as domesticated animals have been bred to be better adapted to housing in confinement in the past, through the selection of individuals that were most productive in a specific environment, animals today can be bred, either conventionally or through genetic modification, to be better adapted for modern-day production systems. Thus the fact that one can alter the nature of an animal by genetic modification does not constitute an ethical problem as long as one respects the nature that the animal ends up with (Rollin 1995). Whether we choose to look at animal welfare from a narrow perspective or one of the broader perspectives, two additional important issues must be borne in mind when evaluating the ethical dimensions of animal biotechnology. First of all, it is important to note that as far as consequences for the animals are concerned, the difference between traditional breeding technologies and the new biotechnological tools seems to be more about the number of welfare problems for the animals rather than about which kinds of problems. We will return to this point in Section 5. Another issue besides animal welfare is the issue of animal integrity which can perhaps best be understood as an inherent limit in the relationship between humans and nature governing what it is ethically acceptable for humans to do to animals. In other words, integrity is a limit based on an understanding or experience of animals as beings surrounded by an invisible border that may be transgressed only if the reasons are adequate from an ethical perspective (Gjerris 2006). It should be noted here that this is only a rough outline for one interpretation of the concept of integrity. Nevertheless, it should be clear that the idea of animal integrity both broadens the concept of animal welfare beyond the narrow perspective and rejects the notion that the naturalness of an animal is something that should only be respected in the individual animal – thus permitting humans to change the nature of animals in general, as discussed in the second version of the broader perspective. A related concept is the concept of dignity. Used in relation to humans it refers to the idea that just being human means that one has an ethical worth. Thus the German philosopher Immanuel Kant (1724–1804) juxtaposes Dignity with Price to underline the idea that every human has an inherent worth that is not dependent on the ‘value’ of the human in the eyes of other individuals or the society. The concept of dignity has been expanded by several thinkers in recent years to encompass animals. There are differences in the ways that the concepts of integrity and dignity are interpreted and used in the literature, but in this setting we will stay with the concept of integrity to avoid unnecessary conceptual complications. The balancing of commercial and scientific interests against the ‘interests’ of the animals raises a set of challenges. These challenges arise both for proponents of the broader approach (who will have to argue convincingly that a concept such as integrity should be respected) and in the political and regulatory process that follows in the wake of the different applications of biotechnology on animals. What is clear from a number of European surveys is that concepts such as integrity and naturalness play a significant and growing role in the general perception of legitimate use of biotechnology on animals (Lassen et al. 2006a). 393
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This situation could lead to a growing discrepancy between the very scientific and individualistic way of evaluating the ethical consequences of animal biotechnology that is implicit in risk-based studies of human health and animal welfare which have traditionally guided the regulatory process and a wider evaluation, involving notions of naturalness and integrity, or, in a very general way, to a growing discrepancy between the two notions of ethical concerns put forth in this article. As suggested, more general questions about the way in which animal biotechnology may contribute to change in the social world, about the possibility that animal cloning may facilitate reproductive cloning of humans, and about the perceived naturalness of the animals, are omitted in the scientific approach. This difference may also have a geographical and geopolitical dimension: where Europe and the EU are moving towards a broader understanding of animal welfare as the basis for regulation, the United States maintains a narrow understanding of animal welfare when it evaluates new biotechnology. This is evident in the emerging transatlantic discussion of the regulation of cloned animals and products derived from them or their offspring (Gamborg et al. 2006). Closer examination of what assumptions underlie the call for protection of the nature of animals could be a way of addressing some of these questions. These questions are usually dealt with rather superficially in the scientific literature, but they nonetheless play a significant role in forming public attitudes towards animal biotechnology (Lassen et al. 2006a, 2000b). The fact that concepts such as naturalness or integrity are complex and not readily quantified does not mean that they are inappropriate subjects for rational discussion. It just means that they have to be discussed within a broader context rather than a narrow scientific one. Any such discussion will reveal that there is more than one way to interpret such concepts. One way would be to claim that a concept such as integrity tries to capture the distinction between the knowledge of the animal that is expressed through our understanding of its usefulness to humans and the knowledge that is expressed in our immediate experience of the animal. A cow is a producer of hide, milk and meat; it holds no surprises when experienced from a human perspective, where the fulfilment of human need is at the centre. But in another perspective, where the cow is understood as something independent of humans – as a life form with its own needs, history and importance – it becomes clear that we do not know all there is to know about cows just because we know how to use them. There is something more to cows: something that in a sense alienates them from us and that should prevent us from reducing them to merely means to our ends. Implicit in this distinction is a notion of the amount of control over the animal that we can exercise without violating its naturalness or integrity. In this sense, respect for naturalness can be understood as the polar opposite of total reification of the animal as a natural resource. Although these notions are hardly of a scientific nature, they can be discussed meaningfully. They should not necessarily be dismissed offhand as either irrational or built upon elaborate religious or philosophical systems. They could also offer ways of describing very basic experiences of animals as something more than biological machines (Gjerris 2006).
5 So perhaps there is something new after all Sometimes those who are critical of cloning and other forms of animal biotechnology seem to imply that these technologies are problematic because they give rise to new 394
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kinds of problems (Midgley 2000; Chapman 2005). Defenders of animal biotechnology disagree and claim that there is nothing new under the sun. We continue to change animals to suit our own needs. Only the precision and effectiveness of the methods has changed (Kues and Niemann 2004). Hence animal biotechnology raises no unique ethical problems. As we have shown above, and as it has been argued in a number of publications in recent years (for example, Olsson and Sandøe 2004; Buehr et al. 2004; National Research Council of the National Academies 2002), the premises of the argument made by the defenders of animal biotechnology appear to be true in respect of the fact that most of the welfare problems associated with cloning and genetic engineering can be found in more conventional technologies too. Large Offspring Syndrome is not only a problem within cloning technology, but also when other kinds of biotechnology procedures are used (Vajta and Gjerris 2006). The welfare problems that may arise from depriving animals of their natural procreative activity are also linked to other technologies. Welfare problems may also occur as a consequence of selective breeding programmes, as for instance when an excessively narrow focus on productivity leads to leg disorders in broiler chickens, or to increased levels of mastitis in cows (Olsson and Sandøe 2004). Finally, the way that cloning and/or genetic modification violates the integrity of the animals, as the concept of integrity is understood here, seems not to be very ingenious, but rather clear continuation with already established practices which treat the animals only as a resource for human consumption. Ironically enough, the most striking difference between the old and the new technologies may be uncertainty about the unintended side-effects in the latter, and especially with genetic engineering, since this contradicts the biotechnologist’s claim that biotechnology basically achieves the same ends as more conventional breeding practices, just with much more precision, since they only move a few well-defined genes around whereas other practices entail mixing whole genomes. However, it is not possible to dismiss criticism of animal biotechnology merely by pointing to the similarities between earlier and new uses of animal technology. The problem with this argument is that people will not necessarily have accepted the older techniques. Members of the public are largely unaware of the consequences of selective breeding. In general they are critical of confined housing systems, but in reality they were consulted on neither of these matters. We would therefore like to reverse the argument: public worries about new biotechnologies, and the genuine ethical concerns into which they can be translated, should be seen as a reason to critically analyse not only new biotechnologies but also existing technologies, and as a trigger for serious discussion of the limits to what it is ethically acceptable to do to animals (Olsson and Sandøe 2005). Animal biotechnology might not be something radically new, but it can be the straw that breaks the camel’s back (Cooper 1998). What is evident today is that ethical questions raised about the regulation of the new biotechnologies used on animals are not concerned only with the question of welfare understood as good health and absence of suffering. Today, all parties in the debate agree that there are limits to the amount of physical pain or mental stress that it is ethically justifiable to impose on an animal. But it is also becoming more and more widely recognised that other factors should influence the way we treat animals. These factors include the preservation of the naturalness of the animal, and the importance of giving an animal the opportunity to fulfil its species-specific potential. Such factors are becoming increasingly prominent within the regulatory debate. Of course, they are especially conspicuous when no traditional welfare problems are at stake. 395
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Notes 1 Perhaps deliberately unknowing in the way discussed by J.M. Coetzee in his provocative essay The Lives of Animals (Coetzee 1999) where we are accused of deliberately closing our eyes to and forgetting about the suffering we induce in animals to reach our own goals. 2 Quantitative studies, such as surveys, display data on the distribution of perceptions in a population based on representative samples. The strength of quantitative studies lies in their ability to characterise opinions in a population, and to show how opinions about different issues relate to each other or to demographic characteristics, their weakness lies in their inability to account for in-depth knowledge of the arguments behind the different opinions. Qualitative studies, such as focus groups or individual interviews, complement quantitative studies by offering in-depth information about the nature of public opinion – e.g. information about prominent kinds of argumentation and discourse. Due to the relatively small population, qualitative studies suffer from a lack of statistical representativity. Hence a combination of qualitative and quantitative data will often provide the best picture of public opinion. 3 Much ethical debate has at its core the question of who and what should be taken into account. All positions on the spectrum can be found, from egoism, where only the individual is an ethical subject, to holistic ethics of nature where everything in existence is an ethical subject.
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Gamborg, C., Gjerris, M., Gunning, J., Hartlev, M., Meyer, G., Sandøe, P. and Tveit, G. (2006) Regulating Farm Animal Cloning. Recommendations from the Project Cloning in Public. Danish Centre for Bioethics and Risk Assessment. Gaskell, G. et al. (2000) ‘Biotechnology and the European public’, Nature, 18: 935–8. Gjerris, M. (2001) ‘Sårbarhedens pris. En kritik af antropocentrismen’, in L.D. Madsen and M. Gjerris, Naturens sande betydning – om natursyn, etik og teologi. Copenhagen: Multivers. —— (2006) Ethics and Farm Animal Cloning. An Examination of the Risks, Values and Conflicts Related to Farm Animal Cloning. Copenhagen: Danish Centre for Bioethics and Risk Assessment. Gjerris, M., Olsson, A. and Sandøe, P. (2006) ‘Animal biotechnology and animal welfare’, in Council of Europe (ed.) Ethical Eye – Animal Welfare. Strasbourg: Council of Europe. Holt, W.V., Pickard, A.R. and Prather, R.S. (2004) ‘Wildlife conservation and reproductive cloning’, Reproduction, 127: 317–24. Houdebine, L.M. (2005) ‘Use of transgenic animals to improve human health and animal production’, Reproduction in Domestic Animals, 40, 4: 269–81. IFIC (2005) ‘US consumer attitudes towards food biotechnology’, food biotechnology survey questionnaire 6/1/05–3, Wirthlin Group Quorum Surveys. Khanna, C. and Hunter, K. (2005) ‘Modeling metastasis in vivo’, Carcinogenesis, 26, 3: 513–23. Kjær, J.B. and Sørensen, P. (2002) ‘Feather pecking and cannibalism in free-range laying hens as affected by genotype, dietary level of methionine + cystine, light intensity during rearing and age at first access to the range area’, Applied Animal Behaviour Science, 76: 21–39. Kues, W.A. and Niemann, H. (2004) ‘The contribution of farm animals to human health’, Trends in Biotechnology, 22, 6: 286–94. Lanza, P., Cibelli, J., Diaz, F., Moraes, C., Farin, P., Farin, C., Hammer, C., West, M. and Damiani, P. (2000) ‘Cloning of an endangered species (Bos gaurus) using interspecies nuclear transfer’, Cloning, 2, 2: 79–90. Lassen, J. (2005) Public Perception of Farm Animal Cloning – A Picture of the European Opinion to Farm Animal Cloning, Considering Biomedical and Agricultural Applications. Copenhagen: Danish Centre for Bioethics and Risk Assessment. Lassen, J., Madsen, K.H. and Sandøe, P. (2002) ‘Ethics and genetic engineering – lessons to be learned from GM foods’, Bioprocess and Biosystems Engineering, 24: 263–71. Lassen, J., Gjerris, M. and Sandøe, P. (2006a) ‘After Dolly – ethical limits to the use of biotechnology on farm animals’, Theriogenology, 65, 5: 992–1004. Lassen, J., Sandøe, P. and Forkman, B. (2006b) ‘Happy pigs are dirty! Conflicting perspectives on animal welfare’, Live Stock Production Science, 103: 221–30. Meyer, G. (2005) Why Clone Farm Animals? Goals, Motives, Assumptions, Values and Concerns among European Scientists Working with Cloning of Farm Animals. Copenhagen: Danish Centre for Bioethics and Risk Assessment. Midgley, M. (2000) ‘Biotechnology and monstrosity. Why we should pay attention to the “yuk factor”’, Hastings Center Report, 30, 5. National Research Council of the National Academies (2002) Animal Biotechnology. Science-Based Concerns. Washington, DC: National Academy of Science, USA. Naver, B., Stub, C., Moller, M., Fenger, K., Hansen, A.K., Hasholt, L. and Sørensen, S.A. (2003) ‘Molecular and behavioral analysis of the R6/1 Huntington’s disease transgenic mouse’, Neuroscience, 122: 1049–57. Olsson, I.A.S. and Sandøe, P. (2004) ‘Ethical decisions concerning animal biotechnology: what is the role of animal welfare science?’ Animal Welfare, 13: 139–44. —— (2005) ‘Biotechnology and the animal issue’, in L. Landeweerd, L.M. Houdebine and R. ter Meulen (eds) BioTechnology-ethics – An Introduction. Florence: Angelo Pontecorboli Editore. Olsson, I.A.S., Hansen, A.K. and Sandøe, P. (2007) ‘Ethics and refinement in animal research’, Science, 317: 1680. PEW Initiative on Food and Biotechnology (2003) Future Fish. Issues in Science and Regulation of Transgenic Fish. Washington, DC: PEW Initiative on Food and Biotechnology.
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Robl, J.M., Wang, Z., Kasinathan, P. and Kuroiwa, Y. (2007) ‘Transgenic animal production and animal biotechnology’, Theriogenology, 67: 127–33. Rollin, B.E. (1993) ‘Animal production and the new social ethics for animals in Purdue Research Foundation’, in Food Animal Well-being. Conference Proceedings and Deliberations. West Lafayette, IN: US Department of Agriculture and Purdue University Office of Agricultural Research Programs. —— (1995) Frankenstein Syndrome: Ethical and Social Issues in the Genetic Engineering of Animals. Cambridge: Cambridge University Press. Swanson, K.S., Mazur, M.J., Vashisht, K., Rund, L.A., Beever, J.E., Counter, C.M. and Schook, L.B. (2004) ‘Genomics and clinical medicine: rationale for creating and effectively evaluating animal models’, Experimental Biology and Medicine, 229, 9: 866–75. US Food and Drug Administration (2006) Animal Cloning: A Draft Risk Assessment. Rockville: USFDA. Vajta, G. and Gjerris, M. (2006) ‘Science and technology of farm animal cloning: state of the art’, Animal Reproduction Science, 92: 210–30. Willadsen, S.M. (1986) ‘Nuclear transplantation in sheep embryos’, Nature, 320: 63–5. Wilmut, I., Schnieke, A.E., McWhir, J., Kind, A.J. and Campbell, K.H. (1997) ‘Viable offspring derived from fetal and adult mammalian cells’, Nature, 385: 810–13.
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Section Six Diversity and justice
27 Introduction Barbara Katz Rothman
It seems appropriate to come to this topic of diversity and justice towards the end of this book, as we wrap up the exploration of what has happened in genetics and society, and before we turn to the future, the newly arising forms of producing and using genetic knowledge. Questions of diversity and justice are pragmatic: they are of the ‘so what?’ variety. And so it made sense that the book began with a presentation of ‘here’s what can be done’ (biomedical applications of the new genetic technologies), and moved to ‘follow the dollar’ (or pound or euro or yen) as it looks at the commercialisation of the technologies. Then the book turned to how these technologies are (re)presented, the images we construct and the stories we tell ourselves. At that point, the desire for a guiding hand begins to come in: wait! What shall we do? And so the book offered a discussion of regulation (legal control) and bioethics (moral or ethical hand-wringing about how little we actually can do and are doing, given all those biomedical and economic pressures). And now, most of the way through, it is time to step back a bit, and see what are the social, political, historical implications of all this work, what this is like ‘on the ground’. This ordering could work for a book on just about any science and society topic: new sciences and technologies come along, and we – social scientists, ethicists, legal scholars, lay people, all of ‘us’ outside of the science – stop, marvel, wonder and worry. Similar issues arose with very early biomedical technologies, (anaesthesia, early surgeries) with more recent, higher-tech interventions (organ transplants, artificial life-support, mood/ consciousness-altering drugs) and are clearly bearing down on us with the new neurosciences. Each science and technology step forward brings us ordinary people to a new vantage point, a new moment to reconsider who we are and what we are doing, what it means to be a human being. But the genetic sciences hold a particularly fraught position with regard to these questions: genetics has been notoriously implicated in questions around social inequality and injustice. Any student of this past century’s history can see that genetics is not just one more wave of science: it has been a tsunami, swirling, tossing and creating unthinkable horror. Genetics has a social form, ‘eugenics’, a set of social reasonings and power relationships that other sciences do not have. Other sciences do, absolutely, get used for evil purposes, by good and by evil people – but they have managed to keep the 401
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underlying philosophy separate from the uses. Physics remains a neutral science in the popular imagination, even as most of us grew up under the shadow of annihilation by the atomic bomb. The other biomedical technologies manage to separate their science from their practice: the very logic of organ transplants is not what people now see as dangerous, but the potential misuse of the technology does – reasonably – worry people. Not quite the case with genetics: it is a constant struggle for geneticists to separate out what they are doing from the logic of eugenics. The blurring and intertwining of boundaries has been a problem from the start for the new genetics: how to reclaim science from its unthinkably unsavoury past. The point at which the new genetics seeks to distance itself from older genetic policies is over the issue of autonomy: the older versions, known as ‘eugenics’, involved state intervention in the form of coercion. New policies are all about autonomy. Thus control confronts autonomy as the new genetics supplants the old eugenics, and blame moves from the state to the individual for bad decisions. Some, like Ruth Cowan (2008) claim that it is coercion itself that defines the old eugenics – if people are not being forced to use the technologies such as prenatal diagnosis and selective abortion, not forced to abstain from procreating ‘bad genes’, then it simply isn’t eugenics but choice, glorious choice. Others of us are far from convinced that force was ever the hallmark of the old eugenics.1 And some of us deconstruct the notion of ‘choice’ and find it sadly lacking.2 Choice is a market concept, not well suited to understanding complex life decisions.3 But the situation is that in a liberal society, the measure of adult competence has become the ability to make autonomous – yet ‘objectively rational’ – decisions. Within this definition comes the problems that haunt us in the new genetics: to be considered ‘rational’, such decisions must rely on commonly held, socially appropriate understandings of risk. How can one be ‘rational’ if one’s reasoning starts from faulty premises? The construction of the ‘reasonable’ view of the ‘facts’ becomes one of the ways that choices are constrained. Thus an understanding of how the science is presented, all the work that made up the first chapters of this book, in its biomedical potential, in its media imagery, in its ethical and judicial framing, shows us how social forces shape the ‘choices’ that individuals then ‘reasonably’ make. The shift, to the extent that there is one, in the change from the old eugenics to the new genetics, is a shift from state power to personal ‘choice’ as the mechanism of control of the uses of the technology. This new genetics, and its claim to purity from the taint of the old eugenics, rests on an assumption of freely choosing individuals. So on the one hand, as just discussed, the ways that the new genetics are framed themselves frame the possibilities of rational decision-making. But there are also issues about not only the process but the decision-makers. The language of control and autonomy inevitably opens up for us the issues of differential placement of individuals, the questions of diversity and justice. If autonomy is a measure and a right of ‘adult competence’, what of all those who confront the new genetics as other than competent adults? What of those who are competent but have not the wherewithal to exercise their autonomy? Those who are in (familial) relationships that constrain their decision-making even where the state does not? Those who are too sick, too young, too poor, those who have been marginalised in any of the many ways modern society excels in marginalising its members: where do they stand as the old controlling eugenics history confronts the privileged autonomy of the new genetics? Coming at it from a variety of perspectives, from the history of eugenics, from the ways that ‘diversity’ is (re)constructed in the new genetics, from the ethical 402
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understanding of the individual and dignity, from the political construction of ‘diverse peoples’ in the entanglements of faith and nationhood, the papers in this section attempt answers at these questions of reconciling liberal society’s value of individual choice, with individual experiences of social control.
Notes 1 See, for example, the work of Jonathan Marks, and the recent correspondence between Ruth Schwartz Cowan and Marks in the letters of the Chronicle of Higher Education, Chronicle Review, 13 June 2008, p. B25. 2 This has been the major thrust of much of my own work on genetics. See, for example, Rothman (2001). 3 The problems of ‘choice’ as a political argument have finally reached popular discussion. See Sarah Tsing Low (2008).
References Cowan, R.S. (2008) Heredity and Hope: The Case for Genetic Screening. Cambridge, MA: Harvard University Press. Marks, J. (1995) Human Biodiversity: Genes, Race and History. Berlin: Aldine DeGruyter. Rothman, B.K. (2001) The Book of Life: A Personal and Ethical Guide to Race, Normality, and the Implications of the Human Genome Project. Boston, MA: Beacon Press. Tsing Low, Sarah (2008) ‘I choose my choice’, Atlantic Monthly, July/August: online: www.theatlantic. com/doc/200807/working-moms
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28 Religion and nationhood Collective identities and the New Genetics Barbara Prainsack and Yael Hashiloni-Dolev
1 Religion, nationhood, and ‘culture’: on collective identities Many authors before us have failed to provide concise definitions of the concepts of religion and ‘nationhood’, as well as of the connection between them.1 On the one hand, this could seem startling, as it is those two terms which are seen by many people as crucial factors in determining the central organisational units of political and social life and statehood, as well as for the biggest wars of the last centuries. On the other hand, if religion and nationhood do indeed play crucial roles in shaping collective (as well as individual) identities, then it might not be so surprising at all that they represent a moving target. Boundaries are established in interaction with other agents (in other words, through their engagement with the world), and thus are never fixed but fluent. In what ways can religion and nationhood be seen as such ‘crucial points of reference’ for the establishment of individual and collective identities (commonly described as understandings of who and what we are, as individuals, and as parts of larger social and political entities)? While older (‘essentialist’, as we have learned to call them) approaches to understanding nationhood emphasise shared history, language, and ‘culture’, more recent approaches, informed by anthropology, ethnography, and cultural studies, conceptualise nationhood as ‘imagined communities’ (Anderson 1983; see also Smith 2000). The word ‘imagined’ does not indicate that these communities are unreal, but rather that the sense of belonging among its members is not based on actual physical face-to-face encounters and personal bonds but on the understanding that the lives of a particular group of people revolve around a common centre. As an effect, loyalties between members of such ‘imagined communities’ are stronger than those between community insiders and outsiders. This sense of belonging among people who have never met each other in person emerges, according to Benedict Anderson (1983), through mass media enabling people to conceive of, and relate to, the simultaneous existence of fellow human beings living far away (both in place and time). A typical example for this enabling mechanism would be the modern novel (or, nowadays, all mass media, print and electronic).2 Anderson’s concept of ‘imagined communities’ can also be used as an explanation for why some people are willing to lose their lives for the land of their 404
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forefathers and -mothers (who are not their immediate biological ancestors) and fellow countrymen and -women (most of whom they have never met). Anderson’s work on ‘imagined communities’, however, predates the age of the ‘hegemony of the gene’ (Finkler 2000). The core question of this chapter will be: have the New Genetics and Genomics influenced the ways in which we think and act religious and ‘national’/’ethnic’ belonging into being? ‘Race’, ‘ethnicity’ and the New Genetics Partly triggered by the hype around the International Human Genome Project, in the last 20–30 years, scholars in the social sciences and humanities have devoted considerable attention to the question of how research and applications in the field of genetics (and later on, genomics) impact on individual and collective identities, both by modifying them and by reinforcing particular conventional understandings of how human beings can be categorised into particular groups (Ahmad and Bradby 2007; Shakespeare 1995). Abby Lippman famously coined the term ‘geneticisation’ to signify an ‘ongoing process by which differences between individuals are reduced to their DNA codes … [and] interventions employing genetic technologies are adopted to manage problems of health’ (Lippman 1991: 19). Other authors extended and specified this concept to particular ideas and practices such as selfhood (Rose 2001; Novas and Rose 2000), citizenship (Heath et al. 2004; Rose and Novas 2004; Petersen and Bunton 2002; see also Petersen 2006), or even ‘life itself’ (Franklin 2000; Rabinow 1999; Rose 2006; Lily Kay [1993] called it the ‘molecular vision of life’; see also Brown and Webster 2004; Glasner 2004; Glasner and Rothman 2004).3 In the same vein, Kaja Finkler argued that concepts as fundamental as ‘family, kinship, memory and temporality’ (Finkler 2005; see also Finkler et al. 2003; Strathern 2005; Carsten 2003; Nash 2002; Feinberg and Ottenheimer 2001; Franklin and McKinnon 2001; Edwards 2000; Carsten 2000; Dolgin 1997) have been deeply affected by the new ‘hegemony of the gene’ (Finkler 2000).4 The same argument was made with regard to ‘ethnicity’ and ‘race’ specifically (Skinner 2006: 459): ‘The new biology challenges existing notions of relatedness, personhood and the nature/culture distinction, and is altering the terrain over which race is discussed.’ After ‘race’ as a concept had emerged in sixteenth-century Europe when ‘“the forms exclusion could assume” radically changed from those that characterized the medieval Christian world’ (Abu El-Haj 2007: 285, quoting Goldberg 1993: 8), it became molecularised in the early twentieth century (Kay 1993; see also Nelkin and Lindee 1995).5 As Pálsson (2007b: 258) argues, “[o]bvious’ phenotypic traits such as skin colour were now seen as surface differences providing trivial if not misleading information about the deeper realities of the human body’ (see also Skinner 2006; Waldby 2000). Troy Duster’s (1990, 2001, 2003) and more recently also Adam Hedgecoe’s (2004) work explicitly addresses questions of classification and categorisation of individuals on a genetic/molecular basis. Jenny Reardon’s (2005) and Amade M’charek’s (2005) books on the Human Genome Diversity Project (HGDP), which had been originally proposed in 1991 (Cavalli-Sforza et al. 1991) in order to explore the genetic diversity of the human species,6 depict very clearly the scientific, societal and political difficulties involved in attempting to break up collectives of people into neatly defined ‘ethnic’/‘racial’ subgroups; the HGDP was practically put on hold by controversies over group consent and what constitutes ‘groupness’ (see also Pálsson 2008b; Gannet 2001; Juengst 1998; Haraway 1996). In sum, however, ‘race is back on both scholarly and pragmatic agendas’ 405
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(Pálsson 2007b: 257; see also Pálsson 2007a); the particular directions which genetic and genomic research have taken in the last decade7 have reinforced this trend. As Reardon (forthcoming) points out, current genomic practices – such as genetic ancestry testing, which provides customers with seemingly ‘scientific’ information on their genetic admixture – might facilitate old and new forms of discrimination: For example, by divulging information about ‘African’ ancestry to people who grew up ‘white’, those individuals may be able to claim benefits which are meant as compensation for victims of crimes which are not part of the family history of the claimant. As Reardon (forthcoming) argues: ‘Genomics … may play key roles in an already ongoing process by which social struggles to counteract racism are replaced by individual efforts to negotiate entrance into racial categories for the purpose of securing resources.’ By suggesting providing a ‘scientific’ foundation for racial and ethnic attributions, such tests seem to pervert attempts to decrease the power differential between groups which have traditionally populated more privileged places in society and those who have not. Predicting that genetic characteristics may become core points of reference for group formation and collective identities in the near future, Paul Rabinow put forward the concept of biosociality in the early 1990s (Rabinow 1996, 1992). Unlike in the era of socio-biology, where social factors were sought to be improved to create a better biology (for example, by the use of compulsory education to achieve ‘brighter’ people) the opposite would be the case in the future: Biology itself would become a target of intervention and manipulation to create a better sociality. In this process, which would also blur further the boundaries between ‘the social’ and ‘the natural’, genetics and genomics would play a novel role in ‘making’ collectives through a newly defined marriage between the social and the biological (see also Rose 2006; Pálsson 2008a; Gibbons and Novas 2007; Hacking 2005, 2006). Is ‘race’ ‘real’? Social science and life science perspectives Scholars in the fields of STS and medical sociology and anthropology are virtually unanimously critical towards the ‘biologisation’ of collective identities, or the ‘essentialisation’ of national or ethnic identities, fearing its grave political consequences (see Fulwiley 2007; Skinner 2006; Ellison and Goodman 2006; Duster 2005a, 2005b, 2005c; Fausto-Sterling 2004; Caspari 2003; Wacquant 1997;8 for a very good overview, see Abu El-Haj 2007; Egorova 2007. For a philosophical perspective see Gannett 2001, 2004. Critical: Sarich and Miele 2004). The situation in medical and life science literature is more diverse. While some authors regard all ‘population thinking’ in the context of human population genetics as scientifically unsound (for example, Barbujani and Belle 2006; Pearce et al. 2004; Long and Kittles 2003; Bamshad et al. 2004; Graves 2004; Cooper et al. 2003; Schwartz 2001; Witzig 1996) and contributing to racism, or representing a new sort of racism (Lewontin 2005; Collins and Mansoura 2001; critical: Edwards 2003), others contend that the category of ‘race’ in genetic research, however defined, is a necessary and practical compromise (Tang et al. 2005; Rosenberg et al. 2002; Risch et al. 2002; Kalow 2001). Rather than suggesting avoiding the concept of ‘race’ entirely, they call for a careful definition and use (Sankar and Cho 2002; see also Collins 2004; Daar and Singer 2005; Abu El-Haj 2007). Amand Leroi (2005), an evolutionary biologist at Imperial College, made a passionate call for the maintenance of the concept of ‘race’ in the New York Times: ‘Race is merely a shorthand that enables us to speak sensibly, though with no great precision, about genetic rather than cultural or political 406
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differences’ (see also Hartigan 2008). In sum, especially the celebration of the end of ‘race’ by many scientists and science writers (Wadman 2004; Schwartz 2001) after the announcement of the completion of the sequencing of the first human genome in 2000 seems to have spurred a strong counter-reaction from others who insisted that ‘race’ was still, to some extent, a valid category (Burchard et al. 2003; Satel 2001; for an overview of these debates, see Hartigan 2008; Koenig et al. 2008). In this chapter we will look at different cases in which scientists have been trying to engage genetics to ‘verify’ or ‘falsify’ particular collective identities, and we will examine their practical political consequences. Have collective identities been modified in any way by the new genetic knowledge, and if yes, how? Moreover, have new political or social rights or duties followed from the new genetic ‘evidence’ of individual and collective belonging? Before we embark on this endeavour, we will take a brief look at what expectations have been placed upon different scientific (and pseudo-scientific) disciplines with regard to determining and diagnosing differences between sub-groups of human beings. Determining the nation in the body It is probably because of the fluidity of concepts such as ‘religion’, ‘ethnicity’ and ‘nationhood’ that human history has entailed various attempts to find standards to ‘verify’ or ‘falsify’ them, as well as claims of individuals/families/tribes to belong to a particular nation or religion. Craniometry, based upon measurements of the skull (sometimes wrongly conflated with phrenology, which focused on the study of character), anthrometry and late nineteenth- and early twentieth-century anthropology (which in German was called Rassenkunde, ‘raceology’) are well-known examples (Allen 2004; Tekiner 1991; Cooter 1984). However, also less openly suspicious disciplines such as dactyloscopy (the analysis of fingerprints) devoted themselves to discerning differences not only between groups of delinquents but also between races. For example, it was argued that Jews displayed different fingerprint patterns than other groups (Cole 2001: 106). In this light, it is rather unsurprising that also genetics has been confronted with the task of determining race as well (with counter-movements in the past and in the present; see Tekiner 1991; UNESCO 1961; Shapiro 1939). Genetics was expected to deliver particularly conclusive results in this context as it was seen as capable of delivering a deeper (literally) insight into the substance of the body, permeating not only the skin (as autopsy did), but also the boundary of the cell. What could be more truthful than what the body reveals at its core?9 Just as the discourse on ‘racial’ and ‘ethnic’ belongings of individuals has shifted from emphasising purity (‘true race’; Abu El-Haj 2007: 290) to one revolving around ‘admixture’ (that is, determining the particular ‘mixture’ of an individual’s heritage by looking at her genes), DNA has taken over the role of telling our family histories.10 In the context of religious and national/‘ethnic’ belonging, our DNA has started to assume the role of an ‘identity card’ (see Aas 2006: 148; Skinner 2006). This chapter concludes with the argument that there is need for a recall. Bleeding identities As religion and nationhood are seen as – at least to some extent – being ‘in the blood’, genetics was expected both (a) to establish the determinants of ethnicity and religion (two categories which often overlap), and (b) to determine whether particular individuals 407
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or groups fit into a particular ethnic and religious category. Glasner and Rothman (1998) coined the term ‘genetic imaginations’ to signify the linking of biography, history and society in the era of the Human Genome Project (see also Simpson, 2000).11 Glasner and Rothman’s term adds to Anderson’s (1983) concept of ‘imagined communities’ the dimension of genetic simultaneity in the sense that not only those who inhabit the same delineated political area as we do, and who believe in the same God (or gods) as we do, belong to us, but also those whose physical materiality is imagined to resemble ours in relevant characteristics. In an era where the most sophisticated way to understand the ‘substance’ of physical materiality is considered to be genetic (and epigenetic; see Baylin and Schuebel 2007), it is information obtained from ‘reading’ somebody’s genes which is often seen as an indicator for belonging (or its absence) to such a group. This is what ‘the ‘geneticisation’ of ethnicity’ (Simpson 2000: 5) signifies: Genes are seen to ‘make’ belonging and therefore are expected to ‘prove’ or ‘disprove’ it when examined. The following section will provide examples for different ways in which genetics has been used for such purposes. In our first example, DNA analysis has confirmed the foundation myths of an African tribe by ‘confirming’ that they are a Semitic people. The second example tells the story of how the claim that Jews and Arabs in the Middle East are ‘ethnically’ distinct entities, leading to the demand for two separate nations, was challenged on the basis of DNA sequencing. In the third section, it will be shown how DNA analysis is used (some would say: mis/ab-used) to ‘calculate’ personal genetic histories. As we will argue at the end of this chapter, it is noteworthy that new genetic ‘evidence’ pertaining to ‘ethnic’/religious belonging has often remained without significant political and practical consequences. Rather, existing traditional and political concepts of belonging and difference seem to often prevail over competing new genetic knowledge (for similar observations in the medial realm, see Featherstone et al. 2005). Example 1: ‘Verifying’ the Jewishness of the Lemba The Lemba are a Bantu-speaking tribe in southern Africa, who, like other people such as the Chiang-Min on the Chinese Tibetan border, or the Falashmura in Ethiopia, claim Jewish heritage. According to representatives of the Lemba, approximately 2,500 years ago some Jewish families left Judea and settled in Yemen, from where they penetrated deeper into Africa when they fell out of grace with the local Yemenite population. While some of these families settled in Ethiopia, others spread out to Mozambique and Zimbabwe. Today, about 50,000–70,000 Lemba are left in Zimbabwe (Parfitt 2003; Johnston 2003); these families cherish customs which bear striking resemblances to Jewish rites. They circumcise males (however, unlike the Jews, the Lemba do it at the age of eight years, and not eight days); they refrain from eating pork and other meat forbidden in the Jewish Bible; they treat one day of the week as sacred; and women who want to join the Lemba tribe have to undergo a lengthy phase of ‘familiarising’ during which they learn about Lemba customs and beliefs (for males it is impossible to become Lemba; see also Egorova and Parfitt 2006; Liesenbang 1977). The rites and customs, in combination with the oral tradition of remembering the Jewish origin of the tribe, however, did not convince most Rabbis and experts on Jewish history of the accuracy of the Lemba’s collective memories (see also Zoloth 2003). Tudor Parfitt, Professor of Modern Jewish Studies at the University of London, met representatives of the Lemba at a lecture that he gave in South Africa and according to his own account, was intrigued with their ‘tantalizing claims to ancient Jewish heritage’ 408
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(Parfitt quoted by NOVA online n.d.). He found it ‘hard to believe’ but decided to make it his research project to learn more about the ‘real’ origins of the Lemba. After a period of carrying out historical and geographical research into the origins of the Lemba, Parfitt realised that the Lemba’s stories about their Semitic ancestries must be at least largely accurate. But were they Jewish? Some of the rites could also be seen as of Muslim origin (such as circumcising boys at the age of eight). A TV documentary about the ‘Lemba case’ phrased it very concisely: ‘The DNA analysis may yield a clue’ (NOVA online n.d.). Indeed, it turned out that a disproportionally high number of Lemba men carried a particular polymorphism on the Y chromosome which is known as the Cohen haplotype (Cohen = a male person born into a family of a Jewish priestly line; see Skorecki et al. 1997; Thomas et al. 1998; for a discussion, see Egorova 2007)12 dating back to the first priest, Aaron (Moses’ brother). The high prevalence of the Cohen haplotype in the Lemba population – which is higher than in the general Jewish population – is seen not only as a ‘validation’ of the Lemba’s collective memory of being Jewish but also as a ‘proof’ of an uninterrupted line dating back to Aaron.13 David Goldstein, a geneticist at University College London (now director of the IGSP Center for Population Genomics and Pharmacogenetics at Duke University), who carried out the genetic analysis on the blood samples from Lemba individuals, thought that the fact that almost 10 per cent of all Lemba DNA samples which they analysed carried the Cohen haplotype ‘appears to be a signature of Jewish ancestry’ (Goldstein quoted by NOVA online n.d.; emphasis added; see also Thomas et al. 2000). This story clearly illustrates two things: first, that genetics is seen as a feasible tool to ‘verify’ or ‘falsify’ cultural accounts of identity. It is a person’s body, and in this case, the DNA, which is seen as the person’s ‘identity card’, as quoted above. The host of a regular Zionist club luncheon in Johannesburg, South Africa, when confronted with the genetic ‘evidence’ for the Lemba’s claim to Jewishness, stated: ‘We, the Jewish community are guilty … because we never accepted what the Lemba had always maintained … until [the] genetic proof recently’ (Haruth 1999, emphasis added). Second, the story also illustrates that, on a practical level, DNA ‘proof’ or ‘disproof’ of belonging to a religion/nation is not considered sufficient to have political implications. When it came to the question whether the Lemba’s Semitic origin entitled them to be considered Jews, the genetic evidence was considered not conclusive enough. As the geneticists involved in the Lemba study rushed to emphasise, the existence of the Cohen haplotype does not determine priesthood (some priests do not carry the Cohen haplotype, whereas some people who carry the Cohen haplotype are not priests), and therefore certainly does not justify any claims to this status. And also with regard to the origin of the Lemba, Parfitt points out that ‘[a]ll one can say is that the Lemba may be shown to be of Middle Eastern extraction genetically and that the presence of the [Cohen haplotype] is indeed surprising and fascinating’ (Parfitt 2003: 116). When it comes to tangible political and legal rights (such as the right to citizenship in Israel), the importance of the genetic ‘evidence’ is downgraded to being merely an indicator. The Lemba have not immigrated to Israel, and the Israeli government has not invited them to do so under the ‘Law of Return’ applicable to Jews seeking Israeli citizenship. The genetic ‘verification’ of the Lemba’s semitic origin has not convinced the Israeli authorities of their Jewishness. Drawing upon Egorova and Parfitt (2006), this lack of practical and political consequences could be because the Lemba as a collective do not feel Jewish in the first place: while claiming Jewish (or at least Semitic) heritage is restricted to the Lemba elites, it was 409
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primarily the geneticists and the media who almost ‘invented’ the Lemba as a Jewish community for the outside world. Example 2: ‘Falsifying’ difference: the story of common ancestry of Palestinian Arabs and Jews The biological dimension of Judaism, namely the debate about whether Judaism is ‘only’ a religion, or Jews are a ‘people’, a ‘nation’ or a ‘race’, has become central to both how Jews were thought of and to the ways in which they thought about themselves during modern times, as modern genetics was expected to both establish the determinants of ‘Jewishness’ and to find out whether particular individuals or groups fit into this category. According to Falk (2006), before World War II Zionists used genetics to justify their struggle for overcoming the ‘degenerative qualities’ that Jews were supposedly afflicted with during 2,000 years of exile. By so doing, Zionists accepted the anti-Semitic claim that Jews were a ‘degenerated race’. Later on, after the Holocaust and the foundation of the Israeli state which absorbed Jews from all over the world, the focus changed to using genetics to look for a common genetic denominator for the different groups of Jews settled in the newly established state, who did not look alike, speak the same language or have the same collective memories of post-biblical times (Kirsh 2003). While some genetic studies suggest that Jewish populations strongly mixed with their host populations (for non-Ashkenazi Jews, see Behar et al. 2008) or that large numbers of non-Jews converted to Judaism (Mobini et al. 1997; Morton et al. 1982; Mourant et al. 1978; Patai and Patai-Wing 1975), other studies discern great genetic similarity between different Jewish communities and conclude that genetic input from surrounding populations was limited (for a discussion of both theories, see Hammer et al. 2000). As has been argued elsewhere (Prainsack 2007; Falk 2006; Kirsh 2003), the interpretation of the data on different Jewish ‘ethnic’ groups and their relatedness to one another as well as to non-Jewish neighbouring/hosting populations has always been influenced by political ideologies. While many Zionists favour a view of Jews as a distinct, non-European ‘ethnicity’ which has remained relatively homogenous throughout history (see, for example, Cochran et al. 2006), during the 1950s and early 1960s Israeli geneticists found many genetic differences between the diverse Jewish groups gathering in Israel. Yet Kirsh (2003) argues that an unconscious internalisation of Zionist ideology by the Israeli geneticists of the time led them to emphasise points of similarity rather than points of difference between the studied groups, thereby in turn reinforcing Zionist convictions. In a similar vein, more recent studies using DNA sequencing techniques (see below) have repeatedly supported the view that Mediterranean Arabs and Jewish are genetically closely related. For example, Hammer et al. (2000: 6774), in a study comparing the composition of Y-chromosome biallelic haplotypes of Jewish communities with patterns of variation in non-Jews from Africa, the Middle East and Europe, showed an ‘extremely close affinity of Jewish and non-Jewish Middle Eastern populations’. However, like Kirsh in her work on genetics in Israel in the 1950s and early 1960s, Falk argues that 40–50 years later, ‘the interpretation of the causal path for sequence similarities depend on the preconception held by the authors’ (Falk 2006: 159). Today, interpretations challenging the myth that Jews have a common ancestry – or even those which suggest that so-called Palestinian Arabs and Jews have much of a common genetic heritage – are repeatedly ignored as they do not fit common political categories. If new genetic knowledge about genetic origins on the collective really was as powerful as some claim (Simpson 2000), 410
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one could reasonably expect that especially in the context of ongoing peace negotiations in the Middle East biblical myths as well as genetic findings about the relatedness between Jews and Arabs would be mobilised to support reconciliation. Yet, such references are virtually absent. Given the very complex relationship between genes and nationhood, it is surprising that individual ancestry testing has faced relatively little public concern so far. This will be the topic of the next sub-section. Example 3: ‘Verifying’ family histories of people: individual ‘ancestry testing’ Advertisements disguised as providing sound ‘scientific’ information carrying titles such as ‘Trace your roots with DNA’, are flooding the internet. According to an article in Science, by fall 2007 at least two dozen companies were marketing genetic ancestry tests ‘to help consumers reconstruct their family histories and determine the geographic origins of their ancestors’ (Bolnick et al. 2007: 399); over 460,000 consumers had purchased such tests (Wolinsky 2006). Almost on the exact same day in fall 2007, two commercial companies, deCODEme (www.decodeme.com/) and 23andme (www.23andme.com), opened their virtual doors to customers interested in purchasing their ‘personalised’ genome information online for less than $1,000; they entail not only health-related information but also information on ancestry ‘all the way back to prehistoric populations’ (‘take a tour’ feature at www.23andme.com).14 Genealogical research, which has been seen as an American ‘obsession’ for a long time (Finkler 2005; Seabrook 2001; Hornblower 1999) now seems to have acquired a (financially very profitable) genomic spin. Technically, the search for personalised genetic histories (PGHs) (see Shriver and Kittles 2004: 611) is mainly carried out in two different ways: First, lineage-based analyses focus either on mitochondrial DNA (mtDNA), which is found in the cell mass (the cytoplasm) passed on from mothers to their offspring; or on the Y chromosome, which is of course exclusive to male lineages. The advantage of such lineage-based analyses is that information about ancestry can be narrowed down to particular ‘regions’, such as Native America, Europe, Africa or Asia (Shriver and Kittles 2004: 612). Another way of obtaining PGHs is the so-called bio-geographical ancestry analyses looking at autosomal genetic markers, which show differences in allele frequency across different populations; these differences can be attributed to even more specific regions. In the context of biogeographical ancestry analyses, attributions of somebody’s genome to specific regions are based upon statistical calculations (Shriver and Kittles 2004: 613). As many scientists readily admit (in contrast to many websites which advertise direct to consumer; see Scheinman 2004), each method has a multitude of limitations and uncertainties. For example, as Bolnick et al. (2007: 399) note, mtDNA and Y-chromosome tests examine only a tiny proportion (~1 per cent) of a person’s DNA and shed light on only one ancestor per generation. Furthermore, particular haplotypes/alleles common in a certain population are frequently mistaken to be diagnostic of that population (in other words, people without this haplotype/allele are told they are not part of this population, while people with this haplotype/allele are treated as part of it; see Bolnick et al. 2007: 400). Shriver and Kittles (2004: 616) also warn that a ‘potential negative consequence of PGH testing is that the genetically defined ancestral categories could be misinterpreted as indications of “real” racial divisions’. As opposed to genetic tests for predispositions for medical conditions and diseases, which are usually communicated as probabilistic, results of individual ancestry testing are often seen as providing infallible ‘facts’. They are 411
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interpreted as unambiguously accurate, quantitatively representable personalised genetic histories which grant access to resources and concessions (see also Reardon forthcoming). For example, if a person whose physical features (such as skin tone; see Harmon 2006) do not suggest any relation to ethnic minorities, can ‘prove’ through individual ancestry testing that she does belong to one, she may get privileged access to college and university education. Others use such test results to claim compensation for injustice which had been done to some forefathers and -mothers who are not part of the social family history but are apparently inscribed in one’s genes (Allen-Mills 2007). What Finkler (2005: 1066) argues with regard to ‘postmodern globalised society’ in general is particularly relevant with regard to individual ancestry testing: ‘time and space are compressed as they are on the genetic map that summarizes generations of history’ (see also Jones 1996; Harvey 1989). It remains to be seen, however, whether genetic ‘evidence’ of individual ancestry which conflicts with oral family histories does indeed change or modify individual identities. It also remains to be seen whether data on individual ‘genetic admixture’ will continue to be regarded a legitimate ground on which access to resources is allocated.
2 Conclusion The aim of this chapter was to shed light on the complex relationship between genes, individual/collective identities and politics. Drawing upon three different test cases we have argued that while the scientific search in the field of population genetics discussed in this paper certainly represents an essentialist approach to understanding individual/ collective identities, the actual effects of this tendency on identities and political rights are not predetermined by the scientific findings. Apart from a relatively limited range of scenarios where individuals can claim benefits and access to resources based on ‘genetic admixture’ with ‘ethnic’ minorities, genetic tests pertaining to ‘ethnic’ belonging have not been shown to lead to any lasting practical or political effects. These questions can only be answered on the basis of a detailed examination of the circumstances under which certain scientific theories have alliance with certain political agendas. To achieve this goal, much further research is needed. As a starting point, in contrast to Simpson (2000) who fears that contemporary genetics will ‘essentialise’ national or ethnic identities and lead to soft practices of eugenic selection and exclusion, our examples suggest that genetic ‘evidence’ of ‘ethnic’/religious belonging very often remains marginal to actual political practices, and is mobilised or ignored depending on the particular political and social objectives. For example, the study of ‘Jewish genomes’ illustrates the problems inherent in expecting population genetics to provide the scientific evidence to justify political programmes. In 1991 Tekiner published an article discussing the issue of race and national identity in Israel, in which she expressed her concern that: Perceived scientific support of a Jewish race has the potential of achieving a goal that has persistently eluded Israeli politicians – to provide a common basis of unity for secular and religious Jews. If successful, an exclusive, hereditary right to the land of Palestine could be rationalized in scientific as well as religious terms. (Tekiner 1991: 53) Contrary to her hypothesis, in the almost 20 years since Tekiner’s article was published, genetics research has not been able to bring the dispute about the origin of the Jews to a 412
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close (see Cohen 1999). Moreover, genetic theories which argued that Jews are a genetically distinctive group have been severely contested by Israeli scholars (Sand 2008; Falk 2006; Kirsh 2003). At the same time, however, more recent studies suggesting a relatively close genetic relatedness between Jews and their Arab neighbours have remained without political consequences as well. Thus, despite some efforts to maintain interest in Jewish genetics, accompanied by a number of ‘exciting’ genetic findings suggesting either that Jews are a biologically distinct group or that they are genetically closely related to their political enemies, none had any real effect on the political– demographic situation in the Middle East, or even on the rhetorics used to support different political points of views in the region. Likewise, the ‘verification’ of the Jewishness of the Lemba has had no tangible political repercussions until now. While Zoloth (2003: 128) argues that the Lemba story was seamlessly accepted because it ‘so closely followed central type scenes that were already powerfully embedded in the Jewish textual and historical tradition’, this ‘success’ was apparently not sufficiently important to lead to any concrete political consequences. Despite the fact that the state of Israel normally takes great efforts in supporting Jewish immigration to Israel, due to the fear of Palestinian Arabs endangering the majority of Jews in the state of Israel, the practice of encouraging immigration is applied selectively. Practices of differentiation between those who are welcome and those who are not do largely correspond with socio-economic factors such as average education levels and financial resources (which is often thought to correspond with skin colour and ‘ethnicity’), and are not based on genetic ‘proof’ of Jewish ancestry (for example, potential immigrants from Africa are not encouraged to come to Israel, even if genetics hints at common ancestries between them and other groups of Jews; see also Egorova 2007). In the literature, accounts of uses of genetic testing to determine religious and national belonging suggest that in some cases genetic testing supported existing oral histories and myths of origin (such as in the case of the Melungeons in Tennessee and Virginia; see Elliott 2003; Egorova 2007; Pálsson and Helgason 2003; Palmié 2007; Pálsson 2008b) while in others they conflict with them (Elliott and Brodwin 2002). Regarding the latter, to the best of our knowing, no empirical research has yet explored the question whether such ‘disruptions’ of narratives of origin and belonging (Egorova 2007: 3) have lasting effects, or whether identities ‘bounce back’ to what they were before the disruptive event (for example, by assimilating the new knowledge into previous narratives by making them compatible; see also Featherstone et al. 2005; Wade 2002). Moving to our third case discussing the genetic search for individual identities, it becomes clear yet again that the effects of scientific ‘findings’ on individuals cannot be anticipated based on the content of the new genetic knowledge. While, as Bolnick et al. (2007: 399) suggest, ‘[t]est-takers may reshape their personal identities, and they may suffer emotional distress if test results are unexpected or undesired’, it may also be the case that future empirical research will find that no such reshaping of personal identities takes place. While an undesired test result can certainly cause emotional distress to an individual, this is by no means a particularity of genetic ancestry tests (the same could be claimed with regard to other potentially important test results such as university admission tests, pregnancy tests, paternity tests, etc.; both can have far-reaching implications for a person’s further development and identity). Moreover, so far we have only anecdotal evidence (Hartigan 2008: 182) for the claim that people do indeed reshape their personal identities upon learning the result of a genetic ancestry test. It would be equally plausible to argue that people’s ‘personal identities’ and perceptions of belonging and kinship are 413
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primarily grounded in personal relationship to family members and shared family histories which render their identities relatively immune to being ‘reshaped’ upon a test result (see also Dabrock 2008; Kakuk 2006; Featherstone et al. 2005).15 In sum, while we do not mean to downplay the risks inherent in the use of individual ancestry testing, or of population genetics, we do also want to warn of unduly simplistic understandings of people’s personal/collective identities. As evidence suggests (Prainsack and Spector 2006; Featherstone et al. 2005), individuals tend to employ genetically deterministic ideas to a much lesser extent than many social scientists expect when it comes to their own bodies and lives.16 Likewise, the politics of collective identities is far too complex to surrender itself to what are inconclusive scientific theories about common ancestry. If, and under what circumstances, this is likely to happen must be the subject of further study.
Acknowledgements The authors are grateful to the following individuals who provided valuable comments on various stages of the draft of this chapter: Elise Belle, Troy Duster, Yulia Egorova, David Gurwitz, Péter Kakuk, Martin Kellner, Frank J. Leavitt, Ingrid Metzler, Michal Nahman, Gísli Pálsson, Jenny Reardon, Shiri Shkedi and Stefan Sperling. All mistakes remain ours.
Notes 1 If we had to provide a definition, we would suggest Ernest Renan’s 130 year old statement that: A nation is … a large-scale solidarity, constituted by the feeling of the sacrifices one has made in the past and of those one is prepared to make in the future. It presupposes a past; it is summarised, however, in the present by a tangible fact, namely, consent, the clearly expressed desire to continue a common life. A nation’s existence is, if you will pardon the metaphor, a daily plebiscite, just as the individual’s existence is a perpetual affirmation of life. (Renan 1882, quoted from Bhabha 1990: 19)
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Noteworthy is also Anthony Smith’s (2000: 3) pragmatic definition of a nation as ‘a named human population occupying a historic territory or homeland and sharing common myths and memories; a mass, public culture; a single economy; and common rights and duties for all members’. The limitations of Smith’s definition, however, become apparent when one asks the question whether the European Union (EU) fulfils the criteria for nationhood according to his definition. Indeed, the way that attributions of commonly shared characteristics – such as history, geography, etc. – hold ‘imagined communities’ (in Benedict Anderson’s sense) is not entirely different from the ‘virtual communities’ of the Web 2.0 generation – although in features such as Second Life (http://secondli fe.com/), individuals do have one-to-one interactions, which is not necessarily the case in Anderson’s ‘imagined communities’. For an overview of the early sociological literature on the New Genetics, see Conrad and Gabe (1999). The era of the ‘hegemony of the gene’ could also be characterised by Rothman’s (1998: 13) diagnosis of a setting in which ‘whatever the question is, genetics is the answer’ (see also Skinner 2006). As some authors argue, ‘race’ suffered a defining crisis during and after the Holocaust (Dunklee 2003); it survived due to its successful molecularisation in the context of a ‘narrative of enlightened geneticization’ (Hedgecoe 2001; see also Skinner 2006: 474). A preliminary goal of the Human Genome Diversity Project was to collect DNA samples from about 500 ‘distinct human populations’ (see website at www.stanford.edu/group/morrinst/hgdp/ faq.html#Q4) and turn them into ‘the most complete worldwide human DNA collection that is
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7
8 9 10
11 12
13 14
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available to not-for-profit researchers’ (Cavalli-Sforza 2005: 335). The project also planned to ‘carry out some basic, preliminary analyses of the DNA samples’ (see website) primarily for the purpose of genetic diversity studies – but those might provide important spin-offs for medical research as well (see Cavalli-Sforza 2005). Very illustrative in this context is the emergence of the disciplines of pharmacogenetics and -genomics (Gurwitz and Motulsky 2007; Hedgecoe 2004; Kahn 2004; Tate and Goldstein 2004). Also, as Pálsson (2007a: 258) points out, the term ‘population’ in ‘population genetics’ is not at all unproblematic; rather than bypassing the issue of ‘race’ and ‘ethnicity’, it deflects and black-boxes it. Wacquant (1997: 223) convincingly argues that ‘race’, as a concept, ‘has always mixed science with common sense and traded on the complicity between them’. See also special issue on race, genetics and science, Social Studies of Science, 2008. For an excellent albeit very brief discussion of the heuristical ‘depth’ often ascribed to genetics see Rose 2006: Chapter 4. This corresponds with a shift from ‘old’ eugenics, which had the well-being of the nation in its centre, to a more ‘liberal’ (Agar 2004) eugenics, focusing on the well-being of the individual (Rose 2001; see also Abu El-Haj 2007: 290): Also, in ancestry-testing the focus is on individual ancestry ‘admixtures’ rather than about the ‘ethnic’ characteristics of the collective. For an illustration of how the concept of ‘race’ has been imminent in the Human Genome Project from its beginning, see Dunklee (2003). There are two such priestly lines in Judaism: the Cohanim (Hebrew plural for Cohen), and the Levites. The status of a Cohen or Levi is solely obtained by males born to a Cohen or Levi father, and it should not be confused with the profession of a Rabbi (Halachic [ Jewish Law] authority), which is not heritable but obtained through adequate Jewish education and training. One can convert to Judaism, but not to priesthood; all carriers of ‘Cohen haplotypes’ on their Y chromosomes must therefore be biologically related to Aaron, as the Y chromosome is passed on from father to son. Later in the same month in fall 2007, the company Knome (www.knome.com/), founded by Harvard Medical School geneticist Georg Church, followed suit. As the website announces, ‘Knome is the first personal genomics company to offer whole-genome sequencing and comprehensive analysis services for individuals’; it is the whole-genome sequencing technique which distinguishes Knome from 23andme as well as deCODEme; the latter two ‘only’ analyse a particular number of single nucleotide polymorphisms (SNP). Unsurprisingly, Knome’s services are significantly more expensive than the services of the two ‘competitors’; customers pay about $350,000 for ‘whole-genome sequencing and a comprehensive analysis from a team of leading geneticists, clinicians and bioinformaticians. This team will also provide continued support and counselling’ (www.knome.com). Pálsson’s (2007a: 259–60) reference to the words of Canadian bioethicist Françoise Baylis supports our suggestion that family narratives might be much more powerful for an individual’s identity and sense of belonging than knowledge of one’s DNA: ‘my mother is from Barbados (my father is from England). I have a white face; and truth be told, a white body too. The fact is, however, that I am Black. How do I know? My mother told me so’ (Baylis 2003: 143). However, as we also learn from Baylis, we should be careful not to underestimate ‘obvious’ characteristics such as skin tone in this context: ‘Building a black identity is hard work when you are white’ (Baylis 2003: 144; see also Chinn 2000; Gilroy 2000). In the field of family and kinship studies, see Kaja Finkler’s (2000) interesting notion of a ‘significant same group’ denoting the often significant non-biological component in establishing belonging in a family/kinship context.
References Aas, Katja Franko (2006) ‘‘The body does not lie’: Identity, risk and trust in technoculture’, Crime Media Culture, 2: 143–58. Abu El-Haj, Nadia (2007) ‘The genetic reinscription of race’, Annual Review of Anthropology, 36: 283–300. Agar, Nicholas (2004) Liberal Eugenics: In Defence of Human Enhancement. Oxford: Blackwell. Ahmad, Waqar I.U. and Bradby, H. (2007) ‘Locating ethnicity and health: exploring concepts and contexts’, Sociology of Health and Illness, 29, 6: 795–810.
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29 Extravagance, or the good and the bad of genetic diversity Amade M’charek
Introduction There is a tendency to view diversity as a good in itself. One could, for example, think of cultural diversity or biodiversity. They almost automatically convey an appreciation of, and the giving of space to differences. By consequence differences and similarities are deemed given, and it is a matter of looking hard enough to see them. Yet we know that biodiversity is a totally different matter depending on whether a single-species approach or an ecological approach is used to investigate it. Similarly, in studies of human genetic diversity, boundaries between one population and another may shift and change, depending on the technologies that are being applied. In short, similarities and differences are not given, but made. They are effects of technology and their normative content is a matter of examination. The Human Genome Diversity Project (HGDP) has taught us that (genetic) diversity is political to the point of being controversial. Individuality, population, race, sex, origin, descent, genealogy, history, they have all become topics of heated debates. There is nothing natural or inherently good about such categories. What then can we learn from the HGDP about the good and the bad of human diversity? To answer these questions I will first briefly introduce the diversity project, its goals (diversity studies), and the debates that have ensued. In the second part we will enter the laboratory to examine the intertwinement of technology and genetic diversity. There we will take one technology as our main object of analysis, a genetic marker. Focusing on such a technology I will show that genetic diversity is not a given but made: that is, it is part and parcel of the socio-material configuration of scientific practices. In the final part of this chapter we take these insights to discuss issues of population and race and the problems and possibilities of diversity studies.1
Diversity projects In June 2000 the draft version of the human genome was presented to the world by representatives of politics, science and commerce. The illustrious company bringing this 422
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big news consisted of former US President Bill Clinton, former UK Prime Minister Tony Blair (via a satellite connection), the head of Human Genome Project Francis Collins and the Head of Celera Genomics Craig Venter.2 The human genome is obviously a major achievement in science, yet it soon became clear that its map is rather unreadable. Knowledge about genetic diversity proved to be crucial for interpreting and determining the genes that are on that map. By comparing different individuals or different populations one can begin to determine the functions of the genes that were unknown. In the meantime various different diversity projects have been launched aimed at that very goal.3 The first initiative for such a diversity project took place in 1991 when a number of population geneticists embarked on the international Human Genome Diversity Project (HGDP). The HGDP was not primarily aimed at ‘discovering’ or determining (disease) genes but at determining the relations between populations based on studies of genetic similarities and differences. These population geneticists were also interested in unravelling the migration history of humans. Based on the so-called out of Africa hypothesis – the evolutionary idea that humans came into being about 150,000 years ago in Africa – the aim of these geneticists was to map the genealogical ties between populations, to determine which populations were evolutionarily older and which younger, and to reconstruct the routes along which populations migrated out of Africa to ‘colonise’ other parts of the world.4 Such endeavour is not new and was made earlier in history on the basis of blood-group analyses and protein research (Kevles 1985). What is new, is first the scale on which the HGDP was to be organised and second the technology at hand. There is a cultural imperative for us to respond to that opportunity and use the extraordinary scientific power that has been created through the development of DNA technology to generate – for the benefit of all – information about the history and evolution of our own species (HUGO 1993: 3) The aim of an international initiative and the goal of mapping the genetic diversity of human populations in general was inspired by knowledge and technology that came out of the above mentioned multibillion Human Genome Project from the early 1990s onwards (see, e.g., Kevles and Hood 1992). Automated DNA sequencing methods, digital databanks and communication possibilities across the globe as well as the availability of an ever-growing number of genetic markers, seemed favourable for the aims of the HGDP. However, the HGDP became controversial almost overnight because of the object of its research, population. In June 1991 the journal Science paid attention to this project with an article bearing the title ‘A Genetic Survey of Vanishing Peoples’. This article opens as follows: ‘Racing the clock, two leaders in genetics and evolution are calling for an urgent effort to collect DNA from rapidly disappearing populations’ (Roberts 1991: 1614). One of the initiators, the population geneticist Luca Cavalli-Sforza, stated that: if sampling is too long delayed, some human groups may disappear as discrete populations … At a time when we are increasingly concerned with preserving information about diversity of the many species with which we share the Earth, surely we cannot ignore the diversity of our own species. (Cavalli-Sforza 1993: 2, emphasis added)5 423
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To accomplish the goals of the HGDP an initial list consisting of 500 populations was compiled. The collecting of blood as well as other samples of these populations was top priority (HUGO 1993: 28). As briefly indicated, ‘isolated populations’ and ‘indigenous peoples’ were on top of this list. Mapping their genetic makeup was deemed pivotal to produce knowledge and insight, not only about their genetic diversity and history, but also about how the Western melting pot must have come about. The presupposition is that populations in the West are mobile and they mix and mingle, producing less specific genetic profiles, whereas indigenous populations would allegedly stay put and live more isolated lives, contributing to a stable and fixed genetic makeup. Anthropologists have critiqued this rather naive idea about ‘people without history’ (Wolf 1982), those who live in ‘far off’ places. This is, for example, Margaret Lock (2001: 80) on this matter: The San peoples of South Africa, for example, at the top of the so called ‘genetic isolate list’, and therefore a pristine example of an uncontaminated population by HGDP standards, embrace three different language groups, suggesting relatively recent formation as a single group … [T]he San became isolated only in the 19th century, and their isolation is related directly to colonialism. Given the preference of the HGDP for ‘isolated population’ it did not take long before its object of research had become a subject participating in heated debates. Populations that had found their names of the project’s priority list, various organisations of indigenous people and others accused the project of racism and neo-colonialism. Referring to the project’s interest in blood samples it was soon dubbed ‘The Vampire Project’.6 Opponents of the HGDP argued that the targeted populations were badly informed about the goals of the project and that the blood samples that were taken were serving other goals than those of the sampled populations.7 During the 1990s organisations of indigenous people and other international political agents have examined the goals, methods, and potential value of the HGDP (NRC 1997). Some populations had decided to collaborate with the project in order to learn more about the genetic basis of diseases that prevail among them. Others, by contrast, were disappointed because their request to be involved in every step of the project was not granted (Lock 2001; Reardon 2005). In these debates organisations such as the RAFI (Rural Advancement Foundation International) and the National Congress of American Indians argued that the focus on difference might lead to racism and the reification of biological race. Geneticists argued by contrast that the knowledge that will come out of the project will prove the very non-existence of biological races and that difference among groups will prove to be much more significant than difference between groups.8 The HGDP will lead to a greater understanding of the nature of differences between individuals and between human populations, the HGD Project will help to combat the widespread popular fear and ignorance of human genetics and will make a significant contribution to the elimination of racism. (HUGO 1991: 1) The debates addressed mainly the good and the bad of the HGDP in terms of the intentions of the scientists or other actors involved, and they addressed the relevance of involving the populations investigated and their organisations for the knowledge to be produced (e.g. Lock 2001). These are indeed important issues. But little attention has 424
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been paid to the technology used despite the fact that technology was, as we have seen, a crucial precondition and at the heart of the HGDP.9 How does technology affect what we have come to know as genetic diversity, populations or race? For example, many of the laboratories working in population genetics already had large collections of samples collected after World War II. The study of population diversity, however, was halted in the 1970s because, as the geneticist Kenneth Kidd had put it, ‘we ran out of data’ (Roberts 1991: 1616). With the available technologies geneticists could not retrieve any more information out of the samples. What did change by the end of the 1980s was indeed the development of a variety of novel technologies. In what way do these novel technologies contribute to novel configurations of similarities and differences? What normative content does technology carry with it? And can technology contribute to the elimination or reification of racial differences? Laboratories in which work is being done on genetic diversity are populated with technologies. The main object of this paper is one single but crucial technology, namely the genetic marker. Genetic markers are tiny fragments of DNA that vary among individuals. This variation may be in length (e.g. Short Tandem Repeats, STRs) or due to a single mutation, insertion or deletion of one DNA building block (single nucleotide polymorphisms, SNPs). Genetic markers play a crucial role in studies of diversity. They are the unit of comparisons between individuals and populations. In order to unravel their normative content we will follow them around in a laboratory, the Forensic Laboratory for DNA Research (FLDO) in Leiden. A number of years ago I entered this laboratory as a novice interested in learning hands-on about the routine technologies of diversity research. The position of the novice is, as we have learned from Latour and Woolgar (1979), methodologically interesting (see also Lynch et al. 1983). Through this engagement, everyday routines and mundane knowledge are rendered strange. They are opened up in a process of learning and simultaneously become an object of analysis for the ethnographer. In the laboratory we will follow genetic markers around as they are being tested on chimpanzees in a chimpanzee diversity project. The practicalities and difficulties of this project will teach us about how genetic markers are implicated in what genetic diversity is made to be. In the last part of this chapter, we will use these insights to reflect on the HGDP and especially on the issues of diversity and race.
From blood to DNA In the 1990s I had met the head of the Forensic Laboratory for DNA Research (FLDO) and had asked him if I could do a traineeship in his laboratory. I was planning a laboratory ethnography on genetic diversity and was interested in learning some of the basic techniques they used.10 The FLDO conducted research on genetic diversity and was part of a network of population geneticists participating in the HGDP. The head of the FLDO generously offered me traineeship in his lab. On my first day I was assigned a supervisor who soon introduced the project on which I would be working. He told me that I would be working on the genetic diversity not of humans but of chimpanzees. As we will see below, chimpanzees were not a common object of research in this laboratory. I was assured that before the end of the day I would have conducted my first DNA extraction. And indeed in the afternoon blood samples of Fauzi, Carl, Yoran, Zorro and their mates were changed in: TNO-CH1, TNO-CH2, TNO-CH3, etc. 425
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I was surprised, though, since the DNA we had was nothing like the wool-like substance that I knew from handbooks or TV. What we had was more of a clear solution instead. My supervisor explained to me that since we were working with such tiny quantities of blood, we do not retrieve that much DNA from it. The little quantities of DNA would be sufficient because we would be able to copy them later on, using the PCR machine (Polymerase Chain Reaction).11 We placed the rack with the labelled DNA samples in the refrigerator and left the laboratory, but not before planning our PCR reaction, in which we would test the first human genetic marker in the chimpanzee samples.
Genetic markers: more than a copy While being interested in genetic markers it is common practice to first consult textbooks. A standard definition is the following: Marker: an identifiable physical location on a chromosome whose inheritance can be monitored. Markers can be expressed regions of DNA (genes), a sequence of bases that can be identified by restriction enzymes, or a segment of DNA with no known coding function but whose pattern of inheritance can be determined. (Kevles and Hood 1992: 381) A marker, so this definition tells us, is a specific fragment of DNA of which the patterns of inheritance can be traced through generations. The definition emphasises the patterns of inheritance indicating that markers are objects of comparisons. A genetic marker cannot be studied in isolation in one individual, only in relation to other individuals. This suggests that in the era of genetic diversity individuals are not so much related by blood (or even DNA), but by genetic markers. This is especially the case since geneticists cannot (yet?) study and compare the whole DNA of individuals, but only tiny fragments of these. In addition, by referring us to a ‘physical location on a chromosome’, the definition contributes to the naturalisation of relations. To denaturalise them it is important to place technology centre-stage and to follow these around in the practices in which they are put to use. Let us therefore move back to the chimpanzee project and examine the difference between the definition and the laboratory practice. At that stage of the Chimp project, our main objective was to test the first human genetic markers and to run a PCR. However, even with the help of a supervisor and a protocol, setting up a PCR for the first time was not an easy task. Undivided attention proved crucial. The very little quantities of DNA and chemical solution that we worked with made the danger of contamination more than real. After all, it is not possible for the naked eye to detect whether a tiny drop of a chemical solution has already been added to the DNA or not. In addition, since we studied the DNA samples of several individuals (chimps) at the same time, the problem of contamination of the samples, e.g. by forgetting to change the pipette tips, was paramount. After we had prepared the samples and had placed these in the PCR machine for copying, my supervisor explained to me what was going on in that machine. He made a drawing. The copying is conducted in different cycles of heating and 426
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cooling down. At high temperatures (say, at 72°C) the DNA fragments are denatured, the double strands of the DNA are pulled apart. When cooling down the single strands will then cling together. While the double strands are pulled apart the copying work can begin. A special heat-resistant (thermo-stable) enzyme and DNA nucleotides are vital for this and are available in the solution of each sample. A crucial limitation for the capacity of the DNA to reproduce (under such conditions) is established by the so-called primers. Primers are very short synthesised DNA fragments that match the beginning and the end of the DNA fragment of interest, i.e. the fragment to be copied. One could say that the primers mark the beginning and the end and they ‘promote’ the DNA to copy that fragment and not other parts of the DNA string. And they do more. The primers also carry a chemical fluorescent group that at a later stage will help to visualise the DNA fragment. Through this procedure and within two hours, a million times the initial quantity of DNA will become available. In laboratory parlour the DNA is no longer that, but has become a PCR product. When the PCR run was finished it was time for us to see whether we had succeeded in multiplying the targeted marker fragment. To visualise the markeralleles of the chimpanzees we had to mix the PCR product with yet another chemical substance and to then ‘load’ them on to ‘lanes’ on the agarose gel for electrophoreses. The currency that was put on the gel makes the DNA fragment move (migrate) from one electric pole to the other. Depending on the length (or rather the molecular weight) of the fragment it will, within a given time, move a longer or a shorter distance. On that basis we could then determine the marker fragment for each chimpanzee. While the electrophoresis was still going on, I left the laboratory for a couple of minutes. When I came back I found my supervisor (who had interrupted the run) together with some colleagues bending over the agarose gel and looking fascinated at the results. They had moved the gel and placed it under UV-light and were pointing at tiny orange-coloured bands (the alleles). It took me a while before I understood the nature of their excitement.
The intertwinement of nature and technology From the marker definition above we learned that a marker is fragment of DNA inherited from one individual by another. Therein a marker was defined as an object of research, a DNA fragment on which the pattern of inheritance can be traced. The description of the laboratory work, however, gives a more complex account. The elaborate account given above serves a purpose. It shows that a marker is not merely a DNA fragment, but one that is successfully aligned to a socio-technical practice, consisting of a variety of chemicals, copying and other technologies, protocols and precision work. The laboratory work made clear that the visualisation of a marker fragment, – the production of a ‘selective perception’, namely that of a target fragment and not any arbitrary fragment of DNA – involves what Michael Lynch has called the upgrading of the DNA (Lynch 1990). The DNA fragment had to be upgraded in order to make it an object of investigation. Given the intertwinement between DNA and technology, one could say that in a laboratory practice a marker is more than an object of research. Visualisation was built into 427
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the DNA from the extraction onwards, and throughout the preparation of the samples for copying, by adding various chemicals. The copied DNA fragments are entwined with these chemical substances as well as the chemicals in the agarose gel, and have in a literal sense become part of the visualising technology (visualised by the bands on the agarose gel). This entwinement indicates not only that a marker is not just an object of research but also indicates the crucial technology through which that same object can be visualised. This intertwinement is not so much about the fact that different technologies reveal different aspects (or sides) of an object. The point is rather that in genetic research objects have to be ‘translated’ (Callon 1986) and made into the very means to study them. They have to be made into a technology (Rheinberger 2001; Lynch 1990).
Back to the chimpanzees in the laboratory In the account above we lost sight of genetic diversity. What role do markers play in knowledge about genetic diversity? To answer these questions let us view the aim of the chimpanzee project. The goal of that project was to investigate possibilities for a genetic passport. The genetic identification of primates would serve as a solution to a lucrative but clandestine trade in them and would also provide a means to monitor their use in scientific research. Even though the FLDO did not have any experience with the genetic diversity of primate apes, it has over a number of years developed expertise on the identification of humans. It produces DNA profiles in the context of criminal investigations. If it is possible to identify human individuals, is it then also possible to do this for, say, chimpanzees? This was the central question that we had to answer. It may seem a paradox, but in order to identify an individual (human or chimpanzee), knowledge about the genetic diversity of the population of which such an individual is considered a member is required (M’charek 2000, 2008). This implies that the genetic markers that are used to produce a genetic profile (or a passport for that matter) should reveal a considerable amount of diversity within a population. They are then said to be polymorphic. A DNA-profile is based on six to twelve genetic markers. Because these markers are polymorphic it is possible to produce a fairly individual profile (M’charek 2000). To be sure, this does not imply that any two compared individuals have to be different for all markers used. They may show similarities for some and differences for other markers; though this should not hamper the production of reliable DNA profiles. The FLDO had studied the genetic markers in humans and has acquired knowledge about their variability (e.g. de Knijff et al. 1997). The question was, however, whether these markers would also be variable in chimpanzees.
From differences to similarities and back After we had tested the first genetic marker on the chimpanzees we had a brief conversation with the head of the laboratory. As far as he knew, these markers had never been tested before in chimpanzees. Our results, the fragment lengths (or alleles), had been unknown to that date. This explained the excitement of my supervisor and his colleagues while bending over the agarose gel two days day before. The consequent work of our project in which we tested six more genetic markers revealed (indeed) that 428
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the alleles that we had found in the chimpanzees did not correspond at all with those found in humans. We could be quite resolute about that because we had visualised the marker fragments of the chimps on a rather precise visualising machine, the so-called Automated Laser Fluorescent sequencer (ALFTM sequencer). The built-in laser technology detects the fluorescent-labelled DNA fragments and determines their precise length via special computer software. Once we had mapped all seven markers the focus of the project started to change. No longer were we after whether these human genetic markers can be visualised in chimpanzees. The fact that we could visualise them indicated that humans and chimpanzees looked sufficiently alike, otherwise the human-based primers would not have matched the chimp DNA and would have inhibited the copying of their DNA fragments. The central question now was whether the chimpanzees were sufficiently different from one another based on these markers. Put differently, were those markers suitable for a study of diversity in chimpanzees and could they contribute to the compilation of a genetic passport? Differences and variability between the chimpanzees were at stake. The answer to that question was rather disappointing. Even though the markers that we had tested were internationally praised because of their variability in human populations (see, e.g. Roewer et al. 1996), once applied in chimpanzees this diversity dropped. The chimps looked too much alike in those parts of the DNA. One of the seven markers showed four alleles and thus remained part in the chimpanzee passport project. A second marker was also kept on board despite a fairly low diversity (two alleles). By contrast to other markers that were abandoned because they only showed two alleles, this one was kept because of an even distribution of the alleles among the chimpanzees. The logics of this is the following: a marker for which only one individual carries allele A while the rest of the population carries allele B is not as informative as a marker where the alleles A and B are more evenly represented in the population. The chance that two individuals look similar is higher in the first case than in the second. The first is statistically speaking less interesting for diversity studies aimed at identification. In our search for suitable markers, the chimpanzee passport project went into a phase of further and more complex experimenting. For the purpose of this chapter we will now leave the laboratory in order to consider the consequences of this story for diversity studies.
Built-in diversity Above, I have argued that a DNA fragment is never by itself a genetic marker. It has to be aligned successfully to a variety of technologies to become one. DNA is therein not merely an object of research but also the very technology enabling this. The last account about the chimpanzee project indicates that markers should meet specific research goals. This suggests a third feature of genetic markers. The aim of the chimpanzee project was individualisation. However, diversity was crucial in producing individuality. Diversity brings about individuality. It was therefore not merely important to visualise the marker fragments in the chimpanzees (confirming the presence of those DNA fragments), but especially to determine the diversity among them in those parts of the DNA. This message is, however, more complex. After all, as we have seen, one marker was taken up despite its variability of no more than two 429
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alleles. The reason was a more even distribution of those alleles in the population of chimpanzees. This means that diversity is not merely a matter of differences but also of similarities. In par herewith, a genetic marker should reveal a ‘rate’ of similarities and differences, one that is in line with the specific research goals and the statistical models applied. From this we learn that a suitable genetic marker should contribute to the analyses of what it helps to reveal, namely diversity. A marker is therefore an object of research, the technology to visualise it, and a methodological tool contributing to its analyses.
The extravagance of genetics and the unsettledness of race This paper started out with a brief introduction of the Human Genome Diversity Project (HGDP) and its aims. There, I quoted the population geneticist and initiator of the HGDP Luca Cavalli-Sforza, framing the goal of the HGDP as ‘preserving information about diversity’.12 This seems to imply that genetic diversity is out there waiting for geneticists to grasp and ‘represent’ it. Even though geneticists are aware of their technologies, of how they intervene in their object of research, which is after all crucial in order to use those technologies in a different kind of research, the quote of CavalliSforza suggests that genetic research is about discovering, recording and preserving diversity out there. This is a popular approach in science at large; it usually makes it into textbooks and receives a prominent place in a popularised version of research on genetic diversity. However, by paying attention to scientific practice, to what geneticists do in laboratories, my aim was to tell a different story about genetic diversity. Rather than the ‘out-thereness’ of genetic diversity, the focus was on its ‘in-hereness’ (Law 2004). How genetic diversity is produced and what it is made to be in laboratory practice was at issue. I have taken genetic markers as an example to demonstrate the intertwinement of diversity with technology. It is, however, not any odd example. Genetic markers are the basis of comparisons between individuals or between populations, and therewith for the knowledge that geneticists are after. I have shown how genetic markers contribute to the result (genetic diversity) of such a comparison. Similarities and differences are built into genetic markers from the start. What we come to know as genetic diversity is therefore a matter of genetic markers. The same holds for populations and the boundaries between them. For example, the boundary between two populations can be determined based on marker X, only to completely disappear once marker Y is being used (see also Serre and Pääbo 2004). This is what makes current-day genetics both exciting and problematic. In this concluding section I will go into the problems and opportunities of studies of diversity. I will then suggest an alternative strategy that takes the problematic extravagance of genetics seriously. I mobilise the notion of extravagance to refer both to its common understanding as excess, and to its more etymological meaning of walking outside the paved ways, clearing new paths. Genetic diversity is always about population. Within the field of genetics and after World War II, ‘population’ has become the preferred object of diversity research. Population has replaced the more problematic category ‘race’ (Haraway 1992). In order to come to terms with the concept of race, in December 1949 UNESCO organised a meeting to discuss its scientific basis. This meeting resulted in the famous UNESCO statement on race (UNESCO 1951). In this document, written by mainly cultural anthropologists, sociologists and psychologists, it was concluded that there was no scientific basis for biological racial differences and that it was more accurate to use the concept 430
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of population. However, this conclusion produced a fierce debate among physical anthropologists and geneticists, especially with reference to inborn differences in mental capacities. Some of them turned around the argument propounded in the document and claimed that the fact that no racial differences had been found requires more inquiry. This was the reason that UNESCO invited the contributions of 96 scientists to help produce a second document. In this one, the majority of scientists pleaded for more research instead of a hasty consensus on the (non)-existence of race (UNESCO 1952). Nevertheless, and as a side-effect of these debates and the media attentions they received (Haraway 1992), population became the privileged category in biological research, and race was referred to the domain of ‘ideology’ and ‘bad science’ (see, e.g. Haraway 1992; Hannaford 1996; Harding 1993). The fact that population had become the preferred category in the field of genetics does not inherently mean that race science ceased to exist (Abu El-Haj 2007). Neither does it mean that population differences are innocent or less essentialising than racial differences. Population differences may become rather stable and fixed, and in fact function just like race differences, both politically and as a ‘naturalised’ category suggesting that the differences at issue refer to a whole cluster of biological (and cultural) traits. In addition, there is no one given definition of population and in practice it may come to mean a variety of different things (M’charek 2000). Within the HGDP a debate took place about what a population is. This was a relevant question indeed, for it was linked to the question of which ‘populations’ to sample. Where the late Allan Wilson, one of the initiators of the HGDP, had argued against any presupposition about what makes a population and for the sampling of blood according to a geographical grid, Cavalli-Sforza had argued by contrast for a definition based on linguistic separations. A definition of population that is informed by specific and more or less traditional anthropological research (Roberts 1991), and which along the way became more dominant within the HGDP. In an article in the Scientific American, Cavalli-Sforza elaborates on his preference for this definition. He argues that there are similarities in the way languages and genes are transmitted from one generation to the other. He thereby differentiates between a horizontal and a vertical transmission. Vertical transmissions take place between parents and children, whereas horizontal transmissions are current between non-related individuals. While genes can only be transmitted vertically, the transmission of language may follow either of these two routes. According to Cavalli-Sforza, linguistic separation is an excellent way to distinguish between isolated and non-isolated populations. In the modern world horizontal transmission is becoming increasingly important. But traditional societies are so called precisely because they retain their cultures – and usually their languages – from one generation to the next. Their predominantly vertical transmission of culture most probably makes them more conservative. (Cavalli-Sforza 1991: 78)13 In other words, language was not an arbitrary criterion, or merely a pragmatic clustering of individuals in order to realise the goals of the HGDP. Language was taken to be a difference-making technology that is seamlessly connected with genetic diversity, a technology that works even more elegantly when applied to ‘isolated’ populations. In such populations language and gene transmissions are taken to be synchronised. This example shows that knowledge about genetic diversity is not isolated. Such knowledge is connected and placed in a broader context of pre-existing knowledge 431
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about similarities and differences, if not race. Even though there is no stable reference for biological similarities and differences and even though projects such as the HGDP are producing a whole range of knowledge that undermines classical racial differences, the problem of essentialism has not ceased to exist. This problem has to do with what John Law has called ‘project-ness’ (Law 2002). This is the idea that knowledge and technology are best ‘narrated’ and thus performed in projects. Projects have clear beginnings and endings, they have set goals that can be assessed in (for example) audits, and they presuppose a linear and chained mode of work. The HGDP has taken up such a form by coordinating scientific work, centralisation and standardisation. Even though the HGDP did not quite succeed in centralising its activities,14 a number of workshops and conferences that were organised have contributed to the coordination of diversity research and to the standardisation of the technologies used. Some of the workshops were especially aimed at achieving consensus about priorities. Just like the list of 500 targeted populations, a list of priority markers was produced. Standardisation is of course a prerequisite for scientific work; it contributes to the comparability of results and to an exchange of knowledge and technology among scientific groups. Yet it also contributes to a homogenisation of practices and the naturalisation of the results of science. The politics of standards is not merely the fact that they include and exclude, but has also to do with their sheer existence. Standards make themselves self-evident to their users (Star 1991). Given the discussion above about race and racial differences, it is politically relevant that current-day genetics is producing knowledge that undermines classical racial categories. And we might even dare to state that the politics of the standards that help produce novel versions of populations might even contribute and strengthen the anti-race claim of the HGDP. The claim that there is no such thing as biological races might become as it were ‘evidence-based’. One problem, however, is that biological/genetic knowledge is not isolated. As we have seen while discussing the relevance of ‘isolated populations’, there is a tendency to connect genetic diversity to pre-existing notions about such a population and its history (e.g. Sleeboom-Faulkner 2006). In addition, work on genetic diversity does not take place on a politically neutral ground. There are specific socio-political conditions that may stimulate specific questions both in science and outside (e.g. in terms of funding). The history of the Human Genome Project provides a case in point (e.g. Kevles and Hood 1992). But also, the political relevance of, or priority given to combating common diseases, such as diabetes, hypertension or asthma, can pave the political way for race thinking and for diversity projects such as the HapMap project (e.g. Fullwiley 2007).15 What is interesting about current-day genetics is that it produces categories of population that do not map on to existing biological classifications. Those categories are a product of genetic markers. Given the fact that the number of genetic markers, whether in the form of Short Tandem Repeats that we discussed above or in the form of single nucleotide polymorphisms (SNPs), has increased considerably in the last 15 years and is growing on a daily basis, there are by consequence endless ways to cluster individuals in populations. Whereas the classical definition of race would start with a given category into which individuals are fitted, in contemporary genetics the route is rather the other way around. The starting point is an individual or a group with an endless amount of genetic information (markers), through which populations can be clustered again and again as something different. Contemporary genetics is interesting because of its very extravagance, its excess. The capacity to de-naturalise biological categories is part and parcel of the excessive numbers of objects (such as populations) that it is producing (Serre and Pääbo 2004).16 432
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Even though an abundant number of technologies has become available contributing to an endless version of population, within scientific communities standards such as the focus on priority lists make themselves self-evident, especially since the knowledge that such lists help produce finds its way into scientific publications, conferences and databanks. In consequence, some versions of population will become dominant while others will move to the background. Instead of complying with these dominant versions or criticising them, it might be a politically important strategy to bring to the fore the more backgrounded versions of population, and to embrace all possible ways of knowing diversity, produced in and outside of projects such as the HGDP. It might thus become clear that population is not a singular thing but rather multiple (Mol 2002), and that geneticists do not have a privileged access to knowledge about similarities and differences. Genetics may thus become just one way of knowing differences and similarities among many others. In addition, holding on to the various ways of doing population, and not siding with just one, makes the knowledge that comes out of the HGDP and related projects even more relevant for other contexts. For example, in hospitals, what a population is may shift among the different wards (Serre and Pääbo 2004; M’charek et al. 2005; Ellison et al. 2007).17 The availability of different versions of population might make it more relevant for such a practice.18 Instead of joining the chorus and following pre-existing routes of knowledge, genetics would better remain out of line with a diversifying concept of population. Might its extravagance thus become a site for critical reflection on race?
Acknowledgements The hospitality and help of the scientists and technicians of the Forensic Laboratory for DNA Research has been invaluable for my research. I want to thank them for that and for ongoing exchanges and collaborations. Many other colleagues have contributed valuably to my thinking and writing about issues of diversity. Here I especially want to mention Annemarie Mol and thank her for never-ending and passionate conversations. Barbara Katz Rothman I thank for feedback on this chapter. Gary Price I thank for his generosity and for polishing my English.
Notes 1 This chapter is based on a laboratory ethnography of the HGDP which was published with the Cambridge University Press (M’charek 2005). 2 The White House office of the Press Secretary (26 June 2000); ‘The Genome Special’, Nature, 405 (29 June 2000). 3 See for some examples: the Genetic Variation Programme in the Environmental Genome Project, the HapMap Project, the 1000 Genomes Project, the Genographic Project. 4 The term ‘colonise’ is used deliberately because it is a common term in the field of population genetics. 5 On the preservation of biodiversity as information and information management, see Bowker (2000). 6 See for example De Stefano (1996) ‘The Xs and Ys of Legal Rights to Genetic Material’, http:// ipmag.com/destefan.html 7 See for this argument, Luke Holland (producer), The Gene Hunters (Zef Productions, 1995). This documentary was broadcast on Dutch national television in June 1995.
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8 This is the by now classical argument developed by the geneticist Richard Lewontin (Lewontin 1972). 9 This has been changing slowly in recent years. See for example Nash 2005 and Bostanci 2006. 10 This was a study of the HGDP in which I conducted participant observation in both the Leiden laboratory (FLDO) and the Laboratory for Human Genetics and Evolution in Munich (see M’charek 2005). 11 On PCR and its history, see Rabinow 1996. 12 This approach is of course not without politics. In the case of bodiversity, Geoffrey Bowker (2000: 748) defines the difference between biodiversity science and biodiversity politics as follows: ‘broadly speaking, species are a third world commodity; information about species is a first world commodity’. The similarity with the HGDP and its (initial) focus on ‘isolated populations’, and the ‘science for the west, genes from the rest’ kind of approach is obvious (see also, e.g., Hayden 1998). 13 A similar claim was made in 1947 by C.D. Darlington about the link between blood and language. It was, however, a claim that did not sustain criticism (Molnar 1975: 6). 14 One major exception is a cell line databank housed by Foundation Jean Dausset (CEPH) in Paris. That databank contains 1,065 cell lines taken from 51 populations. DNA from these cell lines can be made available to geneticists free of charge as long as they submit all their data to the databank in order to better share the knowledge produced. 15 It is by now well known that racial differences have been given prominence in medical practice, whether in form of biological/genetic differences, ethnic differences or in more politically correct wordings such as ‘paying attention to diversity’. See various different examples, Epstein 2004; Wieringa et al. 2005; M’charek et al. 2005; Braun 2007; Ellison et al. 2007; Fullwiley 2007. 16 Serre and Pääbo (2004) show that alleged racial differences found in genetic diversity research are the effect of study design such as sampling strategies and statistical methods applied. Reanalysing some of the data, they show that the individuals studied cannot be allocated to a specific continent or a predefined population. They thus conclude that populations and the differences between them are better understood as ‘clines’ – that is, gradients of diversity – rather than discontinuities that can be assigned to geographical distances. 17 This resonates with the debate on race in science and biomedical practice (e.g. Braun 2007; Ellison et al. 2007). In an argument similar to mine, George Ellison and his colleagues put forward that international standards on how to account for ‘racial’ differences without reifying races as genetically distinct subspecies would meet problems in medical practices, especially since many different concepts of race or ethnicity are circulating in those practices. Ellison et al. thus argue that ‘we need to recognise that different racial and ethnic categories are needed to describe inequalities in health care in contexts where these have different salience and meaning’ (2007: 1435). 18 One of the goals of the HGDP is that the knowledge it produces will contribute to a better understanding of diseases and their genetic basis.
References Abu El-Haj, N. (2007) ‘The gentic reinscription of race’, Annual Review of Anthropology, 36: 283–300. Bostanci, A. (2006) ‘Two drafts, one genome? Human diversity and human genome research’, Science as Culture, 15, 3: 183–98. Bowker, G.C. (2000) ‘Biodiversity datadiversity’, Social Studies of Science, 5: 643–83. Braun, L. (2007) ‘Racial categories in medical practice: how useful are they?’ PLoS Medicine, 4, 9: 1423–7. Callon, M. (1986) ‘The sociology of an actor-network: the case of the electric vehicle’ in M. Callon, J. Law and A. Rip (eds) Mapping the Dynamics of Science and Technology: Sociology of Science in the Real World. Basingstoke: Macmillan, pp. 19–34. Cavalli-Sforza, L.L. (1991) ‘Genes, peoples and languages’, Scientific American, 265: 72–8. —— (1993) Answers to Frequently Asked Questions about the Human Genome Diversity Project. Stanford, CA: The North American Committee. de Knijff, P. et al. (1997) ‘Chromosome Y microsatellites: population genetic and evolutionary aspects’, International Journal of Legal Medicine, 110: 134–49. De Stefano, P. (1996) ‘The Xs and Ys of legal rights to genetic material’, IP-Worldwide, 101; online: http://ipmag.com/destefan.html
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Ellison, G.T.H. et al. (2007) ‘Racial categories in medicine: a failure of evidence-based practice?’ PloS Medicine, 4, 9: 1434–6. Epstein, S. (2004) ‘Bodily differences and collective identities: the politics of gender and race in biomedical research in the United States’, Body and Society, 10: 183–204. Fullwiley, D. (2007) ‘Race and genetics: attempts to define the relationship’, BioSocieties, 2: 221–37. Hannaford, I. (1996) Race: The History of an Idea. Baltimore: Johns Hopkins University Press. Haraway, D. (1992 [1989]) Primate Visions: Gender, Race, and Nature in the World of Modern Science. London, New York: Verso. Harding, S. (ed.) (1993) The Racial Economy of Science: Towards a Democratic Future. Bloomington and Indianapolis, IN: Indiana University Press. Hayden, C. (1998) ‘A biodiversity sampler for the millennium’, in S. Franklin and H. Ragoné (eds) Reproducing Reproduction: Kinship, Power, and Technological Innovation. Philadelphia, PA: University of Pennsylvania Press, pp. 173–206. HUGO (1991) The Human Genome Diversity (HGD) Project: Summary Document. Sardinia: Human Genome Organisation. Kevles, D.J. (1985) In the Name of Eugenics: Genetics and the Issue of Human Heredity. Cambridge, MA: Harvard University Press. Kevles, D.J. and Hood, L. (eds) (1992) The Code of Codes: Scientific and Social Issues in the Human Genome Project. Cambridge, MA: Harvard University Press. Latour, B. and Woolgar, S. (1979) Laboratory Life: The Social Construction of Scientific Facts. Beverly Hills, CA: Sage. Law, J. (2002) Aircraft Stories: Decentring the Object in Technoscience. Durham, NC: Duke University Press. —— (2004) After Method: Mess in Social Science Research. London. Routledge. Lewontin, R. (1972) ‘The apportionment of human diversity’, Evolutionary Biology, 6: 381–98. Lock, M. (1990) ‘The external retina: selection and mathematisation in the visual documentation of objects in the life sciences’, in S. Woolgar and M. Lynch (eds) Representation in Scientific Practice. Cambridge, MA: MIT Press, pp. 153–86. —— (2001) ‘The alienation of body tissue and the biopolitics of immortalized cell lines’, Body and Society, 7: 63–91. Lynch, M. (1990) ‘The external retina: selection and mathematisation in the visual documentation of objects in the life sciences’ in S. Woolgar and M. Lynch (eds) Representation in Scientific Practice. Cambridge, MA: MIT Press, pp. 153–86. Lynch, M., Livingston, E. and Garfinkel, H. (1983) ‘Temporal order in laboratory work’, in K. KnorrCetina and M. Mulkay (eds) Science Observed: Perspectives on the Social Study of Science. London: Sage, pp. 205–38. M’charek, A. (2000) ‘Technologies of population: forensic DNA testing practices and the making of differences and similarities’, Configurations, 8: 121–58. —— (2005) The Human Genome Diversity Project: An Ethnography of Scientific Practice. Cambridge: Cambridge University Press. —— (2008) ‘Silent witness, articulate collective: DNA evidence and the inference of visible traits’, Bioethics, 22, 9: 519–28. M’charek, A., Kohinor, M. and Stolk, R. (2005) ‘Diversity in clinical practice: which differences matter?’ in N. Wieringa, N. Hardon, K. Stronks and A. M’charek (eds) Diversity among Patients in Medical Practice: Challenges and Implications for Clinical Research. Amsterdam: Amsterdam University, pp. 47–79. Mol, A. (2002) The Body Multiple: Ontology in Medical Practice. Durham, NC: Duke University Press. Molnar, S. (1975) Races, Types, and Ethnic Groups: The Problem of Human Variation. Englewood Cliffs, NJ: Prentice-Hall. Nash, C. (2005) ‘Geographies of relatedness’, Transactions of the Institute of British Geographers, 30: 449–62. NRC (National Research Council) (1997) Evaluating Human Genetic Diversity. Washington, DC: National Academy Press. Rabinow, P. (1996) Making PCR: A Story of Biotechnology. Chicago, IL: University of Chicago Press.
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Reardon, J. (2005) Race to the Finish: Identity and Governance in an Age of Genomics. Princeton, NJ: Princeton University Press. Rheinberger, H.-J. (2001) Experimentalsysteme und epistemische Dinge: Eine Geschichte der Proteinsynthese im Reagenzglas. Göttingen: Wallstein Verlag. Roberts, L. (1991) ‘A genetic survey of vanishing peoples’, Science, 252: 1614–17. Roewer, L. et al. (1996) ‘Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations’, Human Molecular Genetics, 5: 1029–33. Serre, D. and Pääbo, S. (2004) ‘Evidence for gradients of human genetic diversity within and among continents’, Genome Research, 14: 1679–85. Sleeboom-Faulkner, M. (2006) ‘How to define a population: cultural politics and population genetics in the People’s Republic of China and the Republic of China’, BioSocieties, 1, 4: 399–419. Star, S.L. (1991) ‘Power, technology, and the phenomena of convention: On being allergic to onions’, in J. Law (ed.) A Sociology of Monsters: Essays on Power, Technology and Domination. London: Routledge, pp. 26–57. UNESCO (1951) UNESCO and its Programme III: The Race Question, UNESCO Publication 785. Paris: UNESCO. —— (1952) ‘The race concept: results of an inquiry’, in UNESCO, The Race Question in Modern Science. Paris: UNESCO, pp. 36–91. Wieringa, N., Hardon, A., Stronks, K. and M’charek, A. (2005) Diversity among Patients in Medical Practice: Challenges and Implications for Clinical Research. Amsterdam: Amsterdam University. Wolf, E. (1982) Europe and the People without History. Berkeley, CA: University of California Press.
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30 Eugenics Lene Koch
Introduction Eugenics is a highly charged term, which provides entry to a complex history. The range of definitions and understandings of eugenics that have prevailed since the late nineteenth century hampers any attempt to provide an authoritative definition of the word. In fact, it is instructive to look at the ways in which such definitions have changed over time (see Koch 2006). However, most present-day works on the history of eugenics define the concept with reference to the British statistician and polymath Francis Galton. In 1883 he was searching for a brief word to express the science of improving stock … which takes cognisance of all influences that tend, in however remote a degree, to give to the more suitable races or strains of blood a better chance of prevailing speedily over the less suitable. Galton found that ‘the word eugenics would sufficiently express the idea’ (Galton 1883: 25). Galton, cousin to Charles Darwin, was writing after publication of Darwin’s Origin of Species (1859) but before the rediscovery of Mendel’s genetics at the turn of the twentieth century. Yet eugenics was not just a scientific study and was not only concerned with increasing the prevalence of ‘suitable’ races. Many other notions of eugenics were in circulation both in Galton’s time and later, as eugenics gained ground both as a social movement and as a scientific and medical practice. These were both argued over continually as eugenic practice developed in different countries, and provided scope for widely differing historical interpretations of the meaning of eugenics as earlier practices were reappraised in the light of modern debates about reproduction and genetics. In hindsight, the concept of eugenics may be seen as a meeting place for a number of different views and changing understandings of the political importance of the biological quality of the population. Interpretations of eugenics have also been immensely influential in shaping the debate regarding the regulation of human genetics and reproduction. Today, eugenics has largely negative connotations. It plays a vital role in a range of political, ethical and scientific contexts and may be invoked to influence public debate 437
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whenever new genetic and reproductive technologies are being discussed – although often in simplistic and ahistorical ways. By tracing the historical development of the concept through the twentieth century, one encounters a larger and more complex semantic framework involving historically specific understandings of the relation between the individual and society, science and politics and responsible and irresponsible reproductive behaviour. These have been argued over in turn as the ‘new genetics’ of the molecular era has impinged on policy-making, and as new historical research has enriched understanding of the scope and complexity of earlier eugenic policies, their motivations and sources of support. In particular, the Scandinavian case illustrates many of the subtleties of eugenic policy and politics, including the complexity of the relations between eugenics, science and the state. These offer further food for thought in considering present and future applications of technologies, which may affect the genetic make-up of the population.
Origins and development of eugenics During the twentieth century a number of countries in the Western world developed a concern about the quality of populations – a perceived deterioration of this quality led to demands that something be done to safeguard race, blood or nation. These concerns embraced biological, social and moral arguments, which eventually formed the basis for a broad international eugenic movement. The movement proposed a range of activities to ‘improve’ the population – or at least arrest its deterioration. Some were positive, such as better babies’ competitions and incentives such as tax relief or housing benefits to encourage ‘fitter’ families to have more children. Others were negative. Measures used in an attempt to reduce reproduction of those considered unfit ranged from restrictions on marriage, to abortion, sterilisation and – in Nazi Germany – murder. Galton’s original formulation of eugenic ideas took place in a post-Darwinian, Victorian milieu, and was presented in part as a humanitarian project for minimising poverty and suffering, as well as a way of guaranteeing national strength through enhancing the quality of the citizenry. The emergence of the wider eugenic movement may be seen as a product of the challenges of continuing vast social changes taking place at the turn of the century: industrialisation, urbanisation and conspicuous poverty, as well as scientific developments in statistics and medicine. In Britain, a declining middle-class birth rate combined with increasing lower-class growth (the so-called ‘differential birth rate’), growing state expenditures and increasing crime and destitution, were perceived by a large segment of the middle and upper classes as socially dangerous. They saw a threat in excessive breeding of hereditarily tainted and socially undesirable individuals. Eugenics, that is some form of a political control of human reproduction, would deal with this threat. Eugenics is often seen as a brutal continuation of Darwin’s thoughts on natural selection, as extended in Herbert Spencer’s social Darwinism. However, at the beginning of the twentieth century there was a positive aspect to moving from natural to artificial selection. It was presented as a policy made by far-seeing, progressive, rational and humanitarian statesmen and scientists who wanted to counter the negative effects of civilisation. In Britain it was argued that war and emigration had taken the best human material and left the worst behind. This required action, if society was not to be flooded by the unfit. The opponents of eugenics were individualistic liberals who protested 438
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against state intervention and control over individual reproductive affairs, as well as traditionalist Christians who opposed intervention in God’s creation, Although the ideas of state intervention in human reproduction were first authoritatively articulated in Great Britain (Galton 1883), their implementation began in the USA, where advocacy of eugenics was imbued with race as well as class prejudice in the wake of massive immigration from Europe. A number of individual states passed eugenic legislation at the beginning of the twentieth century. Sterilisation quickly came into focus as the main negative eugenic instrument, as it was considered more ethically acceptable than abortion. Indiana passed the first sterilisation act (1907), followed by Washington, California and a number of other states. Canada followed suit in 1928. In all, approximately 56,000 Americans were sterilised as a result of these laws, some of which continued to be used until the 1950s. The 1924 US immigration laws also held a strongly eugenic aspect, setting up quotas for the least desirable types of immigrants, the so-called ‘inferior stock’. The US efforts gained ‘pioneer status’ – often admired, and adopted by a number of European countries, where a broad circulation of American eugenic literature took place. This literature featured stories of pseudonymous families like the Kallikaks and the Jukes, who were portrayed as spawning generations of indigent, moronic, immoral or criminal descendants in numbers which were typically depicted in stylised family trees. The Jukes, for example, first featured in eugenic propaganda in the 1870s, and their extended story was energetically propagated by the newly founded Eugenics Record Office at Cold Spring Harbor in New York in the early years of the twentieth century. Tales of these and other ‘unfit’ families helped foster a pro-eugenic political climate in a number of North European countries. Groups targeted for reproductive control were manifold and ranged from the mentally handicapped (‘feeble-minded’), criminals and prostitutes to worn-out mothers and people with hereditary diseases. Sterilisation acts covered both voluntary and compulsory sterilisation. One small Swiss canton (Vaud) passed the first European sterilisation act in 1928. After this followed Denmark (1929, 1934 and 1935 with approximately 13,000 sterilisations), Germany (1933 with approximately 350,000 sterilisations), Sweden (1935 with 60,000 sterilisations) and Norway (1935 with approximately 44,000). Finland and the Baltic states followed suit, but neither Great Britain with its strong liberal tradition nor the Catholic countries of Southern Europe passed eugenic legislation. However, eschewing legislation did not necessarily mean a rejection of eugenics or total abstention from using eugenic measures. Some Catholic writers advocated eugenics, even though they were opposed to surgical or other preventive intervention in reproduction. Sexual abstinence and positive eugenic measures such as state benefits to fit families lay within the borders of Catholic eugenics. Some sterilisation with eugenic intent most likely took place in both Great Britain and France, where sterilisation was not authorised by law, but neither was it prohibited (Zylberman 2001; Favereau 1996). As a consequence, no statistics are available. Elsewhere, there were also eugenic programmes in Japan, which practised both positive and negative eugenics. Here, eugenics had strong military and racial overtones, where the desire for better population quality was closely linked the aim of creating a superior army. Australia and several Latin American countries also had eugenics movements, and there was a complex history of eugenic discussion in the former Soviet Union. Support for eugenic sterilisation declined in the post Second World War years, as the full extent of the Nazi holocaust became apparent. However, this event only played an 439
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indirect role in the dismantling of the sterilisation practices outside Germany. In the USA the anti-miscegenation acts prohibiting interracial marriages were abolished by a 1967 Supreme Court decision. In Europe, the sterilisation of the mentally retarded continued till the 1970s, until it was substituted by new methods of contraception. The Scandinavian countries, as discussed in more detail below, continued practising eugenic sterilisation until the early 1970s. The old eugenic legislation has by now been abandoned in all Western countries. China, however, has recently embraced an explicit eugenic agenda and the goal of population improvement is written into Chinese law. It is closely linked to the one-child policy, which began in 1978, and draws to some extent on a Confucian tradition which emphasises the individual’s duties to the collective. This has clear similarities to the dominant eugenic thinking of the interwar period in Europe and the USA. There has also been recent support for positive and negative eugenics in Singapore, whose premier in the 1980s instituted incentives for educated women who bore children, and for less-educated women who opted for sterilisation after bearing one or two children.
The historiographical tradition A pivotal moment in the history of eugenics is the fall of the Third Reich. Subsequent discussions of eugenics have offered widely differing answers to the question of the relation between eugenics movements in other countries and the Nazi concept of racial hygiene, which became associated with the holocaust On one hand, the two have been portrayed as synonymous, making eugenics a term with inescapable negative connotations. On the other, it has been argued that racial hygiene is best seen as a counter concept to eugenics and is encapsulated as a Sonderweg, a uniquely German strain of thought which need not affect the basic acceptability of eugenic practice (Kemp 1951). Further historical study has developed this debate. The widely held assumption that eugenics was synonymous with Rassenhygiene as it developed in Nazi Germany has to some extent been supported by historical research which has documented that – in spite of the differences among various countries – eugenic theory in Germany and the rest of the Western world had a common ideological basis, and constituted a common corpus of ideas. It was developed at international scientific conferences where European, including German, scientists participated alongside scientists from other Western countries all through the late nineteenth and early twentieth centuries (Kühl 1994). But other elements of these assumptions have been undermined by historical research. Kevles’ groundbreaking book on eugenics in the USA and Great Britain may be seen as the beginning of an interest in nuances (Kevles 1986). He drew attention to the politically progressive, often socialist geneticists in Great Britain, who argued for eugenics from a reputable scientific viewpoint. In order to distinguish these circles, which included such famed scientists as Lancelot Hogben, Lionel Penrose, John Burdon Sanderson Haldane and Julian Huxley, from the more politically reactionary and scientifically unreliable characters such as Jon Alfred Mjøen, Charles Davenport or Paul Popenoe, Kevles adopted the terms ‘mainline’ and ‘reform’ eugenics – which had earlier been introduced by Searle (Searle 1976). The implication was not just that there were more respectable variants of eugenics in the past, 440
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but also a clear moral dividing line between the past and the present. Mainline eugenics was unscientific, prone to compulsion and politically right-wing. Reform eugenics was progressive, based on good science and left-wing. As such, it could be seen as the legitimate scientific predecessor of modern, ‘non-directive’ genetic counselling – which works with the individual but also has a concern for public health. The problem with this approach is that the distinction between mainline and reform eugenics can be only partially supported by the sources. This has become increasingly apparent during the last ten years, where a different kind of source material has been used, particularly in studies of eugenics in Scandinavian countries. Detailed studies of client files from asylums, hospitals and mental institutions have shown that the arguments for sterilising were much more complex than expected. Heredity, social, forensic and moral circumstances merged in the arguments that were put forward to justify sterilisation of those considered unfit. Thus, although some theoretical treatises might fit the proposed analytic distinction between mainline and reform eugenics, the arguments used in practical life were muddy (Haave 2000; Koch 1996, 2000; Runcis 1997; Tydén 2000). These studies indicate that eugenics in practice was more complex and had different meanings from today. At the same time, they show that there are difficulties in finding clear criteria to divide the practices of the past from those of the present.
Eugenics and the science of genetics This new appreciation of historical complexity also blurs other distinctions which some recent commentators have attempted to draw between the past and the present. These turn on the contribution of ‘good science’, and especially genetics at various stages of its development, to the support of eugenics in different times and places. Modern geneticists, for example, often propose the existence of scientific evidence for any kind of medical intervention to be the point that marks the difference between eugenics and medical genetics. The literature about German Rassenhygiene as well as American mainline eugenics often highlights examples of supposed heritable traits and ridicules their obvious lack of scientific credibility. And it is true that human traits commonly targeted by eugenics (such as mental retardation or moral deviation) were illdefined and had little if any relation to simple Mendelian inheritance. However, eugenic legislation was often supported by leading scientists, university professors and established physicians who lent their reputations to legitimising its scientific validity. Eugenic treatises were written by highly respected scientists, and even though their scientific work does not live up to modern standards, the same could be said of a considerable amount of scientific work of the past – and probably of much of today’s science if scrutinised 50 years from now. Of course, the scientific basis for eugenic intervention such as sterilisation or abortion was incomplete and relatively imprecise. The geneticists of the 1930s had to rely on family pedigrees in order to estimate the risk of a recurrence of the disease in the next generation. This set natural limits to the degree of certainty with which risk could be determined. But we should not make the error of judging the past according to the scientific standards of the present. Similar problems abound in modern predictive genetic medicine. Even though genetic tests on a molecular basis can now be made in a number of cases, the certainty of these tests is rarely 100 per cent. Reduced penetration, large numbers of mutations, and other features reduce the specificity and sensitivity of many current genetic tests. Though the decisions 441
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to take such tests are voluntary, they still take place within a normative public health context favouring prophylaxis, and though not always explicitly recommended, they are often supported and almost always executed by physicians. The attempt to distance current practice from past eugenic measures is complemented by a widespread concern that society may experience a ‘new eugenics’ as a result of application of new genetic technologies (see Habermas 2001). Powerful new methods of assisting reproduction and prenatal testing – such as in vitro fertilisation, amniocentesis and genetic testing – have created unforeseen possibilities for medical technological control, including quality control, of offspring. Screening pregnant women and newborn children for various hereditary (as well as acquired diseases) could also be considered eugenic – if such tests ultimately aim to select a better quality offspring. Numerous attempts have been made by scientists and politicians alike to deny any relationship between eugenics in the past and the new genetics (see Müller-Hill 1984; Weingart et al. 1988). Eugenics is most often identified with compulsion, bad science and state control of reproductive matters. Eugenics, in this view, represented an attempt by the state to use genetic knowledge to improve the biological quality of the population and reduce public spending on unproductive citizens. In contrast, the new genetics is allied with the norms of modern bioethics and legitimated with reference to the principles of informed consent and individual rights. Reprogenetic technologies are considered a means for controlling nature in order to avoid suffering and disease. However, there is a complex relationship between past and present, with continuities as well as discontinuities. There is in fact no reason to believe that the new genetics represents a radical transformation and a break with previous medical practices, and that it brings instant reproductive freedom to its users. Critics argue that despite the predominant formal bioethical framework of informed consent favouring individual and voluntary decision-making, cultural pressures and informal forms of coercion, such as social expectations or economic considerations, shape individual choices towards a common norm. The result is a ‘back door’ eugenics (Duster 1990; see also Lippman 1991). Both sides in the conflicts on the uses of the new genetic and reproductive technologies tend to be united, however, in their common understanding of eugenics as evil. This tends to reduce debate to assertion that a particular application is eugenic (bad) or noneugenic but otherwise possibly beneficial (good) (Paul 1996). A more fruitful approach might be to look at past and present uses of genetics and reproductive technologies as two historically specific, knowledge-based ways of governing medical decisions, two forms of biopower (Rose 1999). Do these two forms of biopower represent two different historical epochs, one succeeding the other? If so, it is still clear that social, political and ethical norms of the present interact with past and present discourse about the uses and abuses of reprogenetic technologies, thus shaping current interpretations of the history of eugenics. This interpretation shapes efforts to avoid the uses of reproductive and genetic technology that are considered most dangerous for the future. The multiple meanings of the term ‘eugenics’ remain crucial elements in these interpretative manoeuvres (see Koch 2004).
Eugenics and the state – the Scandinavian experience The recent historical studies of eugenic practice have shown that the goals of eugenics were concerned with more than the genetic perfection of the population. Concern for the social welfare of the population seems to have played a major part in stoking eugenic 442
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ambition. Attempts to reduce the economic burden of the unfit on the public purse must be seen as an aspect of this social ambition. This is especially apparent in the history of eugenics in Scandinavian countries, where progressive reform movements argued that the uncontrolled reproduction of the unfit would burden the emerging welfare state and that negative eugenics was necessary to avoid growth in the number of welfare recipients. The fact that Scandinavian countries carried out eugenic sterilisation programmes has often evoked surprise, indignation and comparisons with Nazi Germany. This was the case, for example, in 1997 when it became internationally known that Sweden had sterilised about 60,000 citizens under its eugenically motivated sterilisation laws (Broberg and Tydén 1999). The reaction stems from the assumption that eugenics is a reactionary or even totalitarian political programme, associated with more or less racist attempts to purify the gene pool. But eugenics-inspired legislation commanded a range of progressive support in Scandinavia. One factor was that before the first eugenic legislation on sterilisation and abortion was passed in the northern European countries, both operations were illegal except for the strictest medical indications. This encouraged support for eugenic moves by socialists and feminists, who saw the sterilisation and abortion laws of the 1930s as an attack on the religious prohibition against intervention in human reproductive processes. Of course, this served to increase the state’s power to control the reproductive conduct of the population. It took decades before full reproductive control came within the reach of the individual citizen. Nevertheless, the legalisation of eugenic abortion and sterilisation may be seen as important steps in the direction of a liberalisation of the individual’s access to reproductive control. Planned Parenthood, Voluntary Motherhood and similar movements must also be considered eugenic. It may seem incongruous that compulsory sterilisation was part of the welfare policy of the Scandinavian social democracies, but both socialists and feminists initially considered the antisocial elements of the Lumpenproletariat a threat to a morally, socially and economically ordered society. In their pursuit of this version of welfare, Scandinavian eugenicists relied on both voluntary and compulsory means. The pioneering Danish sterilisation Act of 1929 – the first in any European nation – required the consent of the person to be sterilised. In 1934 and 1935 sterilisation Acts warranting voluntary as well as compulsory sterilisation were passed in Denmark, Norway and Sweden. In all three countries, however, voluntary means were considered the basis for a eugenic policy, even though compulsion was also written into the statutes. This brand of eugenics was based on a model of citizenship that expected responsible citizens to act in the interests of society by seeking sterilisation in case of a high risk of hereditary disease transmission – a model not so far distant from ideas of ‘responsible reproduction’ which arise in some modern discussions of genetic counselling. In Scandinavia before World War II, such responsibility could only be exerted with a licence for eugenic abortion or sterilisation – a licence it was now possible to obtain from the eugenic state. Compulsion was reserved for cases where social responsibility, expressed as readiness to control one’s own reproduction, could not be expected. This was assumed to be true for groups of people considered ‘asocial’ or ‘antisocial’, such as the mentally handicapped, psychopaths, tramps and prostitutes. Compulsory measures were justified in two ways. One was the fear that the offspring would become a burden to society because of the parents’ social inadequacy; the other was the fear of bad heredity. Today, similar restraints of the reproductive pattern of certain social groups such as the compulsory removal of children from unfit parents, and preventing their access to reproductive 443
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technologies, exist in both Great Britain and Scandinavia. The means used are not surgical, but the political motives and social results are comparable (Human Fertilisation and Embryology Authority 2004; Denmark 2006; Norway 2005). Sterilisation which uses direct physical force has not been documented in any of the historical studies referred to above, but the threat of indefinite institutionalisation usually sufficed to make the unfit volunteer for sterilisation. Thus compulsion and voluntarism existed side by side. Thus compulsion cannot be considered the constitutive feature of negative eugenics, even in its early days. Eugenics as it was executed in Scandinavian countries was concerned with the interests of the community, and to serve this goal it limited the individual rights of some people and extended the rights of others. Some people were governed through particular widely endorsed notions of freedom and responsibility, others through more authoritarian and disciplinary means. So we must recognise that in Scandinavian countries eugenics was supported by a broad political alliance and its legislation had democratic support. The legislation was introduced by the Social Democrats, voted in by comfortable majorities in parliament and supported by large segments of the public, including leading socialists and feminists. Thus eugenics cannot be associated exclusively with totalitarian societies nor the reactionary or conservative right. Leading Social Democratic politicians used explicit eugenic arguments to gain support for a comprehensive welfare reform, which has had lasting influence on the whole social political landscape. In Sweden Gunnar and Alva Myrdal – both important ideological forces behind the Swedish welfare programme – openly advocated eugenics. This, of course, does not mean that the Scandinavian Social Democrats were Nazis at heart but rather that eugenics – for good or ill – was an integral element in building the Scandinavian welfare states. So while racial motivations were visible in Scandinavia, they were not the main driving force behind the legislation. Some eugenicists did express anti-Semitic views – notable cases in Sweden were the first head of the Uppsala Institute of Racial Biology Herman Lundborg and the Lundian gynaecologist Elis Essen-Møller (Broberg and Tydén 1991). In addition, all Scandinavian countries were concerned about their small ‘racial’ minorities such as gypsies and Lapps. But although much theoretical work was done on these allegedly unworthy minorities, it has been difficult to document that racism and anti-Semitism were more than ephemeral characteristics of eugenic practices in the Scandinavian countries. Norway provides a good example of this. Here the muchpublicised work of the Christian Omstreifermissionen (the Vagrant Mission), which advocated sterilisation of gypsies turned out to have no correlate in practice. Thus fewer than 100 gypsies were sterilised in Norway, and only in a handful of cases were the arguments related to their ethnic origin (Haave 2000). In Denmark, in a study of Danish gypsies from 1943, prominent eugenicist physicians publicly denounced Nazi theories on the genetic inferiority of this minority (Koch 1996). The Scandinavian experience casts further light on the role of the state as an actor in eugenic practices. This deserves further study as state action, in service of clear populationpolitical goals, is often seen as a constitutive political feature of eugenics and often contrasted with current notions of the importance of individual self-determination in reproductive matters. The histories of eugenic sterilisation in the Scandinavian countries show that the concept of the state must be refined. States were not single actors, with a monolithic view. Rather, a complex ensemble of public agencies implemented eugenic sterilisation legislation differently. Indeed, they often fought each other’s decisions, and sometimes eugenic decisions made by one state agency were overturned by another. In spite of a 444
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general commitment to a eugenic sterilisation policy, disagreement could occur at any step on the path to an individual sterilisation: in the interpretation of genetic theory, evaluating the heredity of a certain phenotype, selecting the patient for sterilisation, and documenting the quality of individual consent. So the state as it appears in recent Scandinavian studies of eugenics is a fragmented and complex unit, which did not always act in harmony. Second, the political intentions of the state are highly complex and one often fails to see a common political direction connecting the various fragmented state actors. Thus Scandinavia shows that we may not assume that eugenics in practice was at all congruent with the officially stated political goal – and other countries’ histories are equally complex on examination (Tydén 2000). In these northern European countries this observation becomes more obvious as we approach the 1960s and 1970s. At this time sterilisation practices were only vaguely associated with the political intentions behind the original legislation. In Sweden, the sterilisation Act of 1941 was primarily used on a broad social–medical indication to sterilise ‘worn-out’ mothers, with no other way to control childbirth. When it came to the more narrow eugenic intention of reducing the frequency of deleterious genes in the population, public and scientific opinion was divided in the 1930s. In the mid-1920s the internationally renowned Copenhagen plant physiologist Wilhelm Johannsen – the man who originally coined the terms ‘gene’, ‘genotype’ and ‘phenotype’ – argued that such benefits could hardly be expected. Ten years later, when the permanent sterilisation laws were enacted, the scientific community was more optimistic, but even at this time eugenics had multiple meanings. Some thought in terms of narrow Mendelian genetics, others in broader biometrically inspired terms, aiming at social control. But common to all scientists and politicians was the wish and hope that the biological, as well as social, quality of the population would eventually improve. Such explicit motivations were, however, rarely put forward in the practical decisions of eugenic administrators. Their motives were much more practical and plain. Those regarded as mentally retarded should be sterilised because they reproduced their defects, whether by genetic or social transmission. Bad parents were as undesirable as bad genes.
Conclusion Consideration of eugenics and its history highlights contradictory aspects of the relations between genetics, public health, populations and individual decisions. Today, use of genetic technologies is legitimated through individual choice and informed consent. Information is provided by genetics professionals who affirm the principles of nondirective counselling. However, in spite of this, most clients tend to make similar choices (Paul 1996, 1999). Thus our private and free decisions may, when aggregated, actually result in an improvement of the gene pool. Equally, they may also function dysgenically, as is the case with cystic fibrosis. Here genetic counselling and testing has made it possible for couples who are both carriers to have healthy children who are nevertheless themselves carriers of the recessive cystic fibrosis gene, thus leading to an increase of the frequency of CF alleles in the population. Cost–benefit considerations can be seen as an ethically problematic eugenic motive. But health care planning still uses cost–benefit calculations as a matter of course. As economic welfare considerations were in the forefront in the 1930s, similar views have been articulated in recent discussions of genetic screening. In Scandinavian countries 445
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there is ample evidence that in the 1970s the state wanted to use prenatal genetic testing of pregnant women to save money on institutionalising the handicapped (Nielsen et al. 2000). In the age of ultrasound and nuchal translucency screening, however, economic calculations also govern decisions about cut-off points and which pregnant women to offer diagnostic tests (Schwennesen et al. forthcoming). Similarly, in the 1930s eugenicists repeatedly argued that eugenic sterilisation had a clearly humanitarian motive as it made possible the release of previously institutionalised mentally retarded individuals. In 1934 the Danish Social Democrat and Minister of Social Affairs Karl Kristian Steincke put it this way: ‘To incarcerate people in institutions for life is inhumane and not economical … for that reason we should choose another way out and sterilise these people before they are released. This is humane’ (quoted from Koch 2000). So today it is argued that prenatal diagnosis is relevant out of concern for the social situation of the mother rather than that of the child. How does this affect our view of popular worries about a ‘new’ eugenics to follow the human genome-mapping project? These tend to go along with viewing eugenics in the past as unequivocally and uniformly bad – whether it took place in Sweden, the USA or Germany. But we know now that eugenics was voluntary and compulsory, both sciencebased and prejudiced. It took place in democratic welfare states such as those in Scandinavia, in more liberal societies such as the USA and in totalitarian dictatorships such as Nazi Germany. Today, eugenics is something few would want to see realised, but we should appreciate that it was originally a focus of a widely held hope for a better and healthier population. The definition of ‘better and healthier’ may no longer embrace the elimination of socially, morally and genetically undesirable elements as defined by the early eugenists, but the hope for better health still underpins the rationale for genetic applications.
Acknoledgements The author wishes to thank Pat Spallone and Jon Turney for their help in preparing this chapter.
References Broberg, G. and Tydén, M. (1991) Oönskade i Folkhemmet. Värnamo: Gidlunds. —— (1999) ‘Introduction’, Scandinavian Journal of History, 24: 141–3. Denmark (2006) Law on assisted reproduction (Lovbekendtgørelse om kunstig befrugtning: LBK 923), Copenhagen. Duster, T. (1990) Eugenics through the Back Door. London: Routledge. Favereau, E. (1996) ‘Stérilisation: le non-droit sort du non-dit. En Gironde, une étude montre qu’une handicapée mentale sur trois est stérilisée’, Libération, 15 May. Galton, F.R.S. (1883) Inquiries into Human Faculty and its Development. London: Macmillan. Haave, P. (2000) Steriliseringer af Tatere 1934–77. Oslo: Norges Forskningsråd. Habermas, J. (2001) Die Zukunft der menschlichen Natur. Frankfurt am Main: Suhrkamp Verlag. Human Fertilisation and Embryology Authority (2004) Tomorrow’s Children. Report of the Policy Review of Welfare of the Child Assessments in Licensed Assisted Conception Clinics. London: HFEA. Kemp, T. (1951) Genetics and Disease. Copenhagen: Ejnar Munksgaard. Kevles, D. J. (1986) In the Name of Eugenics. Harmondsworth: Penguin.
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Koch, L. (1996) Racehygiejne i Danmark. 1920–1956. Copenhagen: Gyldendal. —— (2000) Tvangssterilisation i Danmark 1929–1967. Copenhagen: Gyldendal. —— (2004) ‘The meaning of eugenics. Reflections on the government of genetic knowledge in the past and the present’, Science in Context, 17, 3: 1–17. —— (2006) ‘Past futures. On the conceptual history of eugenics – a social technology of the past’, Technology and Strategic Management, 18, 3/4: 329–44. Kühl, S. (1994) The Nazi Connection. New York: Oxford University Press. Lippman, A. (1991) ‘Prenatal genetic testing and screening: constructing needs reinforcing inequities’, American Journal of Law and Medicine, 17: 15–50. Müller-Hill, B. (1984) Tödliche Wissenschaft. Hamburg: Rowohlt. Norway (2005) Law on medical uses of biotechnology (Lov om Humanmedisinsk Bruk av Bioteknologi), Oslo. Paul, D. (1996) Controlling Human Heredity, 1865 to the Present. New Jersey: Humanities Press. Rose, N. (1999) The Powers of Freedom. Cambridge: Cambridge University Press. Runcis, M. (1997) Steriliseringar i folkhemmet. Stockholm: Ordfront. Schwennesen, N., Koch, L. and Svendsen, M.N. (forthcoming) ‘Practising informed choice. Decision making and prenatal risk assessment’, in Hansjakob Müller and Christoph Rehmann-Sutter (eds) Disclosure Dilemmas. Ethical Issues of Information in Genetic Counselling. Aldershot, UK: Ashgate. Searle, G.R. (1976) Eugenics and Politics in Britain. Leyden: Noordhoof. Tydén, M. (2000) Från Politik til Praktik. De Svenska Sterilisationslagerne 1935–75. Stockholm: SOU. Weingart, P., Kroll, J. and Bayertz, K. (1988) Rasse, Blut und Gene. Frankfurt am Main: Suhrkamp Verlag. Zylberman, P. (2001) ‘Eugenics, science and the Nordic welfare state, including a short glimpse of France’, paper presented at the conference ‘Eugenics and Sterilisation in Scandinavia 1934–2000’, Oslo.
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31 Human dignity and biotechnology policy Ubaka Ogbogu and Timothy Caulfield
The concept of human dignity has a long and varied history. It was used in ancient Rome to refer to individuals of high social status. Christian commentators have used the term to refer to the special relationship between humans and God. In the realm of human rights, it refers to the inherent worth of humans and serves as foundation for human rights. And in common parlance, it can be used to describe poise and virtuous conduct. Concerns for human dignity have been a central focus of debates about the propriety of various biotechnologies and related activities such as human cloning and the patenting of human genetic material. The term has also been frequently used as primary rationale for policy action. Despite this, a concrete definition of the term remains elusive, and contested views of its normative relevance to science policy abound. This chapter explores and critiques the use of human dignity as a justification for a variety of biotechnology policies and positions, and provides a comprehensive account of ongoing debates about the role of human dignity in assessing and regulating emerging biotechnologies.
1 Introduction Since the start of the Human Genome Project in the late 1980s, there have been ongoing concerns about the impact of genetic research on society. Issues that have attracted significant social debate include the possibility of genetic discrimination, the patenting of human genetic material and geneticisation of disease and health care. Related areas of biotechnology, such as stem cell research and cloning, elicit similar social reactions. Indeed, rarely, if ever, have scientific activities been so closely scrutinised by the international policy-making community. In many jurisdictions, legislation has been enacted to prohibit some forms of biotechnology research, such as somatic cell nuclear transfer and human embrionic stem cell (hESC) research (Canada 2004; Isasi and Knoppers 2006; Italy 2004; Norway 2003). While the justification for regulatory actions vary, the concept of human dignity often lies at the heart of much of this policy activity. The concept is explicitly mentioned and often accorded normative impetus in national and 448
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international biotechnology policy instruments (Canada 2004; Council of Europe 1997, 1998; Norway 2003; United Nations 2005; UNESCO 2003, 2005). For example, the protection and promotion of human dignity is expressly mentioned in the declaratory principles of Canada’s reproductive technologies legislation, the Assisted Human Reproduction Act (which also regulates activities such as hESC research) (Canada 2004). However, the meaning or relevance of the concept, as we shall see, is rarely or ever articulated or explained in these policy instruments. This has led to increased academic interest in the concept, particularly in the context of its application to science policy. In this chapter, we explore and critique how human dignity has been used in policy debates and in the regulation of various areas of biotechnology. The chapter starts with a brief discussion of the meaning and history of human dignity and an overview of its role in science policymaking. Next, we explore several ways in which the concept has been canvassed in academic and policy discussions on various biotechnology-related activities. The chapter concludes with a brief critical reflection on the relevance of human dignity as a justificatory principle in biotechnology law and policy.
2 Defining ‘dignity’ The concept of ‘human dignity’ has a long and varied history. It is a term that has not been used in a consistent manner, either philosophically or politically (Caulfield and Brownsword 2006). Even in common parlance, the term ‘dignity’ can mean many different things, from a reference to character and virtuous conduct to a description of personal poise. This makes the provision of a coherent ‘definition’ near impossible. For example, in ancient Rome, dignity was used to describe the inherent qualities of individuals of high social standing. In this context, dignity was a quality possessed by very few. Its use not only reflected the status of those with dignity, but was also a comment on the status of the imperial state (Englard 1999–2000; McCrudden 2008). For religious commentators, particularly Christians, the term has been used to describe the relationship between humanity and God – a relationship that makes humans unique in the animal kingdom and imparts ‘sacred value or worth to all human life’ (Jacobson 2007: 293). This lack of definitional coherence or certainty renders the concept very imprecise, although its use in philosophical and academic reflection has gained some sophistication over time. Of course, dignity has also played a central role in the work of seminal philosophers, including Kant and Mill. For these philosophers, and many others, dignity was the foundation for philosophical discussions about the moral status of humans and, concomitantly, the basic rights of humans. For example, a version of Kant’s much-celebrated categorical imperative holds that dignity is an intrinsic part of the human person, and is derivable from the human capacity for moral thought and action. This ‘special property of mankind’, in the Kantian view, commands reciprocal respect among fellow human beings and amounts to an obligation or duty to treat the human being as an end, and not as mere means (Beyleveld and Brownsword 2001; Hayry 2005). In the twentieth century, appeals to human dignity have greatly informed the development of human rights, particularly in reaction to the atrocities of Nazi Germany (Jacobson 2007). Since then, it has played a key role in a wide variety of political and human rights movements. McCrudden notes that the term 449
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was a central organizing concept in the civil rights movement in the United States, and in the articulation of feminist demands concerning the role of women…in discussions of reproductive rights, in campaigns on the issue of appropriate treatment at the end of life, and in the issue of genetic manipulation. (McCrudden 2008: 663) The term is also used as the foundation for many national laws and in a variety of contexts ranging from a norm of constitutional law to the regulation of socially controversial practices and technologies (Isasi and Knoppers 2006; McCrudden 2008; Macklin 2003). However, as stated above, many such laws refer to the term with little or no guidance on its meaning or relevance as a concept commanding legal authority. While there is some disagreement on the meaning and relevance of the term among philosophers and legal commentators, most would agree that, at a minimum, the concept is closely related to the intrinsic worth of all humans – a notion enshrined in the United Nations’ Universal Declaration on Human Rights which acknowledges the ‘inherent dignity’ and ‘equal and inalienable rights of all members of the human family’ (United Nations 1948). The Declaration continues, echoing the flavour of Kant’s categorical imperative: ‘All human being are born free and equal in dignity and rights. They are endowed with reason and conscience and should act towards one another in a spirit of brotherhood’ (United Nations 1948: Art. 1). In this reading, human dignity is an engine of individual empowerment, reinforcing individual choice and the right to self-determination (Beyleveld and Brownsword 2001; Brownsword 2003, 2004). Indeed, until recently, the post World War II use of dignity has largely been a guard against incursions on individual liberty, be that through strengthening of positive or negative rights. Dignity is therefore used to recognise and buttress the rights of individuals, including such specific rights as the right to abortion, physician-assisted suicide and, more significantly, the right to informed consent. A related notion of human dignity that relies on the intrinsic worth of all humans is the idea that the concept encompasses certain values worthy of human respect. These values often signify some form of social ethos or group consensus, particularly on matters to which an appeal to respect for individual rights is either inapplicable or tenuous. Dignity in this sense is therefore harnessed in response to concerns about the disruption of social accord, or in the rejection of actions deemed offensive to a group or community’s sense of propriety (Jacobson 2007). For example, such appeals to dignity can be inferred from objections to the use of cadavers for medical teaching purposes, which, as Macklin notes, ‘has nothing to do with the dignity of the dead body and everything to do with respect for the wishes of the living’ (Macklin 2003: 1420). This view of dignity has been criticised as amounting no more than ‘tyranny of the (moral) majority or of the influential (moral) minority’ (Beyleveld and Brownsword 2001: 45) and as hardly attainable in pluralistic societies. While there is, and will always be, an enduring lack of clarity about the nature and source of human dignity, the notion of the intrinsic worth of humans has long been at the core of discussions about dignity, particularly in the realms of law and science policy. Recently, however, the term has been employed in condemnation of scientific technologies such as genetics, stem cell research and cloning. For example, President Bush has invoked the term in relation to a range of biomedical policies, including a ban on human cloning and embryonic stem cell research (Bush 2002). Likewise, some academic commentators, sometimes called ‘bioconservatives’, rely on the term in condemning 450
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human enhancement technologies, such as cloning and inheritable genetic alteration of humans (Bostrom 2005). Many of the current uses of dignity rarely attempt to articulate its meaning or state the exact way in which dignity is threatened. Often, the term appears to be used as a slogan or an articulation of undefined moral angst (Caulfield 2003a). For example, Caulfield, commenting on human reproductive cloning, notes that ‘[f]or a good percentage of the public, human reproductive cloning simply seems immoral and, for lack of a better philosophical argument, it is declared that it infringes human dignity’ (2003a). Alternatively, as in the case of embryonic stem cell research, dignity is used to imply a social consensus that has not been shown to exist. While some may believe that embryos have full moral status, in which case their dignity would clearly be infringed by stem cell research, others in the community do not attribute moral status to embryos (Nisbet 2004). This lack of precision in use has led some commentators to question the substantive value of human dignity in the realm of bioethics and policy development. For example, Ruth Macklin famously claimed that ‘[d]ignity is a useless concept in medical ethics and can be eliminated without any loss of content’ (Macklin 2003: 1420). Others have argued that its inappropriate use can be an oppressive force, silencing open debate (Caulfield and Chapman 2005).
3 Applications of human dignity to biotechnology Below, we consider how the concept of dignity has been used in relation to biotechnology, specifically in embryonic stem cell and cloning research, chimera research, the banking of human biological materials (biobanking), and human gene patents. Our goal is to provide a synoptic but comprehensive overview, focusing mostly on international trends rather than the dignity discourse in any particular jurisdiction. We hope to simply highlight contensted uses of human dignity in the context of various biotechnology policy debates. Human embryonic stem cell research and cloning In the past decade, the propriety of creating human embryos and/or using supernumerary embryos from fertility treatments for stem cell research has been the single most contentious issue in biotechnology research. While advocates of the research urge its potential to revolutionise medicine by providing cures for currently incurable afflictions, opponents contend that the inevitable destruction of the embryo in the research process violates the moral status of the embryo. Many countries and international institutions have reacted to the controversy through legislation that can be broadly categorised into three governance schemes: (a) permissive regulatory regimes allowing researchers to pursue therapeutic cloning of and research on supernumerary human embryos subject to licensing requirements; (b) outright prohibitions or qualified restrictions of the research (by allowing only research using supernumerary human embryos); and (c) an almost universal condemnation and prohibition of human reproductive cloning (Caulfield 2003b; Isasi and Knoppers 2006; Jones and Towns 2006). Apart from the moral status concerns, a central argument advanced by those who oppose any form of research on embryos is that the technology offends human dignity. Put otherwise, creating or using supernumerary human embryos for research is an affront 451
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to dignity, and as such, the technology should not be allowed to proceed. Again, this dignitarian stance is often expressed in legislation and policy without much examination of why the research confounds human dignity, or, if examined at all, dignity is relied on as a proxy for protecting the moral status of the embryo (Brownsword 2003). Also, similar to the approach taken by advocates of the moral status position, this view of dignity often results in the wholesale rejection of all forms of embryo-based research, irrespective of whatever value or benefit might accrue from the research (Brownsword 2003; Isasi and Knoppers 2006). By contrast, the position taken by proponents of therapeutic cloning and hESC research can be viewed from a human rights perspective of human dignity. According to this view, since the embryo has neither moral status nor human rights worth protecting, there is no direct violation of its human dignity, or of the dignity of extant rights-holders (that is, so long as applicable research ethics norms and guidelines are complied with in procuring the embryos from donor rights-holders) (Brownsword 2003). Unlike therapeutic cloning and hESC research, a social conception of human dignity has emerged in the universal condemnation of human reproductive cloning (Council of Europe 1998; United Nations 2005). For example, the unanimously carried United Nations Declaration on Human Cloning calls on members ‘to prohibit all forms of human cloning inasmuch as they are incompatible with human dignity and the protection of human life’ (United Nations 2005). However, this instrument, much like others on the subject, does not provide further explanation or understanding of how dignity is implicated or compromised in the cloning context. Without any solid theoretical or philosophical underpinning on which to stand, the flavour of moral universalism inherent in this use of human dignity adds nothing more to a reasoned understanding of the dangers of human reproductive cloning. Chimeras Chimera research involving the transplantation of human stem cells into nonhuman embryos (or nonhuman cells into human embryos) presents the newest addition to the dignity debate. Much like cloning, many jurisdictions prohibit the creation of embryonic stage chimeras (Australia 2002; Canada 2004), thus acknowledging the existential propriety of ‘mildly chimeric creatures’ of the postnatal variety (e.g. humans with pig heart valves) (Degrazia 2007: 309). Beyond chimeras, the creation of pre-embryonic human– animal hybrids for research has recently attracted the attention of regulators in some jurisdictions and provoked intense debates between scientists and opponents of the research (Henderson 2007; Roberts 2007; Simple 2007; UK Human Fertilisation and Embryology Authority 2007). Within the context of biotechnology, the goal of creating chimeras is more likely for research rather than reproductive purposes. Few would disagree that creation of chimeras strictly for research would likely cause less social angst than their creation for reproductive purposes. Indeed, a tenable view might hold that where the goal of creating chimeras is solely to study stem cell development or disease aetiology, the research ought to be viewed in a similar vein as therapeutic cloning or perhaps, in an even less controversial light, as no human reproductive material is used in research. Allowing or restricting chimera creation would therefore depend on each jurisdiction’s view of embryo research in general. One might even argue that there is reason to be much more receptive to chimeric creations involving the mixing of human cells with nonhuman embryos or 452
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cells, since such research does not give rise to the objections raised to the destruction of human embryos for research. This notwithstanding, existing prohibitions on chimera creation are usually widely drawn to exclude creation for any purpose whatsoever (Australia 2002; Canada 2004). In this regard, the basis for a dignitarian objection to chimera creation moves beyond vesting dignity on the human embryo to claims that we can extend human dignity to protect creations that possess human cells. Here, there is a major division between those who hold anthropocentric views of dignity and those who reject them. For anthropocentrics, dignity is innately human and vested in, among other things, our human qualities and forms (Annas 2005; Cohen 2003; Degrazia 2007; Karpowicz et al. 2005). Anthropocentrics maintain that the special qualities of humanness (such as psychological traits and linguistic capacity) invest us with higher moral status than nonhuman animals and set us apart from other species. Therefore, to pass on our human qualities to a different species or to dilute or ‘alter the essence of humanity’ (Annas et al. 2002: 153) violates our integrity as a species, and as such is an affront to dignity. Another version of the anthropocentric view, while denying that moral status rests exclusively on species membership in Homo sapiens, holds that human beings claim moral status simply because they are human (Robert and Baylis 2003). According to the latter view, this claim can be staked against less powerful other beings, such as nonhuman animals, because their moral status derives only from human allowance. However, similar to the species membership and integrity view, technologies such as chimera creation that seek to introduce human materials into nonhuman animals are threatening because they ‘introduce inexorable moral confusion in our existing relationships with nonhuman animals and in our future relationships with part-human hybrids and chimeras’ (Robert and Baylis 2003: 9). Those who reject the anthropocentric positions contend that the reasoning is merely based on species prejudice (Degrazia 2007). For example, Degrazia argues that ‘[t]o single out species as the unique biological basis for moral status is as silly intellectually as it is self-serving for those in whom species prejudice operates strongly’ (2007: 314). Also, the idea that dignity is innate in human qualities raises the question of why it is lacking in nonhuman animals that possess some human-like qualities. Anthropocentrics might counter by stating that humanness is a whole, not a sum of parts. This argument, however, contradicts the position that transfers of human materials to nonhuman animals, even at the cellular level, also violate human dignity by creating a new species with humanlike qualities. The claim that dignity is innate in the human being and forbids dilution or transfers of human qualities explains why legal prohibitions are the preferred route to regulating chimera creation. The purpose of such prohibitions appears to be the protection of human life in its current form, or to address concerns that the technology might give rise to a new species that somehow threatens the ‘cherished quality of being human’ (Degrazia 2007: 313). However, it is unclear how human dignity would be violated or threatened by increasing the number of individuals or species with dignity (Bostrom 2005). It is not meant to suggest here that reproductive cloning and chimera research do not pose serious ethical and social questions; rather, it is unclear why a transfer of some innate human qualities would erode our humanness, or somehow render the recipient of those innate qualities intolerable and less deserving of dignity than our species. Indeed, some commentators, most notably Peter Singer, have questioned the notion of human distinctiveness as a foundational basis for the award of rights, calling it mere ‘speciesism’ (Singer 2002). Singer has urged ‘we extend to other species the basic principle of equality 453
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that most of us recognize should be extended to all members of our own species’ (Singer 2002: 148). Another anthropocentric claim holds that since dignity is based on our common human nature, genetic technologies which seek to alter the latter undermine human rights and equality, because both concepts are grounded in human dignity (Annas 2005; Fenton 2008). Put simply, genetic technologies like chimera research that seek to alter our humanity are direct violations of human rights and equality. However, proponents of this view fail to account for what specific human rights would be threatened by the technologies in question, or even how the end result of these technologies will compromise equality among humans. It is also not clear if this view makes a distinction between humanity-altering technologies that seek to produce research models (which will be destroyed in the research process) and the creation of living posthuman species. Indeed, some advocates of this position have expressed concerns about future relations between human and posthuman species, predicting that their differences might lead to exploitation and enslavement of the species considered inferior (Annas 2005; Annas et al. 2002). This suggests that the fear of human rights violations are merely speculative and based on the possibility of a state of affairs that is more imagined than real. Also, the basis for relying on dignity as a foundation for human rights in this context appears to be merely biological, in which case the position succumbs to the criticisms of the species integrity argument outlined earlier (Fenton 2008). Biobanks A corollary of the increasing need for human tissue in biotechnology and genetic research is the increased reliance on the banking of human biological materials (Andrews 2005). Today, many large-scale biobanks exist as repositories of materials collected from a large number of individuals, and provide a valuable resource for numerous scientific projects and population genetic studies. Biobanking raises profound ethical, legal and social questions ranging from the protection of donors’ biological information and interests in donated samples to the control and distribution of benefits from donated tissues (Andrews 2005). While policy initiatives have been fairly successful in addressing many of these questions, one issue that continues to baffle commentators and policymakers alike is how existing informed consent norms and processes ought to be applied in the biobanking context. According to existing consent norms, consent must be obtained from human participants (including tissue donors) for each new research project involving the use of banked tissues, particularly when genetic information is linked or linkable to the identity of the individual research participant (UNESCO 2003; WHO 2003). For example, the International Declaration on Human Genetic Data adopted by the United Nations Educational, Scientific and Cultural Organisation (UNESCO) states that ‘[p]rior, free, informed and express consent … should be obtained for the collection of human genetic data, human proteomic data or biological samples … and for their subsequent processing, use and storage, whether carried out by public or private institutions’ (UNESCO 2003: Art. 8). The Declaration further states that ‘[w]hen human genetic data, human proteomic data or biological samples are collected for medical and scientific research purposes, consent may be withdrawn by the person concerned unless such data are irretrievably unlinked to an identifiable person’ (UNESCO 2003: Art. 9). These requirements provide donors or research participants the opportunity to be truly informed about the specific research use 454
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to which their tissues will be put, and allows them to specifically consent to that use. However, biobanking projects do not usually identify a specific research purpose for tissue collection. For large-scale biobanks and population studies such as UK Biobank and Iceland’s deCODE Genetics project, obtaining specific consent from tissue donors would pose a massive financial and logistical hurdle (Austin et al. 2003; Cambon-Thomsen 2004; Ingelfinger and Drazen 2004; Rumball and Smith 2002). Two alternative approaches to obtaining informed consent in the biobanking context have emerged in policy reforms and discussions around the world. The first is a blanket consent approach, which allows for one-time consent to be obtained from research participants to any future use of their donated tissues (Caulfield et al. 2003; HUGO 2002; Rumball and Smith 2002). The other relies on a system of presumed consent, as has been done in Iceland, whereby participants’ consent to the use of their samples is presumed subject to an opt-out clause (Canellopoulou-Bottis 2005; HUGO 2002; Iceland 1998). While these approaches understandably attempt to provide a more conducive climate for the advancement of scientific research, both approaches have been criticised for being a fundamental departure from, and erosion of a consent norm designed to protect the autonomy rights of research participants. A recent World Health Organisation (WHO) report on the impact of genetic databases on human rights summarises the dilemma as follows: We have, then, a fundamental tension between the possibility of considerable public good on the one hand, and the potential for significant individual and familial harm on the other. The basic interests that lie in the balance are those between human dignity and human rights as against public health, scientific progress and commercial interests in a free market. (WHO 2003: 3) It can be inferred from the latter statement that the need to obtain consent arises from joint notions of human dignity and human rights. This reference to human dignity echoes its usage in post-Holocaust human rights instruments (e.g. the Universal Declaration on Human Rights, Nuremburg Code, Helsinki Declaration, etc.) whereby human dignity is viewed as a foundation for human rights. Under this formulation, individuals have rights, such as the right to make autonomous decisions, because they have dignity. Dignity in this case relates to the inherent worth of humans, or as a principle of individual empowerment from which the right of self-determination flows. This view of dignity is arguably the least contentious use of the term as it espouses a value (that human beings have intrinsic worth) that many would agree is worthy of respect and protection. Also, the practical expression of this abstract value amounts to the protection of identifiable human rights, thus creating ‘a context in which dignity can be realized in practice’ (Beyleveld and Brownsword 2001 : 23). Another issue likely to engage this dignity-based conception of human rights is the question of whether research participants should be allowed to retain some control over samples stored in the biobank. The collection of human biological materials occurs mostly in an altruistic context, and the process of informed consent provides the vehicle through which the right to use donated materials is passed on to researchers. Consent norms allow donors and research participants to retain some control over the samples by giving them a right to withdraw their consent to participation at any time (Caulfield et al. 2007; Council of Europe 2005; Tri-Council 2005; UNESCO 2003; World Medical 455
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Association 2000). This highly regarded right can be invoked at any time and for any reason, subject to a situation where the sample is no longer identifiable or has been used in research (Caulfield et al. 2007; UNESCO 2003). As in the case of blanket vs specific consent, the fact that withdrawal of banked samples will likely frustrate research efforts is considered immaterial to the existence and exercise of this right. However, recent case law developments in the United States might have provided a loophole for circumventing the right to withdraw. In Washington University v. Catalona, a US court applied property law principles relating to inter vivos gifts in holding that biological samples donated in the medical research context (through the informed consent process) were irrevocable gifts and as such, research participants had no right to withdraw the gift or control how it is used in research (Catalona 2007). While the latter form of control is not a necessary or desirable part of the informed consent framework, resort to a property-based understanding of tissue donation will ultimately interfere with the exercise of the right to withdraw. With or without the appeal to dignity, the need to obtain and the right to withdraw consent to research is supported by a wealth of international policy instruments and judicial decisions and can only rarely be overridden (Caulfield et al. 2007). As such, it is not clear if appeals to dignity add anything to the solid construction of rights and autonomy upon which informed consent is based or notions of. As noted in Article 5 of the Helsinki Declaration: ‘In medical research on human subjects, considerations related to the well-being of the human subject should take precedence over the interests of science and society’ (World Medical Association 2000). In some jurisdictions, attempts to override the requirements for specific consent have been frustrated by the courts. For example, the Icelandic Supreme Court has held that the country’s genetic database legislation is unconstitutional (Gertz 2004). Other jurisdictions have enacted policies reaffirming the primary significance of obtaining consent for specific research projects. Human patents The human dignity arguments expressed in relation to the patenting of human tissues and genetic material stems from the concern that such patents would lead to the commercial exploitation and commodification of the human body (Canada House of Commons Standing Committee on Health 2001; Caulfield and Brownsword 2006; Dworkin 1997). This in turn would promote a lack of respect for human life and, with that, a devaluation of human dignity. This position suggests that it is somehow inappropriate, dignity-wise, to allow for direct financial gain from, or the operation of market forces on, human tissues and genetic material. Allowing this would ultimately reduce the human being to a mere commodity. A Kantian version of dignity resonates in this position – the belief that humans should not be instrumentalised. A striking element of this dignitarian objection to human patents is that it focuses heavily on speculative concerns about the possible impact of such patents on humans, in this case the creation of a social ethos that will encourage inappropriate commodification of humans. Therefore unlike most applications of dignity to biotechnology-related activities, this conception of dignity seeks to curtail only ‘possible threats to human dignity, not violations of human dignity’ (Resnik 2001: 160–61). Notwithstanding, this view of dignity has been expressed in policy discussions and international legislative instruments on the patentability of human genetic materials. For example, in 2001, Canada’s Parliamentary Standing Committee on Health recommended that patents on human 456
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materials should be denied, noting that patenting human genes is ‘repugnant’ and ‘entails their commodification’. Similarly, Article 4 of the UNESCO Universal Declaration on the Human Genome and Human Rights, a document expressly founded on human dignity, stipulates ‘the human genome in its natural state shall not give rise to financial gain’ (UNESCO 1997). The European Patent Convention also excludes patents where commercial exploitation is deemed contrary to public order or morality. No guidance is provided in the Convention on the meaning or interpretation of the public order or morality standard (European Patent Office 2006: Art. 53). This provides a possible loophole for admitting the dignity-based concerns highlighted above into the interpretation of the provision. Another basis of objection is that the patenting of human genetic material in and of itself compromises human dignity. Here, proponents of this view avoid the speculative concerns associated with commercialisation, arguing instead that to commercialise something representative of ‘man’s dignity as a species being’ amounts to the ‘impermissible reduction of something vested with its own sovereign integrity’ (Danish Council on Ethics 2004). This position is consistent with Article 1 of the UNESCO Declaration on the Human Genome and Human Rights, which states: ‘The human genome underlies the fundamental unity of all members of the human family, as well as the recognition of their inherent dignity and diversity. In a symbolic sense, it is the heritage of humanity’ (UNESCO 1997). Despite these dignity-based objections, international policies on human gene patents have been relatively permissive. The dignity-based recommendation by the Canadian Parliamentary Standing Committee was largely ignored. Also, European gene patent policy is relatively permissive despite concerns expressed about devaluation of human dignity. However, the dignity concerns have had some policy traction in relation to embryonic stem cell (eSC) patents and have, in at least one case, provided justification for a refusal to patent eSCs (Caulfield and Brownsword 2006).
4 Conclusion Our discussion reveals a variety of approaches in the application of human dignity to biotechnology-related activities. The main trends can be summarised as follows: (a) a view of dignity based on recognition of the moral status of entities implicated by biotechnology research, particularly the human embryo: this view has generated a lot of controversy and debate due to disagreements over whether certain entities, e.g. embryos, possess or should be afforded moral status; (b) the view that dignity is comprised of intrinsic, immutable and non-transferable human qualities based on the human capacity for moral thought and action: here, the central issue revolves around who possesses dignity, resulting in debates over the eligibility of species other than humans, or species with humanlike qualities for the award of dignity; this conception of dignity often assumes a deontological focus based on respect for other moral creatures; (c) dignity as a vehicle of individual empowerment which derives from the inherent worth of humans: dignity thus conceived is merely the foundation for human rights, and holds no more philosophical significance than the idea that individuals enjoy certain inalienable privileges as members of society; this view of human dignity thus allows for the withholding of privileges from non-individuals (e.g. embryos), a position which would clearly not resonate with the moral status dignitarians; and (d) dignity as a negation of the instrumentalisation of 457
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human beings (and of other utilitarian views of science), particularly in response to the influence of commercial considerations on scientific research. The ongoing disagreements and debates over the various conceptions of dignity is further confused by the dearth of reflection on the interpretative approach relied on in various biotechnology-related policies. As stated above, the term is often merely stated without further context or meaning. It is therefore surprising to find that it still plays a major role in the creation of biotechnology policy. Commentators have criticized such vague references to dignity in biotechnology policies, noting that they create vague duties for scientists that are often subject to broad interpretation and almost impossible to follow (Van Steendam et al. 2006). While it is important to ensure that biotechnology is subject to a regulatory scheme that protects public and individual interests implicated by the research, recourse to imprecise ideological concepts like human dignity merely end up serving as a barrier to the research without producing any workable policy framework. At best, such concepts tend to leave the door wide open for broad ideological interpretations of the policy scheme, and inconsistencies in the implementation of policy goals. Clearly, such highly polarised and adversarial environments constitute a major challenge not just to effective policymaking, but also to efforts to create a unified regulatory front for the ethical conduct of collaborative international research.
Acknowledgements This chapter draws from and continues the discourse in T. Caulfield and R. Brownsword (2006), ‘Human dignity: a guide to policymaking in the biotechnology era’, Nature Reviews Genetics, 7: 72–4. The authors are very grateful to Victor Alfonso for his excellent research assistance. The authors would also like to acknowledge our funding agencies, including the Alberta Heritage Foundation for Medical Research, Alberta Law Foundation, Canadian Stem Cell Network and Genome Alberta. Finally, a note of thanks to Tracey Bailey, Nina Hawkins, Robyn Hyde-Lay and our other colleagues at the Health Law Institute, Faculty of Law, University of Alberta.
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Section Seven New forms of knowledge production
32 Introduction Alberto Cambrosio
The topic of this section – new forms of knowledge production – can be construed in a number of ways. It can, for instance, refer to the changing configurations of the life sciences, shifting, for instance, from investigations within small laboratories to large-scale initiatives made possible by the establishment of extended collaborative networks. But it can also refer to the emergence of new forms of governance, involving the mobilisation of actors and institutions traditionally absent from the discussion of biomedical matters. Governance is here to be understood not merely as a form of regulation that intervenes after a given biomedical technology has been produced and adopted by practitioners but, rather, as a set of related although not necessarily consistent or coherent practices that affect not only the use but the content, production, circulation and translation of biomedical innovations. Yet another understanding of this section’s topic privileges the political economy of the life sciences by examining how biomedical activities have become progressively enmeshed in commercial relations and have correlatively acquired different cultural meanings. ‘Techno-science’, ‘bio-sociality’, ‘bio-capital’ are some of the terms that have been coined to label these processes (Latour 1987; Rabinow 1992; Sunder Rajan 2005). Beyond the incantations provided by reference to these fashionable labels, the authors in this section strive to provide overviews of the ‘state of the art’ of these different approaches. Far from being purely descriptive, these overviews adopt an explicit perspective, leaving the readers to decide whether they are mutually consistent or, to the contrary, represent a different ‘take’ on the shifting picture of contemporary life sciences. The present introduction does not go against this rule: far from summarising the content of each chapter, it provides a ‘frame with a view’ for the section’s topic. One of the most often-cited results of the field of Science and Technology Studies concerns the ‘situatedness’ of scientific practices. In contrast to widely shared assumptions about the intrinsic universality of ‘the scientific method’, the development of scientific facts has been shown to be closely tied to local circumstances, although, admittedly, the transition from ‘data’ to ‘facts’ corresponds to the severance of indexical links. For instance, in his pioneering work on the sociology of biomedical knowledge, Fleck (1979) argued that such a transition takes place in a literary space extending from specialised scientific journals to handbooks and popular science magazines, while Collins (1992), several decades later, linked it to the social distance that separates the ‘core set’ of 465
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scientific workers investigating a particular problem to the wider scientific or scholarly community, and the early Latour (Latour and Woolgar 1986, Latour 1987) tied it to a semiotic space in which the modalities qualifying initial scientific claims are sequentially dropped until a statement attains the unqualified status of a fact. Universality and generality are thus an achievement resulting from operations performed on statements, but also on the material components of scientific activities, as evidenced by the long chain of intermediaries that link each small step of an experimental sequence.1 The calibration of instruments, the availability of standard reagents and model research organisms, the production and constant updating of international nomenclatures are all examples of ‘investments in forms’ that account for the establishment of equivalences and data comparability between the instruments and research materials used in different settings.2 The experimental practices that define modern science have a distinctive technoscientific dimension, insofar as they would be impossible without instruments.3 But a unique piece of equipment does not produce meaningful results. Standardisation and regulation, broadly defined, thus play a key role in the modern life sciences. Once freed from the circumstances presiding over their development, scientific facts do not acquire any ethereal, context-free properties. To the contrary, their circulation is predicated upon the creation of techno-scientific networks that depend, once again, on the production of standardised interfaces. Moreover, in order to be mobilised, facts have to be reconfigured to adapt to or reformat local processes.4 In short, researchers examining knowledge production have come to the conclusion that the trajectories of scientific objects can be characterised by an essential tension between abstraction from and connection to specific arrangements. A call to investigate the ‘new forms’ of knowledge production exemplified by genetic and genomic research can therefore be understood as a call to examine the ‘new locations’ within which biomedical innovations emerge. The term ‘location’ is not to be taken in its narrow, geographical meaning: it can refer to all kinds of ‘spaces’ (institutional, discursive, etc.) (Livingstone 2003). Rheinberger (1997) has convincingly shown how the distinction between ‘epistemic things’ and ‘technology’ is generated within ‘experimental systems’ that provide, so to speak, the basic analytical unit of scientific activities. Within such systems, the production of ‘the same’ is subordinated to, but also acts as a platform for, the production of differences. Interestingly enough, this distinction can no longer be grounded in the dichotomy between the physical nature of instruments and the organic nature of the objects under investigation, since the tools of molecular biology – enzymes, antibodies, DNA probes – largely overlap with the entities they have been designed to investigate (Rheinberger 2000). In the age of genomics and the computer-assisted production of the virtual space of genomics, we would do well to recall with Deleuze (1994: 208) who, when distinguishing the possible, the virtual and the real, tells us that: ‘The virtual is real insofar as it is virtual’. Indeed, a reductive interpretation of Rheinberger’s description of experimental systems suggests that ‘epistemologically relevant’ activities take place at the lab bench, whereas the circulation of results outside the laboratory walls is, at best, of sociological import. Such a dichotomy between production and circulation is not only questionable in general terms, but seems to be particularly at odds with the new configuration of the life sciences exemplified by the ‘omics’ fields. Genomic and proteomic research is often ‘distributed’ and virtual, insofar as it is pursued in large part by networks and consortia that link dozens of institutions in several different countries in both real and virtual media. This, of course, does not imply that lab bench investigations are becoming 466
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increasingly irrelevant; rather, it points to a dual articulation of research activities whereby laboratory-produced data and data stored in databases have become mutually constitutive as part of the process of combining, comparing and transforming data from different teams. Indeed, the work carried out by collaborative research networks is made possible by the replacement of manual sequencing techniques with automated, computer-based instruments. Far from merely speeding up technical procedures, automated techniques produce different biomedical entities, one of whose central attributes is, precisely, their capacity to circulate, to become components of large databases, to be compared to other sequences, and thus to be endowed with novel meanings and become part of new practices. In turn, the unprecedented amounts of data produced by these research collaborations have made necessary the development of a new techno-scientific field, bioinformatics, that further displaces more traditional forms of knowledge production (Harvey and McMeekin 2002). Biomedicine, of course, is not restricted to research; rather, biomedical practices run the whole gamut of activities from research to clinical and therapeutic interventions. As part of the realignment of the relations between the normal and the pathological that characterise biomedicine (Keating and Cambrosio 2003), genomic technologies are increasingly finding their way into the clinic, raising new issues that involve problems of accountability vis-à-vis increasingly vocal patients. The situation is rendered more complex because of the shifting lines that separate – or, rather, no longer separate – the public from the commercial domain. The dissolution of time-honoured distinctions between different domains of reality, professional practice, economic arrangements and regulatory categories calls for new ways of approaching the contemporary life sciences and for new categories for thinking through these processes. Traditional disciplinary approaches that claim a unique take on reality via distinctive categories (‘culture’, ‘society’) will no longer do, even in revamped versions. It is to be hoped that the three chapters in this section will amply demonstrate this point, not so much because of what they have achieved, but, precisely, because of their obvious limits and shortcomings.
Notes 1 For a brilliant demonstration of this point, see Latour (1995) and also McNally and Lynch (2005) 2 O’Connell (1993), Rader (2004), Keating and Cambrosio (1998). On the notion of ‘investment in forms’, see Thévenot (1984) 3 For two different ways of exploring the techno-scientific components of contemporary science, see Latour (1987), Rheinberger (1997). On the role of scientific instruments, see Baird (2004). 4 The locus classicus for this kind of argument is Latour (1987). For a discussion of the role of regulation in contemporary societies, see Thévenot (1997).
References Baird, D. (2004) Thing Knowledge. A Philosophy of Scientific Instruments. Berkeley, CA: University of California Press. Collins, H.M. (1992 [1985]) Changing Order: Replication and Induction in Scientific Practice. Chicago, IL: University of Chicago Press. Deleuze, G. (1994) Difference and Repetition. New York: Columbia University Press. Fleck, L. (1979 [1935]) Genesis and Development of a Scientific Fact. Chicago, IL: University of Chicago Press.
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Harvey, M. and McMeekin, A. (2002) UK Bioinformatics: Current Landscapes and Future Horizons. Report for the UK Department of Trade and Industry, Biotechnology Directorate, Manchester: CRIC. Keating, P. and Cambrosio, A. (1998) ‘Interlaboratory life: regulating flow cytometry’, in J.P. Gaudillière and I. Löwy (eds) The Invisible Industrialist: Manufacturers and the Construction of Scientific Knowledge. London: Macmillan, pp. 250–95. —— (2003) Biomedical Platforms. Realigning the Normal and the Pathological in Late-twentieth-century Medicine. Cambridge, MA: MIT Press. Latour, B. (1987) Science in Action: How to Follow Scientists and Engineers through Society. Cambridge, MA: Harvard University Press. —— (1995) ‘The “pédofil” of Boa Vista: a photo-philosophical montage’, Common Knowledge, 4: 144–87. Latour, B. and Woolgar, S. (1986 [1979]) Laboratory Life: The Construction of Scientific Facts. Princeton, NJ: Princeton University Press. Livingstone, D.N. (2003) Putting Science in Its Place: Geographies of Scientific Knowledge. Chicago, IL: University of Chicago Press. McNally, R and Lynch, M. (2005) ‘Chains of custody: visualization, representation and accountability in the processing of forensic DNA evidence’, Communication and Cognition, 38: 297–318. O’Connell, J. (1993) ‘Metrology: the creation of universality by the circulation of particulars’, Social Studies of Science, 23: 129–73. Rabinow, P. (1992) ‘Artificiality and enlightenment: from sociobiology to biosociality’, in J. Crary and S. Kwinter (eds) Incorporations. New York: Zone Books, pp. 234–53. Rader, K. (2004) Making Mice: Standardizing Animals for American Biomedical Research, 1900–1955. Princeton, IL: Princeton University Press. Rheinberger, H.J. (1997) Toward a History of Epistemic Things. Synthesizing Proteins in the Test Tube. Stanford: Stanford University Press. —— (2000) ‘Beyond nature and culture: modes of reasoning in the age of molecular biology and medicine’, in M. Lock, A. Young and A. Cambrosio (eds) Living and Working with the New Medical Technologies. Intersections of Inquiry. Cambridge: Cambridge University Press, pp. 19–30. Sunder Rajan, K. (2005) Biocapital: The Constitution of Postgenomic Life. Durham: Duke University Press. Thévenot, L. (1984) ‘Rules and implements: investments in forms’, Social Science Information, 23: 1–45. —— (1997) ‘Un gouvernement par les normes; pratiques et politiques des formats d’information’, in B. Conein and L. Thévenot (eds) Cognition et information en société. Paris: Éditions de l’EHESS (Raisons Pratiques 8), pp. 205–41.
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33 Centralising labels to distribute data The regulatory role of genomic consortia Sabina Leonelli
Introduction Given the new opportunities for data-driven research afforded by genomics in conjunction with bioinformatics, biologists and their sponsors have been struggling for agreement on data dissemination strategies. The factors involved in regulating the disclosure and circulation of genomic data range from the conflicting interests and ethos of the researchers involved to the clash in goals and procedures characterising biotechnology and pharmaceutical industries, national governments and international agencies. This situation gives rise to new types of organisations functioning as platforms for networking, debate and joint action among relevant actors. Examining the circumstances in which these organisations emerge, as well as their effects on research practices and regulatory structures, illuminates important aspects of governance in contemporary biomedical research and its effects on knowledge production. This is a case where, in the words of Andrew Barry (2001), the space of governance is being reconfigured, largely as a consequence of adopting new technologies for the production and exchange of data. In this chapter, I focus on the case of genomic consortia. These are self-organised committees gathering specialists from various scientific fields to negotiate common standards for data dissemination, often with substantial consequences for the regulation of data sharing on a global scale. In particular, I discuss the case of bio-ontology consortia, organisations created to develop and maintain a labelling system for the distribution of data across research contexts. Bio-ontology consortia function as a muchneeded interface between bottom-up regulations arising from scientific practice, and top-down regulations produced by governmental and international agencies. They achieve this by focusing on practical problems encountered by researchers who use bioinformatic tools such as databases. A good example is the problem of data classification: that is, the tension that is bound to exist between the stability imposed by classificatory categories used in databases and the dynamism and diversity characterising the scientific practices through which data are produced. Bio-ontology consortia provide an institutional solution to the problem, by setting up mechanisms to select and update the labels given to data so as to mirror the expectations and needs of data users. 469
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As I intend to show, the study of consortia is crucial to the regulatory impact of data sharing practices on biomedical science. This is because they have become key institutional loci for the actual governance of data sharing: consortia are deliberately created by scientists to develop relevant bioinformatic tools, supervise the implementation of those tools within existing scientific practices, and encourage feedback on those procedures from other researchers as well as top-down regulators. Looking at the issues confronted by consortia, like the problem of data classification, helps to understand what governance in genomic research actually consists of, and how it can be successfully managed.
1 Data-centric biology One of the most important characteristics of contemporary research in the life sciences, and particularly genomics, concerns the status accorded to data as a source of biological knowledge. Thanks to high-throughput technologies such as shotgun sequencing and microarray experiments, data production has become increasingly automated and technology-driven. As a consequence, since the 1990s the activity of data gathering has acquired relative independence from other scientific activities such as hypothesis-testing and explanation. Genome sequencing projects have given new legitimacy to the idea of data as prime motors of research, which are gathered in and by themselves rather than in order to corroborate existing hypotheses. The underlying belief is that it is now possible to obtain scientific knowledge from the (statistical) analysis of data, rather than from the testing of hypotheses: research can be data-driven as well as hypothesis-driven. In the words of a scientific commentator, ‘if it becomes cheaper to just collect all data required than to run after a hundred consecutive, plausible, but wrong hypotheses, starting with a hypothesis becomes an economic futility’ (van Ommen 2008: 1). Most biologists would disagree with the idea that data can fully replace hypotheses: both elements are recognised as playing an indispensable role in research (e.g. Kell and Oliver 2003). Still, many researchers are discussing the possible rebirth of the inductive method in biology.1 Not only are biologists flooded with more data than ever before, as high-throughput technologies can produce several billions of data per day: they are also prepared to use those data as reliable evidence, at least as long as no data of better quality are available and standards are developed to enable the comparison of data obtained in diverse experimental circumstances.2 The accumulation of masses of data on biological entities and processes is widely seen as necessary to improving current understandings of those entities and processes. This renewed trust in inductive inferences constitutes a powerful intellectual movement, which might be dubbed data-centric biology. Underlying the decision to invest on high-throughput technologies in the first place, for instance, is a fascination with the power of evidence as a potentially ‘objective’ ground for decision-making. The idea of relying on hard data to verify or refute scientific hypothesis is very much alive within scientific and policy circles, where Popper continues to be hailed as the philosopher of science who most closely captured the features of scientific research (see again the discussion surrounding Holliday 1999). In this context, high-throughput data constitute another opportunity to provide firm footing for the life sciences, notoriously seen as ‘softer’ than the physical sciences and fraught with uncertainty. The use of data-centrism as guarantor of a more ‘objective’ science is also evident in medicine, where evidencebased methods promise to substitute the tacit, potentially untrustworthy expertise of 470
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doctors with ‘hard facts’ obtained through randomised clinical trials (Lambert 2006). The prioritisation of evidence derived from clinical trials as the most credible (objective) source for medical knowledge bears obvious similarities with the prioritisation of genomic data obtained through high-throughput technologies as the most credible (objective) source for biological knowledge. Data-centrism is driven by a multiplicity of factors, ranging from the changing structure and resources available to the biomedical sciences (Keating and Cambrosio 2003), to the availability of new technologies (Gaudillière and Rheinberger 2004), the commodification of academia (Leonelli forthcoming) and fundamental advances in the scientific understanding of mechanisms of heredity. Further, data-centric biology has proved its scientific worth in several ways. One of its most significant applications consists in the development of so-called ‘model organism biology’. Organisms have always been crucial to experimental research in biology, and typically various branches of the life sciences used different organisms depending on the issues that they investigate and the facilities at hand (developmental biology, for instance, has long focused on chicks because of the ease of keeping eggs in a laboratory and the large size of the embryos, which make them easy to study). More recently, however, the notion of model organism has changed connotations. Popular organisms such as fruit-flies (Drosophila melanogaster), thale cress (Arabidopsis thaliana), yeast (Saccharomyces cerevisiae) and mice (Mus musculus) are now seen as boundary objects through which various biological disciplines can meet and cooperate; and cooperation comes first and foremost through the accumulation of data on various aspects of their biology, starting with their DNA sequence (Ankeny 2007; Leonelli 2007). Focusing on the study of one species, rather than of several species at once, enables large groups of researchers to channel their efforts into gathering data on virtually every aspect of the same organism. It is expected that these data can then be used as evidential platforms to understand the biology of the organism as a complex whole, as well as drawing accurate comparison across species representing different families. As put by the director of the Arabidopsis Information Resource, a database serving a user community of over 16,000 biologists: my long-term goal is to discover the rules and mechanisms underlying the workings of Arabidopsis thaliana by building an infrastructure to bring all the available data together, developing computer programs that infer knowledge based on the available data, and engaging the research community to test the inferences.3 In what follows, I reflect on what it means to build infrastructures ‘to bring all available data together’, and on the effect that the development of these infrastructures is having on the regulation of biomedical research. In other words, I wish to focus on the institutional impact of data-centric biology, by examining the collaborative work needed to develop and implement tools for data sharing.
2 Data sharing through bioinformatics In the words of Paul Wouters and Colin Reddy, ‘the increasing role of huge data sets in scientific research has important implications for the way the research is conducted, for the way it should be organised and funded, and for the training of new researchers’ (Wouters and Reddy 2003: 13). Several international organisations, most prominently 471
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the Organisation for Economic Cooperation and Development, have argued that advances in biomedical research depend on scientists’ ability to consult and use all available data, independently from where they were originally produced: data sharing on a global scale is the best way to ‘advance science for the public good’ (Azberger et al. 2004: 1777).4 This view has been adopted by all the main funding bodies for scientific research, including the National Science Foundation and the National Institutes of Health in the United States, the European Union and research councils in the UK, Germany, France and Japan. The assumption underlying this policy is that the more scientists are allowed to access the same sets of data, the more those data will be used to produce new knowledge about biological phenomena (Leonelli 2008). The special status accorded to data as sources of knowledge has become a strong argument for making them available to any interested researcher without restrictions. Indeed, governmental bodies, scientists and, increasingly, industry agree that the efficient reuse of data presupposes data sharing on a global scale (thus settling on a ‘politics of coordination’ of the type outlined by Stemerding and Hilgartner 1998: 60). What remains contentious is the goal itself: whether all data should be made available for reuse in new research contexts. The main argument underlying the public disclosure of results from the Human Genome Project was that data produced through governmental funding are a public good, helping scientists to produce innovations for the benefit of all, and that therefore no restriction should be placed on accessing them (Sulston and Ferry 2002). This view is still controversial among scientists, policy-makers and both private and public research sponsors. Even aside from issues of privacy arising from the dissemination of data obtained from human subjects (e.g. Martin 2001; Gibbons 2008), there are concerns about intellectual property. Data are hard-won resources obtained through substantial investment. To data producers, giving data away means losing competitive advantage over research groups working on similar topics. Data sharing practices thus challenge the competitive nature of research in both academia (with its ‘publish or perish’ policies of grant allocation) and industry (where the goal is to be the first to license a marketable product). The development of tools facilitating data sharing is a great challenge in itself. Given their prominence as criteria to measure the quality of scientific research and allocate funding, publications in journals remain the preferred way to disclose results. However, this system is not ideal as a platform for data sharing. It requires scientists to select the data that best fit the claims published in each paper. This means that the majority of the data produced in each experiment is either kept within the walls of one laboratory or discarded outright. The problem is exasperated by the growing size of biomedical research and related publications, currently split in countless subfields ranging from cellto-cell transmission to theoretical ecology. Given the vast amounts of journals supporting each of these subfields, the chance of published data being noticed and used across different research contexts is extremely small, as researchers are barely able to keep up to date with publications within their own area. A recent solution to these issues has been to introduce online databases as tools to search, retrieve and analyse datasets. The field of bioinformatics has become the main provider of digital tools to store and distribute data online. The resulting ensemble of databases, software and web services used for data sharing, often referred to as cyberinfrastructure,5 is generously supported by governmental bodies throughout the developed world, including the National Science Foundation and the European Union.6 There are different types of databases in use, ranging from data repositories, holding vast amounts of 472
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data of the same type (e.g. GenBank, holding sequencing data from over 260,000 organisms) to community databases, storing data of various different types gathered on the same organism or process (like the above-mentioned Arabidopsis Information Resource, which provides access to ‘the complete genome sequence along with gene structure, gene product information, metabolism, gene expression, DNA and seed stocks, genome maps, genetic and physical markers, publications, and information about the Arabidopsis research community’).7 Thanks to their capability to store huge amounts of information, their ease of consultation over the internet and their flexibility in letting users choose among search parameters, databases constitute ideal means to communicate data to a wide audience. Stephen Hilgartner has highlighted the function of these tools as a ‘new communication regime’, which complements traditional ways of communicating results by focusing specifically on the dissemination of data (Hilgartner 1995). Community databases are especially interesting, as many of them enable not only the retrieval, but also the analysis of data through apposite models and the perusal of information concerning the original sources of data.8 Further, databases can be easily linked with one another, enabling cross-searches across a widening network of datasets.
3 Confronting the problem of classification: bio-ontologies The increasing use of bioinformatic tools for data sharing has had large effects on the governance of science, many of which I cannot discuss here. I wish to focus on one area whose regulation is of primary interest to scientists, while at the same time requiring the attention – and, arguably, the intervention – of other relevant stakeholders such as funding bodies, governmental organisations and industry. This is the process underlying the choice of categories for data classification to be implemented across databases. The fast development of cyberinfrastructure has brought a new urgency to the need for common criteria under which data gathered across a variety of contexts can be classified and retrieved. Categories appropriate for this task need to be intelligible and useable by any researcher interested in reusing genomic data stored in databases. This is an extremely challenging requirement, however, given that biology is a highly fragmented field, encompassing numerous epistemic cultures with diverse commitments, interests, research methods and tacit knowledge (Knorr Cetina 1999). Differences among epistemic cultures may depend on the disciplinary or geographical location of the researchers involved, on whether or not they use specific technologies or model organisms (and which ones) or on the context in which they work. These differences may shift very rapidly depending on the alliances developed to study a specific topic: epistemic cultures can form or dissolve on the basis of which projects are funded and which collaborations prove useful in the long term. Despite their fragility, substantial differences among epistemic cultures often manifest themselves through the elaboration and use of local terminologies, shaped by shared tacit knowledge and interests, to refer to biological objects and practices. For instance, what ecologists see as a symbiont might be classified as a parasite by immunologists; and molecular and evolutionary biologists often attribute different meanings to the term ‘gene’ (Stotz et al. 2004). Making information travel across communities using very different languages is no small feat. The use of language is unavoidable when trying to classify enormous masses of data for dissemination – and here we find ourselves on familiar territory to historians and social scientists: that is, the issue of classification and its use in standardisation practices. 473
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Classifying data for dissemination means finding categories that can accommodate the diversity characterising users’ research practices. At the same time, a classification system needs to retain some internal consistency in order to provide access to all available data at once. This is true also in the case of multiple classification systems giving access to data obtained in different areas: these systems need to be linked with each other, so as to enable comparative and cross-field searches, which again requires some level of unification among the categories and standards used to classify data. Further, as highlighted by several STS scholars,9 any classification system has a stabilising force. Stable categories are needed to search and retrieve data from databases. Yet this requirement also clashes with the practices of the user community: research at the bench is typically quick to produce new results, some of which help to overturn previously held knowledge. As observed in a recent review on standards in bioinformatics, ‘this is one of the most important general problems in building standards for biology – our understanding of living systems is constantly developing’ (Brazma et al. 2006: 595). An appropriate classification for data sharing needs to be dynamic enough to support the ever-changing understanding of nature acquired by the biologists who use it; at the same time, it needs to retain enough stability to enable data of various sorts and significance to be quickly surveyed and retrieved. Can data classification through standard categories enable collaborative research without at the same time stifling its development and pluralism? In the late 1990s, biologist Michael Ashburner proposed an answer to this question in the form of a functional approach to data classification. As I will argue, the success of this approach is due as much to its technical characteristics as to its institutional implementation; indeed, the development of this system required the creation of a new set of organisations bringing together researchers from different communities and serving as an interface between bioinformaticians, researchers using data and regulatory bodies such as funding agencies and international organisations. Ashburner’s idea, first presented at the Montreal International Conference on Intelligent Systems for Molecular Biology in July 1998, was to classify data on the basis of the biological entities and processes that genomic data were used to research. This view was born out of Ashburner’s experience in developing one of the first community databases (FlyBase, for the fruit-fly Drosophila melanogaster) and was shared with many other database developers interested in serving ‘not just organism-specific communities, but also pharmaceutical industries, human geneticists, and biologists interested in many organisms, not just one’ (Lewis 2004: 103.2). In practice, it involved classifying data gathered on each gene according to the known molecular function and biological role of that gene. The implication was that the terms used for data classification should be the ones used by biologists to describe their research interests, i.e. terms referring to biological phenomena. Thus, for instance, a database user wishing to investigate cell metabolism should be able to type ‘cell metabolism’ into a search engine and retrieve all available genomic data of relevance to her research. This approach was implemented as a ‘ontology’: a strategy for ordering and storing information already popular in computer science and information technology, which enables programmers to produce a formal representation of a set of concepts and of the relationships among those concepts within a given domain. The choice to use the word ‘ontology’ has little to do with the long tradition in the philosophical study of being. Rather, it has to do with signalling to other scientists and to the world that what is at stake in the development of labels is the very core of scientific and technological innovation: that is, the map of reality used by scientists to coordinate efforts and share 474
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resources. This map clearly needs to be drawn on the basis of pragmatic considerations, rather than theory or ideology.10 When applied in the biological domain, each concept is used to refer to an actual biological entity and, at the same time, to classify available data. Thus were born the so-called ‘bio-ontologies’, defined as ‘formal representations of areas of knowledge … that can be linked to molecular databases’ (Bard and Rhee 2004: 213) and thus can be used as classification systems for data sharing and retrieval. The first bio-ontology to achieve prominence among databases was the Gene Ontology, or GO. The GO was developed as a standard for the classification of gene products. It encompasses three different ontologies, each mapping a different set of phenomena: a process ontology describing ‘biological objectives to which the gene or gene product contributes’ (Ashburner et al. 2000: 27), such as metabolism or signal transduction; a molecular function ontology representing the biochemical activities of gene products, such as the biological functions of specific proteins; and a cellular component ontology, referring to the places in the cell where a gene product is active (nuclear membrane or ribosome).11 The GO is now incorporated into most community databases for model organisms, including WormBase, the Zebrafish Information Network, DictiBase, the Rat Genome Database, FlyBase, the Arabidopsis Information Resource, Gramene and the Mouse Genome Database. Many other ontologies have appeared since its creation. Some are devoted to classifying data gathered on a given type of object, such as the Cell Ontology or the Plant Ontology; other ontologies focus on data gathered through specific practices, such as the Ontology for Clinical Investigation and the Ontology for Biomedical Investigation (Smith et al. 2007). To understand the success of bio-ontologies, it is important to keep in mind that they were explicitly created to confront the challenge of classification: that it, to serve the diverse and shifting interests of database users, while at the same time efficiently enabling data retrieval. This is evident when considering some of the processes through which bio-ontologies are created: the process of selection of terms to be used as keywords for data searches. Terms are chosen for their popularity within current scientific literature and thus their intelligibility to potential users of databases. As emphasised by the founders of the Gene Ontology, ‘One of the factors that account for GO’s success is that it originated from within the biological community rather than being created and subsequently imposed by external knowledge engineers’ (Bada et al. 2004). The developers of bio-ontologies, appropriately called ‘curators’, are encouraged to pick terms in use within current scientific literature, so as to make sure that they do not insert their own pet terms in the classification system. Further, they are responsible for compiling lists of synonyms for each term, so that research communities using different terms for the same entity would still be able to access the wished-for data. the process of definition, that is the specification of what the terms actually mean. Bio-ontologies are not simply lists of keywords. Rather, they are ‘controlled vocabularies’: collections of terms whose definitions and relations to each other are clearly outlined according to specific rules. The meaning of each term is unambiguously fixed via a definition in which curators specify the characteristics of the phenomenon which the term is intended to designate (Baclawski and Niu 2006: 35). For instance, the GO defines the term ‘ADP metabolism’ as ‘the chemical reactions and pathways involving ADP, adenosine 5’-diphosphate’.12 The definition of terms matters greatly to the success of bio-ontologies as classification 475
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systems: researchers can only make sense of data retrieved through a bio-ontology term if they know precisely which entity that term refers to. the process of mapping terms to specific datasets. This is not an automatic process, as datasets do not come with a ready-made tag indicating the research areas in which they might prove relevant – and thus the bio-ontology terms that will be used for their classification. The mapping of data to bio-ontology terms needs to be done manually, through a process called ‘annotation’, either by curators or by data producers themselves. Again, how curators or experimenters decide to label data has a strong impact to the functioning of bio-ontologies for data retrieval: database users need to trust that the data classified under a specific term are actually relevant as evidence for the investigation of the related phenomenon. The ways in which the processes of selection, definition and annotation of terms are carried out are crucial to the success of bio-ontologies as tools for data sharing. This is also because all three processes are subject to constant revision. Curators are well aware that the knowledge captured by bio-ontologies is bound to change with time and further research, as well as manifesting itself differently in each research contexts. The advantage of bio-ontologies as digital tools is that they can be updated to reflect developments in the relevant scientific fields. They are built to be a dynamic rather than a static classification system: ‘By coordinating the development of the ontology with the creation of annotations rooted in the experimental literature, the validity of the types and relationships in the ontology is continually checked against the real-world instances observed in experiments’ (Bada et al. 2004: 237). By stressing flexibility to users with diverse epistemic cultures as well as to shifts in scientific knowledge, it may seem that bio-ontologies succeed in solving the problem of classification presented above. As I emphasised, however, whether bio-ontologies can actually match the challenge depends on the way in which they are developed and maintained – that is, on how curators select and update the labels used in bio-ontologies to mirror the expectations of their users.
4 Bio-ontology consortia: institutionalising collaboration Curators carry out their work through a combination of skills. They need to have a good understanding of cutting-edge information technology, which enables them to collaborate with programmers and computer engineers in developing appropriate software.13 They also need a basic training in various biological disciplines: without a generalist understanding of at least two or three different disciplines (for instance, developmental and molecular biology), curators would not be aware of the differences among the epistemic cultures characterising different fields and would not be able to build bridges between them. At the same time a curator’s expertise needs to include some familiarity with experimentation ‘at the bench’. This provides curators with an awareness of what users need, expect and look for in a database; it also enables them to understand the experimental settings in which the data have been obtained, which helps the process of annotation.14 Finally, curators need to endorse a ‘service’ ethos: they must embrace the idea that their work is meant to facilitate experimental research, which often implies that their contribution is perceived as ‘second-class’, rather than as complementary to it. In the current scientific retribution system, services such as bioinformatics and database 476
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building are not yet fully recognised as forms of research in their own right (Howe, Rhee et al. 2008). As many other innovations, bio-ontologies were started through the efforts of personalities already predisposed to collaborative work and willing to put their own career at risk to develop new modes of research. Of course, key motivations for entering this profession include self-interest and the desire to expand one’s career and impact. Still, it is important to note that the ‘service ethos’ is frequently emphasised within curator circles, with normative effects on what counts as good behaviour in those communities.15 Paradoxically, the very expertise that enables curators to develop and maintain a database constitutes an obstacle to the communication between curators and database users. Many researchers do not have the skills to provide feedback to curators on how well their systems serve their research. Providing feedback unavoidably means engaging with the practices through which bio-ontologies are developed, and thus acquiring some of the skills involved in curation. Understandably, given the time, interest and effort involved, this is something that database users are often reluctant to do. A molecular biologist I interviewed in March 2007 summarised the problem as follows: ‘biologists want to get information and then go back to their question’. To researchers subscribing to this view, the elaboration of bio-ontologies is not a matter of democratic ‘voting’ on which terms and definitions to adopt, but a matter of division of labour between people busy with experiments and people busy with developing databases storing the results of experiments. In their eyes, the production of a reliable bio-ontology is the job of curators; all they need to do is trust the curators’ judgement. The difficulties in obtaining feedback from users constitute a serious problem. Left to their own devices, curators carry out the processes of selection, definition and annotation on the basis of their own perception of what is happening in experimental research. Despite their skills, their judgement is unavoidably one-sided and risks representing research in ways that do not match actual practice – thus betraying the trust of database users. This is especially true when it comes to updating existing bio-ontologies, an activity that benefits tremendously from direct consultation with users. A solution to these issues comes in the form of the institutional set-up in which bio-ontologies are developed and maintained. In order to develop labels that would effectively serve the diverse needs of data users, scientists from various disciplines have joined forced with bioinformaticians and research sponsors to create genomic consortia. Consortia are typically born out of the initiative of database developers, who are well aware of the issues surrounding data classification and who decide to join forces in order to bring visibility to those issues within the wider scientific community. Over and above more traditional scientific institutions and funding bodies, it is these organisations that have taken responsibility for enforcing collaboration and dialogue among curators as well as between curators and users – and that therefore play a crucial role in the regulation of data sharing. An exemplary case is the Gene Ontology Consortium, which was instrumental to the development and current success of the GO as a classification tool. The GO was not started through appositely allocated funds, but rather through an informal network of collaboration among the curators of prominent community databases such as FlyBase, Mouse Genome Informatics and Saccharomyces Genome database (Lewis 2004). These researchers were aware that the problems emerging in relation to data classification could not be solved by single-handed initiatives. They therefore decided to use some of the funding allocated to each of their databases to support an international collaboration among database developers, which they named the GO Consortium. Institutionalising 477
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their informal network into an independent organisation served several purposes: it allowed them to attract funding specifically supporting this initiative; it gave visibility to their efforts; and gave other curators the opportunity to join in. Within little less than a decade, the GO Consortium was able to attract funding from both private and public agencies (e.g. a pump-priming grant by AstraZeneca, a major pharmaceutical company, in 1999 and a grant by the National Institute of Health in 2000, which has been hitherto renewed), enabling to fund four full-time curators to work in the Consortium’s main office in Cambridge. At the same time, the Consortium expanded to incorporate several new databases as members (Bada et al. 2004). Today, the Consortium includes over 15 members, each of which is required to ‘show a significant and ongoing commitment to the utilization and further development of the Gene Ontology’ (GO website, accessed 25 November 2008). This implies funding some of their staff to work on GO and contribute to its content, sending at least one representative to GO Consortium meetings (held on average twice a year), and being prepared to host those meetings at their own institutions. A different example is provided by the Open Biomedical Ontology Consortium, an umbrella body for curators involved in the development of bio-ontologies that was started by Ashburner, Lewis and Barry Smith in 2001. The initial motivation was to develop criteria through which the quality and efficiency of bio-ontologies as classificatory tools could be assessed and improved. These include open access to data (with exceptions in the case of sensitive data such as derived from clinical trials); active management, meaning that curators would be constantly engaged in improving and updating their resource; a well-defined focus, which would prevent redundancies between ontologies; and maximal exposure to critiques, for instance through frequent publication in major biology journals (thus advertising the ontology and attracting feedback from potential users) and the establishment of mechanisms to elicit comments from users. Not incidentally, these are also ‘the key principles underlying the success of the GO’ (Smith et al. 2007: 1252). In other words, the OBO Consortium set out to make the GO into an exemplar in the Kuhnian sense: a textbook example of what a bio-ontology should be and how it should function, a ‘model of good practice’ (Smith et al. 2007: 1253). At the same time, the OBO Consortium used the feedback gathered through interaction among curators to develop rules and principles that could be effectively applied to ontologies aimed at different types of datasets.16 The GO itself ended up being substantially reformed as a result of this process. Within six years, over 60 ontologies became associated with the OBO Consortium (where association involves similar requirements for collaboration as membership in the GO Consortium), with many more curators learning from the experiences gained through these cooperations. The participating ontologies range from the Foundational Model of Anatomy to the Cell Ontology, the Plant Ontology and the Ontology for Clinical Investigations. In several cases, each of the participating ontologies also maintains its own consortium (for instance, in the case of the Plant Ontology Consortium), which again helps curators to interact with experts in the specific fields addressed by the bioontology. Governmental agencies have started to pay close attention to the efficiency with which consortia operate, and to reward it by allocating apposite funding. The main function of bio-ontology consortia such as the OBO and the GO is to effectively enforce collaboration across three main groups involved in the regulation of data sharing.17 The first group comprises database curators. Consortia provide an institutional incentive for the exchange of ideas, experiences and feedback among curators busy with 478
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different projects, thus speeding up developments in bio-ontology curation, enhancing curators’ accountability to their peers, increasing effective division of labour among curators and at the same time helping to maintain and legitimise a collaborative ethos. Exchanges are achieved through regular face-to-face meetings and weekly communications through various channels, ranging from old-fashioned emails to wikis, blogs and apposite websites (such as the BioCurator Forum). Indeed, consortia play a key role in training curators: it is through consortia that curators discuss what counts as expertise in bioinformatics, and many consortia organise training workshops for aspiring curators. Last but not least, consortia promote the interests of curators and their rights as researchers, much as a workers’ union would do. The status of bioinformatics within biology is on the rise (Howe, Rhee et al. 2008), a fact that, among many other factors, has at least something to do with the visibility obtained by curators through savvy steering of consortia. The second group consists of the many stakeholders with an interest in data sharing practices and their regulation, encompassing for instance research sponsors, publishers and journal editors. Consortia function as a platform for communication between curators and the outer world. For instance, several consortia are engaged in dialogue with industry, in an attempt to align data classification practices in that context with the practices characterising research that is publicly sponsored. Also, the GO Consortium – and particularly curators from the Arabidopsis Information Resource – has started to collaborate with the editors of Plant Physiology, the foremost journal in plant science (Ort and Grennan 2008). This involves asking researchers who submit a paper to the journal to disclose related data through the Arabidopsis Information Resource, which in turn involves making use of GO labels to classify the data. Both curators and editors hope that this mechanism will force experimenters (who certainly need to publish) to learn more about how bio-ontologies work, thus enhancing their ability to provide feedback to database curators, as well as their interest in doing this. The third group whose ability to intervene on data sharing regulation is massively increased by consortia is, of course, the vast and diverse community of database users. Notably, communication through consortia transcends local commitments such as national culture, geographic position or disciplinary training. Consortia such as the OBO are intended to provide a space for confrontation among all users of bio-ontologies, regardless of their affiliation or location. Consortia attempt to increase feedback through apposite mechanisms for communication between curators and users. An effective mechanism is the so-called ‘content meeting’, a workshop set up by curators to discuss specific bio-ontology terms in the presence of experts from several related fields. For instance, the GO Consortium organised a GO Content Meeting at the Carnegie Institute for Plant Biology in 2004, in which the GO terms ‘metabolism’ and ‘pathogeny’ were critically discussed and redefined with the help of experts in immunology, molecular biology, cell biology and ecology. Similar to this are so-called ‘curator interest groups’, in which users are invited to provide feedback on specific ontology contents; and online discussion groups coordinated through wikis or blogs. Some consortia have also discussed implementing peer review procedures on each annotation process, thus asking two referees from the bench to assess the validity and usefulness of specific bits of curators’ work. This procedure, though time-consuming, might become popular especially for complex annotations relating to pathways or metabolic processes. Last but not least, consortia forcefully promote user training, both via workshops at conferences and in home institutions and by pushing the insertion of bioinformatic courses within biology degrees, often already at the undergraduate level. More than any other factors, this 479
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influence on science education is likely to reduce the gap in skills and interests currently separating curators from users. The more success bio-ontologies enjoy as efficient tools for data sharing, the more power consortia acquire to enforce collaboration among all stakeholders in data sharing and to influence top-down regulations from governmental and international agencies to fit their agenda. The timing of these organisations is remarkable, as their activities fit squarely into the broader shift in science policy towards the use of cyberinfrastructures as main tools for collaborative and interdisciplinary work (Lee et al. 2006; Stein 2008).18
5 Conclusion: centralising regulation to distribute data By focusing on the bottom-up institutionalisation of bio-ontologies, I have shown that the process of labelling data for dissemination is both an outcome of and a platform for the regulation of data sharing practices. The use of bio-ontologies and databases is meant to increase the fluidity of communication and the ease in exchanging resources among scientists. In practice, this can only happen within the right institutional setting. A key concern in governing data sharing is to enforce effective dialogue among the developers and the users of bio-ontologies, so as to secure the trustworthiness and usability of these classificatory systems. In particular, the developers of cyberinfrastructure have made themselves accountable for developing systems to elicit users’ feedback and act upon it. Bio-ontology consortia have emerged from the deliberate, reflexive efforts by curators to collaborate towards the improvement of data classification processes. I have argued that bio-ontology consortia play an important role in developing, maintaining and legitimising practices of data sharing. Consortia operate as collectives gathering relevant stakeholders and forcing them to interact with each other. Regulatory measures emerge from consensus achieved through frequent confrontation among different parties. As pointed out by Cambrosio et al. (2006: 193), this kind of consensus does not have to concern all aspects of scientific work, but rather the modalities of use of technologies that need to be shared across large and diverse communities. Further, consensus is conceived pragmatically as a temporary achievement, which needs to be frequently challenged and revised through the expression of diverse viewpoints. Explicitly formulated dissent among different epistemic cultures is necessary to maintaining such a dynamic set of conventions. Like many other organisations devoted to the regulation of cyberinfrastructure, bio-ontology consortia construe themselves as platforms to voice the epistemic diversity characterising local research cultures. In their attempts to classify data for dissemination, consortia exemplify the need for forms of scientific governance where, as in other realms of social life, centralisation processes at once emerge from and fuel diversity. By fostering consensus through the acknowledgment of epistemic pluralism, consortia are making a political move: they are proposing themselves as regulatory centres for data sharing processes. As I have shown, they indeed play a central role in shaping the expertise required to build and maintain tools for data sharing. They are also centralising procedures, as demonstrated by their attempts to establish common rules for bio-ontology development. And they promote common objectives for the whole scientific community, such as the willingness to integrate the tools used to share materials and resources from which knowledge can be extracted (resources such as data, but also tissue samples, in the case of bio-banks, or specimens, in the case of natural history collections or stock centres for model organism research). In her reflections on pre-GO attempts to integrate 480
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community databases, Lewis notes how collaborations set up in the absence of a common focus ended up in failure (Lewis 2004: 103.2). Further, the unity of purpose characterising consortia involves a self-appointed sense of responsibility for the regulation of data sharing practices, which remains largely uncontested by users and enables consortia to attract funding and support. This type of centralisation has several epistemic and institutional advantages. It enhances the power of labels and standards to cross epistemic contexts; it enables constructive dialogue between curators and users of bioinformatic tools; and it favours the cooperation between academia, governmental agencies and industry towards disclosing and disseminating data. The coordinators of the OBO Consortium acknowledge the diversity of expertises and stakes in genomic research, as well as the need for data users to work within their own network and their local epistemic culture: Our long-term goal is that the data generated through biomedical research should form a single, consistent, cumulatively expanding and algorithmically tractable whole. Our efforts to realize this goal, which are still very much in the proving stage, reflect an attempt to walk the line between the flexibility that is indispensable to scientific advance and the institution of principles that is indispensable to successful coordination. (Smith et al. 2007: 1254) At least in principle, the centralisation of regulatory power in the hands of consortia fosters the distributed and plural nature of biological research. Walking the line between flexibility and stability in regulating data sharing might prove a viable way to confront and finally solve the classification problem. As long as consortia keep up their efforts to walk that line, bio-ontologies have a chance to develop as a dynamic classification system. The solution to the classification problem is therefore institutional as much as it is technological: bio-ontologies provide both the means and the platform to constantly update classificatory categories, while at the same time cultivating epistemic diversity through recourse to the ‘right’ expertises and institutional settings. It might be objected that the total decentralisation achieved through the ‘wikification’ – also referred to as ‘crowdsourcing’ and ‘community annotation’ (Ledford 2008) – of data sharing constitutes an increasingly popular and effective alternative to the centralisation exemplified by consortia. Within that model, users are free to add their own annotations and corrections to a given gene or pathway through tools such as the Gene Wiki. This is certainly a promising avenue for the involvement of users in the development of databases, and one that consortia are seeking to exploit. Indeed, wikis should be considered as complementing, rather than substituting, the work of organisations such as consortia. This is because the existence of common terminological standards is a necessary requirement for the very functioning of wikis, as widely acknowledged by defenders of the role of local agency in designing tools for data sharing. Consider, for instance the following statement, which concludes a recent survey of the usefulness of distributed agency in the development of ontologies: Local agency, when incorporated into the wider design concept, is increasingly seen as a resource for maintaining the quality, currency and usability of locally generated data, and as a source of creative innovation in distributed networks. (Ure et al. 2008: 9; my emphasis) 481
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Interventions by database users are essential to maintaining the efficiency of ontologies as tools for data sharing. Yet this can only happen in the presence of a ‘wider design concept’, which the regulatory framework supplied by consortia helps to achieve in a collaborative fashion. As widely noted within the social sciences, the recognition of cultural diversity and the recognition of the need to facilitate intercultural communication are key characteristics of governance today. The biomedical sciences are no exception. The community involved in this type of research has never been so large, so geographically dispersed and so diverse in motivations, methods and goals. In such a context, efficient channels of communication are important means to ‘make order’ (Jasanoff 2008): that is, to establish a structure through which individuals and groups can interact beyond the boundaries imposed by their location, disciplinary interest and source of funding. Consortia play an important role in the management and distribution of labour (and accountability) relating to data sharing, as well as in the regulation of data ownership. By making access to bioinformatic tools conditional on the adoption of specific data sharing practices, curators use consortia towards ‘the co-production of technical and social orders capable of simultaneously making knowledge and governing appropriation’ (Hilgartner 2004: 131). Thus, consortia serve a regulatory function that is complementary to legal frameworks, which are typically constructed by non-scientists and imposed by state agencies rather than emerging from the experience of practitioners. Last but not least, the regulation of tools and practices facilitating communication among data users might have one additional consequence: to encourage both scientists and policy-makers to question and enrich their understanding of the role of data within research. Thanks to their exposure to diverse epistemic cultures within biology, the curators of community databases and bio-ontologies are acquiring an increasingly sophisticated understanding of the complex array of methods, tools, practical skills and conceptual baggage needed to evaluate the quality of data and to use data towards creating new knowledge. Through institutions such as consortia, data sharing is regulated so as to involve dialogue not solely over data, but also over the theoretical assumptions and tacit knowledge underlying their production and reuse. It remains to be seen whether consortia will continue to voice epistemic diversity and highlight local agency in ways that might help to push biomedical research beyond its current data-centric mode.
Acknowledgments The inspiration for this piece came from various interviews to database curators and users carried out between 2004 and 2008. I am particularly grateful to the staff at the Gene Ontology Consortium and the Arabidopsis Information Resource. I also thank Alberto Cambrosio for his help in drafting this piece; Mary Morgan, the ‘facts’ group and my colleagues at Egenis for illuminating discussions; and the audience at the 4S meeting in Rotterdam, August 2008, for excellent feedback. This research was funded by the Leverhulme/ESRC project ‘How Well Do “Facts” Travel?’, based at the Department of Economic History of the London School of Economics, and by the ESRC Centre for Genomics in Society of the University of Exeter.
Notes 1 See the controversies on the role of induction surrounding Holliday (1999) and Allen (2001) in BioEssays.
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2 For a study of the development of standards to enable data analysis on a large scale, see Rogers and Cambrosio (2007) on microarrays. 3 Sue Rhee website, accessed August 2007: http://carnegiedpb.stanford.edu/research/research_rhee.php 4 See also OECD (2007) Guidelines for Data Sharing. 5 See for instance Stein (2008) and Buetow (2005). Lee et al. (2006) provide an excellent analysis of the ‘human infrastructure’ of cyberinfrastructure. 6 A typical example is the website set up by the National Science Foundation as a virtual ‘Office for Cyberinfrastructure’, with news on projects and apposite funding (www.nsf.gov/dir/index.jsp?org = OCI). 7 TAIR homepage: www.arabidopsis.org (accessed 24 September 2008). 8 Such information, usually referred to as meta-data, is crucial for users to assess for themselves the trustworthiness and evidential value of data found in a database (Leonelli 2008). 9 Most notably Bowker and Star (1999). 10 As remarked in a recent review of standardisation efforts in model organism biology, there is a considerable difference between building a ‘perfect ontology’ for knowledge representation, and building a practical standard that can be taken up by the entire community as a means for information exchange. If the ontology is complex, it is unlikely that the wider community will use it consistently, if they use it at all.
(Brazma et al. 2006: 601) 11 All three GO ontologies are designed to represent the processes, functions and components of a generic eukaryotic cell; at the same time, they can incorporate organism-specific features (GO includes data from over 30 species). See Ashburner et al. (2000) and the Gene Ontology Consortium (2004, 2006 and 2007). 12 GO website, www.geneontology.org/ (accessed 24 September 2008). 13 As nicely documented by Goble and Wroe (2004), there is actually much tension between computer scientists and biologists on the criteria and priorities to be adopted in bioinformatics. At least within the bio-ontologies sanctioned by the Open Biological Ontology Consortium, the priority is clearly given to biologists: as the ultimate users of the tool being produced, they should be the ones determining how it is developed. 14 One of the strengths of the GO development paradigm is that development of the GO has been a task performed by biologist-curators who are experts in understanding specific experimental systems: as a result, the GO is continually being updated in response to new information.
(Hill et al. 2008). 15 As GO co-funder Suzanna Lewis observes: careers are measured by the success of the project and the strengths of an individual’s contribution to the project’s goals. This attitude allowed us to remove both our egos and our concerns for individual recognition from the search for a solution to the data-interconnection problem.
(Lewis 2004: 103.3) 16 This is particularly relevant to the OBO Foundry, a subset of OBO ontologies whose curators are actively engaged in testing and developing further rules for ontology development (Smith et al. 2007). 17 Lewis describes effective collaboration as an ‘unforeseen outcome’, yet points to it as ‘the single largest impact and achievement of the Gene Ontology consortium to date’ (Lewis 2004: 103.3). 18 This shift is also discussed by a growing literature on ‘collaboratories’ (intended as ‘laboratories without walls’), as exemplified by Bafoutsou and Mentzas (2002) and Finholt (2002).
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34 Innovative genetic technologies, governance and social accountability Andrew Webster
Introduction There has been a long-standing debate over the contribution that has been made by medical innovation to health improvement. Reference is often made, for example, to McKeown’s (1976) analysis of the limited contribution that medicine per se has made to population health, arguing that more progress has been made over the past century through general improvements in public health (especially in regard to sanitation and hygiene) than through the changes wrought by increasingly sophisticated health technologies (see Harris 2004). Sociologists have argued in a complementary way that health improvements are also about broader changes in social structure and a more equitable distribution of income and wealth. Yet, clearly, technical development in medicine has occurred and now enables clinicians to undertake quite routinely what have been in the past highly dangerous procedures. Heart transplants or brain surgery are cases in point. Genetics, and more recently genomics, are increasingly seen as fundamental to many if not all ‘breakthroughs’ in contemporary biomedicine. These innovations rely on ever greater technical sophistication and clinical skill, an extensive range of support sciences (such as haematology, immunology or pathology), a supportive regulatory environment, and perhaps most important of all, willing patients who in the early stages of a technology act as ‘moral pioneers’ (Rapp 1999) negotiating the choices, risks and hazards of these new techniques on behalf of others. On the other hand, the increasing sophistication of health technology to probe, rechart, and redefine pathology may serve to generate new forms of disease, as Foucault (1988) has argued in regard to the role of screening in health care: this can simply produce the asymptomatically ill, as in screens for hypertension in assessing blood pressure levels, or the use of highly sophisticated molecular diagnostics that render conditions that are known as ‘clinically silent’: that is, they show no symptoms and indeed may never do. Innovative technologies here create and define diseased bodies and do so for people who have no sense, no lived experience of being ‘ill’: they are the ‘new ill’. To this extent, health innovation is generative of new uncertainties that cannot, as risks, be easily calculated. Much of the success of biomedicine has been in coping with acute medical problems, but in doing so this has relocated patients from acute illness into the category of the chronically sick. 486
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Recent commentary from within medicine itself raises similarly strong doubts about the social utility – or what the authors call ‘the fidelity of health care’ – of contemporary medicine. Woolf and Johnson (2005), practitioners in US family medicine, argue that few innovations make the ‘break-even point’ wherein they provide real gain to health care. They note that industry’s technological advancement finds support with the American public, which marvels over scientific discovery and technological breakthroughs. Robotic devices and genome mapping are more thrilling than bland quality improvement efforts, such as reminder systems and organizational redesign, irrespective of whether the latter saves more lives. (Woolf and Johnson 2005: 550) And indeed, policy-makers themselves acknowledge the limits of medical innovation and difficulties in determining its health care benefit as the Australian Productivity Commission recently concluded, it is virtually impossible to conclude that a particular technology will always be cost effective or, for that matter, not cost effective – this will depend on who is receiving it and the cost effectiveness of available alternative treatments. (Australian Productivity Commission 2005: xlv) Moreover, the wider social utility of health innovation and the interventions deriving from it are in doubt inasmuch as they typically neglects some of the major health problems that prevail at a global level, especially in respect to the effects of infectious disease. One might presume that the widespread adoption of a health technology, including those founded on genetics, is a reasonably good indication that it must ‘work’, and is effective (in terms of relative cost/benefit analysis) and efficacious in terms of actually performing a specific function well. Yet, while the state seeks to foster innovative health technologies, it is precisely because of the pace and growing complexity of innovation that governments are, at the same time, anxious to identify those developments that are ‘evidencebased’ (May et al. 2001). Does the evidence-base support claims to therapeutic and/or diagnostic utility and value compared with existing technologies? But what counts as failure or success of a clinical intervention can often be difficult to define, especially in managing chronic disorders such as cancer: does the chemotherapy work, and what sort of criteria should be used to determine this? Sometimes drugs that have the desired biochemical effect on the body can produce side-effects that can be experienced symptomatically as a worsening of the disease itself. In such circumstances, whose evidence of utility should count the most – that of the clinician or that of the distraught patient? This chapter explores the ways in which innovative genetic technologies in the healthrelated biosciences depend upon new forms of knowledge and clinical practice. In doing so, they disturb conventional biological and social boundaries while acting as, besides creating the need for, new forms of governance to manage the uncertainties this creates. The technologies in the field, including genetic screening and tests, pharmacogenetics and cloning, are characterised by both greater precision and new forms of risk, uncertainty and a growing range of unknowns. Innovative genetic technologies, like many other areas of contemporary science, carry both greater power and higher levels of risk and provisionality which can only be managed through distributing responsibility for it across a wide range of social, economic and political actors. 487
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One of the main reasons why the ‘new’ genetics disturbs the bio-social is that it disturbs the normal spatial and temporal frameworks through which we make sense of the body, disease and our health futures. Its spatio-temporal footprint is complex precisely because it redefines the social and embodied relations of past and present (especially with respect to wider kin) and, through its genetic foretelling of future problems, carries within the body ‘the insidious whisper of ruin, a single bad idea lodged in every cell’, as McEwan rather grimly observed (McEwan 2005: 94). In the following pages, I discuss the key forms of knowledge production associated with genetics, the senses in which these are new, the forms of socio-technical uncertainty created by contemporary genetics and the forms of governance and accountability that these create. I argue that the resulting redistribution of responsibility for managing genetics is not peculiar to this specific area of biomedicine, but, while increasingly commonplace throughout the new bio- and informatics-based science and technologies, it takes on a particular form within genetics.
Producing genetic knowledge There are a range of sites and epistemic and technical practices that are associated with the production of forms of knowledge that have a specifically genetic character. Typically these include sites of classification, diagnosis, testing, and therapeutic and curative (and more recently public health) interventions. Traditional genetics knowledge has been about hereditability and its management; contemporary genomics is more about identities, the isolation of specific and sensitive measures or ‘markers’ for them, and their subsequent manipulation. Central to this is the idea of the genetic sequence, a biological pattern that can be read as a narrative of normal or abnormal functionality. Beyond, but precisely through, the mapping of the human genome, the Human Genome Project seeks to achieve the predictiveness and accuracy associated with the narratives of highly deterministic single gene disorders, such as Huntingdon’s disease in the more complex multifactorial gene/cell-based disorders that are said to be associated with chronic disease or other pathologies (including, of course, mental ones). As it turns out, matters are not so straightforward. Even in the context of single-gene disorders, there has been some dispute over the degree to which hereditability can be assumed, despite familial DNA being shared within or between generations. Wilkie (2001) has, for example, observed that ‘the life trajectories of monozygotic (identical) twins are often as notable for their differences as for their similarities, despite their identical genetic constitution and frequently shared experiences during upbringing’ (p. 621). Sometimes, genetic mutations at birth are random or what is called ‘sporadic’, and sometimes these same mutations are inherited, as in the ‘cri du chat’ syndrome. A specific condition, such as Cystic Fibrosis, is now associated with over 800 genetic mutations: some appear to cause the disease, others produce no symptoms whatsoever. Indeed, as Falk had observed over 20 years ago: ‘With each new development in molecular genetics, it became obvious that the gene was nothing more than an intellectual device helpful in the organization of data’ (Falk 1984: 196). Not surprisingly, indetermination in linking gene/disease/outcome patterns is recognised by biomedical scientists as substantially higher in multifactorial conditions. Despite this, the tendency towards both reductionism and oversimplification of the genetic story is commonplace in the media. As Hyman (2002: 139) observed shortly after the draft of the genome had been published: 488
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it’s very hard to write an interesting article that you have found a gene that is responsible for perhaps four percent of the variants, given certain assumptions. So instead, on the front page of a great New York paper … I woke up one morning, on an obviously news-poor day, to see that the gene for worry had been discovered. And I had funded it. Indeed, the form of knowledge underpinning contemporary genomics is much less reductionist and more holistic in its examination of the genome and the complex relations between it and the wide biological system (Dupré 2004). The complications associated with the production of (predictive) genetic knowledge as science are amplified even further when translated into the practices of genetic medicine. Similar clinical symptoms may be based on different gene/gene/environment interactions, while conversely differing clinical symptoms might be traced to a single genetic mutation. In addition the biosocial footprint of genetics must endeavour to find a position within a number of discrete medical arenas, each with its own spatio-temporal range and purpose: the clinical, epidemiological and surveillance medicines that characterise and configure most health systems today. Moreover, unlike clinical medicine which typically is practised in response to patient symptoms of illness, the how and when of the practice of genetics medicine is less easily defined. Apart from single-gene disorders, indeed, it has little to do with symptomatology as such, and more to do with individuals or families seeking information about possible risks, such as requests for genetic tests often made when people are considering having children or during a pregnancy itself. And, as noted earlier in this book, the how and when of relaying and disclosing information to wider kin is a social form of genetics knowledge concerned with managing ‘risky relations’ (Featherstone et al. 2006) and the guilt (Burke et al. 2007) associated with being a ‘carrier’. That is, it is more about ‘being a body’ than simply ‘having a body’ (Habermas 2003). In multifactorial testing – such as may be used in genetic diagnostics in breast cancer – genetics medicine performs in such a way as to create uncertainties (de Vries and Horstman 2007), not least because the form of knowledge production on which risk estimates are based depends on abstractions from population estimates that are then ascribed to the individual as a specific risk factor (Bourret 2005; Samerski 2006). Or as Finkler et al. (2003: 403) say, a person/patient is ‘in a double bind between qualitative certainty and quantitative uncertainty of genetic inheritance’. Knowledge about genetics and its more complex variant, genomics, is expressed then, or ‘enacted’ (Mol 2002) according to a diverse range of priorities, contexts and practices, which in part overlap, in part remain quite discrete from each other. The scientific, medical and social forms of knowledge described above also occupy the different regulatory environments of the lab, of the clinic and indeed of the family, which can itself be seen as a form of social technology in the governance of genetic risk. At the same time, these different ‘ways of knowing’ (Pickstone 2000) about the genetics/body relationship overlap at times, especially in clinical settings. As Lauritzen and Hydén (2007) argue, the ‘worlds’ of rationalist medicine and that of the patient’s lived experience or ‘lifeworld’ are entangled in the doctor/patient encounter leading to contested definitions of normality. In such situations a patient’s lifeworld and its narratives are mobilised in an attempt to reconstruct normality in order to cope, helping to provide a definition of risk with which one can (perhaps literally) live, while practitioners themselves are caught up in the contrasting rationalities of the lifeworld and world of medicine, never simply occupying just the latter. The question arises, then, how far do these features of contemporary genetics and genomics create new forms of knowledge and uncertainty within society and health more specifically? 489
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Novelty in genetic technologies The notion of ‘the new genetics’ is often used to characterise the radical shift in genetic understanding and potential therapies for disease following on from the first, full mapping of the human genome (Kerr 2004; Brown and Webster 2004). Postgenomic genetics should in theory allow bioscientists to identify how genes relate to disease (diagnostics and gene therapy), to drug response (pharmacogenetics), and to nutrition (neutrigenomics): how, in the case of the last of these, for example, a particular diet might help mitigate or pre-empt the onset of genetic disease (Kaput and Rodriguez 2004). A key feature of these developments is the appearance of anticipatory risk assessments of diseases to which individuals (including the pre-born) are susceptible and to which they might only succumb later in life (Bharadwaj et al. 2006). As such, the earlier these assessments are made, the more possible are preventative or coping strategies for both patients and clinicians. Not surprisingly, the UK government considered introducing compulsory universal DNA tests for all newborn babies, but was discouraged from doing so by the Human Genetics Commission (HGC 2005), which argued that there were ethical (and economic) reasons for not doing so. Ethically, such a move could, argued the Commission, be the prelude to new forms of discrimination based on a person’s DNA profile, a new form of social eugenics (see Rabinow 1993). Whether this argument is warranted, the fact that it was made illustrates how the perceived power of genetic testing is seen to herald new and unwelcome changes in existing social relationships. While postgenomic technologies are clearly built on the ‘state of the art’ of bioscience, and in this sense are a deepening of existing knowledge, their innovative character depends on the co-constructed socio-technical novelty that is possible – but still to be made. As such it is not simply the new forms of knowledge (genomics) on which contemporary genetic innovation is expressed but the new forms of social relationship they make possible. As I have argued elsewhere (Webster 2007), innovation has both continuities and discontinuities that prevail simultaneously: What we mean by a new technology is one which both builds on existing bioscience but does so in ways that enable not merely more precise and (perhaps) effective biomedical interventions, but also creates the conditions within which new socio-technical relationships might emerge. This marks out new technologies today that serve to reproduce continuities from the past while at the same time acting as a source of discontinuity in the possibilities they create within and most importantly beyond medicine itself. (Webster 2007: 200) While the material and technological attributes of genomics applications depend on novel and complex bioscience, it is the socio-technical changes they create that make them novel and so sociologically important. As Barry (2001) has argued, What is inventive is not the novelty of artefacts and devices in themselves, but the novelty of the arrangements with other objects and activities within which artefacts and instruments are situated, and might be situated in the future. (Barry 2001: 211–12) 490
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The materiality of genomics – the logic of DNA – does not dictate its expression, either in biological or in social terms, but opens up the possibilities and opportunities for the new, today and in the future. As Butler (1993) has argued in respect to the chromosomal materiality of the male and female sex, the undeniability of these ‘materialities’ in no way implies what it means to affirm them, indeed, what interpretive matrices condition, enable and limit that necessary affirmation. That each of these categories have a history and a historicity … implies that these are both persistent and contested regions. (Butler 1993: 67, emphasis in original) In that sense, the meaning of genetics as transformative and new has to be made real, and in doing so becomes a contested site precisely because of what is at stake. Pre-implantation genetic diagnostics (PGD), for example, carries with it the possibility and opportunity for both assisted reproduction of a child (free from genetic mutation) and for ‘spare’ embryos that can be used to create stem cell lines that might form the basis for therapies ten years hence. As Franklin and Roberts (2005) have shown in their examination of PGD, the frozen embryo which is selected for pre-implantation in the IVF clinic evokes a sense of reproductive continuity when it is seen as the first step towards paternity, and in spatial and temporal terms encompassed, embraced, by the rhythm and narrative of ‘having a child’. Yet the same prospective parents and clinicians frame a second embryo very differently when donated for embryo research, outside of the reproductive domain. This second embryo occupies a very different spatial and temporal universe that is populated by different social actors and so creative of new arrangements not least through its performing a role in conjunction with, in Barry’s (2001) phrase, ‘other objects and activities’, such as research labs, biocapital and the tissue economy. Tissue (as embryonic stem cells) becomes the property of public and private research and thereby attracts economic ‘biovalue’ that has absolutely nothing to do with its familial, personal origins or identity. That this is possible is also what makes this such a contested and controversial political, moral and economic issue occupying two very different arenas of medicine and science, each with distinctive epistemic and practical objectives. It is these co-valencies of both continuity and discontinuity in both forms of knowledge and practices that thereby create the demand for novel forms of social regulation and governance in the field of genomics. Before I explore this question of governance, given that the radical novelty of genomics has to be materialised, made real, it is worth exploring in brief what sorts of socio-technical innovation are being pursued and what possibilities and limitations they might have.
Socio-technical innovation: diagnostic tests, pharmacogenetics and cloning in social contexts Three areas that promise socio-technical innovation and where considerable commercial and policy investment has been made in recent years are genetic screening and testing, pharmacogenetics and cloning using new technologies in embryonic stem cells research. In regard to the first of these, screening has grown rapidly as a public health measure designed to identify genetic mutations and so prevent or at least ameliorate the onset of disease. Not surprisingly given the diverse political and policy cultures of regulatory 491
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states, screening programmes have not been adopted uniformly, as Parthasarathy (2007) has shown with respect to breast cancer. Where they have been adopted, highthroughput microarray technologies have enabled large population groups to be screened. Though these screening programmes (a form of collective ‘medical gaze’) must meet certain public health criteria before they are implemented (such as being targeted at important health problems, have a sufficiently high level of precision, and focus on treatable disorders), as Prior (2001) observes, the growing sophistication of such programmes means that the ‘boundaries of abnormality’ are being pushed back ‘to find disease at earlier and earlier stages’ (p. 252). As a result, we see the emergence of a population who are susceptible but yet to express genetic disorders. As Bharadwaj et al. (2006) note, ‘In so doing innovative health technologies draw into the orbit of medical care a new population of people who are not yet ill, but who are seen as having the potential of succumbing to some identifiable disorder’ (p. 23). In regard to genetic tests one can consider by way of example the field of haematological (carcinogenic) disorders, such as acute myeloid lymphoma. In the past five years or so, increasingly detailed information about the significance of genetic mutations or translocations in a specific gene for the survivability of patients has become available (e.g. Haslinger et al. 2004). Such information, derived from ongoing clinical trials that test the clinical utility of new drug or radiological treatments, provides increasingly precise evidence about the responsiveness of patients with a specific mutation to therapy. Poor responders should, therefore, be in future excluded from treatment, not least on the basis of effective use of expensive and limited resources. In practice, the transformative possibilities of this genetic information in reshaping who does and who does not get treated are mediated by professional and organisational considerations. This is to be expected, given the argument above that the material power of genomics has to be made and is not simply revealed. Thus, the ways in which genetic tests are being used to shape clinical decision in managing patients with disorders such as myeloid leukaemia depend upon: hierarchies of evidence used to determine prognostic outcomes with the need to treat in the short term outweighing longer-term trials data; the determination of the risks of (non-)intervention, especially with respect to managing and ‘disposing’ of the patient and a duty of care; the interpretation of laboratory and clinical data by clinicians, especially in multidisciplinary team meetings where competing (non-genetic) paradigms allocate a more minimal role to genetic data; their understanding of the relationship between geno- and phenotypes (the symptomatology of the patient) and how this can be used to determine the most effective intervention (Cox 2007). In such circumstances, innovation in diagnosis and treatment is unlikely to be radical but more incremental, and the power of haematological genetics circumscribed. A similar argument can be developed with respect to the transformative capacity of pharmacogenetics. It is with regard to pharmacogenetics that some of the greatest expectations have been generated about a shift in conventional drug regimes. This second area, pharmacogenetics (PGx), is a subfield of pharmacology interested in the ways in which a person’s particular genetic make-up (or ‘genotype’) affects the response they make to a specific drug (Hedgecoe 2006; Webster et al. 2004). Some 492
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commonly used drugs, such as warfarin for anti-coagulation, have a very narrow ‘therapeutic index’, which means that the most beneficial and non-toxic effects of the drug are limited to those patients who have a particular genotype. So, if one knew a patient’s genotype, pharmacogenetics could, if fully realised, not only reduce unwanted side-effects for patients but also thereby lead to the more effective (therapeutic) use of drugs overall. However, in order for pharmacogenetics to be implemented routinely in health service delivery, there are certain socio-technical factors that will shape its uptake. At a macrolevel, differences in the economic logic of health care systems will play an important role. So, in a socialised health care system, such as found in the UK and to some extent in the Netherlands and Australia, resource allocation within the context of evidence-based medicine plays a key role, and as such the utility threshold that genetics must reach is higher than in more market-based systems. It may well be the case that in fee-based markets for health care, greater access to and use of genetic services (especially screens and tests) is higher. In itself, however, this says little about the actual usefulness and value of tests per se and more about the model of health as another consumption item At another level, the introduction of pharmacogenetics requires a shift in culture among health care professionals in relation to prescribing practice, including the perception that there is some added value to be had. In the case of many drugs, where safety is not a major concern and where the therapeutic index is wide, this may not be relevant. In addition, there is a concern that there may be a resistance to or weariness with the promotion of the importance of genetics. Health professionals may also be concerned about the consequences of withholding a drug in certain circumstances on the basis of genetic information. The factors affecting clinical adoption have been examined by Hopkins et al. (2006). They have shown that there are a number of significant barriers, including the complexity of clinical contexts and the weak evidence base supporting potential tests, as well as issues of practicality, utility and cost. First, there are many influences on clinical decision-making. Decisions on the clinical utility of PGx will relate not only to the value added to the treatment, but also to the cost/benefits of the treatment itself, the degree of certainty offered by the test and issues of cost-effectiveness. However, clinicians currently have little evidence of the clinical utility, or even the validity, of PGx. It will therefore be imperative to provide clear information linking genotypes to clinical outcomes, and advice on how this might affect decisions to prescribe a drug, or alter its dosage. Professional acceptance is unlikely to be forthcoming where current practice is considered acceptable and the utility of PGx is unclear. This is not necessarily likely to be improved by the appeal to evidence from clinical trials, for as Williams-Jones and Corrigan (2003) observe, ‘Determining which genetic markers accurately correlate with positive or adverse drug response will be extremely difficult given the complex interaction of multiple genetic components with environment, diet, cultural background and variable patient compliance’ (p. 380). Elsewhere, practical barriers may include the potential for time and workload burdens (for laboratories and clinics) to increase, especially if informed consent and counselling are deemed necessary. More generally, PGx may require a culture shift in prescribing practice and the need for (re-)education. There are also likely to be resource implications, given the potentially high ‘start-up’ costs of new technology; although tests that assist in the allocation of scarce resources might be well received by health care payers. Finally, there may be ethical concerns associated with denying treatment because a person is assigned into a particular category of genotype. 493
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In light of these constraints on the field, as has been shown (Martin et al. 2006), there are a range of clinical, regulatory and commercial uncertainties in the PGx field that are likely to prevail for the foreseeable future. Regulators, for example, will need to determine whether and under what circumstances to make a PGx test compulsory, or when it might be given at the discretion of the medical practitioner. If and when routine genetic testing is introduced into the clinic, this will create a number of concerns for regulatory agencies. Regulators will have to address the value of PGx tests in terms of their analytic validity, clinical validity, clinical utility, and the ethical, legal and social issues they raise. Most importantly, the key issue for adoption is clinical utility – whether use provides real patient benefit compared to other conventional tests, such as blood tests. And this matter of patient benefit is being shaped and defined through other – non-governmental – agencies and patient advocacy groups seeking access to ‘the latest’ genetic tests and potential therapies. At the same time, concerns over the use (rather than simply clinical utility) of such tests have been expressed by consumer groups and civil liberties organisations, particularly in regard to the possibility of misleading or harmful information entering the public domain (see, e.g., Ratcliff 2003). The third area, which is seen to represent a radical departure from existing bioscience, is that of the cloning of human embryonic stem cells (hESC) for therapeutic purposes. While much of biomedical science has concerned itself with cells, tissue or organs that are complete as (dys)functioning components of a body, stem cells research seeks to identify those characteristics and processes through which all forms of human tissue (all 220 organs of the body) come into existence. As a field of research, this is said to have considerable promise in terms of its therapeutic possibilities to treat disease, as well as its role in drug development (principally toxicology testing to ensure safer medicines) and tissue engineering, precisely because it should be able to either replace or repair (genetically or physically) damaged tissue. The prospect of cell therapy is central to the novelty and promise of the field, and it is not surprising that social science research on stem cells has related to their role in what is seen as a wider ‘tissue economy’ (Waldby 2006). Other matters of concern include the meaning of consent to use tissue (Franklin 2003), the politics of ‘cloning’ (Parry 2003), and debate on the ethical grounding of hESC research (Wainwright et al. 2006), while more recent analyses have located the emergence of embryonic based research in its more historical context (Martin, Brown and Kraft 2007). Within the broad field of stem cell research itself, there is a strong interest in and need to develop international standards for hESC lines, since without this it will be impossible to ensure the quality and safety of the lines for research and future clinical use. In turn this is linked to the need to agree robust markers for lines and a functional test of whether the cells will themselves differentiate. There is considerable effort being made to address this issue, for example through trying to determine the gene expression patterns of cells at all stages of development, as cells differentiate. At present, however, it is proving difficult for different groups of investigators to find even the same gene expression patterns: without this it will be very difficult for the field to develop as quickly as many would like, and certainly makes clinical application some way off. Indeed, as Michael et al. (2007) have reported, because of the plasticity of the biology they are trying to handle, scientists in the field report that their experiments are ‘non-reproducible’. As with many other areas of innovation in the biological sciences, these difficulties in tying down living tissue in such a way as to control its genetic and functional expression cannot easily be resolved without a concerted effort by the relevant scientific networks. This requires the international mobilisation of scientific laboratories as a precondition 494
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through which some agreement over genetic markers can be secured. But in addition, the diversity of experimental protocols and practices between labs has to be reduced before the claim can be made that data on cell lines has been produced according to agreed standards, relating at least to the media and culture techniques used. The International Stem Cell Initiative involving 20 labs from the Europe, the US, Israel, Australia, Canada and Sweden was established precisely for this purpose, and its primary goal is to develop a global set of standardised criteria for the derivation, characterisation and maintenance of stem cell lines. In regard to the genetics of the lines, four or five genes (including Sox2/OCT4/NANOG) are seen as favourite biological markers that appear to be defining features of stem cells, but there remain serious problems in claiming that these provide 100 per cent sensitivity and specificity measures for a ‘true’ stem cell line. Sociologically, this is to be expected, since it is clear that biological markers do not refer to some intrinsic property of a line but must be constructed from a range of possibilities. As a result, scientists involved in the ISCI programme have sought to distinguish embryonic stem cells from other types of cell, not in terms of a definitive set of markers or specific type of tissue, but in terms of a set of orthogonal, interdependent relationships (between the cell and its ‘niche’, for example) that they agree appear to confer a degree of pluripotency. Agreeing some biological standard for tissue relationships is clearly a difficult task, for it requires control and measurement of a complex dynamic biological process. However, this approach appears to have been adopted because, compared with an attempt to agree to an unequivocal set of markers, it does allow the field and its scientific networks to continue (Eriksson and Webster 2008; Webster and Eriksson 2008). ‘Wet biology’ – the attempt in vitro to understand and control biological properties of live (in vivo) tissue – can only be managed, therefore, through a form of knowledge that depends on the subscription to a common set of procedures rehearsed across discrete labs. This is a form of pragmatic science that enables researchers to continue to work across networks with some sense of an agreed agenda about a shared object of analysis. In ironing out contingency and heterogeneity in both biology and laboratory, the stem cell network attempts to stabilise its scientific mode of production and reproduction; at the same time it must articulate (Fujimura 1987) with clinical researchers and practitioners, as well as regulators, and seek to secure support for the clinical safety and utility of its results. This will be no easy task, not least as alternative somatic (or ‘adult’) cell lines are already routinely deployed as therapies and are seen to be more useful because it is possible to use a person’s own cells in treatment, so avoiding the problem of an immune response. In these three cases, genetic screening/testing, PGx and stem cells research, it is clear that the innovative dynamic of new forms of genetics knowledge and practice is hedged about by uncertainties that will shape and limit their transformative potential, often overstated in the hype that surrounds them (Brown and Michael 2003). The new forms of knowledge offered by genetics in each case are not only technically problematic but are also not easily embraced by existing social-technical relations in the clinic. The result is that the degree to which we are likely to see a radical reshaping of practice is limited. To paraphrase Butler, the undeniable materiality of genetic mutations, of gene/drug interactions and of stem cell lines ‘in no way implies what it means to affirm them’: new forms of knowledge, including much more provisional forms of understanding, and the social relations that enable their expression are both needed for the affirmation of these developments in genetics. Innovation in genetics technologies, not surprisingly, may be greater though at the same time more unstable when there is less socio-technical closure around a strong 495
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technological and regulatory trajectory. Market-based health care systems will be one of the more likely contexts within which this will be most evident. Indeed, in the US there has been a rapid growth in genetic testing, screening and personalised diagnostics where genetics and its utility is defined in terms of consumption rather than according to the professional and institutional structures of health care delivery. Even stem cell research and therapies, which have been heavily restricted at a federal level, have been, at the level of the individual state, promoted quite vigorously. Similarly, in China and India, where the social infrastructures of science and technology are undergoing rapid change, and where there is a large pool of naïve patients who are on the margins of citizenship (Salter 2007), innovation can be both more maverick (Bharadwaj and Glasner 2008) and exploitative (for example, through the global off-shoring of clinical trials by large pharmaceutical companies to both countries). In light of the argument, we are seeing developments in genetics that carry the possibility for a new type of understanding of the body and ‘life itself’ (Rose 2006), but one that is shot through with uncertainties and mediated by existing social relations and practice. It has been argued that clinical uptake is thereby likely to be problematic. These technologies also pose new questions in regard to governance and accountability, and it is to this issue that we now turn.
Governance and accountability The growth of innovative medical technologies in the field of genetics has not meant that they have gone unregulated. On the contrary, precisely because such medical technologies have had the capacity to develop rapidly and expensively, the state has complemented its policy for fostering innovation with a regime that seeks to control this process, as well as the researchers or clinical practitioners using or hoping to develop them. The promotion and control of new health technologies is managed at both national and global levels: within Europe, for example, national regulatory regimes differ in respect to which innovations are promoted or which restricted (as, say, in the field of stem cells), and what broader strategic goals are set: these can be seen as being differences in the priorities of the ‘regulatory state’ (Moran 2001). At a European level, the harmonisation and regulation of medical devices and procedures seeks to stabilise new technologies for both regulatory and trade purposes. Faulkner et al. (2006) discuss how this can be particularly difficult for the regulatory state when new bio-objects – such as tissue-engineering products and processes – do not fit within existing classificatory regimes. There are a number of ways in which the governance of medical technologies is pursued by the state. Three are especially important: formal regulation, what might be called ‘socio-technical governance’, and finally the evaluation of research proposals or clinical trials about new genetic technologies through review and approval mechanisms. In regard to the last of these, consent and research governance forms and related documentation used to approve research act as technologies that relocate a patient from the landscape of therapy to that of a research trial. Technology itself performs in a different way as part of a trial or research experiment and is given a special provisional status as one of becoming, inasmuch as its actual effect (in terms of a physical one) is uncertain or open to redefinition such that what marks out its specific role in health care is yet to be stabilised. The redefinition of existing drugs through pharmacogenetic clinical trials is a 496
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case in point (Webster et al. 2004). The plasticity of both the technology and the patient in a trial is evidenced by Bourret’s (2005) observation that a patient may occupy two positions within what she calls the ‘clinical collective’ of the trial, switching between a therapeutic and experimental modality according to the results of a mutation test within the trial. This in turn is dependent on the level of resources available for therapy compared with those that permit use of drugs within a trial (but not as part of a diagnostic or therapy): as she says, ‘the classification of these activities as clinical or research-oriented is predicated not only on technical and biomedical considerations, but also on the official recognition, regulation and financing of these activities by health authorities at the local and national level’ (Bourret 2005: 56). Formal regulation – as expressed through the requirements set down for a clinical trial – is enabling of continuing genetics-related innovation inasmuch as it keeps open new possible pathways down which clinically driven research might go. But at the same time, there are a number of features that characterise the developments discussed above that appear to be creating the need for new forms of regulation that go beyond the clinical collective (Bourret 2005) of the trial itself. One of the aspects of genetic/genomics research, for example, is that it is generating a huge volume of genetic information, such that information governance will become a major preoccupation for regulators. This is evident, for example, in the need for regulatory oversight of genetic information that is being and will be made available by biobanks to third parties at a global level. Moreover, not all have equal access to such information at a global level, so concerns are being expressed over a growing ‘genomics divide’ and the need for new forms of inclusive governance that will help poorer countries access genetic information (Langlois 2006). However, while access to genomics information as a global public good should be a political priority, it is also the case that what is being accessed will require very careful handling by users. As we have seen above, the translation of genome science into genetic practice – be it in genetic diagnostics, PGx or stem cell research – engenders information that is both more accurate in terms of its specificity but less predictive in terms of its utility and, within the lab or the clinic, has a plasticity that is difficult to control. There are various ways in which this is being managed within regimes of governance found within formal regulation. At a meta-level, and in part in response to the perceived risks – physical, ethical and legal – associated with new techniques and products, and incidents where patients or volunteers have been harmed, we have seen the strengthening of formal regulation. In the UK, for example, this is illustrated by the Human Tissue Act introduced in 2004. The Act regulates the removal, storage and use of human tissue, including cells, created a new offence of ‘DNA theft’ and is the vehicle through which research and clinical establishments are licensed to remove tissue and so thereby meet the terms of the EU Tissues and Cells Directive. Elsewhere, regulatory agencies have sought to manage the risks associated with the development of chimera that are being created in stem cells research labs as model systems to test stem cell differentiation. ‘Inter-species entities’ are to be regulated in the UK, for example, through the new Human Tissue and Embryo Bill to be implemented in early 2009. The regulatory constraint is accompanied by regulatory approvals for certain types of embryo-related research in the area; again, we see a combination of strengthening and enabling regulatory oversight. Paralleling these regulatory developments we have seen a significant growth in what has been called ‘regulatory science’ (Irwin et al. 1997) that is deployed upstream by (primarily industrial) researchers in anticipation of regulators’ requirements: e.g. the safety and toxicity of new compounds need to be tested through studies of in vitro metabolism, 497
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comparison of human and animal cell models used to determine toxicity and pharmacodynamic effects, the identification and use of new genetic biomarkers, the deployment of functional imaging techniques such as MRI and so on. Downstream, regulation requires that new products and associated technologies conform to ‘good manufacturing practice’ (GMP), a concept that has its origins in the early days of pharmaceutical regulation in the mid-1950s when concerns over the quality and safety of drugs led the recently established World Health Organisation (WHO) to press for international manufacturing standards to protect public health (Kay 1976); the terms and conditions of GMP must be met before a product can be approved for sale or licensing for market, covering the safety and quality of a good or device. Notwithstanding the stronger institutionalisation of regulatory process, the plasticity of contemporary biomedical genetics underpinning many new products and technologies has encouraged regulatory agencies to adopt a closer relationship to those they regulate, and this we can see as a distinctive form of what was termed above socio-technical governance. For example, in regard to PGx, the Food and Drug Administration in the US has introduced the Voluntary Genomic Data Submission (VGDS) initiative (initially known as the ‘safe harbour’ proposal) whereby firms provide raw data on pharmacogenomic and pharmacogenetics research to the FDA to allow both parties to examine complex genetic information (Hopkins et al. 2006). This provides a niche in which the data can be examined without this, thereby, compromising subsequent formal submissions to the FDA. Similarly, the FDA, with the strong encouragement of the US National Cancer Institute, is now allowing preclinical genetic/genomic and related data to be used to secure approval for (biotech) drugs to be trialled in patients, so-called Phase 0 trials. In these cases, as in other examples that could be cited, it is not the formal regulatory approach that is deployed but a negotiated and iterative form of governance that acknowledges the provisionality of innovation. These developments could be seen negatively as a form of ‘regulatory capture’ (Busfield 2006) or a new form of transparency and accountability. But they are also evidence of a wider phenomenon in the field of biomedical innovation generally, and one that is especially marked in genetics. This is that the capacity to generate uncertainties, unknowns, appears to be as strong as is the ability to deliver clinical benefit: as has been noted, innovative developments in … contemporary science, carry both greater power and higher levels of risk and provisionality which can only be managed through distributing responsibility for it across a wide range of social, economic and political actors and networks within and beyond the lab. (Webster and Eriksson 2008: 110) This will, in genetics in particular, include patients (and to a degree medics) who must cope with the burden of responsibility and possible anxiety that results from both the boundaries of abnormality being pushed back, and the boundaries of ill health and disease being brought forward from the future.
Conclusion I have argued in this chapter that current developments in genetics are innovative only inasmuch as they can be carried by existing or novel socio-technical relationships. I have 498
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also suggested that the very materiality of contemporary biomedical science is proving more difficult to control and has called for standardisation, a regulatory deepening as well as opening, and the redrawing of the terms on which patients in particular engage with biomedicine. While the clinical reluctance to take up new genetic technologies, described earlier with respect to genetic diagnostics and PGx, acts as a brake on innovation, it also thereby provides a check on uncertain and potentially risk-laden clinical practice. Whether the new regimes of governance are seen to provide for the sort of accountability that should be demanded by both clinicians and patients is yet to be seen. In distributing the risks of innovative genetics, science ‘has acquired the power to define situations beyond what it knows about them’ (Santos 1995: 47).
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35 Genomic platforms and hybrid formations Alberto Cambrosio, Peter Keating, Pascale Bourret, Philippe Mustar and Susan Rogers
1 Introduction: what do we/they mean by platform? The title of this chapter is somewhat cryptic, possibly even obscure. What do we mean, exactly, by ‘platforms’? In what sense can a formation be said to be ‘hybrid’? And how do these notions apply to genomics? We will begin the chapter by surveying how biologists and clinical practitioners have used the term ‘platform’ and how this term has been adopted and re-specified by social scientists. As will become clear, platforms can be characterised in terms of the hybrid formations that underlie them and that they generate. The two subsequent sections of this chapter will therefore focus on two categories of platformrelated hybrids: socio-economic and bio-clinical hybrids. The final section will briefly discuss the need for an analytical framework articulating both types of hybrids. A caveat: we have not tried to be comprehensive and ecumenical; rather than summarise everything that has ever been said about platforms and hybrids, our review of the literature is highly selective and focuses on topics and approaches we find relevant and interesting. While social scientists are still likely to wonder about the meaning of ‘platforms’, this term is now commonly used and understood by natural scientists and clinicians. A search for its occurrence in the title of articles listed in PubMed shows that while it was found on average in 23 titles/year during the 1990s, this average rose to 151 during the period 2000–6. A text-mining analysis of the content of the post-2000 titles (not detailed here) teaches us that while the term is sometimes associated with a more literal referent (as in the case of physical and occupational therapy or orthopaedic surgery), it most frequently appears within clusters of terms related to genome or proteome analysis and, in particular, to techniques such as microarrays (gene chips) and protein mass spectrometry. In this ‘common sense’ meaning, platforms thus refer to sets of related technologies mobilised by research domains that are increasingly dependent upon the use of sophisticated instruments that often combine computer equipment and biological reagents. The term is also used as a synonym of, or in relation to, ‘core facilities’, namely collections of equipment shared by researchers from one or more institutions. An example of this kind of usage can be found in a Wikipedia entry describing the ‘Molecular biology core facilities’ of a US cancer research institute: 502
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The Molecular Biology Core Facilities (MBCF) was created to allow investigators at the Dana-Farber Cancer Institute (DFCI) access to cutting edge molecular biology tools which would be tested and developed in a shared setting … The MBCF at DFCI was first started in 1984 to supply small oligonucleotides to researchers … Because of the growing demand for oligonucleotide primers to initiate DNA replication and for probes, a plan was put into place to develop a core facility to produce reagents for molecular biologists as well as instrumentation for the analysis of DNA and protein samples. This plan stated that a charge-back method would be put in place to fairly spread the resources as a shared facility. A Peptide Synthesizer … was brought online in 1988 … A Protein Sequencer … was installed in 1989 quickly followed by several DNA Sequencers which were the first to use fluorescent dye terminator chemistry. Mass Spectrometers were acquired to provide analysis of synthesized peptides but soon grew into a stand-alone service in high demand. BIAcore instrumentation added for ligand kinetics in 1996 … In 2007 a large expansion of high throughput proteomics using mass spectrometry has been funded by private donation.1 The MBCF is a member of the Association of Biomolecular Resource Facilities (ABRF), established in the late 1980s. Several working groups within the ABRF, each corresponding to a different ‘resource technology’, engage in activities such as regular surveys of the facilities using this technology, with the explicit goal of ‘taking the pulse’ of the field, thus contributing, implicitly, to its self-regulation (in the case of microarrays see Knudtson et al. 2006). This is the situation in the US. In Europe, especially in France, bottom-up initiatives are quite often replaced by state-driven, top-down interventions.5 For instance, the establishment and management of core facilities for the life sciences is supervised in France by a consortium consisting of the research ministry, university presidents and all major state research agencies. The consortium has provided the following official definition of a life science ‘research platform’. A platform is the grouping together in a same location of equipment and human resources that will allow a community of users to access high-quality technological resources. By subscribing to the charter of the life sciences platforms, a given platform agrees to be accessible at the regional and national level not only to local teams but also to external researchers independently of their institutional attachment (public organisms, commercial firms … ). Official recognition as a platform and access to the related financial and human resources are predicated upon adherence to a general set of specifications that can be adapted to the peculiarities of a given platform.2 At the end of the 1990s, an additional layer of state intervention led to the establishment of a national ‘Genopole’® network consisting of eight regional organisations, each equipped with an array of ‘platforms’: for instance, the Pasteur-Île de France Genopole® currently lists nine platforms (genomics, DNA chips, proteomics, etc.) on its website.3 Thus, in both the US and the French life sciences, researchers and science policy administrators routinely use the term ‘platform’, although the exact referent varies. Sometimes it refers to a given technology (e.g. gene chips, mass spectrometers) or even to a particular brand of an instrument (e.g. the ‘Affymetrix GeneChipTM platform’), sometimes to specific 503
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arrangements of related technologies, and sometimes to the institutions harbouring those technologies. The indefinite extension of the term does not prevent the concerned actors from denoting, in context, instrumental and institutional realities. In spite of this semantic flexibility, and in spite of the difference in the approaches (state-planned versus bottomup initiatives), platforms on both sides of the Atlantic have been the target of considerable ‘investments in forms’, i.e. of material, technical and institutional interventions – such as the definition of norms, standards, administrative categories, etc. – that make possible the establishment of equivalences between the different material instantiations of this notion and thus the coordination of their activities (Thévenot 1984). Unsurprisingly, this emerging reality has attracted the attention of economists of innovation. Building on the work of R&D analysts such as Maureen McKelvey (1996), Aggeri et al. (2007) in their recent analysis of the French life sciences platforms, refer to them as interconnected networks of research units and commercial firms whose main goal is to share equipment and skills. Such a working definition is not very different from the common sense use of the term – unsurprisingly, the authors acknowledge the heterogeneity of the arrangements covered by the term – but it does lead to several relevant analytical remarks. First, it emphasises the ‘hybrid’ nature of platforms in the specific sense that they do not respect the time-worn dichotomy between open or public science, and private science (more on this in Section 2). Their implicit or explicit aim is to link science and innovation. Second, while shared facilities in the physical sciences such as CERN have been associated with the need for large, extremely costly equipment, life sciences platforms are not instances of ‘big science’. Yet, they stand out as distinctive institutions because of what we have already referred to as ‘investments in forms’. Finally, platforms as unique institutional configurations raise peculiar organisational and governance issues: in order to avoid technological obsolescence, platforms can only survive by becoming reflexive institutions, i.e. by closely adjusting the evolution of their constitutive equipment to the evolution of research questions. This latter remark brings us to a somewhat different understanding of platforms, one that closely associates their material and institutional dimensions with an epistemic one, linking governance issues to the content of the activities performed on/by a platform and the entities they (re)produce. Two of us have previously described biomedical platforms as stabilised interconnections between new biomedical entities (e.g. genes and mutations, existing as both material and representational entities), the set of technologies (equipment, related reagents, etc.) necessary for their manipulation and representation, and the regulations (standards, nomenclatures, quality norms, etc.) that are constitutive of their proper use in clinical and laboratory settings, and in particular at the laboratory–clinical interface (Keating and Cambrosio 2003). Such an understanding of platforms emphasises two related processes. First, it draws into focus the ongoing alignment of clinical research with biological research and its constitutive (commercial) technologies. Alignment, however, does not mean reduction: interfacing the normal and the pathological is a twoway process that is far from simple and needs to be continuously readjusted (see, for instance, the debates about the proper way of performing ‘translational research’, in Baumann et al. 2001). Second, and as a consequence, the use of, say, genomic platforms in laboratory and clinical research does not automatically entail their use in routine clinical practice; rather, articulation and regulation work is necessary to allow a platform to enter standard clinical use. Immunophenotyping (IPT), the example used to develop this notion of a platform, originated in immunological work but a similar analysis can be easily applied to genomic 504
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technologies such as gene chips and tumour signatures. In the case of IPT, the development of computerised equipment for rapidly analysing thousands of cells and thus to ascertain the presence and size of a given ‘cell population’ (a new entity), was linked to the development of new reagents (monoclonal antibodies) for detecting ‘surface markers’ (again, a new biomedical entity). Different kinds of regulatory work were used to establish, for instance, a nomenclature of markers and thus equivalencies between the reagents produced by hundreds of different laboratories, to establish the comparability of readings generated by different commercial brands of IPT equipment, but also, most importantly, to re-describe existing nosological entities (e.g. different types of leukaemia) in terms of the new markers and, subsequently, to create new disease categories that could be tested in clinical trials and shape clinical practices. In turn, these processes redefined the meanings and usages of the new platform. This was not always a seamless process: the need to hierarchically align the new platform with pre-existing platforms and forms of work can and did generate controversy about, for instance, which platform should be considered ‘the gold standard’ or about the relative merits of clinical vs. biological diagnostic criteria. The definition of a biomedical platform as a specific configuration of tools, entities, techniques, know-how and therapeutic indications that underlie the articulation of laboratory, clinical and commercial activities in a given domain, highlights the role played by regulation in the emergence and stabilisation of a platform. Regulation, in this context, refers not only to the activities of dedicated state agencies, but also to those of various types of national and international networks and consortia, ranging from informal arrangements to more official initiatives. To those interested in exploring the emergence and dynamics of a given platform, regulation thus offers a very useful entry point, right in the middle of the game, so to speak, from which one can then move up and down along the regulatory continuum, from matters of equipment to clinical indications. Section 3 of this chapter will explore in greater detail the issue of the bio-clinical regulation of a key genomic platform, gene chips.
2 Socio-economic hybrids As our remarks so far should have made clear, the notion of a platform, in all its different instantiations, is intimately linked to the notion of hybrid formations. Here again, the secondary literature points to different ways of conceiving this ‘hybrid’ dimension. In line with an ‘economy of innovation’ understanding of platforms, the latter are understood as hybrids between university and industry or public and private organisations. In the previously mentioned analysis of French life sciences platforms by Aggeri et al. (2007), these institutions are hybrid because they have been designed (top-down) with the explicit goal of linking academic research and commercial innovation. In this sense, life science platforms and hybrid formations refer to the issue of biotechnology start-ups and spin-offs that will be discussed below. One should not hastily conclude, however, that the issue involved here is simply one of interfacing well-defined, self-contained organisations, each pursuing different (commercial or academic) goals. Rather, dichotomies such as public/private or for profit/not for profit barely capture a situation that is defined by a spectrum of activities with fuzzy, overlapping borders. Echoes of this situation can be easily found in legal-scientific confrontations such as the one opposing deCODE, a genomics company, and its former 505
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employees who had moved to a newly established Center for Applied Genomics at the Children’s Hospital of Philadelphia (CHOP). The legal issue centred on non-compete clauses and confidentiality agreements that, according to deCODE, should have prevented CHOP’s new genomic centre from duplicating the company’s work of collecting genetic data on patients. Commenting on the case, deCODE’s CEO observed that ‘there is a “fine line” between academic work and the mission of commercial firms’ adding that, in his view, CHOP was ‘intent on crossing the line’ (Warner 2006). The line is indeed ‘fine’ and the legal arrangements surrounding its definition are ‘co-produced’ simultaneously with the technology they regulate (see Barry 2001; Jasanoff 2004). A less anecdotal illustration of this point can be found in McMeekin et al.’s analysis of the rise of bioinformatics and, in particular, their case study of the relations between the European Bioinformatics Institute (EBI) and a spin-off company called LION Bioscience (McMeekin and Harvey 2002; McMeekin et al. 2004). Emerging from a public research organisation, LION was able to develop and sell products originally designed by EBI while maintaining access rights to academic researchers. Innovative arrangements allowed for a flow of knowledge and skills that established complex, evolving interdependencies along a public–private gradient with, for instance, portions of computer code obeying different property regimes. Essential bioinformatic tools such as databases and algorithms were thus not confined within a specific scientific, institutional or economic sphere, but, rather, distributed across the increasingly blurred boundaries of different organisations and disciplines. This ‘fluidity of organisational and knowledge boundaries’, moreover, did not apply only to the ‘internal’ division of labour within LION or between EBI and LION, but extended to the changing organisational configuration of the life science industries around LION, modifying its agents (including large pharmaceutical companies), creating, redefining and renegotiating classes within innovation processes: in short, initiating the development of new interactions, dependencies and arrangements. Many aspects of this ‘economy of knowledge’ approach, in particular its focus on the reshaping of the interdependencies that characterise the entire field of the life sciences, are broadly consistent with Callon’s analysis of emergent techno-economic networks. The latter, however, is more radical in its rejection of the analytical primacy of the public–private distinction (Callon 1994).6 Public science is made possible by investments and interventions of unsuspected breadth and width. Local science is always private, in the sense that it does not circulate and it thus remains in private hands. Local networks must be transformed into or linked to extended networks to create the conditions of private appropriation. If such appropriation is to appear financially worthwhile, the objects being privatised must be able to circulate widely. In other words, a lot of work is needed to make science public; (almost) no work is needed to keep it private. The most recent extension of this argument introduces a distinction between emergent and consolidated configurations: emergent configurations are characterised inter alia by the production of rival and exclusive knowledge claims,7 their activities lead to a constant reconfiguration of the social and natural entities they mobilise, and the definition of the states of the world in which they operate (and thus also of research programmes) is available only ex-post. Consolidated configurations, on the other hand, produce forms of knowledge that, in the networks in which they circulate, are non-rival and non-exclusive; their activities are predicated upon the existence of a stable list of social and natural entities with a welldefined identity and their understanding of all states of the world is available ex-ante, providing a framework for coordinated research programmes (Callon 2002). As part of 506
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the dynamic interaction of these two sectors, firms integrate elements of emergent configurations, thus leading to the constitution of ‘hybrid environments’ between laboratories and firms, or even to the emergence of ‘boundary organisations’ that combine elements from both laboratories and firms. While McMeekin et al.’s discussion of socio-economic hybrids focused on a firm and its environment, other points of entry are also available. For instance, one can concentrate on a tool, such as the previously mentioned microarrays and, in particular, on the regulatory arrangements that have turned microarrays into a viable, working technology (Rogers and Cambrosio 2007). Compared to previous molecular genetic approaches, a microarray experiment involves the simultaneous analysis of many hundreds or thousands of genes as opposed to single genes, thus making them a key tool of the post-genomic era. The number of microarray publications and patents has increased exponentially during the last decade and, as we will discuss in Section 3, microarray tests are making their way into the clinic. Yet, starting in the mid-1990s scientific journals were overrun with criticism concerning the ambiguities involved in interpreting most of the assumptions of a microarray experiment: How was anyone to know whether the different platforms being used were comparable, or even how they were implemented? How were statistics calculated? How could anyone assure that the many uncertainties within each experiment were producing reliable results? These concerns did not dampen enthusiasm for potential microarray applications, but instead, incited supporters of the new technology to realise the need for standard-building initiatives in order to solve the problem of comparability. A group of bioinformatics specialists at the previously mentioned EBI joined forces with the dominant players in microarray experimentation, a commercial start-up, Affymetrix, and an academic team at Stanford University that had refused to take a commercial turn, to establish a self-styled grassroots movement named the Microarray Gene Data Expression Society (MGED), with the aim of standardising the field. Thus, from the very outset, MGED was a ‘hybrid’ organisation, as it included industrial and university members. Moreover, EBI, while officially a public institution, was itself a ‘hybrid’ organisation, in the previously discussed sense that its operations were predicated upon the existence of knowledge flows between interdependent public/private databases. MGED was officially established in 1999 and by 2001 a first set of standards – dubbed MIAME for ‘Minimum Information About a Microarray Experiment’ – became available. By 2002 they were being enforced by a number of key scientific journals such as Nature, Cell and The Lancet. MIAME and subsequent standards issued by MGED, however, only tackle part of the problem, leaving out the potentially more thorny issues of data generation and validity. Thus, more recently, the FDA sponsored a MicroArray Quality Control (MAQC) project in order to examine the contentious issue of interplatform reproducibility of microarray experiments. The project was part of the FDA’s Critical Path Initiative intended to ‘unclog’ the innovation pipeline through regulatory re-structuring that included joining forces with established academic and industrial research facilities. The MAQC project was carried out by a consortium of research and industrial organisations – 137 participants from 51 organisations – who were asked to compare seven different microarray platforms, namely six commercially available platforms and one generated by the National Cancer Institute. In short, all these initiatives converge insofar as they highlight the collective nature of genomic practices and the intertwined nature – public and commercial – of the distributed collectives that carry on these practices. As a result, the development of genomic platforms and hybrids cannot be 507
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explained without taking into account the role of industrial actors, in particular start-ups and spin-offs,4 since the latter perform vital research tasks, produce knowledge and technologies, participate in the creation of networks, all this by mobilising both public and private resources. The rest of this section will survey the peculiar nature and role of biotechnology spin-offs. By the 1980s, R&D economists such as Acs and Audretsch (1987; 1988) had already realised that ‘the most innovative industries [tend] to be those in which small firms [are] particularly innovative’ (Landström 2005: 223), and that innovation processes take place in a ‘dynamic’ environment that also includes large firms (Rothwell 1989).8 At that time, however, the chief example of an innovative sector was the computer and software industry, with the pharmaceutical industry being explicitly mentioned as an exception; 20 years later, biotechnology and, in particular, genomics and the interfacing of computer science with genetics have drastically changed the situation. In 2005, more than 4,000 dedicated biotechnology companies were active worldwide, many of which were university spin-offs (Ernst and Young 2006). In other words, this novel industrial sector is grounded in the results of academic research and a profound transformation of the relations between public research and industry. R&D economists distinguish between ‘traditional’ commercial relations in the field such as research contracts, collaborations, consulting and training, and ‘technology transfer’ relations such as ‘licensing’ and ‘spin-offs’. The creation of ‘spin-offs’ has undergone substantial growth in recent years. According to the Association of University Technology Managers, while US universities in the 1980s created fewer than 100 startups per year, they spun out 5,171 start-ups between 1980 and 2007, 628 in 2005 alone: ‘[t]hat is 1.7 new companies every day of the year. Each is based on what is hoped to be a platform of academic technology that will address market needs through the application of invested money by well-paid employees’ (AUTM 2007: 5). Similar increases occurred in Belgium, France, Germany, Sweden and the UK (Wright et al. 2007; Mustar et al. 2006). Such an unprecedented growth has often been related to the institutional, organisational and legal reforms undertaken by most scientifically advanced countries, that include, in the US, the 1980 Bayh–Dole Act allowing universities to patent and license the results of federally funded research, and, in France, the 1999 Law on Research and Innovation. As convincingly argued by Mowery, this unprecedented growth took place in particular in the biomedical sector and can be accounted for by the growth in the federal funding of biomedical research and overall changes in biotechnology intellectual property rights promoted by the US government, rather than on individual factors such as the Bayh–Dole Act (2006). University spin-offs are concentrated in a few high technology sectors, the most common being biotechnology: 31 per cent of all the spin-offs founded at MIT between 1980 and 1996 were biotechnology companies (Shane 2004: 139), 68 per cent of the new ventures at the University of Wisconsin during the 1990s were life sciences firms (Sobocinski 1999), at the University of California two-thirds of the inventor-founded spin-offs were biotechnology, pharmaceutical or medical device firms (Lowe 2002), half of Columbia University’s spin-off companies and most of the New York University’s spin-offs are in the biomedical area (Golub 2003).9 Similar patterns have been observed in Europe (Mustar 1997; Clarysse et al. 2007; Filliatreau 2006). As compared to other domains, the biotechnology sector appears to be characterised by a strong dependence on recent and ongoing scientific developments, a relatively long delay in the commercialisation of results, and, finally, by the presence of a strong system of intellectual property. 508
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Concerning the first point, while at the turn of the century US universities accounted for 3.6 per cent of all domestic-assignee patents, they accounted for as much as 11 per cent of biotechnology patents (Mowery 2006). The majority of new US companies have originated from an institution with an affiliated medical school (AUTM 2007). Similarly, in France, while public research organisations accounted for 7 per cent of patents, this percentage reached 20 per cent in the pharmaceutical–biotechnology sector (Filliatreau 2006). These indicators show the extent of the interdependencies that characterise the biomedical sector. Concerning the second point, it is well known that, as compared with, say, the communication sector, the commercialisation of biomedical results is a time-consuming process because of requirements such as clinical trials that can take up to ten years to complete. This creates a peculiar situation whereby spin-offs have to juggle with the different temporalities of short-term financing cycles and long-term development procedures. Patents are a major tool for managing the gap between short- and long-term processes: biotechnology results are in general easier to patent and the resulting patents are more robust than in other sectors. As a result, patents and licenses are an important part of a company’s initial assets, and academic scientists with highly visible profiles are often listed as co-founders of biotechnology firms. These firms continue to entertain close links with academic institutions long after their creation, by collaborating with public laboratories either via joint research projects or subcontracts, by hiring university researchers as consultants, by training and hiring doctoral students or by co-signing research articles and conference papers with university-based researchers (Mustar 1997; Mustar 1998). Biotechnology spin-offs are thus prime examples of hybrids between academic research and commercial innovation. One can even characterise the relation between biotechnology firms and academic research as one of ‘dependence’, by pointing to the fact that the geographical distribution of these firms matches the geographical distribution of academic ‘star’ life scientists (Zucker et al. 1999) and by showing that biotechnology companies with university linkages have lower R&D expenses and higher levels of innovative output (George et al. 2002). While entertaining close, substantive links with academic research, a majority of spin-offs, in particular those involved in genomics, have established partnerships with large pharmaceutical companies, since they lack the necessary ‘complementary assets’ (Teece 1986), i.e. skills and resources that will allow them to turn their innovations into marketable goods, for instance by complying with regulatory requirements, including clinical trials (see Arora and Gambardella 1994; Rothaermel 2001; Rothaermel and Deeds 2004). Some spin-offs, while maintaining partnerships with large companies, simultaneously develop their own products. In short, spin-offs appear to be a necessary component of the biotechnology domain, but they can only flourish as part of a network of alliances that include both academic institutions and large pharmaceutical companies. As such, far from simply playing a passive brokerage role between academic and commercial applications, they are active mediators – like academic laboratories, they pursue fundamental research, and like large companies they produce innovations – and by so doing they modify (‘translate’) the goals of these various actors whose ‘public’ or ‘private’ identity can no longer be clearly defined. A similar conclusion can be reached by looking at the financial aspects of spin-off companies. The role played in this respect by venture capital has attracted much attention, but public sources of funds are far more common than venture capital.10 Venture capital was present in less than 20 per cent of the firms surveyed by the Association of University Technology Managers and this proportion is declining. This is not surprising given the fact that the ‘value’ of many biotechnology projects is closely linked to the 509
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personal participation of the scientists who are at their origin, that these projects are marred by many uncertainties and that the technical complexities of the domain make project assessment a difficult task (Casamatta 2003). And yet, as shown by the paradigmatic example of Genentech co-founded in 1976 by scientist Herbert Boyer and venture capitalist Robert A. Swanson, one of the originalities of biotechnology start-ups is to be found precisely in the seamless interface they establish between the worlds of science and finance. Without early stage financing from venture capital, the biotechnology industry could hardly have blossomed, for venture capital did not merely provide much needed cash for R&D and costly equipment, but also access to the necessary skills, networks and international contacts: firms with venture capital support perform better than firms without such support (Gompers and Lerner 1999). But even in the case of venturecapital backed firms, public funds play an important role. Since most venture capital firms are not prepared to finance the early phases of university spin-offs and prefer to become involved after the ‘proof of concept’ has been established, government authorities in many countries have set up a large number of pre-seed and seed capital funds within public research institutions (Wright et al. 2003), in addition to deploying a variety of other interventions ranging from changes in the intellectual property legislation to changes in the status of researchers, the professionalisation of Technology Transfer Offices and the establishment of ‘incubators’, as well as initiatives such as ‘roadmaps’ to accelerate biomedical innovation. All these elements point to the collective, in addition to hybrid, dimension of biomedical innovation: a large number of actors – academic laboratories, university technology transfer offices, the initial clients, public support agencies, partner firms, financial companies, regulatory agencies, and so on – partake in these processes. Nor are the actors exclusively human: as we will see in the next section, a growing menagerie of hybrid, non-human entities plays a major role in the development of the life sciences.
3 Bio-clinical hybrids If we now switch to an alternative, albeit (at least in principle) complementary, understanding of platforms, one that, as previously discussed, takes into account the nature of the entities produced on/by these platforms, we are immediately confronted with another kind of hybrid, namely biological–medical (or normal–pathological) hybrids. The biological and pathological tools and experimental systems that are constitutive of the late twentieth-century biomedical space tend to deploy both normal and pathological entities interchangeably to the point where, more often than not, they largely overlap. In other words, recent decades have witnessed a convergence in the methods used to intervene in these processes and in the entities held to be the principal actors both in health and disease. Moreover, given the interchange of actors and methods, the biological or clinical relevance of deploying an experimental system in biology or pathology cannot be known in advance. A clinical trial tracking a biological, prognostic variable, for example, is equally likely to say something about the biology of human beings as about the pathology of the disease being studied. Bio-clinical hybrids are pervasive in clinical research, as they cover the range from institutional arrangements (e.g. the recent trend to fuse biology departments and medical schools into ‘life sciences’ faculties, or the establishment of ‘translational research’ units) to the use of human/animal model organisms in research. Human/animal hybrids are less 510
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a bridge from the animal world to the human domain than an entirely new field of play with its own norms and protocols (Keating and Cambrosio 2006). For instance, in the 1970s and 1980s researchers at the US National Cancer Institute developed a hybrid mouse/human experimental system designed to test drugs. The system consisted of mice without immune systems that, unable to reject foreign growths, allowed researchers to engraft human cancers under their skins and thus to test substances on human tumour cells in the context of an entire organism. Much discussion and research took place to test the suitability and value of these model organisms. The ability to manipulate genes and track their protein products subsequently drove human–animal comparisons to the genomic level. Initially restricted to the formation of single cell hybrids, molecular biology has developed the tools to fabricate complete hybrid organisms. In the early 1980s, five laboratories announced their ability to inject stretches of mammalian and viral DNA into mouse eggs and produce mice expressing the proteins corresponding to the injected DNA (Paigen 2003: 1228). What can be added in can also be removed and shortly thereafter the field of molecular biology was inundated with knock-out mice whose exact genetic meaning took almost a decade to unravel (Morange 2001). The production of hybrid mice bearing disease genes took almost another decade. The latest hybrids implicate large genomic data banks and the corresponding model organisms. Experimental studies in silico combine the virtual and the real (or at least the modelled real) in computerised searches for theoretical strings, pathways and correspondences among data banks of results from in vitro and in vivo research. Hybrid animal models are used to study human diseases or test therapies, but the results derived from the use of these models are far from simple and reveal instead layers of complexity that previous analyses had hidden from view. For instance, when David Baltimore’s lab announced in 1990 that they had succeeded in producing the first animal bearing a human disease gene and expressing something like that human disease (chronic myelogenous leukaemia, CML), they had to acknowledge that the ‘syndrome’ exhibited by the mice lacked the pathological specificity characterising the human disease and did not include the long latent period required for human CML patients to develop clinical symptoms.11 Subsequent attempts to produce hybrid, transgenic models of CML met with a host of similar problems and limitations, leading to diseases that did not approximate human pathogenic processes. This did not prevent researchers from considering these models as useful tools for studying the human disease, insofar as the modelling– modelled relation can operate in both directions. Indeed, pathological processes first uncovered in an animal sometimes prompt a search for similar phenomena in humans. Moreover, because animals allow for interventions not possible in humans, the description of the pathogenic process in the animal is sometimes considered more faithful to the disease than what has been observed heretofore in humans. In the case of cancer, for example, since there are presently few untreated cancer patients, natural histories of human cancer have been more or less completely transformed into treated histories. The result has been to shift the burden of natural history from the object to be modelled to the organism model (e.g. transgenic mice) itself. One can thus speak of disease descriptions as being distributed amongst humans and animals, and, in this important sense, animal–human hybrids can reach outside the confines of the laboratories. Biomedical activities are increasingly structured by the presence of hybrid, bio-clinical collectives (Bourret 2005). Within these collectives, a heterogeneous set of actors interact in a number of different ways by establishing flexible collaborative arrangements at the national and international level. These interactions give rise to novel practices, 511
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engendering and regulating the human (e.g. patients, various brands of physicians) and non-human (e.g. genes, mutations) entities mobilised by bio-clinical activities. In addition to local, multidisciplinary teams that increasingly question the division of labour between clinicians and biologists, recent years have seen the development of other kinds of collectives. Data collectives make clinical domains based on the assessment of risk factors, such as predictive cancer genetics, possible in the first place by producing and circulating statistical and epidemiological data based upon large population studies and meta-analyses. In domains where genetics meets clinical practice and that are self-characterised by the presence of incomplete knowledge and a high level of uncertainty, we witness the emergence of a new type of bio-clinical collective that is not concerned solely with the interfacing of skills or the construction of data and tools. Rather, their interventions target the production of medical judgement and medical decision-making, by organising the discussion of clinical cases and producing informal rules and conventions as well as formal practice guidelines to support decision-making activities, thus directly affecting the nature and content of clinical work (Bourret 2005; Rabeharisoa and Bourret 2008). In the case of BRCA breast cancer susceptibility testing, for example, medical activities are centred on complex entities such as risks, hereditary syndromes, susceptibility genes, and mutations that, in contrast to the more entrenched categories that are used to manage sporadic cancers of the general population, are still unstable, fluctuating and likely to be redefined as new investigations disclose additional aspects of hereditary cancer processes at both the molecular and clinical levels. As a result, practitioners must regularly revise the elements (such as epidemiological and molecular data, and risk estimates) in which they ground their clinical decisions. Clinical work in this field, in other words, is coterminous with an ongoing process of re-specification of the evidence that underlies it. This kind of work is not performed by individual clinicians but, rather, by the kind of collectives we just mentioned, including, in the French case, a national collaborative group whose work is articulated with the activities of international consortia. The tasks performed by the national bio-clinical collective include collecting and collating an heterogeneous set of elements that have been elaborated within the framework of epidemiological studies, molecular biology research, mutation research protocols, clinical examinations, and so on. In particular, the national collective establishes and revises the conventional arrangements that underlie clinical interventions, such as the risk thresholds above which a particular course of action (search for a family mutation, increased surveillance, mastectomy … ) is warranted. They also establish criteria to be used when dealing with contradictory evidence, such as when a molecular test is negative although the medical pedigree indicates the presence of a family mutation, or with unusual findings, such as when mutations are found whose bio-clinical meaning has not been previously ascertained. In these situations the technical and moral authority to make a decision is shifted from the individual clinician to the bio-clinical collective. A good example of the complexities introduced by the emergence of genomic hybrid formations is provided by recent debates surrounding the regulation of new genomic tests by the US Food and Drug Administration (FDA). In recent years the FDA has become increasingly worried about the clinical use, in fields such as oncology, of tools that many still regard as experimental, namely gene chips (microarrays) for gene expression profiling. Tumour ‘signatures’, corresponding to the activation profile of a certain number of genes, in addition to their diagnostic utility in determining sub-classes of tumours, can be used as prognostic tools to determine whether a tumour will recur and to predict a patient’s response to therapy: in short, they have been hailed as a step 512
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towards the new kind of ‘personalised medicine’ that lies in our future. Research in the field of microarrays and gene expression profiling is booming but, at the time of this writing, only a few genomic signatures have been made commercially available for clinical use: they include MammaPrint®, a 70-gene breast cancer signature developed by Agendia, a Dutch company co-founded by two researchers of the Netherlands Cancer Institute/Antoni van Leeuwenhoek Hospital, and Oncotype DXTM, a 21-gene breast cancer signature developed by Genomic Health in the US. By predicting a breast cancer’s risk of recurrence in relation to patient populations as defined by criteria such as age, lymph-node status, etc., they can help physicians to define a therapeutic strategy. For instance, standard protocols dictate the use of adjuvant chemotherapy, but while this indication should be maintained for patients with a high-risk of recurrence, adjuvant treatments could be dispensed with in the case of low-risk patients, given both the serious side-effects of chemotherapy and the fact that the efficacy of these treatments has not been demonstrated for this category of patients. Two ongoing large-scale clinical trials (a European-wide trial, MINDACT, for MammaPrint®, and a US trial TAILORx, for Oncotype DXTM)12 are presently testing the predictive value of these two tools with respect to response to therapy, but clinicians and patients who want to assess the risk of recurrence can already access them.13 MammaPrint® was cleared for marketing by the FDA in February 2007: it is the first microarray test to be reviewed by this agency and the FDA has carried out the clearance in record time: as pointed out by an obviously proud Director of the Office of Science and Engineering Laboratories at the FDA, the test ‘was very efficiently reviewed by FDA in that the total time of FDA’s portion of the review actually took a total of less than 30 days, including classification’.14 In so doing, the FDA was entering new ground insofar as the agency considered that a test such as MammaPrint® belonged to an entirely new category of in vitro tests called In Vitro Diagnostic Multivariate Index Assays (IVDMIAs). A few days after clearing MammaPrint®, the FDA organised a public meeting to discuss a Draft Guidance issued in September 2006 to regulate this new kind of tests.15 The Guidance was part of an FDA effort to come to terms with the blossoming new domain of pharmacogenomics, that included issuing a March 2005 guidance for pharmacogenomic data submissions and a May 2007 guidance for gene expression profiling test systems for breast cancer.16 These activities signalled a change of attitude, since until then the FDA had chosen not to regulate tests performed by a single laboratory – so-called laboratorydeveloped or ‘in house’ tests – based on the premise that these tests are better conceived of as laboratory services rather than commercial products such as in vitro diagnostic kits sold by medical device manufacturers. As part of its mission to control the safety and efficacy of drugs and medical devices, the FDA had confined itself to regulating the commercially available, standard primary ingredients – the analyte specific reagents (ASRs) – used by in-house tests, rather than the tests themselves.17 As pointed out, however, by Dr Harper, from the Office of In Vitro Diagnostic Device Evaluation and Safety, in his introductory comments to the public meeting on the draft guidance for IVDMIAs, [w]e have noticed a growing category of tests that include elements that are not standard primary ingredients of laboratory developed tests, and we believe that these differences, such as complex, statistically driven data derived algorithms actually raise new safety and efficacy concerns. (p. 6) 513
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The production of an IVDMIA test, in other words, cannot be reduced to a specific combination of ASRs as it is the case for most in vitro tests: in addition to these components, the new category of tests embodies clinical data combined with an algorithm and/ or a software program that calculates an individual score for each patient. As a result, the production of an IVDMIA test ‘involves steps … that are not within the ordinary “expertise and ability”’ (p. 2) of laboratories working in the area of classical laboratory tests. Thus, clinical laboratories that perform this type of test should be considered as ‘manufacturers of medical devices’ even if the tests are developed by and performed in a single laboratory (p. 5). A guidance issued in September 2007 confirmed and elaborated this point by stating that certain combinations of ASR-based products – such as ASRs promoted for use with a specific analytical or clinical claim – might be considered test kits and thus fall under FDA regulation.18 The FDA, in other words, by acknowledging the emergence and rapid development of new biological and clinical tests focusing on multiple genetic variants is simultaneously acknowledging that these tests play havoc with the classificatory principles that underlie its regulations. In particular, ‘circulation’ criteria – i.e. whether a test remains confined within a laboratory or circulates in the external, commercial sphere as a kit – is no longer deemed relevant for genomic tests. The peculiar nature of these tests requires a new regulatory category. But what, exactly, is the nature of these tests? Traditionally, the FDA would have answered this question by providing a definition of IVDMIA. This time, however, defining the new tests proved to be anything but straightforward. While the September 2006 draft guidance opens by stating that the document ‘addresses the definition and regulatory status of a class of In Vitro Diagnostic Devices’ (p. 1), the definition it proposes is not so much a stable, final definition as a tentative one or, rather, a starting point for discussion. For instance, at the February 2007 public meeting, Dr Harper gave the following instruction: ‘When commenting on the guidance, please provide suggestions to help FDA clarify the IVDMIA definition to minimise confusion.’ And indeed, the tentative definition introduced by the FDA: IVDMIAs are test systems that employ data, derived in part from one or more in vitro assays, and an algorithm that usually, but not necessarily, runs on software to generate a result that diagnoses a disease or condition or is used in the cure, mitigation, treatment, or prevention of disease. (p. 3) became the object of much discussion and criticism. The definition emphasises the peculiar nature of the results generated by the test through the use of an algorithm that generates a patient-specific score or index. These results cannot be confirmed by another laboratory without access to the proprietary algorithm; moreover, they ‘cannot be interpreted by the well-trained health care practitioner using prior knowledge of medicine without information from the test developer regarding its clinical performance and effectiveness’. In other words, the knowledge and skills necessary for a proper interpretation of test results are distributed among different actors who inhabit different spaces: biologists, bioinformatics specialists, the laboratories and companies producing the tests and the clinicians using them. Not only does the complex multivariate analysis lie beyond the skills of the ‘well-trained’ clinician, but the results already convey their own clinical interpretation insofar as they consist of a score or index that automatically assigns the patient to a specific clinical category: ‘good/bad signature’, ‘good/bad prognosis’, 514
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‘low/high recurrence risk’, etc. The clinician will use this information to fine-tune therapy, thus exercising his/her clinical autonomy, but the result provided by the test is not a ‘mere’ biological result whose clinical meaning can only be obtained by triangulating it with the outcome of clinical examinations: the clinical interpretation is already built into the IVDMIAs that therefore qualify as bio-clinical hybrids. In the second draft guidance, the bio-clinical nature of IVDMIAs appears as one of their major defining characteristics: While the input variables, alone or in combination, might have meaning to the clinician, the clinician could not verify the clinical significance of the IVDMIA result on his or her own. In addition, the ordering physician cannot reach the IVDMIA result on his or her own, nor could he or she independently interpret that result. The ordering clinician requires information from the test developer, rather than generally accepted information from the clinical community, in order to interpret the IVDMIA result for use in the management of the patient. For an IVDMIA, it is the single patient-specific result that is associated with the intended use of the device. The IVDMIA device includes all elements necessary for obtaining the result. (p. 5, our emphasis) The new genomic tests are hybrid tools: simultaneously commercial products and clinical service, laboratory tests and medical devices, biological results and clinical indications. They are enacted within hybrid spaces where the boundaries between clinical and research laboratories, medical device manufacturers and hospital settings have become porous. A sense of the heterogeneity of these hybrid spaces is provided by the variety of ‘stakeholders’ who took part in the discussions concerning the draft guidance: representatives of commercial laboratories and of laboratory associations, clinicians, medical societies, patient activists, legal experts, NCI officials, etc. Unsurprisingly, in addition to the expected criticism that the new regulation would increase the regulatory burden and stifle innovation, several speakers insisted on the ambiguous nature of the novel regulatory category introduced by the FDA: pointing to the difficulty of determining which pharmacogenomic tests should fall under the IVDMIA category and questioning the relevance of certain elements of the definition (e.g. the presence of an algorithm) as distinctive criteria, critics complained that a host of unresolved questions would be generated ‘as a result of blurring the line between medical device and laboratory service’. Rather than going into further detail, we would like to end this example by emphasising two related methodological elements. First, by focusing on the regulatory activities (not necessarily by state agencies, although this is the case in the present example) we are in a better position to ‘open the black-box’ of the bio-clinical reconfiguration of medical practices that has been occasioned by the development of genomic practices and that in turn has shaped them. Second, we should pay homage to the remarkable sociological skills deployed by organisations such as the FDA as part of their regulatory activity: once again, the ‘endogenous critical inquiry’ (Lynch 1982) displayed by actors proves to be one of science studies’ best allies. A focus on regulation is not to be justified solely in methodological terms. Regulation is key to the operation of platforms. By redefining the clinical–laboratory interface or, more precisely, by further increasing the complexity of the bio-medical space that has emerged since World War II, genomics is simultaneously redefining central aspects of 515
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medical objectivity, a process some of us have tried to capture under the heading of ‘regulatory objectivity’(Cambrosio et al. 2006). Historians and social scientists have recently insisted on the historical character of objectivity through the various meanings, practices and devices that have been attached to it during different historical periods, and in particular on historically situated processes of measurement, representation and other tools of consensus formation (see Daston and Galison 1995; Berg et al. 2000; Porter 1995). Similarly, the role of regulation within medicine has been analysed from several points of view, although in this literature, explanations highlighting the motives of power, the desire for monopoly and/or financial or economic considerations tend to predominate (Daemmrich 2004; Weisz 2006; Abraham 1995). Only occasionally do scholars fully recognise the interweaving of processes of objectification and regulatory activities. Yet, the two practices are intimately linked and mutually constitutive. Regulation, both formal and informal, targets things as well as persons and thus is often coterminous with the various forms and processes of objectification. Similarly, objectification has recourse to a variety of rules, conventions and norms that can be described under the heading of regulation. There are numerous complex reasons for what many perceive as the slow translation of genomic tools into clinical tools, but one of the principal reasons is that, as discussed in this chapter, the use of genomic tools is predicated on the rearrangement of the relations between laboratory and clinical settings that results in the emergence of new collective configurations of biomedical practices. The interfacing and coordination of these practices has generated the need for additional layers of regulation ensuring not only the availability of standard laboratory substances, methods and quality assessment schemes, but also methods for correlating traditional systems of evidence, such as clinical signs or established laboratory tests, with the newer systems of evidence such as genomic signatures or family mutations. While these alignments of the old and the new are particularly prominent in clinical research settings, they increasingly permeate clinical routines.
4 Conclusion: articulating socio-economic and bio-clinical hybrids In this chapter we have examined different ways in which analysts of contemporary biomedicine have confronted platforms and hybrid formations. Our analysis shows all the symptoms of a split personality disorder, by alternating between contributions from apparently irreconcilable approaches, namely the socio-economics of innovation and the sociology of biomedical practices. And yet, we are convinced that a better understanding of the dynamics of biomedical innovations in the complex field of genomics can only be achieved by collating insights from these two approaches. Such a synthesis will enable us to follow the development and circulation of innovations between laboratories, clinical settings and biotechnology companies. Choices made in academic laboratories often figure significantly in the definition of new biomedical platforms that shape novel clinical approaches in the life sciences. Key-users and lead-users play a central role in the development and formatting of products, for instance by establishing conventions, standards and other forms of regulation that make possible the routine use of a given technology. In the field of genomics, regulation often operates via the establishment of hybrid networks and bottom-up organisations. The survival of firms that commercialise the technology is predicated upon the evolution of research practices in academic settings. In 516
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short, linear or even interactive models of innovation that are predicated upon the possibility of clearly distinguishing between research and innovation processes, and between clinical, biological and commercial domains, are largely inadequate to account for the present situation. They should be replaced by a ‘distributed’ understanding of life science innovation processes, one that includes the observation that ‘actors become embedded in these [distributed] knowledge structures that then act as platforms for their departure’ (Garud and Karnoe 2003).
Notes 1 http://en.wikipedia.org/wiki/Molecular_Biology_Core_Facilities_%28MBCF%29 (last accessed November 2007). 2 www.ibisa.net/charte.php (last accessed November 2007); our translation. In 2007, following a call for a quality assessment, 85 platforms were listed as ‘operational’ and 18 as ‘emerging’: see www. inserm.fr/fr/outils_recherche/plateforme_rio/evaluation_rio.html (last accessed November 2007). 3 www.pasteur.fr/recherche/genopole/ (last accessed November 2007). The bioinformatics platforms of the ‘genopoles’ and other inter-agency organisms are associated within a national network: see www.renabi.fr/ (last accessed November 2007). 4 Concerning the distinction between start-ups and spin-offs, Wright et al. point out that university spin-offs are most often defined as ‘a new venture that is dependent upon licensing or assignment of an institution’s intellectual property (IP) for initiation’ but that such a definition is too narrow because ‘many companies are created that do not build upon formal, codified knowledge embodied in patents’. These authors have therefore extended the definition to ‘include start-ups by faculty based in universities which do not involve formal assignment of the institution’s IP but which may draw on the individual’s own IP or knowledge’; they, however, ‘exclude companies that may be established by graduates after they have left the university and companies established by outsiders that may draw on IP created by universities’. See Wright et al. 2007: 5. These definitional issues are an eloquent example of the complex institutional interdependencies that characterize the life science sector. 5 A high-level European policy initiative, the European Technology Platforms, uses the term ‘platforms’ in a highly metaphorical sense, namely as arrangements that ‘bring together stakeholders, led by industry, to define medium to long-term research and technological development objectives and lay down markers for achieving them’; see, e.g., European Commission 2004. 6 For an application of this argument to the case of monoclonal antibodies, see Cambrosio and Keating 1998. 7 The economic notion of rivalry refers to goods (knowledge) that cannot be simultaneously used by different consumers; the notion of excludability to the possibility of appropriating goods and thus preventing their use by other potential users. 8 Dynamic, here, refers to the fact that the complementary role of small and large firms changes during industrial cycles; see Rothwell 1989. 9 For a case study of the creation of a California-based genomic company, see Zenios and Chess 2006. 10 On the US, see Auerswald and Branscomb 2003; for the UK see Wright et al. 2003. 11 For a discussion of the complexities introduced by genetic approaches to cystic fibrosis, see Hedgecoe 2003. 12 The evocative trial acronyms are derived from the following full names: ‘Microarray In Nodenegative Disease may Avoid ChemoTherapy’ and ‘Trial Assigning IndividuaLized Options for Treatment (Rx)’. For more information see the trial’s websites: www.eortc.be/services/unit/mindact/MINDACT_websiteii.asp and www.cancer.gov/clinicaltrials/digestpage/TAILORx 13 This is not the place to discuss the different modalities according to which patient from different countries can get access to genomic testing. For a detailed discussion of these differences in the case of BRCA testing, see Parthasarathy (2007). 14 FDA. Public Meeting: In Vitro Diagnostic Multivariate Index Assays (IVDMIA), 8 February 2007 (p. 10); www.fda.gov/cdrh/oivd/meetings/020807transcript.pdf – 02–28–2007
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15 Draft guidance for Industry, Clinical Laboratories, and FDA Staff: In Vitro Diagnostic Multivariate Index Assays. Rockville, MD: US Food and Drug Administration, Center for Devices and Radiological Health, Office of In Vitro Diagnostic Device Evaluation and Safety, 2006; www.fda.gov/ cdrh/oivd/guidance/1610.pdf 16 Guidance for Industry. Pharmacogenomic Data Submissions; Guidance for Industry and FDA Staff. Class II Special Controls Guidance Document: Gene Expression Profiling Test System for Breast Cancer Prognosis, 9 May 2007; www.fda.gov/cdrh/oivd/guidance/1627.pdf 17 Quality control is another matter: it is exercised via the Center for Medicare and Medicaid Services that regulates all laboratory testing performed on humans in approximately 189,000 US laboratories through the Clinical Laboratory Improvement Amendments (CLIA); see www.cms.hhs.gov/CLIA/. 18 Draft Guidance for Industry and FDA Staff. Commercially Distributed Analyte Specific Reagents (ASRs): Frequently Asked Questions. Rockville, MD: US Food and Drug Administration, Center for Devices and Radiological Health, Office of In Vitro Diagnostic Device Evaluation and Safety, 2007; www.fda.gov/cdrh/oivd/guidance/1590.pdf
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Abbot 147 abortion 61, 70, 80, 81, 358, 439, 441, 443 Abu El-Haj, Nadia 405 accountability: reproductive genetics 64; stakeholder representation 196–97; social, and knowledge Tproduction 486–501 ACPO 285, 286, 288, 289 Acs, Z. 508 activism: agri-biotechnology 114–16, 117, 118– 19, 121, 123–24; insurance 133; stakeholder representation(s) 185, 192, 193, 195 actor-networks 188, 196, 198 ADHD 10 advertising, visual representation 228–29 Affymetrix 507 African Americans 30 Agendia 513 Aggeri, F. 504, 505 Agrevo 117 agriculture, agri-biotechnology 5, 107, 108, 110–26, 172, 177, 227; animal biotechnology 387; national controversies about 115–19; stakeholder representation 192, 193, 196–97 Alexander, Brian 236 Allen, J.F. 482n1 Alzheimer’s disease 10, 25, 30, 133, 206, 248, 355 ambivalence, reproductive genetics 61, 62–72 AMD 167 American Eugenics Society 350 American Museum of Natural History, New York City 230–31 amniocentesis 60, 65, 442 Anderson, Benedict 310, 404–5, 408 Anderson, W. French 354 Angastiniotis, Michalis 89n6 animal biotechnology: bioethics 322–23, 382– 98; nature of 383–86 animal welfare 390–94, 395
Anker, Suzanne 11, 210, 237 Annas, G. 326 Answer (Antenatal Screening Web Resource) initiative 60 ANT 188, 196, 198 anthrometry 407 anthropocentrism 453, 454 anthropology 12, 60; collective identity 406; genetic diversity 424, 431; genetic testing and screening in Cyprus and Germany 76–93 Anti-Cancer Council of Victoria, Cancer Genetics Ethics Committee 332–34 Anti-Eugenic Network (Japan) 42 Applera 151, 152 table Applied Biosystems Inc. (ABI) 146 Aquinas, Thomas 389 Arabidopsis Information Resource 471, 473, 475, 479 Arabs, collective identity 408, 410–11, 413 Arends, Birgit 241 Argentina, terminator technologies 198n4 Aristotle 99, 230 Armstrong, D. 11 Arnason, A. 311 Arrow, K. 164 art: genes in 252–53; and representation 185, 224, 225, 227–43 arthrosclerosis 44 Artsactive 237 Arts Catalyst 237 Asch, A. 375–76 Ashburner, Michael 474, 475, 478 Asia: insurance 133, 136–37, 138; knowledge economy 108; see also individual countries assisted reproduction 18, 60–61, 203, 442, 491; regulation 268, 270; see also IVF Association of Biomolecular Resource Facilities (ABRF) 503
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Association of British Insurers (ABI) 135 Association of Police Authorities (ACPO) 285, 286, 288, 289 Association of Reproductive Health Professionals 355 Association of University Technology Managers (US) 508, 509 asthma 253, 254, 255–56 Astra 148 AstraZeneca 153, 167, 478 AT111 385 Atkinson, P. 10, 66 Atomic Force Microscope 224 Atwood, Margaret 241 audiences, media representation 214–15 Audretsch, D. 508 Austin, J.L. 248 Australia: biobanks 302, 316; bio-economy knowledge value chains 172; bioethics 322; eugenics 439; innovative genetic technologies 493, 495; insurance 133, 137, 139; privacy 324–48; terminator technologies 198n4; thalassaemia 78; visual representation 234 Australian Chamber of Commerce and Industry (ACCI) 340 Australian Law Reform Commission (ALRC) 324–44 Australian Medical Association 332 Australian Productivity Commission 487 Austria: agri-biotechnology 116, 129, 121; cystic fibrosis 89n11; forensic DNA database 285; insurance 135, 139; visual representation 235 autism 10, 29, 30 Autism Genetic Resource Exchange (AGRE) 34n8 autonomy 18; disability 377; diversity and justice 402; human dignity 455, 456; human genetic engineering 353, 358–59, 360; genetic testing 86; nutrigenomics 97–98; regulation 277–78; reproductive genetics 64–65, 70 Avon Longitudinal Study of Parents and Children (ALSPAC) 305 Bada, M. 475, 476 Bafoutsou, G. 483n18 Bailey, Shawn 235 Balaban, Evan 233–34 Balangee, Brandon 240–41 Baldwin, R. 273 Baltic states, eugenics 439 Baltimore, David 511 Ban Terminator international campaign 193 Barben, D. 111 Bard, J.B.L. 475 Barry, A. 490, 491 Bauman, Z. 63, 71 Bayer 165
522
Baylis, Françoise 355, 415n15, 453 Beck, S. 28 behavioural genetics 30, 31–32 Belgium: agriculture 114; biotechnology ‘spin-offs’ 508; insurance 135, 139 Bell Laboratories 165, 167 Belmont Report 374 Benatar, S.R. 276 benefit-sharing, biobanks 303, 307, 314–15, 316 Benford, R.D. 191, 197 Berlin-Brandenburg Academy of Sciences and Humanities 223 Best, M. 164 Beyleveld, D. 450, 455 Bharadwaj, A. 10, 492 Biesecker, Barbara 60 bioart 231–32; see also art biobanks 22, 191, 194, 209; ethics and bioethics 267, 305, 306–8, 310, 313, 314, 316, 322; forensic DNA databases 283–301; genetic diversity 423, 434n14; genomic resource facilities 506; human dignity and biotechnology policy 454–56; knowledge production 469, 472, 474, 475–82, 497; nutrigenomics 100–101; privacy 101, 307, 324; regulation 263, 264, 267, 302–18; terminology and definitions 303–5 biocapital 22, 23, 29, 465 biochemistry 2 biocitizenship 284 bio-clinical hybrids 502, 510–17 bio-cultural intimacy, genetic testing in Cyprus 77–78, 87, 88–89 biodiversity 314 bio-economy 4–6, 43, 107, 145–46, 158; knowledge value chains 107–8, 163–80; regulation 265 bioengineering 41 BioEssays 482n1 bioethical diversity 373–75 bioethics 18, 321–23; animal biotechnology 322–23, 382–98; biobanks 304; disability 367–81; eugenics 349–52, 442; human dignity 451; human genetic engineering 349–66; privacy 18, 322, 324–48; regulation 278–79, 280; visual representation 234–35; see also ethics bio-facts 229–30 bioinformatics 6, 471–73, 474, 476, 479, 482; hybrid formations 506, 507 biolabour 22, 23 biolegality 263, 283–301 biological citizenship 11, 23 biological piracy 209, 314 biological sciences: innovation 4, 6–13; knowledge production see knowledge production; and visual representation 222–46
INDEX
biomarkers see genetic markers biomedical biomedical identities 24 biomedicalisation 21–40 biomedical platforms and resources facilities 504–5, 508–17 biomedicine 1, 5, 6–13, 17–19, 227, 401, 402; databases see biobanks; disability 370, 372; see also genetic testing and screening; knowledge production; medicine; nutrigenomics; reproductive genetics; stem cell research bio-ontologies, bio-ontology consortia 469–85 BioPharm International magazine 243n2 biopolitical citizenship 24 biopolitical economy 22 biopolitics 23, 88, 185, 190, 284; see also politics biopower 23, 442 bioprinting 231, 232–34, 243 biosociality 7–8, 9, 23, 28, 185, 190, 193, 284, 292, 406, 465; genetic testing 87, 88–89 biotechnology 5, 6; biobanks 311–13, 314, 315; commercialisation 107, 108, 110, 172, 174–76, 177; expectations 190, 242; and pharmaceutical industry 145–62; policy and human dignity 448–61; representation 183; start-ups and spin-offs 505, 507–10; see also expectations Bioteknica 235–36 bio-value 5–6, 18, 491 bipolar disorder 10 Birch, Kean 7 Black, J. 270, 272, 273, 274, 280 Black Pad murders 287, 289, 290–91 Black Power 28 Blair, Tony 184, 290, 293, 423 blastocyst 209 blood, collective identity 407–12 body 1, 8, 11, 12; collective identity 407; electrification 8–9; ownership 231; regulation 264–65 Boland, Thomas 232 Bolnick, Deborah A. 31, 411, 413 Book, Patricia A. 79 “book of life” image 26, 191, 212, 214, 253 Borry, P. 374 Bosse, Y. 255 Bostrum, Nick 360 boundaries, boundary-work 422; biobanks 312; knowledge production 471, 487; representation(s) 187, 190, 198, 209; stem cell research 45–46, 49–53 Bourdieu, Pierre 53–55 Bourret, P. 497 Bové, Jose 118 Bowker, Geoffrey C. 434n12, 483n9 Boyer, Herbert 226, 510 Brazil 192
Brazma, A. 474, 483n10 breast cancer 9–10, 18, 25, 29, 66; genomic resource facilities 512, 513; insurance 131, 132; knowledge production 489, 492; media representation 215; privacy 332, 337 Breen v.Williams (1996) 333 Bristol Meyers Squibb 153 Brock, Dan 361 Brookhaven National Laboratory 166 Brown, N. 2, 43, 47 Brown, P. 29 Brownsword, R. 273–74, 450, 455 BSE 113–14, 123, 207 Bt maize 114, 118, 119, 120, 121, 122 Buchanan, Allen 361 Burri, R.V. 183 Busby, H. 310, 311 Bush administration 129, 206, 450 Butler, J. 491 Buttel, Fred 123 Callon, M. 29, 193–94, 506 Cambrosio, A. 480 Canada: biobanks 302, 309–10, 316; human dignity 449, 456–57; insurance 131, 133, 137, 139; knowledge production 495; privacy 324, 326, 339; terminator technologies 198n4 Canavan’s disease 312 cancer 18, 51, 66, 263, 356; animal biotechnology 385; biobanks 304, 305, 312; knowledge production 487, 498; privacy 332–34, 337; resource facilities 502–3, 511, 512–15; see also breast cancer Capecchi, Mario 226 capital 53–54; see also biocapital Capra, F. 164 cardiology 9 Carnegie Institute for Plant Biology 479 Carrel, Alexis 231–32, 235, 249 carrier status: genetic testing and screening 77, 80–81, 82, 83, 489; human genetic engineering 356–57 Cartagena Protocol on Biosafety 195 Castells, M. 163 CATCHEM database 286–87, 289 Catholicism, eugenics 439 Catts, Oran 234–35 Caulfield, T. 275, 451 Cavalli-Sforza, Luca 423, 430, 431 Celera 151 Cell 507 cell culture models 230 Cell Ontology 475, 478 Centre for Genetics and Society (US) 209 charitable trusts, biobanks 315 Chiang-Min 408 Children’s Hospital of Philadelphia (CHOP) 506
523
INDEX
chimeras 8, 27, 497; human dignity and biotechnology politics 452–54; representation 190, 227 China 42, 61, 167, 170; biobanks 302, 305, 316; eugenics 440; innovative gene technologies 496 choice: bioethics 322; consumer and agribiotechnology 118, 121; disability 377–78; diversity and justice 402–3; eugenics 445; human genetic engineering 360; nutrigenomics 97–98; reproductive genetics 59–75 Chronicle of Higher Education 403n1 Church, Georg 415n14 Ciba-Geigy 114 citizenship 11, 87–88, 405; see also biocitizenship civil liberties 209, 283, 293, 296, 344, 494 civil rights/responsibilities 24; disability 373, 374 civil society 199; agribiotechnology 114, 121, 123 claims-making, stakeholder representation 192–93 Clarke, Angus 60 Clarke, David 213, 214 class, eugenics and genetic engineering 350, 351 clinical gaze 11, 21, 33 Clinton, Bill 184, 214, 423 cloning 8; animal technology 196, 382, 383, 384–85, 388–95; knowledge production 487, 491; pharmaceutical industry 153; regulation 268; representation 71, 190, 196; see also human cloning Cockburn, I. 159 CODIS database 285 Coen, Enrico 252–53 Coetzee, J. M. 396n1 Cohen, Norman 226 Cold Spring Harbor Laboratory 165 collaboration: biobanks 304, 314–15, 316; commercialisation 107–8; complexity of genetics and 256–57; data distribution 469–85; knowledge economy 168–78; knowledge production 465, 466–67, 504, 505–10; stem cell research 48, 51–52, 53, 54 collective identity 1; forensic DNA databases 292; nutrigenomics 98; religion and nation 12, 311, 404–21; stakeholder representation 191, 194 collective memory 78 collective rights 321 Collins, Francis 3–4, 191, 423 Collins, H.M. 297n15, 465 Coltivatori Diretti 117 Columbia University 508 commercialisation 5, 107–9, 268; biobanks 303, 304, 311–13, 315; human dignity 456–57, 458; knowledge production 465, 479, 497; privacy 329–30, 339–40; representation 222; stem cell research 43; see also agribiotechnology; bio-economy; biotechnology;
524
insurance; pharmaceutical industry; public/ commercial sectors computer simulations 224–25 Concordat and Moratorium on Genetics and Insurance (2005) (UK) 135 Condit, Celeste 207, 212, 215 confidentiality 307; doctor-patient relationship 334, 337–38, 344 consent: biobanks 306–7, 313–14, 316; forensic DNA databases 283, 287, 289; knowledge production 494; privacy 330–33, 341, 343; see also informed consent constructivism 7, 52, 188 Consultative Group for International Agricultural Research (CGIAR) 192 consumer groups: agri-biotechnology 114, 115, 119, 121, 123; knowledge production 494 consumer rights 19, 121 Cooke, Philip 107 Cooper, M. 41 Coordination Paysanne Européenne 115 Copus Grant Schemes 208 Corner House (UK) 209 Corrigan, O. 493 cosmetic surgery 8 Cowan, Ruth Schwartz 402, 403n1 Cragg Ross Dawson 312 craniometry 407 Cribb, Alan 45, 46 Crichton, Michael 241 Crick, Francis 2, 209, 351 cri du chat syndrome 488 crime 76, 324; see also forensic DNA databases Criminal Justice Act 2003 (UK) 290 Criminal Justice and Police Act 2001 (UK) 290, 291 Criminal Justice and Public Order Act (CJPOA) 1994 (UK) 288–89 critical art 224, 225–43 critical bioethics, and disability 375, 376, 379 critical science studies 183 Crossley, N. 188 CSI (television programme) 234, 243 cultural hegemony 239 cultural politics 197 cultural studies 214 culture: biomedicalisation 23; and biological sciences 7–13, 18; clinical/scientific divide 47–48, 51–52; collective identities 404–21; disability 372; genetic testing 88; knowledge production 465, 482; regulation 271, 276; representation 189, 190, 197, 203, 222–46; reproductive genetics 59–61, 68–71 Cunningham-Burley, Sarah 63 Cure Autism Now 34n8 cyberinfrastructure 472, 480 cybrids 190
INDEX
Cypriot Centre for Thalassaemia Treatment and Prevention 79, 80 Cyprus: genetic screening 76–93; insurance 135, 139 cystic fibrosis 9, 17, 30, 49, 59, 68; biobanks 312; eugenics 445; genetic engineering 355, 356–57; genetic screening in Germany 77, 82–84, 85–86, 88, 89; knowledge production 488 Daar, A. 100 dactyloscopy 407 d’Agincourt-Canning, L. 66–67 Daily Telegraph 298n20 Dana-Farber Cancer Institute (DFCI) 503 Daniels, Norman 361 Darwin, Charles, Darwinism 349, 351, 437, 438 Daston, Lorraine 242–43 databases see biobanks data classification 469, 473–76, 477, 480, 481 data distribution, regulatory role of genomic consortia 469–85 data protection 135–36, 307, 324–48; see also privacy Davenport, Charles 350, 440 Davies, M. 272–73 Davis, Bernard 352 Davis, Dena 377 Davis, Joe 237–38 Dawson, Graham 222 deafness 377–78 deCODE Genetics 19, 258n1, 302, 306, 308, 311, 455, 505–6 deCODEme 411 Degrazia, D. 453 Deleuze, G. 466 DeLisi, Charles 250–51 DeLuca, K.M. 192 dementia 30 democracy, agri-biotechnology and 118, 121 Denmark: agri-biotechnology 115–16, 120; eugenics 439, 443, 444, 446; human dignity and biotechnology 457; insurance 135, 139 Dennis, Agnes 240 deontology: and disability 369, 374; and human dignity 457 Department of Health White Papers (UK) 96, 98 designer babies 203, 213 Despoja, Natasha Stott 345n7 determinism 9, 26–27, 85 Deutsche Krebshilfe e.V. 83 developing countries, biobanks 302, 309, 314, 315 Devos, Y. 197 diabetes 254, 259n2; nutrigenomics 94; stem cell research 41, 43, 48, 49–50, 53
dignity: animal bio-technology 393; bioethics 323; human see human dignity Dingwall, Robert 213 Dion, Mark 240, 241 direct-to-customer testing 22, 31, 131; collective identity 411; nutrigenomics 96 disability and impairment: activism 28, 69–70, 368–69, 372, 374, 377–78; bioethics 321, 322, 367–81; genetic engineering 359; genetic testing 77, 85–86, 89; insurance 133, 136; media representation 209; privacy 342; reproductive genetics 59, 60, 61, 62, 65, 68–69, 70, 72; see also eugenics Disability Discrimination Act 1992 (Australia) 342 disability studies 59, 61, 62, 372, 373–74, 378 disease 1, 3, 12, 17–18; animal technology 385, 386; biobanks 304; biomedicalisation 24–27, 32–33; eugenics 439, 441–42; human dignity and biotechnology policy 452; media representation 212, 214–15; nutrigenomics 94; versus enhancement in genetic engineering 352–57, 363–64; see also disability and impairment; genetic testing; stem cell research distributive justice 283, 284 diversity 401–3; genetic 405, 422–36; see also collective identity; eugenics diversity studies 422 DNA 1, 10, 11–12, 203, 226; evidence in forensic science 27, 287–89; media representation 210, 212; see also gene DNA analysis and sequencing 3, 4, 19, 423, 470, 471, 503; collective identity 407, 408–12, 415n14; disability 370–71; genomics and bioeconomy 146–58 DNA databanks/databases see biobanks DNA photocopying 288, 426–27 Dolly the sheep 203, 268, 382, 384, 389 double helix 2, 203, 209, 224 Dovaston, Don F. 289 Downing, Claudia 64 Down’s syndrome 59, 65, 67 Dresden, Technical University (TUD) 83, 84 Drexel University, School of Biomedical Engineering, Science and Health Systems 233 DSM4 10 Dumit, J. 183 Dunning, J. 170 Duster, Troy 32, 405 dwarfism 194 dyslexia 10 Easton, Raymond 294 Eckhardt, S.B. 159 e-commerce 324 Economic and Social Research Council (UK) see ESRC
525
INDEX
economic development 191 economics, nutrigenomics 97 economy see bio-economy Ecoropa 117 Ectopia 237 Edwards, S. 360 Egorova, Yulia 409 Ehrich, K. 64–65 Elliot, C. 25 Ellison, George 434n17 ELSA initiative 321 ELSI initiative 184, 207, 321 Emanuel, Ezekiel 361 empirical bioethical approach to disability 374– 75, 376, 378, 379 employment, genetic discrimination 129–30, 269 end-of-life decisions 368 enhancement technology 349, 352–59, 361–64, 457; biomedicalisation 24–27, 31, 33; nutrigenomics 94, 95 environment, genetic interactions with 88, 255 environmental concerns: agri-biotechnology 114–15, 117, 119, 120, 121, 123, 124; animal biotechnology 389–90; stakeholder representation 196; visual representation 240–41 Environmental Genome Project, Genetic Variation Programme 433n3 epigenesis 3 epilepsy 30 Epstein, Steven 33n3, 185 equality 454; of opportunity 361–62 Ericsson 167 Eriksson, L. 42, 498 Erosion, Technology and Conservation (ETC) 192 ESRC (UK) 208; Stem Cell Initiative 42 Essen-Møller, Elis 444 Essentially Yours (ALRC) 325–44 Estonia, Estonians 194; biobanks 302, 308, 309, 310 ethics 6, 18; biobanks 267, 305, 306–8, 310, 313, 314, 316; commercialisation 108, 109; of disability 378–79; diversity and justice 402–3; forensic DNA databases 284; genetic testing and screening 81, 83–84, 85–86; insurance 108–9, 128–33, 134, 136, 137; knowledge production 490; media and human genetics 213; nutrigenomics 94, 95, 97–98, 99, 101; regenerative medicine 231; regulation 268, 272–73, 274, 277, 278–79, 280; reproductive genetics 60–61, 62, 63, 65, 69, 213; stem cell research 42–43, 44–47, 52, 494; transgenics 229–31; see also bioethics; ELSI initiative Ethics and Governance Council (EGC) (UK) 310 ethnicity: biobanks 311; disability 368–69. 375, 376; eugenic beginnings of genetic
526
engineering 350, 351; forensic DNA databases 283, 293; genetic testing 84, 86, 88–89; new genetics and collective identity 405–14; reproductive genetics 66 eugenics 18, 69, 70, 344, 401, 402: bioethics 322, 422, 437–47; biomedicalisation 25, 27; collective identity 194, 412, 415n10; genetic screening in Germany 77, 78, 85–86, 89; human genetic engineering 349–52, 354, 357–63; regulation 265 EuropaBio 121; see also race, racism Europe: animal biotechnology 394; biobanks 305; bioethics 321; biotechnology spin-offs 508; eugenics 439–40; insurance 131, 132, 133, 134–36, 138; knowledge economy 108, 167; knowledge production 495, 496; pharmaceutical industry 150, 153, 155–56; privacy 339, 342; regulation 271–72, 276–77; representation 196–97; socio-political systems and agri-biotechnology 110–23; stem cell research 42–43; see also European Union and individual countries European Bioinformatics Institute (EBI) 506, 507 European Convention on Human Rights (1950) 277, 298n16, 324 European Convention on Human Rights and Biomedicine (1997) 342 European Court of Human Rights 277, 298n16 European Organisation for Rare Diseases (EURORDIS) 195 European Patent Convention 457 European Prospective Investigation into Cancer and Nutrition (EPIC) 305 European Technology Platforms 517n5 European Union: agri-biotechnology 112–23; animal technology 386, 394; biobanks 314– 15; forensic DNA databases 285; knowledgebased economy and bio-economy 4, 6, 110, 176; knowledge production 472, 497; privacy 340; regulation 271–72, 276; see also Europe and individual countries Evans, John H. 322, 358, 364n1 Evans, Martin 226 exclusion 405, 412 expectations 23, 26, 85, 242, 253–56, 492; biobanks 310; bioethics 322; genomics and bio-economy 145–46, 158; nutrigenomics 95–96; privacy 344; stakeholder representation 190, 191; stem cell translation 47–49, 53 Falk, Raphael 279, 410, 488 Falshmura 408 family 10, 19, 27: forensic DNA databases 292, 293; identity 413–14; innovative technologies 489; privacy 331–34, 338–39, 343, 344; reproductive genetics 66–67, 68; see also genealogy
INDEX
Faulkner, A. 496 Featherstone, K. 10 Fédération Nationale des Syndicats d’Exploitants Agricoles (FNSEA) 118 feminism 11, 277–78; eugenics 443, 444; reproductive genetics 60 feminist bioethics 321, 375, 378 feminist techno-science studies 209 field 53–54 Fields, A.B. 278 film theory 212 fingerprinting 285, 287, 293, 407 Finholt, T. A. 483n18 Finkler, Kaja 27, 405, 412, 415n16, 489 Finland: eugenics 439; insurance 135, 140 Fleck, L. 465 Fletcher, John C. 354 Fletcher, Joseph 359–60 FlyBase 474, 475, 477 Food and Drug Administration (FDA) (US) 30, 195; genomic resource facilities 507, 512–15; innovative technologies 498 Food Ethics Council (UK) 97 Forensic Laboratory for DNA research (FLDO), Leiden 425–30 forensic science 27, 76; biobanks 263, 265, 283– 301, 303; privacy 344 Forensic Science Quality Regulation Unit 286 Fortun, Kim and Mike 258n1 Fosket, J. 29 Foucault, Michel 11, 21, 23, 25, 31, 184, 284, 486 Foundational Model of Anatomy 478 Foundation Jean Dausset (CEPH), Paris 434n14 Fox, Renee C. 8, 46–47 frame analysis 212 frames: stakeholder representation 191–93; reproductive genetics 63–71 France: agri-biotechnology 114, 115, 117–18, 120, 123; bio-economy knowledge value chains 171; eugenics 439; genetic engineering 356; genomic resource facilities 503–4, 505, 508, 509, 512; insurance 135, 140; knowledge production 472; pharmaceutical industry 147 Frankenstein image 41, 192, 210–11, 234 Franklin, Sarah 26, 27, 41, 60, 63, 64, 71, 190, 491 Fraunhofer IGB 230 Freeman, R.E. 187 Friedmann, Theodore 353–54 Friends of the Earth 115, 118 Friese, C. 27 FSS Ltd 285, 288, 298n25 Fukuyama, Francis 361, 363 Fullerton, S.M. 3 functional foods 85–86 functional genetics/genomics 85, 148
Gafoor, Jeffrey 292 Galton, Sir Francis 293, 349–50, 437 Gambia, biobanks 302 Ganchoff, C. 29 Garcia, E. 67 Garud, R. 517 Gaudillière, J.-P. 10 Gelsinger, Jesse 322 GenBank 473 gender 11, 209 gene 1, 2–4; musical and visual representation 252–53; representation 210, 247–59; see also DNA genealogy 66, 76; biomedicalisation 27, 30–31; collective identity 12, 406, 408, 411–12; see also family gene chips see microarray technology gene-environment interactions (GEI) 88, 255 gene expression 154, 512–13 gene flows 194–95 Gene Hunters (tv documentary) 433n7 Genentech 510 Gene Ontology (GO) 475, 477, 483n14 Gene Ontology Consortium 477–78, 479 Generation Scotland 309, 315 gene sequencing see DNA sequencing gene therapies 18–19, 23, 27, 490; bioethics 322; disability 368; genetic engineering 352–64; privacy 344; regulation 268, 270, 274 Généthon 147 Genetic Alliance 29, 185, 194, 195 Genetic Alliance Biobank 312 Genetic and Insurance Committee (GAIC) (UK) 135 genetic banks see biobanks genetic citizenship 24, 87–88, 185, 193, 194, 249 genetic counselling 19, 22, 51, 327, 441, 445; and genetic testing and screening in Cyprus and Germany 80, 81, 83; reproductive genetics 60, 61, 64, 65–66, 71 genetic determinism 210, 212, 251–52, 472 genetic discrimination 26, 86; disability 375–76; forensic DNA databases 293; genetic testing 86, 87, 375–76; human dignity 406, 448, 490; insurance 129–30, 131–32, 133, 134, 135, 136, 137; media representation 215; privacy 325, 327, 341–43, 344; regulation 265, 267, 269; stakeholder representation 196 genetic diversity 405, 422–36 genetic engineering 5, 111; animal technology 383, 384; bioethics 349–66; stem cell research 49, 50 Genetic Engineering Alliance 119 genetic exceptionalism 263–64, 269; animal biotechnology 382–83, 384, 394–95; forensic DNA databases 298n28; privacy 326–27, 342
527
INDEX
genetic information 19; nutrigenomics 94; see also biobanks; data distribution; data protection; genetic exceptionalism; privacy; regulation Genetic Information Non-Discrimination Act (GINA) 2008 (US) 129–30 Genetic Interest Group 185 geneticisation 405, 408, 448 genetic markers 24–25, 30, 33, 88, 133, 488, 494–95, 498, 505; forensic DNA databases 284, 292, 293; genetic diversity 423, 425, 426–30, 432 genetic modification see GM genetic psychiatry 10 genetic responsibility 24, 25, 65, 67, 69, 72, 193, 198; nutrigenomics 97 genetics: bioethics 321–23; biomedicalisation 23, 24–27; biomedicine 17–19; disability 367–72, 373; eugenics 411–12; human dignity 450; nutrition research see nutrigenomics; popular images 203–21; and society 1–14, 59; see also expectations; new genetics Genetic Savings and Clone, Inc. 385 genetic technologies 1, 2, 5, 59, 486–501; and disability 367–68; eugenics 442; stakeholder representation 188, 190 genetic testing and screening 17–19, 248, 256; biomedicalisation 24–27, 30–31; case studies of Cyprus and Germany 76–93; collective identities 401–12, 413; disability 375–76, 377; eugenics 441–42, 445, 446; insurance 108–9, 127, 128, 129, 131, 132, 133, 135, 137, 139; knowledge production 486, 487, 489, 490, 491–96, 497, 499; meaning 76–77; media representation 212; nutrigenomics 94, 96–97, 99–100; privacy 330–34; regulation 265, 274; reproductive genetics 59–75, 298n28; stakeholder representation 196 genetic therapies see gene therapies GenetiX Snowball 118 GeneWatch UK 196 Gene Wiki 481 gening 85 Genographic Project 433n3 genome 11–12, 22, 203 Genome Canada 309–10 genomic consortia regulatory role 469–85 Genomic Health 513 genomics 3–4, 5, 6–13, 33, 59, 71, 466; bio-economy 145–62; bioethics 321–23; biomedicalisation 23, 33, 486; biomedicine 17–19; collective identity 404–21; commercialisation 107–9; definition 146; disability 367–68, 370–72; expectations 145–51, 158, 253–56; knowledge production 488–89; in nutrition research see
528
nutrigenomics; platforms and hybrid formations 502–20; representation 71, 187– 202 genomic technology 2, 467 Genopole® network 503 Genset 147, 149 German Society of Human Geneticists 83 Germany: agri-biotechnology 121; bio-economy knowledge value chains 171; biotechnology ‘spin-offs’ 508; eugenics 368, 379n4, 438, 439, 440, 443, 446; genetic screening 76–93; genomics resource facilities 508, 512; insurance 135, 140; knowledge production 472; privacy 326; reproductive genetics 69 germline gene therapy 352–59, 364, 368, 451 Gibbon, S. 1, 29 Gibbons, S.M.C. 264 Gieryn, T.F. 45, 50, 52, 53 Gilbert, Scott 249 GINA see Genetic Information NonDiscrimination Act Glantz, L. 326 Glasner, Peter 276, 408 Glaxo 167 GlaxoSmithKline 152 table, 153, 155 GlaxoWellcome 148, 153 global economy, globalisation 109; agribiotechnology 111–13, 122, 123; insurance 127–44; regulation 264–65, 268 global public goods 101, 304, 497 GM 6, 8; animal biotechnology 382, 384–85, 386, 388–95 GM foods 5, 108, 110–26, 192, 195, 196, 197, 207, 238–40, 386 GM labelling 113, 114, 121–22, 123, 197 GNOM 225 Goble, C. 483n13 Goffman, E. 34n6, 191 Goldberg, D. T. 405 Goldstein, David 409 gothic imagery 12 Gottweis, H. 309, 311 governance: biobanks 303, 305–8, 309, 310, 313, 315, 316; knowledge production 465, 486–501; resource facilities 504–5; stakeholder representation 196–97; stem cell research 42 governmentality 11 Greece: agri-biotechnology 121; insurance 135– 36, 140 Green, R.M. 27 Greenpeace 114, 117, 118, 192 Griesemer, J. 51 group identity see collective identity group rights see collective rights Grunfeld, Thomas 227–28 GTS Biotherapeutics 385 Guardian 292
INDEX
Gugliotta, G. 295 Guidelines on Privacy in the Private Health Sector (Australia) 330–31 Habermas, Jürgen 86 habitus 53–54 Haddow, G. 312 Hadjiminas, Minas 79, 89n6 haemochromatosis 10 haemophilia 10 Haimes, E. 42–43 Haldane, John Burdon Sanderson 440 Hall, Stuart 189, 217n7 Hallowell, N. 66 Hammer, M.F. 410 haplotypes 30, 190–91 HapMap Project 190–91, 432, 433n3 Haran, J. 214 Haraway, Donna 230, 247, 256 Harisson, Ross 249 Harper, Dr 513, 514 Harris, John 27, 361, 374 Harrison, Helen and Newton 240 Hart, C. 231 Haseltine, Mara 240 Hayden, Cori 313, 314 HD see Huntington’s Disease health 1, 12, 17; bioethics of animal biotechnology 388–90, 394; biomedicalisation 22, 24–27, 32–33; eugenics 446; improvement 486–87 health care, health services 9, 79–80, 146, 172, 194, 321, 493, 496; biobanks 304, 308; reproductive genetics 71, 72 health insurance 26, 128–30, 138 Health Insurance Portability and Accountability Act 1996 (US) 129, 345n8 health social movements 28–30 heart disease 30, 47, 254, 312 Heath, D. 28 Hedgecoe, Adam 44, 184, 405 Hellenic Data Protection Authority 135–36 Heller, C. 118 Hellsten, Lina 213 Helsinki Declaration 456 Henderson, R. 159 Herzfeld, Michael 88 HGDP 322; genetic diversity 405, 422–25, 430–33 HGP 3, 4, 8, 59, 145, 146, 263, 292, 448; bioethics 321; biomedicalisation 17, 18; collective identity 408; genetic diversity 423, 432; genetic engineering 356; insurance 127; knowledge production 472, 488; privacy 325, 432; representation 184, 190–91, 207, 211, 214, 250–51 HGRDs see biobanks Hilbeck, Angelica 120
Hilgartner, Stephen 472, 473, 482 Hill, D. P. 483n14 Hirtzlin, I. 306 HIV/AIDS 327, 389 HIV/AIDS movements 28 hoaxes 211, 214 Hogben, Lancelot 440 Hogle, L. 8 Holliday, R. 470, 482n1 Hong Kong, privacy law 339 Hood, L. 426 Hopkins, Michael M. 108, 156, 493 House of Commons Science and Technology Committee (UK) 69–70, 145, 270, 309 House of Lords Select Committee on Science and Technology 207, 208 Hudson, T.J. 255 HugeNEt 254 Hughes, John 360 HUGO see Human Genome Organisation Huhn, W. 271, 273 human behaviour, genetics of 30, 31–32 human cloning 12, 136, 359; animal biotechnology 382, 389, 394; human dignity 448, 450, 451–52, 453; media representation 203–21 human dignity 323; and biotechnology policy 448–61; definition 449–51; genetic testing 89; privacy in Australia 340, 342, 343 human embryonic stem cell research see stem cell research Human Fertilisation and Embryology Act 1990 (UK) 273 Human Fertilisation and Embryology Authority (HFEA) 70 human genetic engineering (HGE) 349–66 human genetics: media representation 203–21; research databases see biobanks Human Genetics Advisory Committee (HGAC) (Australia) 327–28, 337, 338, 342 Human Genetics Commission (HGC) (UK) 70, 267, 286, 307, 326, 341, 490 Human Genome Diversity Project see HGDP Human Genome Epidemiology Network 315 Human Genome Organisation 134, 423, 424; Ethics Committee 101, 314 Human Genome Project see HGP Human Genome Sciences 147, 148, 149, 152 table, 153, 155, 156–57 human nature 362, 363, 389 Human Reproductive Technologies and the Law (HOC) 69–70, 270 human rights 193; bioethics 278–79; disability 374; human dignity 449, 452, 454, 455–56, 457; human genetics and media 209; insurance 134; privacy 341–42; regulation 276, 277–78, 279
529
INDEX
Human Tissue Act 2004 (UK) 306–7, 341, 497 Human Tissue and Embryos (Draft) Bill (UK) 270, 497 Human Variome Project 322 Huntington’s disease 9, 17, 29, 59, 64, 66, 67, 488; animal biotechnology 390; insurance 135 Huxley, Aldous 241, 242 Huxley, Julian 232, 351, 440 hybrids 8, 226, 359; genomic resource facilities 502–20 Hydén, L.C. 489 Hyman, S.E. 488–89 hymnNextTM project 236–37 Hyseq 149 Iceland 12; biobanks 302, 306, 308, 309, 310, 311; human dignity and biotechnology policy 455, 456 ICT 22, 167, 169, 174–76, 178; privacy 324 identity 1, 8, 10, 11, 12; biomedicalisation 22–24, 26–33; genetic testing 87; genomics 488; nutrigenomics 98; regulation 263; reproductive genetics 66, 67; stakeholder representation 190, 191, 193–94, 198; visual representation 236; see also collective identity; individual identity image science 223, 224–26, 498 imagined communities 404–5, 408 immigration 84, 86, 88, 265, 350, 413, 439 immunology 48 immunophenotyping (IPT) 504–5 impairment see disability Incyte Pharmaceuticals 147, 149, 152 table, 157 India 42, 61, 265; biobanks 302, 309; gene technology 496; insurance 133, 140; knowledge economy 167, 170; stakeholder representation 192 indigenous populations, genetic diversity 424 individual, nutrigenomics 94, 95, 96–97 individual identity 412, 413–14 individualism 70, 89, 321, 322 individual rights and liberties 84, 193, 198, 277–78, 293, 321, 344, 442, 450 industrial biotechnology 5 informed consent 19, 134; biobanks 306–7, 313, 454; eugenics 442, 445; genetic testing and screening 76–77, 83, 84, 86, 298n28; human dignity 450; nutrigenomics 101; privacy in Australia 330–31, 343; stakeholder representation 196 innovation studies 190 Institute for Genomic Research (TIGR) 147 Institut National de la Recherche Agronomique (INRA) 117 insurance 108–9, 265; comparative study of international approaches 127–44; privacy 325; regulation 265, 269
530
integrity, animal biotechnology 393, 394, 395; human dignity and biotechnology policy 453, 454 Intel 167 intellectual property 5, 29, 190, 265; bioeconomy 164; genomic resource facilities 508, 510; knowledge production 472 interdisciplinarity: bioethics 374; complexity 256; human genetics and media 208; stem cell research 48; visual representation 223, 235 international aspects: bio-economy 5; biotechnology policy and human dignity 448, 456, 457 International Covenant on Civil and Political Rights 324 international movements 108 international organisations: data distribution 471– 72; insurance 134; stakefolder representation 192 international regulation and governance 265, 275–77, 324; biobanks 306, 314–15; human dignity 450, 452, 454–55, 456, 457 international resource facilities 512 International Stem Cell Initiative 42, 495 International Treaty on Plant Genetic Resources for Food and Agriculture 193 internet 22, 131, 192, 193, 223, 324, 411 Interpol 284 In Vitro Diagnostic Multivariate Index Assays (IVDMIAs) 513–15 Ioannidis, John P.A. 254 Isler, Thomas 238, 239–40 Israel 69, 409, 412–13, 495 Italy: agri-biotechnology 116–17, 121; bioeconomy knowledge value chains 165, 171; cystic fibrosis 89n11 IVF 41, 203, 356, 368, 442, 491, 497; animal biotechnology 391 Jackson, E. 278 Jacob, François 252 Jamison, A. 197 Japan: animal biotechnology 386; biobanks 302, 303, 308–9, 310, 311, 316; eugenics 439; insurance 133, 140; knowledge production 472; patents 150, 155–56; stem cell research 42 Japanese Association for Spinal Cord Injuries 42 Jasanoff, Sheila 285 Jeffreys, Sir Alec 290, 291, 294, 297nn2, 9 Jews: collective identity 12, 407, 408–11, 412–13; eugenics 444 Johannsen, Wilhelm 445 John Moore v. Regents of University of California 313 Johnson, R. E. 487
INDEX
Joint Parliamentary Committee on The Human Tissue and Embryos (Draft) Bill (UK) 270 Joly, Yann 108–9 Jones, M. 272, 275, 276, 278, 279 journals, data sharing 472, 478, 479 justice 130, 283, 353, 401–3, 412; see also distributive justice; social justice Kadoorie Study of Chronic Disease 305 Kalfoglou, A. 69 Kant, Immanuel 98, 225, 321, 393, 449, 450, 456 Kapur, R. 277 Karafyllis, Nicole 229–30 Karnoe, P. 517 Kass, Leon 362, 363 Kay, J. 164 Kaye, J. 264 Keappeli, Othmar 239 Keller, Evelyn Fox 198n1, 247–48, 249 Kerr, Anne 18 Kevles, D.J. 350, 351, 426, 440 Kidd, Kenneth 425 Kirsh, Nurit 410 Kittles, R.A. 441 Kitzberger, Martin 296 Klawiter, M. 29 Kluver, Billy 237 Knome 415n14 Knoppers, B.M. 264 knot, metaphor for complexity of genetics 247–59 knowledge, continuity 84–85 knowledge-based bio-economy 4–6, 107, 109, 163–80; markets 164, 167–71, 177–78; networks 171–76, 177–78; state 165–67, 176–77 knowledge-based society 110 knowledge production 5, 76, 165, 256, 465–68; biomedicine 22; genomic platforms and hybrid formations 502–20; poststructuralism and 184; and race 432; regulatory role of genomic consortia 469–85; representation of new forms 195–96; stakeholder representations 188, 197; terminology 473–76; visual representation 222–46; see also genetic technologies knowledge value chains 107–8, 163–80 Knowles, L.P. 276, 277 Konrad, Monica 66 Koops, Bert-Jaap 292 Kotchetkova, I. 43 Koteyko, Nelya 213 Kraepelin, Emil 10
Kraft, Alison 43, 108, 157 Kuo, Wen-Hua 311 laboratories: chimpanzee project and genetic diversity 425–30; privacy 327; visual artists in 237–41 Laboratory for Human Genetics and Evolution, Munich 434n10 Lacks, Henrietta 231 Lakoff, George 213 The Lancet 507 Landecker, H. 263 Landström, H. 508 language, genetic diversity 431 laser technology, genetic diversity 429 lateral transfer technologies 227 Latin America, eugenics 439 Latour, B. 52, 193, 285, 425, 465, 467 Latvia, biobanks 302 Laurie, G.T. 274 Lauritzen, S. 489 Law, John 432 law 263, 265, 269, 271, 273–75, 280; biobanks 305–6, 309; commercialisation 108; eugenics 443, 444; forensic DNA databases 283–301; genetic testing and screening 77; human dignity and biotechnology policy 448, 450, 451, 452, 453, 456; hybrid formations 505–6, 510; insurance 128–33, 134, 135–36, 137; knowledge production 482; media and human genetics 207, 211; media representation 211; privacy 326–27; reproductive genetics 61; see also ELSI initiative Leadbeater, Charles 164 Lederberg, J. 146 Lee, C.P. 483n5 Lee, E. 268 Lee, S.S. 31 legitimacy, biobanks 303, 308–11, 315 Lemba, DNA analysis and collective identity 408–10, 413 Lemmens, Trudo 135 Lenoir, N. 278 Leonardo/ISAST 237 Leroi, Amand 406 Levidow, Les 108 Lewis, Suzanna E. 474, 478, 481, 483nn15, 17 Lewontin, Richard 249, 250, 252, 434n8 liberalism: choice 62; eugenics 438–39; regulation 269–70, 279, 280; reproductive diversity and justice 402–3 life, and geneticisation 405 life insurance 130–32, 136, 137, 138, 265 life sciences see biological sciences Lindburgh, Charles 231 Lindee, Susan 210, 212
531
INDEX
Linton, Simi 379 LION Bioscience 506 Lippman, Abby 59, 405 Lisbon Agenda/Strategy 4, 110 literature 12; biotechnology 241–42; poem about gene 257; representation 210–11, 215, 228, 232, 241–42 Little People of America 194 Livingstone, D.N. 43 local biology 89 Lock, Margaret 8, 10, 86, 248, 424 Löwy, I. 44 Lundborg, Herman 444 Lynch, Michael 263, 298n24,27, 427 McCormick, Jon 228 McCray, A.T. 146 McCrudden, C. 449–50 McEwan, I. 488 McHale, J.V. 267 McKelvey, Maureen 504 McKeown, T. 486 McKie, R. 302 Macklin, Ruth 361, 450, 451 McKusick, Victor A. 33n5, 146 McLean, Sheila A.M. 263, 279 McMeekin, A. 506, 507 Mcnally, Ruth 263, 298n24 McNamee, M.J. 360 Magnusson, R.S. 274 Making Babies (HGC) 70 MammaPrint® 513 Manhattan Project 225 Mannion, G. 274, 280 markets 108; agri-biotechnology 121–22, 123; bio-economy knowledge value chains 163–80 Marks, Jonathan 403n1 Marteau, Teresa 59–60 Martin, A. 27 Martin, Paul 43, 108, 184, 213, 310, 311, 494 Martinez, Fernando 256 Massachusetts Institute of Technology (MIT) 508 mass spectrometry 502–3 Maxwell, R.A. 159 Mayr, Ernst 225 M’charek, Amade 405 media representation 41, 71, 203–21, 382, 385 media studies 214 medical gaze 492 medicalisation 21, 23, 32; see also biomedicalisation Medical Research Council (UK) 43, 306, 309 medicine 11, 107, 368; animal biotechnology 386, 387; ethics 272–73, 322, 367; genetic testing 76; health improvement 486;
532
knowledge production 470–71; see also biomedicine; confidentiality Meilaender, Gilbert 363 Melungeons 413 memory politics 89 Mendelian theory 384, 437 Mentzas, G. 483n18 Merck 148, 152 table Merton, Robert K. 297n15 metaphors 185, 192, 212–14, 215; gene 247–59 Mexico, biobanks 302, 305 MIAME 507 Miami Children’s Hospital 312 Michael, M. 2, 47, 494 MicroArray Gene Data Expression Society (MGED) 507 MicroArray Quality Control (MAQC) 507 microarray technology 90n15, 470, 492; platforms and hybrid formations 502, 503, 505, 507, 512–13 Middle East, collective identity 408, 410–11, 413 Mill, John Stuart 269–70, 271, 358, 449 Millennium Pharmaceuticals 147, 149, 152 table, 157 Milunsky, A. 97 MINDACT 513 Minimum Information About a Microarray Experiment (MIAME) 507 Mironov, Vladimir 232 MIT 508 Mitchell, R. 107, 145 Mitchell, W.J.T. 223, 225–26 Mittra, J. 69–70 Mjøen, John Alfred 440 Model Genetic Privacy Act (US) 326 Mol, A.M. 44 molecular biology 2, 3, 111; resource facilities 502–20 Molecular Biology Core Facilities (MBCF) 502 molecular gaze 21, 33 money laundering, and privacy 324 Monsanto 113, 114, 118, 193 monsters 227, 236 Montoya, Michael 259n2 Montreal International Conference on Intelligent Systems for Molecular Biology (1998) 474 Moore, John 231 moral value 6 Moreno, Jonathan 360 Morris, Robert 240 Morrison, Patrick J. 132 Mouse Genome Informatics 477 Mowery, D.C. 508 MRI 498 Mukoviscidosis Institute 82–83
INDEX
Mukoviszidose e.V. 82, 83, 87 Muller, Hermann 351 multidisciplinarity see interdisciplinarity multiple sclerosis, biobanks 312 Murray, S.J. 268 muscular dystrophy 9, 10, 29, 59, 66, 146, 193–94 music, metaphor for gene 252–53 mutants 227 Myrdal, Gunnar and Alva 444 Myriad Genetics 147, 149, 157 mythology, transgenics 227, 230 names, representation 192 nanomedicine/technology 207, 215, 323 Narr, W.-D. 278 Nash, Adam 213 Nathaniel case (R.v.Nathaniel) 287–88, 290 nation 1, 12, 191, 194, 311, 404–21 National Cancer Institute (US) 165, 498, 507, 511–16 National Child Development Study (UK) 305 National Congress of American Indians 424 National DNA Database (NDNAD) (UK) 283–301; drawbacks 393–96 National Health and Medical Research Council (NHAMRC)(Australia) 325, 334, 337, 338 National Human Genome Research Institute (NHGRI) (US) 3 National Institutes of Health (NIH) (US) 43, 146–47, 159, 207, 208; bio-economy knowledge value chains 166, 177; data distribution 472, 478 National Policing Improvement Agency (NPIA) (UK) 286, 295 National Science Foundation (US) 472, 483n6 National Semiconductor 167 National Statement on Ethical Conduct in Research Involving Humans (NHMRC) 333 Natural History Museum, London 241 Nature 1, 2, 3, 228–29, 250, 257, 507 nature, naturalness: animal biotechnology 389, 391–94, 395; drive to mastery over 362; and society 7–13 nature/culture debate 190, 350 Nature Genetics 254 Nazism 85, 89, 351, 438, 439, 440, 443, 444, 446, 449 NDNAD (UK) 283–301; drawbacks 393–96 Nelis, A. 271 Nelkin, Dorothy 11, 207, 210, 212 neo-liberalism, agri-biotechnology 108, 111–13, 117, 122 neonates see newborns Nerlich, Brigitte 213–14, 215
Netherlands: bio-economy knowledge value chains 165, 167, 168 fig., 172, 176; forensic DNA databases 297n3; genomic resource facilities 513; health care 493; insurance 135, 136, 140; privacy 326, 345n9; reproductive genetics 66 networks 5, 6, 108, 109; bio-economy knowledge value chains 163–80; gene 251, 252, 253–57; genomic research facilities 505–10; knowledge production 466–67, 495; stakeholder representation see activism Neufeld, Peter 298n27 neuroethics 360 neuropharmacology 357 neurosciences 401 newborns: disability 368–69; eugenics 442; genetic testing and screening 77, 82–84, 88, 89, 99 new genetics 1–2, 10, 18, 33, 402, 488, 490; biomedicalisation 21–40; collective identity 404–21; eugenics 438, 442; privacy 325; stakeholder representation 185, 187–88; see also genetics; genomics New Genetics and Society 42 new growth theory 164 new ill 486 New York Times 283, 406 New York University 508 New Zealand, insurance 133, 137, 140; privacy 325, 339 NGOs: agri-biotechnology 114–15, 116, 117, 118, 121, 123; stakeholder representation 192 Nguyen, V.-K. 87 NHAMRC 325, 334, 337, 338 Niewöhner, N. 28 Nightingale, Paul 108 NoArk project 235 Noble, Denis 253 normality 489; and disability 372; and genetic engineering 354, 355–56 North Cumbria Community Genetics Project (NCGP) 305 Northern Ireland 89n11 Norway, eugenics 439, 443, 444 Nottingham University, Institute for Science and Society 212–13 Novartis 113, 117, 152 table, 153, 167 Novas, Carlos 17, 25, 26, 67 Nowotny, H. 197 Nuffield Council 293–94 nutrigenomics and nutrigenetics 19, 94–103, 490; stakeholder representation 196 obesity: media representation 214; nutrigenomics 94, 99–100 OBO Consortium/Foundry 478, 479, 481, 483nn13,16
533
INDEX
Observer 302 OECD 4, 6, 472 Office of Science and Technology (UK) 208 Omagh case, forensic science 298n25 oncogenes 50, 53, 263 oncology 9, 44 Oncomouse 228, 230 Oncotype DXTM 513 O’Neill, Onora 64, 278 Ontology for Biomedical Investigation 475 Ontology for Clinical Investigations 475, 478 Open Biological Ontology Consortium 483n13 Open Biological/Biomedical Ontology Consortium/Foundry 478, 479, 481, 483nn13,16 Organisation for Economic Cooperation and Development 4, 6, 472 organ transplants 8, 47, 231–32, 401, 402, 486 Origene 229 ornithine transcarboxylase deficiency 356 Ottino, Julio 225 Oviedo Convention on Human Rights and Biomedicine (1997) 134–35 Pääbo, S. 434n16 Palestine see Middle East Pálsson, Gísli 12, 405, 415nn7,15 Parfitt, Tudor 408–9 Parkinson’s disease 41, 385 Parry, B. 2 Parsons, E. 66 Parthasarathy, S. 29, 492 partnerships, biobanks see collaboration patents 108; agri-biotechnology 111, 112, 122; biobanks 312; human dignity and biotechnology policy 448, 456–57; knowledge economy 172, 174; pharmaceutical industry 147, 150–51, 152, 155–56; regulation 265; stakeholder representation 190, 192, 195, 196 paternity testing 76, 265, 343 patient groups 28–30; biobanks 311–13, 315; cystic fibrosis 82–83; genetic testing 88; knowledge production 494; reproductive genetics 68; stakeholder representation 185, 194, 195, 197; see also activism Paul, Diane 60 PCR profiling 288, 426–27 Penrose, Lionel 440 performativity 47, 48, 52, 53, 184 personal genome 19 personalised genetic histories 411–12 personalised medicine 19, 23, 96, 304, 513 personalised nutrition 96–97, 99 Petersen, Alan 309 Pfizer 148, 152 table, 153, 154
534
PGD 60–61, 62, 64, 65, 68, 69, 70, 85, 86, 491; disability 368, 369, 375–76; genetic engineering 356; stem cell research 49, 50–52, 53 PGH testing 411–12 pharmaceutical industry 5, 90n15, 108, 145–62, 174, 177, 178, 227; biobanks 311–13, 314, 315; knowledge production 496; resource facilities 506, 508, 509; stem cell research 48–49 pharmacogenetics 44, 95, 154, 415n7, 487, 490, 491–97, 498, 499 pharmacogenomics 2, 19, 23, 95, 96, 100, 108, 147, 154, 191, 265, 313, 344, 415n7, 513 phenomenology, and disability 379 phenotype 293, 405; disability 370–72, 378, 379 phenylketonuria (PKU) 76, 83, 99 Philippines, insurance 133, 136, 141 Philips company 165, 167 philosophy: disability 374; collective identity 406; genetic engineering 360, 361–62; human dignity 449; transgenics 229–30; see also bioethics; ethics Pitchfork, Colin 287, 289, 290–91 Plant Ontology 475, 478 Plant Ontology Consortium 478 Plant Physiology 479 platforms: genetic testing 87–88; genomics 469, 502–20; knowledge-based economy 168–69, 177 PND 59, 60, 61, 62, 64, 65, 67, 68, 70, 85, 86; disability 368, 375–76, 378; eugenics 442, 446 Police and Criminal Evidence Act (PACE) 1984 (UK) 288–89, 290 political science 42, 362–63 politics, political economy: agri-biotechnology 122; collective identity 407, 410, 412, 414; diversity and justice 403; genetic diversity 422, 432, 434n12; genetic testing and screening 86; human genetics and media 206–10; nutrigenomics 97; regenerative medicine 231; stakeholder regulation 269–72, 276; stakeholder representation 185, 197; stem cell research 42; see also biopolitics Popenoe, Paul 440 Popper, Karl 470 popular culture see media representation; television population genetics 3, 12, 322; genetic diversity 405, 422–36; nutrigenomics 100; religion and nationhood 404–21 Portugal: insurance 135, 141; visual representation 237 post-genomic science 8, 85, 107, 136, 227, 252, 302, 490 post-human society 364 poststructuralism 184
INDEX
Potter, Van Rensselaer 321 power 11, 406; see also biopower power-knowledge concept 184 Prainsack, Barbara 12, 296 pre-implantation genetic diagnosis see PGD premarital and pre-engagement screening, Cyprus 80–81, 85 pre-natal diagnosis see PND pre-patient 10 President’s Council on Bioethics, genetic engineering 355, 360, 361, 363 Press, N. 32 presumed consent, biobanks 455 Prior, L. 492 privacy 19; biobanks 101, 307, 324; bioethics 18, 322, 324–48; forensic DNA databases 283, 294, 298n28; insurance 128, 131; knowledge production 472; nutrigenomics 101; regulation 277 Privacy Act 1988 (Australia) 328–40 Privacy Legislation Amendment Act 2006 (Australia) 335, 338, 345n12 private/public see public/private Proctor&Gamble 178 professional regulation 268, 272–73, 274, 279, 280 property rights 265, 313–14; see also intellectual property prospective population studies 305–6 proteomics 466, 502 psychiatry 9, 10 public: agri-biotechnology 122; animal biotechnology 383, 385–86, 389, 394, 395; biobanks 308–13, 315, 316; human genetic engineering 351, 360, 363–64; human genetics and cloning 205–6; insurance 131, 133, 134, 138; regulation 270–71, 280; reproductive genetics 69; stakeholder representation 183, 185, 187–202; stem cell research 42–43; transgenics 229 public/commercial sectors: agri-biotechnology 112, 122; genomic platforms and hybrid formations 504–10; knowledge economy and production 107–8, 109, 158–59, 165, 304, 467; see also collaboration public education: privacy 327; thalassaemia screening in Cyprus 80, 81, 86 public goods 101, 164, 191, 304, 472, 497 public health 196, 264–65, 486; bioethics 322; eugenics 441, 442; genetic testing and screening 76, 81, 491–92; nutrigenomics 94, 99–101; reproductive genetics 68 public interest 134, 360; privacy in Australia 327, 331, 332 Public Library of Science Medicine 254 public policy: human dignity and biotechnology 448–61; regulation 264, 265, 280; research on media and human genetics 203–10;
reproductive genetics 68, 72; see also regulation; state public/private relations, reproductive genetics 71–72 public sociology 55 Pusztai, Arpad 120 PXE 30, 195 PXE gene 29 PXE International 195, 312 Rabeharisoa, V. 29, 193–94 Rabinow, Paul 7, 23, 28, 33, 52, 88, 284, 292, 293, 406 race, racism: biomedicalisation 30–31; collective identity 12, 405–14; eugenics 350, 351, 444; forensic DNA databases 283, 291–92, 293; genetic diversity 424, 430–33; human genetics and media 209; media representation 215; see also ethnicity RAFI 192, 424 Ralph Lauren Corporation 164 Rapp, Rayna 28, 29, 33, 60, 61, 65 Reagan, Ronald 206 Reardon, Jenny 405, 406 reclamation artwork 240 recombinant DNA technology 226–27 Redclift, N. 1 Reddy, Colin 471 reform eugenics 349, 351–52, 354, 357–63, 440–41 regenerative medicine 41, 44, 47–48, 54, 344; visual representation 231–35 regulation 5, 11, 263–66, 267–82, 353, 458; agri-biotechnology 111, 112, 113, 114, 115–24, 197; animal biotechnology 395; biobanks 263, 264, 267, 302–18; by committee/advisory body 268, 271, 273; frameworks 271–77; genomic consortia 469–85; innovative technologies 486, 491, 494, 496, 499; knowledge production 466, 480–82; by law see law; minimalist 269–70, 271, 272–73; nutrigenomics 96; platforms and hybrid formations 504–6, 507, 510, 512–16; professional 268, 272–73, 274, 279, 280; reproductive genetics 61, 69; stakeholder representation 194–95, 196–97; stem cell research 42, 45–46, 276; supranational 275–77; see also forensic DNA databases; standards regulatory science 497–98 Reid, G. 217n7 religion: collective identity 404–21; human dignity 449; media and public 206 Renan, Ernest 414n1 Reodica, Julia 236–37 representation(s) 183–86; gene 247–59; reproductive genetics 71; stakeholder
535
INDEX
187–202; visual 222–46; see also media representation reproductive cloning 209, 214 reproductive genetics 59–75, 442; disability 367–68; genetic engineering 357–59; regulation 275 reproductive technology 1, 18 responsibility see genetic responsibility Rhee, S. 475 Rheinberger, H.J. 190, 466 right “not to know” 18, 77, 81, 83, 131; privacy in Australia 333–34 Rio Declaration (1992) 116 risk 1, 9–10, 11, 17–18; agri-biotechnology 110, 112, 113, 114, 115, 117, 118, 119, 120, 123, 124; animal biotechnology 386–87; biobanks 306, 307–8; biomedicalisation 22, 24–27, 30– 31, 33; genomic resource facilities 512; innovative genetic technology 487, 489, 490; insurance 133; regulation as management of 263, 265; reproductive genetics 65, 66, 71; stakeholder representation 194–95; visual representation 229 RNA 2–3, 257 Robert, J.S. 355, 453 Roberts, C. 27, 60, 64, 71, 491 Roberts, L. 423 Robertson, John 358–59, 361, 362 Robinson, M. 276 Roche, P. 326 Roche 152 table, 153 Rockefeller Foundation 111, 237 Rome, human dignity 449 Romer, Paul 163 Roosevelt, Theodore 350 Rose, Nikolas 21, 22, 23, 25, 26, 63, 67, 145, 190, 284 Rothman, Harry 157, 276, 408 Rothstein, Mark A. 108–9, 269 Royal Berkshire Polo Club 164 Royal Commission on Criminal Justice (1993) 288, 289 Royal Society 207–8; ‘Science in Society’ programme 207 RT-PCR 19 Rubin, B.P. 42 Ruddle, Frank H. 33n5, 146 Rural Advancement Foundation International (RAFI) 192, 424 R v. Chief Constable of South Yorkshire ex parte S and ex parte Marper 297–98n16 Saccharomyces Genome database 477 safety, agri-biotechnology 110, 111–13, 124 Sagoff, M. 110 Salter, B. 42, 272, 275, 276, 278, 279 Sandel, Michael 362–63
536
Sandoz 313 San peoples 424 Santos, B. 499 Sapp, Jan 249 SARS 389 saviour siblings 61–62 Savulescu, Julian 359, 374 Scandinavia, eugenics 438, 439, 440, 441, 442–46 Schairer, Cynthia E. 322 Schellekens, Maurice 292 schizophrenia 10 Schumpeter, Joseph 158 Schweiger, T. 115 Science 411, 423 science and technology studies (STS) 12, 209, 406, 465, 474 Science as Culture 42 Science Daily 243n4 science fiction see literature Scientific American 431 scientific capital 54 Sciona 96 SCNT see somatic cell nuclear transfer SCOT 188 screening see genetic testing and screening Scully, J.K. 69 Scully, Jackie Leach 321, 375 Searle, G.R. 440 Sedley, Stephen 283, 284, 293 self 8, 11; biomedicalisation 26–27; genetics 405 self-regulation 272–73 semiotics 212 Serre, D. 434n16 Seuss, Dr 228 Sgaier, S.K. 309 SGM profiling 294 Shakespeare, Tom 59, 60 Shelley, Mary 192, 210–11, 241 Sherwin, S. 279 Shields, Alexandra 258n1 Shockley, William 167 Shriver, M.D. 411 sickle cell anaemia 24, 30, 66, 356 Siemens 167 Sigma-Alrich Company 229 sign systems, visual representation 222–23 Sikkens, E. 66 Simpson, Bob 311, 412 simulations 224–25 Singapore 167, 302; eugenics 440; insurance 133, 136–37, 141 Singer, Peter 100, 322, 368–69, 374, 453–54 Sinsheimer, Robert 351–52 Skene, L. 279, 332 Sleeboom-Faulkner, M. 42 SLPs 287–88
INDEX
Smith, Anthony 414n1 Smith, B. 478, 481 Smithies, Oliver 226 SmithKline Beecham 112, 145–46, 148, 153 Smithson, Robert 240 Snow, D.A. 191, 197 SNPs 24, 30, 94, 191, 415n14, 425, 432 social accountability 486–501 social aspects of genetics see ELSI initiative; society and other individual topics social change 394 social control 403, 445 social Darwinism 438 social equality 401 social eugenics 490 social forces 402 social identity 1 socialism, and eugenics 443, 444 social justice 193, 209, 401, 486; see also distributive justice; justice social movements 185, 188; bioethics 321; human genetics and media 208–9 social networks 6, 324 social relations: disability 372, 373, 374; genetic innovation 490, 491–96 social sciences 1–13, 18; bio-economy 145–46; and biomedicalisation 28–30; collective identity 405–7; media representation 203–21; representation 183–85; stem cell research 41– 55, 494;; stakeholders 188 social structure 222, 486 social sustainability 116 social value, visual representations 236 social welfare, eugenics 442–45 society, genetics and 1–14, 59 socio-biology 7, 249, 406 socio-economic hybrids 502, 505–10, 516–17 sociology 12; animal biotechnology 383, 386– 95; bioethics 375; and health improvement 386; of medicine 217n4, 406, 516; of science and stem cell research 41–58; of scientific knowledge (SKK) 209; of technology 190 Soh, Shirley 238–39, 240 somatic cell nuclear transfer 49, 209, 448, 451, 494 somatic gene therapy 352–57, 363, 368 South Africa, insurance 133, 137, 141 South Korea: human genetics and cloning and media 203, 204, 209; insurance 133, 136, 141; stem cell research 231 Soviet Union, eugenics 439 Spain, agri-biotechnology 122 Spanish Disease 389 species 224–26, 323, 395, 453–54; see also integrity Spencer, Herbert 438 Spielman, B.J. 278
sport, nutrigenomics 94, 98–99 stakeholder representation 185, 187–202; concept of stakeholder 187–88 standards 466, 470, 473–74, 494–95, 498, 499; genetic diversity 432; genomic resource facilities 507; stem cell research 42 Stanford University 507 Star, S.L. 51, 483n9 state: agriculture 111; biobanks 304, 307, 309; bio-economy knowledge value chains 163– 80; biomedicalisation 29; commercialisation 109; eugenics 402, 439–40, 442–45; forensic DNA databases 283–301; identity formation 194; knowledge production 472, 478, 487, 496; media and human genetics 206–8; privacy in Australia 324–48; regulation 265, 269–72, 277, 279, 280; see also law; public policy Stefansson, Kari 302 Steinbock, Bonnie 361 Steincke, Karl Kristian 446 stem cell research and technology 12, 68, 71, 136, 231, 448; Bourdieu’s ideas applied to 53– 55; ethics and bioethics 42–43, 44–47, 52, 322, 494; expectations 47–49, 53, 494; human dignity 450, 451–52, 457; knowledge production 491, 494, 497; media representation 206–7, 209, 215, 217n7; pharmaceutical approaches 48–49; regulation 42, 45–46, 276; social science of 41–43; translational research 43–55 stem cells 2, 8, 233 Stemerding, D. 472 Stephens, N. 42 sterilisation, eugenics 439–40, 441, 443, 444–45, 446 stigmatisation 32, 80, 87, 327 Stone, Ruth 257 Strauss, A.L. 34n6 STRs 294, 425, 432 structural genetics and genomics 85, 191 STS 12, 209, 406, 474 Sunday Times 209 Sunder Rajan, K. 145 surreptitious sampling 283 surrogate markers 371–72, 373 surveillance: forensic DNA databases 283–301; privacy 324, 344 sustainability: agri-biotechnology 115–19, 122, 123, 124; pharmaceutical industry 145–62; stakeholder representation 192 Sutcliffe, Peter 286, 289 Suter, S.M. 269, 271 Swanson, Robert A. 510 Swazey, J.P. 8 Sweden: biobanks 302, 307, 309; biotechnology ‘spin-offs’ 508; eugenics 439, 443, 445;
537
INDEX
insurance 135, 141; knowledge production 495; privacy 326 Switzerland: agri-biotechnology 120; artists-inlaboratory programme 237–40; eugenics 439; insurance 135, 141; stem cell research 43 SymbioticA 234–35, 236, 237 Systema Metropolis 241 systems biology 27, 251–52 TAILORx 513 Taussig, K.-S. 28, 194 Taylor, Sandra T. 133 Tay Sachs 30 Technical University, Dresden (TUD) 83, 84 techno-science 465; element in biomedicalisation 22; transgenics 226–27 technoscientific identities 22–25, 28–30 Tekiner, Roselle 412 television 215; visual representation 224, 234, 243 Ten Eyck, T. 217n8 teratomas 235–36 terminator technology 192–93 terrorism 296, 324 Terry, S.F. 199n5 textual analysis 214, 215 thalassaemia, genetic testing in Cyprus 77, 78–81, 85, 86, 87, 88–89 theology: disability 369; eugenics 351; genetic engineering 363; stakeholder representation 191 therapeutic cloning 49, 209, 448, 451, 494 Thomasma, D.C. 278 Thompson, C. 22 1000 Genomes Project 433n3 Tilghman, Shirley M. 250, 251, 253 Tissue Culture and Art Project (TC&A) 235 tissue economy 107, 145, 494 tissue engineering 2, 8, 190, 231–37, 249, 494, 496 tissue scaffolding 231, 232–34 Tonga 302 toxicogenomics 258n1 Transcriptease 240 transgenics: animal biotechnology 384–85, 390; bioethics 323; stakeholder representation 190; visual representation 226–31 transhumanism 359–61, 363, 364 translation 497, 516; genetic testing and screening 85, 87; stakeholder representation 191, 197; stem cell research 42–55 transplant surgery 8, 47, 231–32, 401, 402, 486 Triendl, R. 309, 311 trust: biobanks 308–11, 315; reproductive genetics 64 tumour signatures 505, 512 Turner, A. 43 Turney, Jon 210–11 23andme 411
538
UCLA 233 UDHGHR 134, 276, 341–42, 457 UK Biobank 100, 307, 309, 310, 315, 455 UK Stem Cell Bank 42 UNCBD 193, 199n4, 314 uncertainty 71; animal biotechnology 387, 395; innovative genetic technology 487, 489, 494, 495, 496, 498; stakeholder representation 194–95, 197; see also risk UNCTAD 177 UNESCO Declaration on Human Genetic Data (2003) 134, 454 UNESCO, and race (1951) 430–31 UNESCO Universal Declaration on Bioethics and Human Rights 136 UNESCO Universal Declaration on the Human Genome and Human Rights (1997) 134, 276, 341–42, 457 Union of Physically Impaired Against Segregation 372 United Kingdom: agri-biotechnology 115, 118– 19, 120, 123; biobanks 302, 305, 306–7, 308, 309, 310, 312, 313, 315; bio-economy knowledge value chains 164, 165, 169–70, 171, 172, 174–76; bio-economy 145; biotechnology ‘spin-offs’ 508; disability 372; eugenics 349–50, 438–39, 440, 444; forensic DNA database 283–301; genetic engineering 353; genetic testing 490; human genetic cloning and media 203, 204, 205, 207–8, 209, 212–13; insurance 131, 132, 135; knowledge production 472, 493, 497; nutrigenomics 96; privacy 341; regulation 265, 267, 270, 273, 276, 277; reproductive genetics 60, 61, 68, 69–70; stakeholder representation 185; stem cell research 41–43, 45; thalassaemia 78, 81, 86; visual representation 237, 241 United Nations Conference on Trade and Development 177 United Nations Convention on Biological Diversity (1992) 193, 199n4, 314 United Nations Declaration on Human Cloning 452 United Nations Food and Agriculture Organisation (FAO) 192–93 United Nations Universal Declaration on Human Rights 450 United Nations University 278 United States: agri-biotechnology 111–12, 123; animal biotechnology 385, 386, 394; biobanks 302, 312, 313, 315; bio-economy knowledge value chains 165–67, 171, 172–74, 176–77; biomedicalisation 26, 29, 30; disability 373, 377–78; eugenics 350–51, 439, 440, 446; forensic DNA databases 283–84, 285, 292, 296; genetic diversity 423; genetic engineering 353, 363; genetics and commercialisation 108,
INDEX
146–47, 148, 149, 150, 152, 153, 155–56, 159; genetics and race 30; genomic platforms and hybrid formations 502–4, 505–15; human dignity 456; human genetics and cloning and media 203, 204, 206–7, 208, 209; insurance 26, 128–30, 131, 132, 133, 134, 138; knowledge production 472, 495, 496, 498; privacy 326; regulation 269, 276; reproductive genetics 60, 61, 69; stakeholder representation 185; thlassaemia 78; translational research 43, 47; visual representation 237–38 University of British Columbia 309–10 University of California 508 University of California, Berkeley, Sequence Ontology Consortium 4 University of California, Los Angeles 233 University of Wisconsin 508 Ure, J. 481 utilitarianism, and disability 368–69, 374 Vacanti, Joseph 234–35 Vail, Theodore 165 Van Dijk, José 211 Van Hoyweghen, Ine 134 Van Ommen, G.B. 470 Venter, Craig 146–47, 423 Vietnam, visual representation and GM 239–40 virtual communities 414n2 virtue ethics 321; disability 369, 374 visual representation 183, 185, 192, 222–46; future prospects 241–43; of gene 252–53; in scientific laboratories 237–41 Voluntary Genomic Data Submisson (VGDS) initiative (US) 498 Vukmirovic, Ognjenka Goga 250, 251, 253 Wacquant, Loïc J.D. 415n8 Wainwright, Steve P. 43, 45, 48, 50, 53–54 Waldby, Catherine 5, 41, 107, 145 Wambaugh, Joseph 291 Washington Consensus 164 Washington University v. Catalona 456 Watson, James 2, 209, 351 Webster, A. 42, 271, 490, 498 Weisbrot, David 322 Weiss, Paul 251–52
Weiss, Rick 230 Wellcome Trust 216n2, 309, 315, 360 Wells, H.G. 228, 242 wet biology 495 WHO 79–80, 134, 187, 455, 497 Wikipedia 502–3 Wikler, Dan 361 Wilkie, A. 488 Wilkins, Maurice 209 Willadsen, Steen 384 Willet, Jennifer 235 Williams, Clare 43, 50–51, 60, 65 Williams-Jones, B. 493 Wilmut, Ian 382 Wilson, Allan 431 Winickoff, D.E. and R.N. 307, 314, 315 Winkler, Hans 146 Winterbottom, Michael 241 Without a Trace (television programme) 243 Wittgenstein, Ludwig 253 Wolf, S.M. 269, 278 women 11, 209; health and biomedicalisation 28 WomensLink 209 Woolf, S. H. 487 Woolgar, S. 52, 425 World Health Organisation 79–80, 134, 187, 455, 497 World Medical Association 134, 456 World Trade Organisation 113, 123 Wouters, Paul 471 Wright, M. 517n4 Wroe, C. 483n13 WTO 113, 123 Xerox Parc 237 Yoxen, E. 111 Zeneca 148; see also AstraZeneca Zick, Cathleen D. 132 Zionism 410 Zoloth, Laurie 413 Zurich, Institute for Geobotanics of the ETHZ 238, 239 Zurich, University of the Arts 238, 240 Zurr, Ionat 235
539