THE ETHICS OF GENETIC SCREENING

THE ETHICS OF GENETIC SCREENING

Edited by

RUTH CHADWICK

University of Central Lancashire, Centre for Professional Ethics,

Preston, Lancashire, U.K.

DARREN SHICKLE

University of Sheffield, School of Health and Related Research,

Sheffield, U.K.

HENK TEN HAVE

Catholic University of Nijmegen, School of Medical Sciences, Nijmegen, The Netherlands

and

URBAN WIESING Eberhard-Karls University,

Medical Ethics, Tubingen, Germany

SPRINGER-SCIENCE+BUSINESS MEDIA, B.V.

A C.I.P. Catalogue record for this book is available from the Library of Congress.

ISBN 978-90-481-5178-3 ISBN 978-94-015-9323-6 (eBook) DOI 10.1007/978-94-015-9323-6

Printed on acid-free paper

All Rights Reserved

© 1999 Springer Science+ Business Media Dordrecht

Originally published by Kluwer Academic Publishers in 1999 Softcover reprint of the hardcover 1st edition 1999

No part of the material protected by this copyright notice may be reproduced or

utilized in any form or by any means, electronic or mechanical, including photocopying, recording or by any information storage and

retrieval system, without written permission from the copyright owner

Contents

Contributors ix

Preface xi

The Wilson and Jungner Principles of Screening and 1 Genetic Testing

Darren Shickle

Genetic screening, information and counselling in Austria 35 Gertrud Hauser

The Belgian perspective on genetic screening 43 Kris Dierickx

Thalassemia prevention in Cyprus. Past, present and future 55 Panayiotis Ioannou

Some developments in genetic screening in Finland 69 V eikko Launis

vi

Genetic screening: Ethical debates and regulatory systems in France 75

AndreBoue

Screening in Germany: Carrier screening, pre-natal care and other screening projects 81

Traute Schroeder-Kurth

Population screening in Greece for prevention of genetic diseases 89 Caterina Metaxotou and Ariadni Mavrou

Ethics and genetic screening in the Republic of Ireland 95 Dolores Dooley

Genetic screening in the Netherlands. The state of the debate 105 Rogeer Hoedemaekers

Genetic screening and genetic services in Slovakia 119 Vladimir Ferak

Historical and social background. Introduction 129 Henk ten Have

From eugenics to genetic screening. Historical problems of 131 human genetic applications

Hans-Peter Kroner

Genetics in Germany. History and hysteria 147 Urban Wiesing

A sociological perspective on genetic screening 157 Mairi Levitt

Moral and philosophical issues. Introduction 167 Ruth Chadwick and Urban Wiesing

Genetic information and care 171 lngmarPom

Genetic testing, genetic screening and privacy 181 Judit Sandor

vii

Reconciling liberty and the common good? Genetic screening in the Republic oflreland 191

Dolores Dooley

Genetic screening and testing. A moral map 207 Rogeer Hoedemaekers

The genetic testing of children 231 Angus Clarke

Index 249

Contributors

Andre Boue is a member of the French National Committee of Ethics; Emeritus Professor of Medical Genetics, Paris V University and a Former Director of INSERM Research Unit on Genetics and Prenatal Biology. His research interests include pregnancy wastage, prenatal diagnosis, genetics and ethics in these fields.

Ruth Chadwick is Professor of Moral Philosophy and Head of the Centre for Professional Ethics at the University of Central Lancashire. She has co-ordinated several multi-disciplinary research projects funded by the European Union; Euroscreen 1 - genetic screening: ethical and philosophical perspectives and Biocult: cultural and social objections to biotechnology an analysis of the arguments, with special reference to the views of young people. She is the co-ordinator of the Euroscreen 2 project -Genetic screening and testing: toward Community policy on insurance, commercialisation and promoting public awareness. Her publications include, Kant: Critical Assessments; Ethics, Reproduction and Genetic Control; the Encyclopedia of Applied Ethics, the Right to Know and the Right not to Know and a large number of papers in learned journals. She is series editor of the Routledge series on Professional Ethics. She is a Board Member of the International Association of Bioethics, treasurer of the National Committee for Philosophy and a member of the Human Genome Organisation's (HUGO) Ethics Committee.

Angus Clarke studied genetics and clinical medicine as an undergraduate. He worked in general medicine and paediatrics, and then undertook research in clinical genetics. He is now a clinical geneticist with a special interest in neuromuscular disease, ectodermal dysplasia, Rett

X

syndrome and mental handicap. He is also interested in new-born screening programmes and in the social and ethical issues raised by the developments in genetics and biotechnology. He has edited Genetic Counselling: Practice and Principles (Routledge 1994) and Culture, Kinship and Genes (with Evelyn Parsons, Macmillan 1997), and he has co-authored Genetics, Society and Clinical Practice (with Peter Harper, Bios 1997).

Kris Dierickx is from the Centre for Biomedical Ethics and Law in the School of Medicine at the Catholic University of Leuven in Belgium and studied philosophy and moral theology. He is currently preparing a Ph.D. on the ethical aspects of the medical applications of gene technology, with particular reference to genetic testing and screening.

Dolores Dooley is a Senior Lecturer in the Philosophy Department of the National University in Cork, Ireland where she co-ordinates medical ethics and lectures in nursing ethics.

Vladimir Ferak is a Professor in the Department of Molecular Biology at Comenius University in Bratislava, Slovakia.

Gertrud Hauser is Professor of Human Biology at the Faculty of Medicine, University of Vienna. Her research has lain on the border between pathological and normal human variation. Most of it concerns morphological variation in different populations and more recently variation in body composition. She has a long-standing interest in international collaboration, travelling widely and encouraging colleagues, especially in Eastern Europe, to participate in joint research. A former president of the European Anthropological Association, she is a member of the Executive Committee of the International Union of Biological Sciences. This work has brought her face to face with the varying ethical patterns in different countries.

Henk ten Have is Professor of Medical Ethics at the School of Medical Sciences at the Catholic University of Nijmegen, The Netherlands. He is also Visiting Professor at the Centre for Professional Ethics, University of Central Lancashire. His publications include Geneeskunde tussen droom en drama (Kok Agora, 1986), The Growth of Medical Knowledge (Kluwer, 1990, edited with G. Kimsma and S. Spieker), Consensus formation in health care ethics (Kluwer, forthcoming, editor with H. M. Sass) and Ownership of the human body (Kluwer, forthcoming, edited with J.V.M. Welie). He is chief editor of Ethiek en Recht in de Gezondheidszorg (Kluwer, 1990 - 1996). He is co-founder and secretary of the European Society for Philosophy of Medicine and Health Care.

xi

Rogeer Hoedemaekers, is a moral theologian and is currently working on his Ph.D. thesis on normative determinants of genetic screening. He is researcher at the Department of Ethics, Philosophy and History of Medicine of the School of Medical Sciences of the Catholic University Nijmegen, The Netherlands, and visiting fellow at the Centre for Professional Ethics of the University of Central Lancashire, Preston, United Kingdom.

Panos Ioannou is a Senior Scientist and Leader of MGUA (Thalassaemia Group) at the Cyprus Institute of Neurology and Genetics. He is currently Principal Research Fellow in the Gene Therapy Group at the Murdoch Institute, Melbourne, Australia. He is Scientific Advisor to the Thalassaemia International Federation; a member of the American Society of Human Genetics, the European Group on Human Gene Therapy, the Human Genome Organization (HUGO) and advisor to the International Atomic Energy Agency in developing a programme on the use of radioisotopes in the prevention of genetic disorders in developing countries. His publications include: P.Trifillis, A. Kyrri, E. Kalogirou, A. Kokkofitou, P. Ioannou, E. Schwartz, S. Surrey, (1993), Analysis of delta globin gene mutations in Greek Cypriots, Blood, 82, pp. I647-I65I; P.A. Ioannou, C. Amemiya, P.M. Kroisel, J. Garnes, M. Batzer, P.J. deJong, (1994), pCYPAC-I: A new PI-derived artificial chromosome vector for cloning inserts in the range of I50-300kb in bacterial cells, Nature Genet., 6 pp. 84-89; P.loannou, A. Georghiou, E. Bashiardes, M. Kleanthous, G. Christopoulos, T. Foridou, M. Antoniou, C. Paszty, C. Chen, H. Lehrach, M. Angastiniotis, P.J. de Jong, L. T. Middleton, (I995), Sickle cell disease and thalassaemias: new trends in therapy. in Y.Beuzard, B. Lubin, J. Rosa, (eds), Colloque. Gene Therapy approaches in Thalassaemia using PI-derived artificial chromosomes (PACs) and antisense oligonucleotides, INSERM, 234, pp. I43- I44; E. Baysal, M. Kleanthous, G. Bozkurt, A. Kyrri, E. Kalogirou, M. Angastiniotis, P. Ioannou, T.H.J.Huisman, (1995), 7-thalassaemia in the population of Cyprus, Brit. J. Haematol. 89, pp. 496-499; P. Ioannou, (I996), Gene Therapy for Thalassaemia - which way forward?, Gene Therapy 3, pp. 746-747.

Hans-Peter Kroner studied medicine, history, philosophy at MUnster University, and now works as a Privatdozent at the Institute of Theory and History of MUnster University. He has published on the emigration of Jewish physicians from Nazi-Germany and on the history of eugenics and human genetics.

xii

Veikko Launis is Assistant Professor at the Department of Philosophy, University of Turko, Finland. He is also a member of the Finnish Board for Gene Technology. He is currently working on his PhD thesis dealing with philosophical and ethical aspects of genetics. He is the co-author of Doing the Decent thing with Genes (996) and Genes and Morality (forthcoming).

Mairi Levitt is a sociologist working in the Centre for Professional Ethics. She is a member of the core group of Euroscreen and was principal investigator on the Biocult project. Her research interests are in attitudes and values in relation to health, education and religion. She has recently published Nice when they are young: Contemporary Christianity in families and schools (Avebury, 1996).

Ariadni Mavrou is Assistant Professor of Genetics at Athens University. She studied biology as an undergraduate and obtained her PhD in Genetics in 1984. Her research interests are mainly in the field of cytogenetics and over the years include the study of chromosome abnormalities in recurrent abortions, childhood malignancies, as well as chromosome polymorphisms in the Greek population. She has a special interest in the investigation of Fragile X syndrome using cytogenetic and molecular techniques. Currently her research is focused on the application of molecular cytogenetics in the investigation of certain genetic disorders (Prader Willi and Angelman syndrome, Williams syndrome, Di George syndrome etc.) as well as on the isolation and analysis by in situ hybridisation of fetal cells from maternal circulation.

Caterina Metaxotou is Professor of Genetics at Athens University. She established the first Prenatal Unit for Chromosomal Abnormalities in Greece in 1975. Since 1987 the Unit also performs molecular studies for Neuromuscular disorders, Fragile X syndrome, Prader Willi and Angelman syndromes, etc. She has published over 100 original articles and abstracts in the International Press and has approximately 150 publications in Greek Medical Journals. Her main interest is in providing genetic services to the Greek people and the Genetic Unit provides Genetic counselling to over 3000 families per year. As the only Professor Medical Genetics in Greece she is currently trying to have the field of Medical Genetics recognised as a speciality and to include the subject in the basic curriculum of Greek medical students. She is also involved in the Post Graduate training programmes of Genetics for Doctors and Biologists.

xiii

Ingmar Porn is Professor of Philosophy at the University of Helsinki. In recent years he has published papers on health and disease, emotions and the meaning of life. He is currently working on the conceptual foundations of care and caring.

Judit Sandor is a lawyer, teaching at the Central European University, Budapest Political Science Department. Since 1995 she has been a member of the National Health Science Council of Hungary (Scientific, Research and Ethics Council). In 1996 she gained a Ph.D. in political science and law. Between 1996 and 1997 she was a representative of the Hungarian Patients' Rights Foundation "Szoszolo" and between 1994 and 1997 was course co-director on Human Rights and Medicine at the Inter-University Centre, Dubrovnik, Croatia. During 1993 she was a visiting scholar at the Hastings Center in New York, U.S.A.

Darren Shickle is a Clinical Senior Lecturer in Public Health Medicine at the University of Sheffield. His main research interests are the public health aspects of genetics and medical ethics. He is a member of the core group of Euroscreen, with responsibility for co-ordinating Euroscreen's work on public awareness. He was previously a 199617 Harkness Fellow, based at Johns Hopkins University (Baltimore M.D.), Georgetown University, and the Department of Health and Human Services, U.S. Federal Government (Washington D.C.). While in the USA he continued his research interests in public health ethics and he also studied clinical ethics committees and teaching ethics to health professionals. Current research interests include awareness of genetics for public and health professionals, training and education programmes in genetics for the public and health professionals, media coverage of genetics and other public health issues, the impact of genetics on health promotion, and genetic testing in the workplace.

Traute Schroeder Kurth's academic career was at the University of Heidelberg's Institute of Human Genetics. She was appointed Professor in 1974 and Director of the Department of Cytogenetics in 1975. Since her retirement in 1995 she has been Guest Professor at the University of Wlirzburg. Her research interests include: Fanconi Anemia, Cytogenetics, Prenatal Diagnosis, Genetic Counselling, Ethics.

Urban Wiesing is Chair of Medical Ethics at the University of Ttibingen. His publications include Die In-vitro-Fertilisation - ein umstrittenes Experiment (Springer, 1991, together with Christina Holze), Kunst oder Wissenschaft? Konzeption der Medizin in der deutschen Romantik (Frommann-Holzboog, 1995), Zur Verantwortung des Arztes

xiv

(Frommann-Holzboog, 1995). Together with Richard Toellner he edited Wissen - Handeln - Ethiek. Strukturen iirztlichen Hendelns und ihre ethische Relevanz (Gustav Fischer Verlag, 1995).

Preface

This collection of essays represents the work produced in the course of a three-year project funded by the Commission of the European Communities under the Biomed I programme, on the ethics of genetic screening, entitled 'Genetic screening: ethical and philosophical perspectives, with special reference to multifactorial diseases'. The short title of the project was Euroscreen, thereafter known as Euroscreen I, in the light of the fact that a second project on genetic screening was subsequently funded.

The project was multinational and multidisciplinary, and had as its objectives to examine the nature and extent of genetic screening programmes in different European countries; to analyse the social policy response to these developments in different countries; and to explore the applicability of normative ethical frameworks to the issues. The project was led by a core group who had oversight of the project and members of which have acted as editors for this volume. Darren Shickle edited the first section; Henk ten Have the second; Ruth Chadwick and Urban Wiesing the third and final part.

The volume opens with an overview of genetic screening and the principles available for addressing developments in the field, with special reference to the Wilson and Jungner principles on screening. The first of the three major sections thereafter includes papers on the state of the art in different countries, together with some analysis of social context and policy. The information contained in these chapters reflects the situation as at November 1997. The second section examines historical and sociological perspectives; the third explores the interplay between normative ethical frameworks and developments in genetics, including analyses of the challenges to our assumptions about applicability of theories and interpretation of concepts.

XV

xvi

The Euroscreen II project has taken some of these issues further, with special reference to the implications of genetic information for insurance; the potential impact of commercialisation of genetic screening and testing; and programmes for raising public awareness of the issues.

The editors thank all the participants in the project and gratefully acknowledge the support of the European Commission in funding this project under the Biomed I programme. Special thanks are due to Kerry Wilding, the Euroscreen administrator, for her work in preparing the camera-ready copy.

Ruth Chadwick Euroscreen co-ordinator