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Genetic Screening: a Supplement to the 1993 Report by the Nuffield Council on Bioethics Published by Nuffield Council on Bioethics 28 Bedford Square London WC1B 3JS

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Genetic Screening: a Supplement to the 1993 Report by the Nuffield Council on Bioethics Published by Nuffield Council on Bioethics 28 Bedford Square London WC1B 3JS Genetic Screening: a Supplement to the 1993 Report by the Nuffield Council on Bioethics Published by Nuffield Council on Bioethics 28 Bedford Square London WC1B 3JS Telephone: 020 7681 9619 Fax: 020 7637 1712 Email: [email protected] Website: http://www.nuffieldbioethics.org ISBN 1 904384 13 7 July 2006 © Nuffield Council on Bioethics 2006 All rights reserved. Apart from fair dealing for the purpose of private study, research, criticism or review, no part of the publication may be produced, stored in a retrieval system or transmitted in any form, or by any means, without prior permission of the copyright owners. Production management by: The Clyvedon Press Ltd 95 Maes-y-Sam Pentyrch Cardiff CF15 9QR Nuffield Council on Bioethics Professor Sir Bob Hepple QC, FBA (Chairman) Professor Margaret Brazier OBE* Professor Roger Brownsword Professor Sir Kenneth Calman KCB FRSE The Rt Rev Richard Harries DD FKC FRSL Professor Peter Harper Professor Søren Holm Mr Anatole Kaletsky Dr Rhona Knight Professor Sir John Krebs FRS* Professor Peter Lipton Professor Hugh Perry Professor Lord Plant of Highfield Professor Peter Smith CBE Professor Dame Marilyn Strathern FBA Dr Alan Williamson FRSE * co-opted members of the Council for the period of chairing the Working Parties on Critical Care Decisions in Fetal and Neonatal Medicine: Ethical issues and Public Health: Ethical issues Secretariat Dr Sandy Thomas (Director) Dr Catherine Moody Mr Harald Schmidt Ms Carol Perkins Ms Catherine Joynson Ms Caroline Rogers Mrs Julia Trusler Mrs Audrey Kelly-Gardner The terms of reference of the Council are: 1 to identify and define ethical questions raised by recent advances in biological and medical research in order to respond to, and to anticipate, public concern; 2 to make arrangements for examining and reporting on such questions with a view to promoting public understanding and discussion; this may lead, where needed, to the formu- lation of new guidelines by the appropriate regulatory or other body; 3 in the light of the outcome of its work, to publish reports; and to make representations, as the Council may judge appropriate. The Nuffield Council on Bioethics is funded jointly by the Medical Research Council, the Nuffield Foundation and the Wellcome Trust iii Foreword The Council’s first Report on Genetic Screening: Ethical issues was published in 1993. Since then, there have been major developments in science and policy in the field of genetics. A small Working Group was therefore established by the Council to consider whether these changes raised ethical issues relating to genetic screening which merited further study. The Group concluded that the commissioning of a new Working Party would be premature and that the ethical principles identified in the 1993 Report remained relevant for guiding current research and practice. However, the Council was presented with something of a dilemma. Although the original Report is over ten years old, approximately 20,000 copies continue to be downloaded from our website each year. The Council has therefore decided to publish this Supplement with the aim of bringing the original Report up to date by taking account of the changing context. In doing so, we have not attempted to provide a detailed account of the scientific advances which have occurred since 1993 or review the ethical issues identified in the 1993 Report. We are assuming that most of our readers will have some familiarity with genetics. Even so, we have tried to avoid overly technical terminology and have included a glossary to provide defini- tions of some of the terms that we use. For brevity, some of the introductory sections that readers found helpful in the 1993 Report have been omitted. The Council is indebted to the members of the Working Group that reviewed recent developments in genetic screening and whose advice led to the publication of this Supplement. The project would not have been possible without the continuing dedication and support of the Secretariat. Professor Sir Bob Hepple QC, FBA Chairman iv Acknowledgements The Council would like to thank Dr Muir Gray, Professor Ann-Louise Kinmouth, Dr Kathy Liddell, Professor Andrew Read, Dr Simon Sanderson and Mr Geoff Watts, who all reviewed an earlier draft of the Supplement. We are also grateful to Dr Neil Manson, Professor Martin Richards, Dr Rosalind Skinner and Professor Carol Dezateux who provided advice on specific issues. We would also like to thank those individuals within the Department of Health, the Human Genetics Commission, the Royal College of Physicians, the Information Commissioner’s Office and other bodies, who helped us to verify information. Finally we thank Nicola Perrin, previous member of the Secretariat, and Tom McBride, an intern at the Council, for their valuable work. v Members of the Working Group Professor Elizabeth Anionwu Member of the Working Party on Genetic Screening (1993) Professor of Nursing, Head of Mary Seacole Centre for Nursing Practice, Thames Valley University Professor Martin Bobrow Head of Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge Professor Neva Haites Professor in Medical Genetics and Associate Dean (Clinical), University of Aberdeen Professor Peter Harper Member of Nuffield Council on Bioethics and Member of the Working Party on Genetic Screening (1993) University Research Professor in Human Genetics, Cardiff University David Shapiro Former Executive Secretary of Nuffield Council on Bioethics Terms of reference 1. To identify developments in the area of genetic screening since the publication of the Council’s Report (1993), with particular reference to the Genetics White Paper published in June 2003. 2. To consider whether any further action is required and to produce a short paper. vi Table of contents Council membership and terms of reference ........................................................iii Foreword..................................................................................................................iv Acknowledgements ................................................................................................v Members of the Working Group ............................................................................vi Chapter 1: Introduction............................................................................................1 Chapter 2: Genetic technologies: Advances and applications ..............................6 Introduction ........................................................................................................................................7 Technological approaches in human genetics ..................................................................................7 The Human Genome Project ..........................................................................................................7 Understanding genetic variation....................................................................................................7 Mapping genes/association studies ................................................................................................8 Capabilities in high-throughput testing ........................................................................................9 Bioinformatics..................................................................................................................................9 Biobanks ........................................................................................................................................10 Advances in our understanding of genetics ....................................................................................10 Applications: Genetic screening for multifactorial diseases ..........................................................12 Applications: Genetic screening for non-disease traits ..................................................................12 Genes influencing normal behaviour ..........................................................................................12 Pharmacogenetics: Genes influencing responses to medicines ..................................................13 Chapter 3: Genetic screening programmes in the UK..........................................14 Introduction ......................................................................................................................................15 The National Screening Committee (NSC) ......................................................................................15 Developments in genetic screening programmes since 1993 ........................................................16 Screening for monogenic disorders: implications of identifying carrier status ........................19 Our Inheritance, Our Future: the Genetics White Paper (2003) ....................................................20 Implementation of national screening for inherited blood disorders (haemoglobinopathies) ................................................................................................................20 Enhancement of existing screening for Down’s syndrome and deafness ..................................21 Screening for multifactorial diseases............................................................................................21 Genetic profiling at birth ..............................................................................................................21 Chapter 4: Delivery of genetic screening services ..............................................22
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