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Clinical Molecular Genetics in the Uk C.1975–C.2000 CLINICAL MOLECULAR GENETICS IN THE UK c.1975–c.2000 The transcript of a Witness Seminar held by the History of Modern Biomedicine Research Group, Queen Mary, University of London, on 5 February 2013 Edited by E M Jones and E M Tansey Volume 48 2014 ©The Trustee of the Wellcome Trust, London, 2014 First published by Queen Mary, University of London, 2014 The History of Modern Biomedicine Research Group is funded by the Wellcome Trust, which is a registered charity, no. 210183. ISBN 978 0 90223 888 6 All volumes are freely available online at www.history.qmul.ac.uk/research/modbiomed/ wellcome_witnesses/ Please cite as: Jones E M, Tansey E M. (eds) (2014) Clinical Molecular Genetics in the UK c.1975–c.2000. Wellcome Witnesses to Contemporary Medicine, vol. 48. London: Queen Mary, University of London. CONTENTS What is a Witness Seminar? v Acknowledgements E M Tansey and E M Jones vii Illustrations and credits ix Abbreviations xi Ancillary guides xiii Introduction Professor Bob Williamson xv Transcript Edited by E M Jones and E M Tansey 1 Appendix 1 Photograph, with key, of delegates attending The Molecular Biology of Thalassaemia conference in Kolimbari, Crete, 1978 88 Appendix 2 Extracts from the University of Leiden postgraduate course Restriction Fragment Length Polymorphisms and Human Genetics, 1982 91 Appendix 3 Archival material of the Clinical Molecular Genetics Society 95 Biographical notes 101 References 113 Index 131 Witness Seminars: Meetings and Publications 143 WHAT IS A WITNESS SEMINAR? The Witness Seminar is a specialized form of oral history, where several individuals associated with a particular set of circumstances or events are invited to meet together to discuss, debate, and agree or disagree about their memories. The meeting is recorded, transcribed and edited for publication. This format was first devised and used by the Wellcome Trust’s History of Twentieth Century Medicine Group in 1993 to address issues associated with the discovery of monoclonal antibodies. We developed this approach after holding a conventional seminar, given by a medical historian, on the discovery of interferon. Many members of the invited audience were scientists or others involved in that work, and the detailed and revealing discussion session afterwards alerted us to the importance of recording ‘communal’ eyewitness testimonies. We learned that the Institute for Contemporary British History held meetings to examine modern political, diplomatic and economic history, which they called Witness Seminars, and this seemed a suitable title for us to use also. The unexpected success of our first Witness Seminar, as assessed by the willingness of the participants to attend, speak frankly, agree and disagree, and also by many requests for its transcript, encouraged us to develop the Witness Seminar model into a full programme, and since then more than 50 meetings have been held and published on a wide array of biomedical topics.1 These seminars have proved an ideal way to bring together clinicians, scientists, and others interested in contemporary medical history to share their memories. We are not seeking a consensus, but are providing the opportunity to hear an array of voices, many little known, of individuals who were ‘there at the time’ and thus able to question, ratify or disagree with others’ accounts – a form of open peer-review. The material records of the meeting also create archival sources for present and future use. The History of Twentieth Century Medicine Group became a part of the Wellcome Trust’s Centre for the History of Medicine at UCL in October 2000 until September 2010. It has been part of the School of History, Queen Mary, University of London, since October 2010, as the History of Modern Biomedicine Research Group, which the Wellcome Trust funds principally 1 See pages 143–8 for a full list of Witness Seminars held, details of the published volumes and other related publications. v under a Strategic Award entitled ‘The Makers of Modern Biomedicine’. The Witness Seminar format continues to be a major part of that programme, although now the subjects are largely focused on areas of strategic importance to the Wellcome Trust, including the neurosciences, clinical genetics, and medical technology.2 Once an appropriate topic has been agreed, usually after discussion with a specialist adviser, suitable participants are identified and invited. As the organization of the seminar progresses and the participants’ list is compiled, a flexible outline plan for the meeting is devised, with assistance from the meeting’s designated chairman/moderator. Each participant is sent an attendance list and a copy of this programme before the meeting. Seminars last for about four hours; occasionally full-day meetings have been held. After each meeting the raw transcript is sent to every participant, each of whom is asked to check his or her own contribution and to provide brief biographical details for an appendix. The editors incorporate participants’ minor corrections and turn the transcript into readable text, with footnotes, appendices and a bibliography. Extensive research and liaison with the participants is conducted to produce the final script, which is then sent to every contributor for approval and to assign copyright to the Wellcome Trust. Copies of the original, and edited, transcripts and additional correspondence generated by the editorial process are all deposited with the records of each meeting in the Wellcome Library, London (archival reference GC/253) and are available for study. For all our volumes, we hope that, even if the precise details of the more technical sections are not clear to the non-specialist, the sense and significance of the events will be understandable to all readers. Our aim is that the volumes inform those with a general interest in the history of modern medicine and medical science; provide historians with new insights, fresh material for study, and further themes for research; and emphasize to the participants that their own working lives are of proper and necessary concern to historians. 2 See our Group’s website at http://www.history.qmul.ac.uk/research/modbiomed (visited 13 August 2013). vi AcKNOWLEDGEMENTS This Witness Seminar is held under the auspices of our current Wellcome Trust Strategic Award ‘The Makers of Modern Biomedicine’. While building on the style and success of our previous meetings and volumes (listed on pages 143–8), we are now focusing on five main themes in contemporary biomedicine, one of which is clinical genetics (details at http://www.history.qmul.ac.uk/research/modbiomed/ index.html). Professor Peter Harper is our expert adviser on this part of the project, and the theme of clinical molecular genetics is one we have been discussing for some time. Peter has advised us on suitable participants, as have Professor Andrew Read and Professor Martin Bobrow; the latter also chaired the resultant meeting. We are most grateful to them all for their input. We also thank Professor Bob Williamson for writing the introduction for this volume. Professor Bert Bakker, Dr Fiona Macdonald and Dr John Old all generously provided archival material for reproduction in the appendix for which we are very grateful. Mr Laz Lazarou also gave material that will be deposited in the Wellcome Library with the records of this meeting. Thanks are also due to Professor Marcus Pembrey who commented on the final proof transcript. As with all our meetings, we depend a great deal on Wellcome Trust staff to ensure their smooth running: the Audiovisual Department, Catering, Reception, Security and Wellcome Images. We thank Mr Akio Morishima for the design and production of this volume; the indexer Ms Liza Furnival; Mrs Sarah Beanland and Ms Fiona Plowman for proofreading; Mrs Deborah Gee for transcribing the seminar; Ms Caroline Overy for assisting with running the seminar and Mr Adam Wilkinson who assisted in the organization and running of the meeting. Finally, we are most grateful to the Wellcome Trust for supporting this research programme. Tilli Tansey Emma Jones School of History, Queen Mary, University of London vii ILLUSTRATIONS AND CREDITS* Figure A Professor Bob Williamson; reproduced with his permission. xviii Table 1 Original outline programme for the seminar 6 Figure 1 Professor Tilli Tansey 3 Figure 2 Professor Martin Bobrow 4 Figure 3 Professor Malcolm Ferguson-Smith, Professor Peter Harper 5 Figure 4 Professor Andrew Read, Professor Peter Harper 7 Figure 5 Professors Julian Sampson, Bert Bakker, John Yates 10 Figure 6 Title page, laboratory manual for course Restriction Fragment Length Polymorphisms and Human Genetics, University of Leiden, 1982; reproduced with permission from Professor Bert Bakker. 12 Figure 7 Professor Marianne Schwartz, Dr John Philip; reproduced with permission from Professor Bert Bakker, University of Leiden. 13 Figure 8 Dr John Old 14 Figure 9 Professor Sir David Weatherall 16 Figure 10 Professor Bernadette Modell 22 Figure 11 Professor John Yates 30 Figure 12 Dr Rob Elles 33 Figure 13 Dr Helen Middleton-Price 40 * Unless otherwise stated, all photographs were taken by Ben Gilbert, Wellcome Trust, and reproduced courtesy of the Wellcome Library, London. ix Figure 14 Professor Patricia Jacobs; reproduced with her permission. 45 Figure 15 Mr Laz Lazarou 46 Figure 16 Dr Linda Meredith 47 Figure 17 Professor Julian Sampson 49 Figure 18 Dr Fiona Macdonald 54 Figure 19 Professor Malcolm Ferguson-Smith 59 Figure 20 Dr Rosalind Skinner 66 Figure 21 Dr Ian Lister Cheese 69
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