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Clinical Genetics in Britain: Origins and Development CLINICAL GENETICS IN BRITAIN: ORIGINS AND DEVELOPMENT The transcript of a Witness Seminar held by the Wellcome Trust Centre for the History of Medicine at UCL, London, on 23 September 2008 Edited by P S Harper, L A Reynolds and E M Tansey Volume 39 2010 ©The Trustee of the Wellcome Trust, London, 2010 First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010 The Wellcome Trust Centre for the History of Medicine at UCL is funded by the Wellcome Trust, which is a registered charity, no. 210183. ISBN 978 085484 127 1 All volumes are freely available online following the links to Publications/Wellcome Witnesses at www.ucl.ac.uk/histmed CONTENTS Illustrations and credits v Abbreviations vii Witness Seminars: Meetings and publications; Acknowledgements E M Tansey and L A Reynolds ix Introduction Sir John Bell xix Transcript Edited by P S Harper, L A Reynolds and E M Tansey 1 Appendix 1 Initiatives supporting clinical genetics, 1983–99 by Professor Rodney Harris 83 Appendix 2 The Association of Genetic Nurses and Counsellors (AGNC) by Professor Heather Skirton 87 References 89 Biographical notes 113 Glossary 133 Index 137 ILLUSTRATIONS AND CREDITS Figure 1 Professor Lionel Penrose, c. 1960. Provided by and reproduced with permission of Professor Shirley Hodgson. 8 Figure 2 Dr Mary Lucas, clinical geneticist at the Galton Laboratory, explains a poster to the University of London’s Chancellor, Princess Anne, October 1981. Provided by and reproduced with permission of Professor Joy Delhanty. 9 Figure 3 (a) The karyotype of a phenotypically normal woman and (b) family pedigree, showing three generations with inherited translocation. Provided by and reproduced with permission of Professor Joy Delhanty. 11 Figure 4 Gu Wen-xiang, Professor Bette Robson, Dr David Hopkinson (Hoppy), director of the MRC human biochemical genetics unit, and Dr Joy Delhanty in the staffroom of the Galton Laboratory, 1981. Provided by and reproduced with permission of Professor Joy Delhanty. 16 Figure 5 Dr Gerald Corney and Mrs Nona Parry-Jones, Galton Laboratory, c. 1981. Provided by and reproduced with permission of Professor Sue Povey. 18 Figure 6 Dr John Fraser Roberts at the time of his election as a fellow of the Royal Society, 1964. Provided by Professor Marcus Pembrey and reproduced with permission of medical illustration, Institute of Child Health, London. 25 Figure 7 L to R: Mrs Kathleen Evans, Dr Nick Dennis and Professor Cedric Carter, 1981. Provided by and reproduced with permission of Dr Nick Dennis. 28 v Figure 8 Professor Paul Polani, 1975. Provided by Professor Peter Harper and reproduced by permission of the paediatric research unit, Guy’s Hospital, London. 33 Figure 9 Sir Cyril Clarke. Provided by and reproduced by permission of Professor Peter Harper. 37 Figure 10 Total number of published papers on human genetics, 1946–67. Provided by and reproduced with permission of Professor Alan Emery. 41 Figure 11 Invitation to discuss the formation of a group for the study of human genetics, 1958. Provided by and reproduced with permission of Professor Dian Donnai. 43 Figure 12 Professor Robin Winter, c. 1992/3. Provided by Professor Marcus Pembrey and reproduced with permission of medical illustration, Institute of Child Health, London. 46 Figure 13 Report of the Clinical Genetics Society’s Working Party, 1982. Provided by and reproduced with permission of Professor Marcus Pembrey. 53 Figure 14 Dr Hilary and Professor Rodney Harris, 2006. Provided by and reproduced with permission of Professor Peter Harper. 55 Figure 15 Dysmorphology Club meeting invitation, 1982. Provided by and reproduced with permission of Professor Dian Donnai. 64 Figure 16 Contents of the first issue ofClinical Dysmorphology, 1992. Provided by and reproduced by permission of Professor Dian Donnai. 66 Table 1 Outline programme for ‘Clinical Genetics in Britain: Origins and development’ Witness Seminar. 4 vi AbbREVIATIONS ACC Association of Clinical Cytologists AFP alpha-fetoprotein AGNC Association of Genetic Nurses and Counsellors BSHG British Society for Human Genetics CEGEN Confidential Enquiry into Genetic disorders by non-geneticists CF cystic fibrosis CGS Clinical Genetics Society CMO Chief Medical Officer CPK creatine phosphokinase DoH Department of Health DHSS Department of Health and Social Security (1968–88) DMD Duchenne muscular dystrophy GCRB Genetic Counsellor Registration Board GIG Genetics Interest Group GNSWA Genetic Nurses and Social Workers Association GOS Great Ormond Street Hospital for Children NHS Trust GPSI general practitioner with special interest GTAC Gene Therapy Advisory Committee hCG human chorionic gonadotrophin HFEA Human Fertilization and Embryology Authority HLA Human Leukocyte Antigen HPC Health Professions Council JCHMT Joint Committee for Higher Medical Training MRC Medical Research Council vii NHS National Health Service NIHR National Institute for Health Research, Leeds PGGS Primary Care Genetics Society PKU phenylketonuria RCGP Royal College of General Practitioners RCP Royal College of Physicians of London SMA spinal muscular atrophy SMD special medical development UCH University College Hospital, London UCL University College London WHO World Health Organization WNB Welsh Nursing Board viii WITNESS SEMINARS: MEETINGS AND PUBLICATIONS 1 In 1990 the Wellcome Trust created a History of Twentieth Century Medicine Group, associated with the Academic Unit of the Wellcome Institute for the History of Medicine, to bring together clinicians, scientists, historians and others interested in contemporary medical history. Among a number of other initiatives the format of Witness Seminars, used by the Institute of Contemporary British History to address issues of recent political history, was adopted, to promote interaction between these different groups, to emphasize the potential benefits of working jointly, and to encourage the creation and deposit of archival sources for present and future use. In June 1999 the Governors of the Wellcome Trust decided that it would be appropriate for the Academic Unit to enjoy a more formal academic affiliation and turned the Unit into the Wellcome Trust Centre for the History of Medicine at UCL from 1 October 2000. The Wellcome Trust continues to fund the Witness Seminar programme via its support for the Centre. The Witness Seminar is a particularly specialized form of oral history, where several people associated with a particular set of circumstances or events are invited to come together to discuss, debate, and agree or disagree about their memories. To date, the History of Twentieth Century Medicine Group has held more than 50 such meetings, most of which have been published, as listed on pages xiii–xvii. Subjects are usually proposed by, or through, members of the Programme Committee of the Group, which includes professional historians of medicine, practising scientists and clinicians, and once an appropriate topic has been agreed, suitable participants are identified and invited. This inevitably leads to further contacts, and more suggestions of people to invite. As the organization of the meeting progresses, a flexible outline plan for the meeting is devised, usually with assistance from the meeting’s chairman, and some participants are invited to ‘set the ball rolling’ on particular themes, by speaking for a short period to initiate and stimulate further discussion. Each meeting is fully recorded, the tapes are transcribed and the unedited transcript is immediately sent to every participant. Each is asked to check his or her own contributions and to provide brief biographical details. The editors 1 The following text also appears in the ‘Introduction’ to recent volumes of Wellcome Witnesses to Twentieth Century Medicine published by the Wellcome Trust and the Wellcome Trust Centre for the History of Medicine at UCL. ix turn the transcript into readable text, and participants’ minor corrections and comments are incorporated into that text, while biographical and bibliographical details are added as footnotes, as are more substantial comments and additional material provided by participants. The final scripts are then sent to every contributor, accompanied by forms assigning copyright to the Wellcome Trust. Copies of all additional correspondence received during the editorial process are deposited with the records of each meeting in archives and manuscripts, Wellcome Library, London. As with all our meetings, we hope that even if the precise details of some of the technical sections are not clear to the non-specialist, the sense and significance of the events will be understandable. Our aim is for the volumes that emerge from these meetings to inform those with a general interest in the history of modern medicine and medical science; to provide historians with new insights, fresh material for study, and further themes for research; and to emphasize to the participants that events of the recent past, of their own working lives, are of proper and necessary concern to historians. Members of the Programme Committee of the History of Twentieth Century Medicine Group, 2009–10 Professor Tilli Tansey – professor of the history of modern medical sciences, Wellcome Trust Centre for the History of Medicine at UCL (WTCHM) and chair Dr Sanjoy Bhattacharya – reader in the history of medicine, WTCHM Sir Christopher Booth – former director, Clinical Research Centre, Northwick Park Hospital, London Dr John Ford – retired general practitioner, Tonbridge Professor Richard Himsworth – former director
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