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

2010·1 MB·English

by  Harper, Peter S

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 at: www.history.qmul.ac.uk/research/modbiomed/wellcome_witnesses/

Please cite as : Reynolds L A, Tansey E M. (eds) (2010) Clinical Genetics in Britain: Origins
and development. Wellcome Witnesses to Twentieth Century Medicine, vol. 39. London: Wellcome Trust Centre
for the History of Medicine at UCL.
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 of Clinical 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 of the Institute of Health,
University of Cambridge
professor mark Jackson – professor of the history of medicine and director,
Centre for Medical History, Exeter
professor John pickstone – Wellcome research professor, University of Manchester
mrs lois reynolds – senior research assistant, WTCHM, and organizing secretary
professor lawrence Weaver – professor of child health, University of Glasgow, and
consultant paediatrician in the Royal Hospital for Sick Children, Glasgow
x