Clinical Genetics in Britain: Origins and development

Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the Wellcome Trust, London, 2010.All volumes are freely available online at: www.history.qmul.ac.uk/research/modbiomed/wellcome_witnesses/Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.Clinical genetics has become a major medical specialty in Britain since its beginnings with Lionel Penrose’s work on mental handicap and phenylketonuria (PKU) and John Fraser Robert’s first genetic clinic in 1946. Subsequent advances in diagnosis and prediction have had key impacts on families with inherited disorders and prospective parents concerned about their unborn children. The Witness Seminar focused on the beginnings of British clinical genetics in London, Oxford, Liverpool and Manchester, the development of subspecialties, such as dysmorphology, and also the roles of the Royal College of Physicians, the Clinical Genetics Society and the Department of Health in the establishment of clinical genetics as a specialty in 1980. Specialist non-medical genetic counsellors, initially from the fields of nursing and social work, progressively became a more significant part of genetic services, while lay societies also developed an important influence on services. Prenatal diagnosis became possible with the introduction of new genetic tools in regional centres to identify fetal anomalies and chromosomal disorders. This volume complements the 2001 Witness Seminar on genetic testing which emphasizes laboratory aspects of medical genetics, with limited coverage of clinical genetics. Participants include: Ms Chris Barnes, Dr Caroline Berry, Professor Martin Bobrow (chair), Professor Sir John Burn, Dr Ian Lister Cheese, Professor Angus Clarke, Dr Clare Davison, Professor Joy Delhanty, Dr Nick Dennis, Professor Dian Donnai, Professor Alan Emery, Professor George Fraser, Mrs Margaret Fraser Roberts, Professor Peter Harper, Dr Hilary Harris, Professor Rodney Harris, Professor Shirley Hodgson, Dr Alan Johnston, Mrs Ann Kershaw, Mrs Lauren Kerzin-Storrar, Professor Michael Laurence, Professor Ursula Mittwoch, Professor Michael Modell, Professor Marcus Pembrey, Professor Sue Povey, Professor Heather Skirton, Professor Sir David Weatherall. Harper P A, Reynolds L A, Tansey E M. (eds) (2010) Clinical genetics in Britain: Origins and development. Wellcome Witnesses to Twentieth Century Medicine, vol. 39. London: The Wellcome Trust Centre for the History of Medicine at UCL.The Wellcome Trust Centre for the History of Medicine at UCL is funded by the Wellcome Trust, which is a registered charity, no. 210183

Diagnostic Decision Support System in Genetic Diseases: The FaceGP DDSS

A great number of genetic disorders indicating a characteristic pattern of facial anomalies can be typically identified by analysing specific features with the aid of facial image processing methods. This study proposes a novel computer-assisted and cost-effective method by merging several methods in the characterization of the facial dysmorphology, in particular a method relying primary on face image capture and manipulation to diagnose genetic diseases

Machine Learning Based Genetic Decision Making Methodology Using Genotype-Phenotype Mapping

A methodology titled "Dynamic Selection of Essential Similar Principal Components" is presented in this study. This methodology evaluates the similarities while omitting the differences among features to accommodate for all possible similarities caused by genes. It has been tested on real data set collected from the dysmorphic facial images published in scholarly journals, thus accounting decent diagnostic information about the syndrome. The methodology has been tested with 15 different syndromes that accommodate 5 examples per syndrome. It can be concluded based on the results that a great number of syndromes indicating a characteristic pattern of facial anomalies can be typically diagnosed by employing the approach we propose in this study

Clinical genetics in Britain: origins and development

Clinical genetics has become a major medical specialty in Britain since its beginnings with Lionel Penrose’s work on mental handicap and phenylketonuria (PKU) and John Fraser Robert’s first genetic clinic in 1946. Subsequent advances in diagnosis and prediction have had key impacts on families with inherited disorders and prospective parents concerned about their unborn children. The Witness Seminar focused on the beginnings of British clinical genetics in London, Oxford, Liverpool and Manchester, the development of subspecialties, such as dysmorphology, and also the roles of the Royal College of Physicians, the Clinical Genetics Society and the Department of Health in the establishment of clinical genetics as a specialty in 1980. Specialist non-medical genetic counsellors, initially from the fields of nursing and social work, progressively became a more significant part of genetic services, while lay societies also developed an important influence on services. Prenatal diagnosis became possible with the introduction of new genetic tools in regional centres to identify fetal anomalies and chromosomal disorders. This volume complements the 2001 Witness Seminar on ‘genetic testing’, which emphasizes laboratory aspects of medical genetics, with limited coverage of clinical genetics. Participants include: Ms Chris Barnes, Dr Caroline Berry, Professor Martin Bobrow (chair), Professor Sir John Burn, Dr Ian Lister Cheese, Professor Angus Clarke, Dr Clare Davison, Professor Joy Delhanty, Dr Nick Dennis, Professor Dian Donnai, Professor Alan Emery, Professor George Fraser, Mrs Margaret Fraser Roberts, Professor Peter Harper, Dr Hilary Harris, Professor Rodney Harris, Professor Shirley Hodgson, Dr Alan Johnston, Mrs Ann Kershaw, Mrs Lauren Kerzin-Storrar, Professor Michael Laurence, Professor Ursula Mittwoch, Professor Michael Modell, Professor Marcus Pembrey, Professor Sue Povey, Professor Heather Skirton, Professor Sir David Weatherall

The Role of the European Society of Human Genetics in Delivering Genomic Education

From Frontiers via Jisc Publications RouterHistory: collection 2021, received 2021-04-12, accepted 2021-07-22, epub 2021-09-03Publication status: PublishedThe European Society of Human Genetics (ESHG) was founded in 1967 as a professional organisation for members working in genetics in clinical practice, research and education. The Society seeks the integration of scientific research and its implementation into clinical practice and the education of specialists and the public in all areas of medical and human genetics. The Society works to do this through many approaches, including educational sessions at the annual conference; training courses in general and specialist areas of genetics; an online resource of educational materials (EuroGEMS); and a mentorship scheme. The ESHG Education Committee is implementing new approaches to expand the reach of its educational activities and portfolio. With changes in technology, appreciation of the utility of genomics in healthcare and the public’s and patients’ increased awareness of the role of genomics, this review will summarise how the ESHG is adapting to deliver innovative educational activity

The gene, the clinic and the family: Diagnosing dysmorphology, reviving medical dominance

This book is rather like the clinic, a space of crossing and translation, between medical sociology and science studies, both anthropological and sociological. Thus the book draws attention to and helps deconstruct the dichotomy between the laboratory and the clinic, and between science and medicine. The book draws on 25 years as a medical sociologist, researching acute medicine, primary care, accident and emergency, intensive care, paediatric genetics, geriatric medicine and biomedical science. My ‘ethnographic’ immersion in medicine and health care practice, however, began earlier by working for ten years in the British National Health Service, as a cleaner and nursing auxiliary in a geriatric hospital before I trained and practiced as a nurse and ward sister in both acute and primary care settings. While my close reading of the discourses of science and medicine owes much to my original training in English at the University of London, I have tried never to lose my grounding in everyday practice, my experiences with patients and that eye for detail that served me so well in those early days. The core research material comes from a longitudinal study of an evolving discursive practice in medical genetics known as dysmorphology. This is the study of abnormal forms, historically called congenital abnormalities. Thus the analysis of the book locates itself in those effects in persons identified as "existing from birth" and as relating to genitus, or "begetting". As it happens, dysmorphology’s roots are in paediatrics and the objects and subjects of clinical practice are mainly children and their families. Indeed many clinical geneticists I met were trained in paediatrics and the underpinning discourses in the clinic are the science of growth and form in humans, such as embryology, and conceptions of child development. Critically, dysmorphology is concerned with the description and recognition of ‘syndromes’. At the time of the study there were over 3,000 syndromes recorded in databases, and many of these descriptions were still in the making. So the book is to some extent about shape and form in contemporary medicine; and, further, how deviations from normal human development are being identified and named. ‘Dysmorph’ literally means misshapen, and is concerned with begetting when the coming together of processes of reproduction go wrong and do so in ways that produce abnormal forms. It should be noted that these syndromes typically involve very small numbers of people, and come under the new rubric rare disorders. Consequently, the availability of molecular and cytogenic tests was limited. The field of dysmorphology is also emerging at a time, the first decade of the new millenium, when biological understandings of the genetic and the congenital are changing and shifting. Hence dysmorphology is also busy relocating in relation to those understandings. Like biology, and no doubt because of its direct links to the biology of human development (specifically growth and form), dysmorphology is becoming more and more engrossed in the correlations between the genetic and deviations in growth and form. In so doing, dysmorphologists claim to be helping to shape the science of human development. So the first story I have to tell is about how the relations between medicine and science, the clinic and the gene, are in the process of being constructed in dysmorphology and in genetic medicine. We might think these syndromes may simply re-present difference – difference in one set of children and their parents from another; that where these differences are associated with pathology and reconstituted as problematic, what we have is a case study of abnormality or deviation that walks the tightrope of identity politics. What emerges however is how the genetics of normal human development relies on this mapping of deviations in growth and form, with the observation and description of congenital abnormality. So much so, that what seems to be evident is that it is the normal that is itself shrinking. So that, as one geneticist put it to me: from his perspective, we all have a syndrome. But what is so extraordinary is how in these new kinds of medical entities, syndromes, something so tiny as genetic mutation is being held responsible for the extraordinary disruption seen in some children’s physical and intellectual growth and development, and across so many of their bodies systems. This brings me to the second story I have to tell, which is about how we are all becoming drawn into these studies on growth and form and how the findings in dysmorphology are likely to affect choice of partners and alter decisions about procreation in the future. The critical issue is thus of grasping the significance of these imaginaries – syndromes and other forms of classification - through which forms of life get constituted as malformations; and, further, understanding when and why they bother us, literally and conceptually. What matters is what we do with these imaginaries, particularly in terms of ideas of family and relatedness, of personhood and conceptions of what it is to be human. A third story concerns my interest in how medical power works. What I help to show, contrary to the predictions of other observers, is how medicine is retaining its dominance in society partly through the clinic. In a large part this has involved me in recognising that the power of medicine rests not so much in its ability to help generate cures – important as these discoveries are – but rather in its sticking to classification and the method of doubt as forming the twin bases of science. What I hope to show is that medical power works as much through deferral as decision; and that this is what helps to retain the clinic – with its intimate links to the family - as the final arbiter

Genetic Testing in Emerging Economies (GenTEE)

Drivers, barriers and opportunities for genetic testing services in emerging economies: the GenTEE (Genetic Testing in Emerging Economies) project Background: Due to the epidemiological transition in the emerging economies of China, East Asia, India, Latin America, the Middle East and South Africa, these economies are facing (i) an increasing proportion of morbidity and mortality due to congenital and genetic conditions, (ii) a rising need for genetic services to improve patient outcomes and overall population health. These economies are facing the challenge how: (i) to ensure the successful translation of genetic/genomics laboratory and academic research into quality assured pathways, (ii) to develop a service delivery infrastructure that leads to equitable and affordable access to high quality genetic/genomic testing services. Objectives: (i) to document and compare current practices and the state of genetic service provision in eight emerging economies: Argentina, Brazil, China, Egypt, India, Oman, Philippines and South Africa, (ii) to identify current knowledge gaps and unmet service needs. The GenTEE international project is intended to inform policy decisions for the challenges of delivering equitable high quality genetic services and to promote international collaboration for capacity building. Methods: (i) a standardized survey that is the first of its worldwide that allows comparison of services internationally across a number of key dimensions by using a core set of indicators, selected by the GenTEE consortium for their relevance and comparability, (ii) capacity building demonstration projects. To date, the GenTEE project has completed its survey that maps the current state of genetic services in the participating countries and identifies current drivers, barriers and opportunities for genetic services development. Results: There is no equitable access to genetic services in all countries mainly due to financial barriers (underfunded fragmented public services, out-of-pocket expenses tend to be the norm for genetic testing services), geographical barriers (concentration of services in main cities) and skill gaps, resulting in inequitable services or delayed access. The development of services in the private sector is opportunistic and mostly technology and market driven. There is a marked lack of standard operating procedures and agreed quality assessment processes for new technologies. Discussion: International collaborative networks can provide support for capacity building and help to strengthen the provision of quality genetic/genomic services in emerging economies.JRC.I.1-Chemical Assessment and Testin