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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 concer...
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... there's nobody twitching to that extent? Let's move on to Lionel Penrose ( Figure 1) and the Galton Lab. I was hoping that Sue Povey would start. ...
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... took a current textbook on medical genetics and waved it in the air: 'All you need to do is read this, but get your Membership first.' 97 I think in those days we were trying to get people to be card-carrying physicians or surgeons and then to become geneticists. Of course, the picture has changed now, but that was how it was in the early 1960s ( Figure 10). I owe a great deal to Cyril, even though he got me carting those damned great boxes about from Liverpool to Manchester to collect Biston betularia (the peppered moth). ...
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... See, for example, Kettlewell (1956). 1950 1955 1960 1965 1967 donnai: In looking through the archives of medical genetics in Manchester, I came across a letter dated 22 November 1958 and signed by Robert Platt, regarding the formation of a group for the study of human genetics ( Figure 11). He talked about it being his intention to do this, and he said that as he was shortly to give up the chair of medicine, he hoped to have more time to devote to this kind of work, and that his appointment as chairman of the recently constituted MRC committee on human genetics should enable him to keep in touch. ...
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... in 1981, I think, when John Burn was there, we had this half-day meeting and wider participation from other centres was encouraged. By 1982 it was so popular that this was a whole-day meeting and I've got records of John's invitation to the meeting asking for £1 from all participants for tea, coffee, biscuits and photocopying ( Figure 15). ...
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... renamed it the Winter-Baraitser Dysmorphology Database and this is now distributed by Michael. 163 There's also the journal, Clinical Dysmorphology, which is in the colour that Robin chose and we always used to call 'dysmorphology pink' (Figure 16). After Robin died, Jill Clayton-Smith joined me, so Jill and I are the editors now, although Michael still supports us. ...
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... was appointed CBE in 1996 and has been emeritus professor of medical genetics in Manchester since 1997. See Figure 14. FRS (1897FRS ( -1991, medical statistician, was professor of medical statistics at the London School of Hygiene and Tropical Medicine (1945-61). ...
Citations
... Se considerarmos agora o lado dos profi ssionais de saúde implicados na " administração racional do risco " , os geneticistas se defendem contra as acusações que recebem frequentemente – que praticam um tipo de eugenia – lembrando que esse termo implicaria necessariamente a vontade de manipular a reserva de genes de uma população determinada. Na nova genética clínica, eles dizem se fundamentar na liberdade de escolha das famílias e não visam nenhuma intervenção para infl uenciar a frequência de genes em uma dada população (Harper; Reynolds; Tansey, 2010; Paul, 1995; Schwartz, 2008). Depois do fi m das utopias eugenistas que marcaram a medicina durante o período entre as duas guerras (e, lembremos, não era só nos países autoritários tais como a Alemanha nacional-socialista), é inegável que a quase totalidade dos geneticistas abandonou toda pretensão de eliminar a reserva de " maus genes " . ...
This article aims at analyzing the factors that mold the material cultures of contemporary biomedicine. It considers the historical development of diagnostic techniques, how they define the "norm", and influence the evolution of conducts of professionals as well as those of concerned members of the family. Following a brief reconstruction of the historical evolution of pre-natal diagnostics, we present a detailed case analysis of a particular anomaly: aneuploidy of the sexual chromosomes (ACS). Although some cases of ACS may represent grave and even life-threatening deficiencies, the great majority of children who possess an abnormal number of sexual chromosomes experience relatively minor problems. In many cases, the very diagnostic of ACS only surfaces during the person's adolescence. Thus, especially in contexts that permit legal abortion, the prenatal diagnosis of these syndromes renders visible the construction of the "abnormal fetus" and the "risk of having an abnormal child", as a techno-social phenomenon that emerges over time through the interaction of biomedical techniques, the organization of medical work, legal limitations, and sociocultural considerations.
In the 1960s and '70s, it was generally assumed that reproductive choices have social consequences and thus are a matter of social concern. Socially-responsible reproductive behavior, in turn, was assumed to entail minimizing the risk of transmitting grave genetic diseases. Over time, such a view came increasingly to be labelled "eugenics," a term that would in much of the world acquire strongly negative connotations. By the 1990s, the old view had been largely replaced in the West by the tenet that procreation is a private matter, and that there are no right or wrong reproductive decisions. The primary aim of this essay is to explain and interpret this transformation, which was largely a product of the 1980s. Drawing on social-norms theory, which assumes that norms are always to some degree contested, it asks how those with an interest in changing prevailing attitudes were able to achieve such apparent rapid success.
A series of 100 recorded interviews with human and medical geneticists has been carried out and some general results are reported here. Twenty countries across the world are represented, mostly European, with a particular emphasis on the United Kingdom. A priority was given to older workers, many of whom were key founders of human genetics in their own countries and areas of work, and over 20 of whom are now no longer living. The interviews also give valuable information on the previous generation of workers, as teachers and mentors of the interviewees, thus extending the coverage of human genetics back to the 1930s or even earlier. A number of prominent themes emerge from the interview series; notably the beginnings of human cytogenetics from the late 1950s, the development of medical genetics research and its clinical applications in the 1960s and 1970s, and more recently the beginnings and rapid growth of human molecular genetics. The interviews provide vivid personal portraits of those involved, and also show the effects of social and political issues, notably those arising from World War 2 and its aftermath, which affected not only the individuals involved but also broader developments in human genetics, such as research related to risks of irradiation. While this series has made a start in the oral history of this important field, extension and further development of the work is urgently needed to give a fuller picture of how human genetics has developed.
