Coventry P A, Pickstone J V
University of Manchester, Wellcome Unit of History of Medicine, UK.
Soc Sci Med. 1999 Nov;49(9):1227-38. doi: 10.1016/s0277-9536(99)00162-8.
The history of genetics has concentrated on eugenics in the first half of the 20th century and molecular genetics in the second. There is yet little historical analysis of the emergence of genetics as a medical specialism, even for the USA. This paper explores the creation of a regional genetic service in Manchester, UK. It surveys the ways in which hereditary diseases were managed and investigated in the first two decades of the NHS (1948-68), and the marginality of geneticists in this period. It suggests that the emergence of consultant geneticists as conspicuous service specialists depended heavily on their ability to create and control laboratory and counselling services for antenatal diagnosis, especially of Down's syndrome, from the late 1960s. These services, for syndromes that were not strongly hereditary, helped extend the meaning of 'genetic' in medicine from 'hereditary' to 'related to chromosomes and genes'. The services received government support because of popular demand for diagnoses (following the Abortion Act of 1967), because 'preventive services' were seen as cost effective, and because geneticists could argue that inadequate counselling might give rise to legal difficulties. By linking laboratory services and counselling, geneticists offered an integrated service, in line with other consultant-led services (e.g. for kidneys) which linked research, laboratory services, clinical work, and education/public health functions. We suggest such services fitted the hospital-dominated political economy of medicine which underlay the NHS re-organisation of 1974; and that the salience of the new genetics owed much to this combination of high-science and public concern. Geneticists were then able to integrate molecular genetics into key regional centres, so shaping the initial phases of the 'molecular' revolution. We maintain that this local study offers useful wider insights, not only into the development of a key specialism, but also into the changing dynamics of research and policy in the NHS.
遗传学的历史在20世纪上半叶主要聚焦于优生学,下半叶则集中在分子遗传学。即便在美国,对于遗传学作为一门医学专科的兴起,也鲜有历史分析。本文探讨了英国曼彻斯特地区遗传服务的创立。它审视了国民保健服务体系头二十年(1948 - 1968年)中遗传性疾病的管理与研究方式,以及这一时期遗传学家所处的边缘地位。研究表明,顾问遗传学家作为引人注目的服务专家的出现,在很大程度上依赖于他们从20世纪60年代末开始为产前诊断(尤其是唐氏综合征诊断)创建和控制实验室及咨询服务的能力。这些针对并非强遗传性综合征的服务,帮助将医学中“遗传的”含义从“遗传的”扩展到“与染色体和基因相关的”。由于民众对诊断的需求(继1967年《堕胎法案》之后)、“预防服务”被视为具有成本效益,以及遗传学家认为咨询不足可能引发法律问题,这些服务获得了政府支持。通过将实验室服务与咨询相结合,遗传学家提供了一项综合服务,这与其他由顾问主导的服务(如肾脏相关服务)类似,后者将研究、实验室服务、临床工作以及教育/公共卫生功能联系起来。我们认为,此类服务契合了主导医院的医学政治经济模式,这也是1974年国民保健服务体系重组的基础;新遗传学的突出地位很大程度上归功于这种高科技与公众关注的结合。遗传学家随后能够将分子遗传学整合到关键的地区中心,从而塑造了“分子”革命的初始阶段。我们坚持认为,这项局部研究不仅为一门关键专科的发展,也为国民保健服务体系中研究与政策不断变化的动态提供了有益的更广泛见解。