From what and why did genetics emerge as a medical specialism in the 1970s in the UK? A case-history of research, policy and services in the Manchester region of the NHS

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.