Most clinical geneticists undertake research and one third of all consultant appointments are academic. The majority of specialists are part of a multidisciplinary team based in regional genetic centres which serve populations of between two and six million people. The teams include genetic laboratory scientists – both molecular biologists and cytogeneticists - and genetic counsellors as well as clinical geneticists. The regional centres are often co-located with academic human genetic departments which link with basic sciences such as genetics and developmental biology.

What is the scope of clinical genetics?

Clinical Geneticists specialise in the diagnosis, management and follow-up of rare genetic disorders, but genetic subsets of very common diseases, such as heart disease and cancer, are increasingly being recognised. New roles for clinical geneticists are therefore being identified both in the clinic and in research. At the same time, as our increasing knowledge about genetics impacts more and more on all branches of medicine, other specialties may also undertake traditionally genetics-related activities, such as genetic investigations, risk assessments and counselling. However, they may not wish to address the needs of extended families. In multisystem diseases, geneticists may develop a coordinating role and become an increasingly important member of the therapeutic team.

In some instances longer-term surveillance and treatment are involved. Genetic risk assessment and counselling for patients and their families forms another key clinical activity along with teaching. It is one of the last truly generalised specialties encompassing both adult and paediatric medicine.