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Clinical genetics

Clinical genetics is a specialty that involves the diagnosis and management of genetic disorders affecting individuals and their families.

The rapid increase in understanding of biological variation and its role in health and disease make it an exciting and expanding specialty.

It is largely outpatient-based, with some ward referrals for a specialist opinion. Clinical geneticists generally work in Regional Genetic Centres in close collaboration with laboratory scientists, genetic counsellors and academic colleagues.

The key roles of a clinical geneticist are to diagnose inherited disorders and birth defects, estimate genetic risks, organise appropriate genetic testing, and advise individuals who may have, or be at risk of, a genetic disorder.

Since genetic disorders can affect people of all ages and involve all body systems, clinical geneticists work closely with a wide range of other specialties, frequently in multi-disciplinary clinics. Some sub-specialisation (e.g. dysmorphology, cancer genetics, neurogenetics, cardiac genetics) is therefore common.

The training programme in clinical genetics is four years as a Specialty Trainee and research experience is actively encouraged. Entry into the specialty is usually at the ST3 level, either as a clinical or an academic trainee. Recruitment is arranged bi-annually with candidates competing at a national level. Most trainees have a background in adult or paediatric medicine and must have MRCP(UK) or MRCPCH prior to entry at ST3.

Most trainees become NHS consultants but those with a research interest may become full or part-time academic consultants, with fewer clinical commitments. Teaching is also an important part of the workload of most clinical geneticists

Clinical genetics will particularly suit trainees who are good communicators and team workers, who are inquisitive and enjoy variety, and who are able to work with a measure of independence.

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