Clinical genetics
Clinical geneticists are doctors who diagnose and manage families with genetic disorders.
This page provides useful information on the nature of the work, the common procedures/interventions, sub-specialties and other roles that may interest you.
Nature of the work
Clinical geneticists give advice on:
- appropriate management of rare disorders
- genetic testing
- reproductive options e.g. the availability of prenatal testing for a specific disorder
- risk assessment of individuals and genetic counselling of family members
It is a rapidly evolving field with developments in molecular diagnostic techniques and increased knowledge about genetic causes of human disease.
Clinical geneticists do not prescribe or undertake operative interventions themselves. The term is used by the RCP to refer to the work of medical doctors and not non-medical clinical staff (such as genetic counsellors and genomic counsellors).
Clinical geneticists manage conditions such as:
- chromosomal abnormalities, which cause birth defects, mental retardation and/or reproductive problems
- single gene disorders such as cystic fibrosis, muscular dystrophy, Huntington's disease and sickle cell disease
- familial cancer and cancer-prone syndromes such as inherited breast or colorectal cancer and neurofibromatosis
- birth defects with a genetic component such as neural tube defects and cleft lip and palate
- inherited cardiac conditions associated with sudden death
- learning difficulties associated with other problems or a family history
Common procedures/interventions
These include:
- clinical history taking
- physical examination
- genetic testing
- genetic counselling
- performing skin biopsies
- taking clinical photographs
- using computerised databases
Sub-specialties
There are no associated CCT sub specialties of clinical genetics.
Clinical geneticists may develop sub-specialty interests such as:
Want to learn more?
Find out more about:
- the working life of a doctor in clinical genetics
- the entry requirements and training and development