Description of specialty

The specialty of clinical genetics provides services for individuals and families who are affected by, or are at risk of developing, conditions that have (or may have) a genetic basis. Individuals and families are helped to understand their condition, its implications, and their options with regard to reproduction, screening, prevention and management.

Genetic disorders affect at least 5% of the population, and can affect any body organ or system. They include chromosomal abnormalities, rare single-gene disorders, congenital abnormalities (including non-genetic and teratogenic anomalies), intellectual disability, familial cancer syndromes and common disorders with a single-gene basis, eg cancer and inherited cardiac conditions. The Clinical Genetics Society and British Society for Genetic Medicine can provide more information.

Clinical genetics services work closely with genetics laboratories in regional genetics centres (RGCs). Clinical geneticists diagnose genetic disorders, arrange and interpret genetic test results, assess and communicate genetic risks, and provide information and appropriate counselling support. Additionally, genetics services provide an expert information and educational resource to other healthcare disciplines, participate in multidisciplinary working with other medical specialties, and contribute to research through clinical and laboratory genetic projects, and recruitment to national genomic studies and therapeutic trials. The core and evolving roles of the clinical geneticist are outlined in the following documents:

Recent years have seen rapid progress in genetics and genomics, with implementation of genetic technology into many areas of healthcare. Clinical genetics, together with genetics laboratories, leads the development of genetic and genomic services for the NHS through the Genomic Medicine Centres.