What is Clinical Genetics?

What is Clinical Genetics?

Clinical Genetics is the medical specialty which provides a diagnostic service and genetic counseling for individuals or families with, or at risk of, conditions which may have a genetic basis. Genetic disorders can affect any body system and any age group. The aim of Genetic Services is to help those affected by, or at risk of, a genetic disorder to live and reproduce as normally as possible. Genetic disorders include :

  • 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.

In addition, a large number of individuals with birth defects and/or learning disabilities are referred and investigated for genetic factors. Individuals identified through childhood or pregnancy screening programs also require genetic services. In the future, as the genetic contributions to common later-onset disorders such as diabetes and coronary heart disease are identified, genetic services may be required for those at high risk. Testing for genetic factors that affect drug prescribing will also increasingly become an important activity.

What are Regional Genetics Services?

Specialist genetic services have developed in the UK largely as regional centres of expertise. All support the network of Regional Genetics Centres and the need for close functional interaction between centres and between elements of the service within an individual centre. Specialist genetic services can be distinguished from other medical services by the fact that they deal with families, often over several generations, and that they can provide genetic expertise for any age group affected by, or at risk of, disorders in any body system.