ABSTRACT

Clinical genetics is a branch of medicine concerned with the diagnosis, testing and management of diseases caused by changes in the human genome. Clinical geneticists must not only understand the molecular basis of genetic disease, but also identify clinical situations in which genetic testing is appropriate.A clinical geneticist must then communicate genetic information to family members so that they can understand the implications and make informed choices about gene testing and clinical management. Increasingly, clinical geneticists are also involved in identifying the best treatment for patients with rare genetic disorders, and in the testing for genetic predisposition to common disease.