Family genetics

A comprehensive family history, regularly updated and including the patient's ancestry and cultural background can aid in diagnosis, risk prediction, referral and genetic testing.

This article discusses the professional and support services available to families following the identification of a genetic condition or mutated gene, conferring individual or reproductive risk.

Genetic testing for a range of conditions is available for diagnostic, carrier, predictive and presymptomatic purposes. Genetic testing for ancestry promoted widely on the internet has little or no scientific validity. Patients should be strongly encouraged to share their genetic information to enable cascade genetic testing. Genetics services provide current information, and where appropriate, discussion of reproductive options and genetic testing after consideration of all the implications and support for the decision making and its consequences engendered. Support groups for specific conditions are important partners in the provision of support for families with genetic conditions.