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A type of genetic test used to determine if an asymptomatic individual (someone who isn’t presenting with any clinical signs or symptoms of a genetic condition) has a gene variant which may cause disease in the future.

Use in clinical context

For several diseases, variants within genes have been associated with an increased risk or chance of developing the condition. Testing for such variants can predict how likely an individual is to develop the disease. With the exception of Huntington disease, it is not inevitable that people with particular variants will develop disease. Knowledge of such an increased risk can be beneficial, however. Depending on the nature of the disease, individuals at risk can be monitored more closely, make lifestyle changes, take prophylactic drugs or have prophylactic surgery.

Last updated on 30th May, 2019