genetic testing
Meaning of genetic testing: Genetic testing analyzes DNA to diagnose an inherited condition, determine carrier status, or clarify an inherited risk of developing a disease.
Definition of genetic testing
Genetic testing is the analysis of a person's DNA to look for a genetic change, or variant, that may be relevant to their health. Testing can serve several distinct purposes, including confirming a suspected genetic condition, determining whether a person carries a gene variant that could be passed to children, and clarifying an inherited risk of developing a particular disease, such as certain cancers.
Samples for genetic testing are typically obtained from blood, saliva, or other tissue, and the specific genes or regions of DNA examined depend on the question being asked, ranging from a single gene associated with a known condition to a broader panel or the full genome.
Because a genetic variant does not always determine whether or when a condition will actually develop, results from genetic testing are generally interpreted alongside personal and family medical history rather than considered in isolation.
Used in a sentence
Genetic testing was recommended given the patient's strong family history of the condition.
Good to know
A genetic variant identified through testing does not always mean a condition will develop, since many variants influence risk without guaranteeing an outcome, which is why results are interpreted alongside other clinical information.
Word origin
Where “genetic testing” comes from
Genetic, from Greek genesis, meaning origin or descent, describes testing that examines this inherited material directly, in contrast to tests that measure a downstream effect such as a blood chemical.