How does BRCA genetic testing work?

A positive result identifies an inherited gene change associated with increased risk for certain cancers; it does not prove that you have cancer. A negative result may mean no relevant change was found, although its meaning depends on your personal and family history. Sometimes a variant is found whose effect is not yet clear. Genetic counselling helps place the result alongside your age, relatives’ diagnoses and screening history.

Testing may be offered to someone with a personal or family pattern of breast, ovarian or related cancers. A result can also provide information that biological relatives may wish to discuss with a clinician.

Before testing, genetic counselling covers the reason for testing, possible results, privacy considerations and how results could affect relatives. The sample is sent to a laboratory, where sequencing and related analysis look for relevant changes. Results are reviewed with you rather than interpreted in isolation. Depending on the finding, your care team may discuss tailored screening, risk-reducing options or testing for relatives.

Arrange a genetics appointment if you or close relatives have had breast or ovarian cancer at an unusually young age, several related cancers, cancer in both breasts, or a known BRCA gene mutation. Seek prompt medical care for a new breast or pelvic symptom; genetic testing does not replace assessment of a symptom.

Ask which genes and variants the test examines, whether counselling is available before and after testing, how an uncertain result will be handled, and which screening or prevention choices would fit your history.