What to expect from genetic counselling for a BRCA gene mutation

A trained genetic counsellor usually begins by asking about cancers and diagnoses in your close and extended family. They may draw a family tree, discuss ages at diagnosis, and check whether patterns could suggest an inherited BRCA1 or BRCA2 change.

The counsellor explains what a blood or saliva test can and cannot show, how results may affect medical decisions, and who may be able to access the information. Counselling is a discussion, not a requirement to proceed with testing.

Results may identify a harmful BRCA change, find no BRCA change, or be reported as a variant whose meaning is uncertain. A positive result indicates an inherited change associated with increased risk; it does not confirm that you have cancer. Your result is interpreted alongside your personal and family history.

Before the appointment, gather any family information you can, including the type of cancer, approximate age at diagnosis, and whether relatives have had genetic testing. Bring questions about privacy, possible results, and implications for relatives.

If testing is chosen, the counsellor explains consent and arranges the sample. Afterward, they discuss the result and may refer you to an oncology, breast, gynaecology, or other specialist. Follow-up can include personalised screening, risk-reducing options, or testing discussions for relatives; the plan depends on your result and history.

Arrange genetic counselling if you or a close relative has had breast, ovarian, fallopian tube, primary peritoneal, pancreatic, or certain prostate cancers, particularly when the pattern or age at diagnosis raises concern for inherited risk. A known BRCA change in the family is also a reason to seek specialist advice.

Genetic counselling does not replace assessment of a new symptom. Contact a clinician promptly about a new breast or chest lump, nipple or skin change, unusual bleeding, persistent abdominal symptoms, or another change that concerns you. Seek urgent help for severe or rapidly worsening symptoms.

Ask: What features of my personal or family history make testing relevant? Which genes will the test assess? What could each type of result mean for my screening and treatment? How will my information be stored and shared? Should my relatives consider counselling, and who can help me explain the result to them?