Experts say more women should be tested for BRCA1 and BRCA2 genetic mutations.

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New recommendations from the US Preventive Services Task Force (USPSTF) indicate that more women may benefit from genetic testing for the BRCA1 and BRCA2 mutations linked to hereditary breast and ovarian cancer, especially if they have already survived cancer once. The new recommendations, published in JAMA, broaden the scope of who should be evaluated for testing of these mutations.1 They suggest that primary care clinicians assess the risk in women who have a personal or family history of breast, ovarian, fallopian tube, or peritoneal cancer as well as those who have an ancestry associated with BRCA1/BRCA2 mutations. If those patients have a positive result in that risk assessment, they should receive genetic counseling and potentially testing for the mutations, according to the recommendation. Women with no personal or family history of these diseases or ancestry associated with the mutations should not receive routine assessment or genetic counseling and testing, the panel concludes. Fewer than 1% of all women have a mutation in either of the BRCA genes. The recommendation provides guidance regarding the steps women can take to determine whether they are at risk of the mutations, starting with talking to their clinician about their personal or family history and ancestry. The panel adds that women should undergo testing only after they have discussed the benefits and harms with a clinician. The USPSTF is an independent, volunteer panel of national experts in prevention and evidence-based medicine.