The U.S. Preventive Services Task Force has published a final recommendation statement on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women. According to a Task Force news release, women who have a family history of certain types of cancer—or who have an ancestry associated with BRCA1 or BRCA2 mutations—should be assessed for increased risk of the BRCA1 and BRCA2 genetic mutations.
Women who are found to be at increased risk should receive genetic counseling and, if indicated after counseling, BRCA testing. This is a B recommendation. Women who do not have a family history or ancestry associated with a mutation should not undergo risk assessment, genetic counseling, or testing. This is a D recommendation.
BRCA1 and BRCA2 genes produce proteins that repair damaged DNA and, as a result, help lower a woman’s likelihood of getting certain cancers. When either of the BRCA genes is mutated, cells in the body are more likely to develop additional genetic changes (mutations) that can lead to cancers, such as breast, ovarian, and peritoneal cancer. Less than 1 percent of all women have a mutation in either of the BRCA genes.
The Task Force’s recommendation lays out the steps women can take to determine if they are potentially at increased risk for BRCA gene mutations. The first of these steps is talking to a clinician about their personal or family history or ancestry to see if a risk assessment is needed.
“Women who have a personal or family history of certain types of cancers, or have ancestry associated with the BRCA mutations should discuss their risk with their clinician and, if indicated, undergo counseling and potentially genetic testing,” said Task Force member Carol M. Mangione, MD, MSPH Because these tests are not without harms, testing for BRCA mutations in women without these risk factors is not recommended.”
In some cases, women may only get a risk assessment and receive counseling. For example, a woman may get a risk assessment and, after a discussion with a genetic counselor, decide she would not benefit from getting tested. Testing should be done only after a woman has discussed the benefits and harms of testing with a trained health professional. The test results cannot always tell a woman if she has a potentially harmful mutation that could lead to cancer.
The Task Force’s final recommendation statement and corresponding evidence summary have been published online in the Journal of the American Medical Association, as well as on the Task Force website.
A draft version of the recommendation statement and evidence review were available for public comment from February 19, 2019, to March 18, 2019.
