BRCA testing beneficial for high-risk women, USPSTF says

The United States Preventive Services Task Force has published a statement recommending that primary care providers screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with one of several screening tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes (BRCA1 or BRCA2).

The recommendation statement was published Dec. 23 in the Annals of Internal Medicine. The recommendation updates the 2005 USPSTF recommendation and advises women with positive screening results to undergo genetic counseling and, if indicated afterward, BRCA testing.

Heidi D. Nelson, M.D., of Oregon Health & Science University, and colleagues conducted a systematic literature review in order to update the 2005 recommendation on genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility.

The review indicated that genetic counseling increases the accuracy of risk perception; decreases genetic testing among unlikely carriers; and is associated with reduced cancer worry, anxiety, and depression.

"Too many American women and families are faced with the challenge of dealing with cancer diagnosis and treatment. We have great hope in the science of genomics to improve screening practices and even prevent some cancers," Task Force chair Virginia Moyer, M.D., M.P.H., said in an announcement. "At this point, the evidence shows that most American women will not benefit from genetic counseling or the test for gene mutations in BRCA1 and BRCA2. For women who have a family history that might be associated with an increased risk for these mutations, we found that some may benefit from in-depth genetic counseling that thoroughly reviews their family history and, if indicated and after weighing the pros and cons of BRCA testing, receiving the test."

The USPSTF emphasized that current tests works best for women at a high risk for developing cancer, but that the test alone doesn't provide a definitive answer and that there are harms associated with testing. Consequently the Task Force continued to recommend against routine genetic counseling and BRCA testing in women without a strong family history of cancer.

"Evidence still shows that there are serious, negative consequences that could result from testing women who are at low risk for BRCA mutations," Moyer said. "The BRCA test works best for women who have reviewed their family history of breast or ovarian cancer and the pros and cons of the screening test with a trained professional. We hope further research will improve the ways genomic science can help women and their doctors understand their risk for cancer."

To learn more:
- see the recommendation statement
- read the systematic literature review
- see the announcement from the USPSTF (.pdf)