Based on its review of the evidence, the USPSTF recommended that physicians screen women who have family members with breast, ovarian, tubal or peritoneal cancer or who have an ethnicity or ancestry associated with BRCA1 or BRCA2 gene mutations. Screening should employ one of several screening tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in these breast cancer susceptibility genes, the final recommendation said.
Women with positive screening results should receive genetic counseling and, if indicated after counseling, genetic testing, the USPSTF said.
All of this guidance received the task force's "B" recommendation grade.
"There are several steps women can take to find out if they are at increased risk for BRCA gene mutations and if genetic counseling and BRCA testing is needed," said USPSTF member Carol Mangione, M.D., M.S.P.H., in a news release. "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. Because these tests are not without harms, testing for BRCA mutations in women without these risk factors is not recommended."
The task force recommended against routine screening, genetic counseling or genetic testing for women whose family or personal history, ethnicity, or ancestry is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 gene; this is a "D" recommendation.
Women with positive screening results should receive genetic counseling from a licensed counselor who will analyze the patient's family history and conduct a more in-depth risk assessment, the USPSTF said.
The counseling session also includes a thorough explanation of the benefits and harms of genetic testing and options for what to do if the test results show a BRCA mutation that is associated with an increased risk of cancer. If a counselor determines that a woman's family history, ancestry or ethnicity suggests she is at increased risk for BRCA-related mutations, the counselor should offer testing.
This final recommendation statement is consistent with the USPSTF's February draft recommendation and 2013 final recommendation,which the AAFP supported at the time.
Since 2013, the validity of genetic testing for BRCA mutations has been established and the potential benefits and harms of previously reviewed interventions, such as risk-reducing medications and surgery, have been studied for longer follow-up periods, according to the final recommendation.
In addition, there have been more studies of newer imaging techniques (e.g., breast MRI), surgical procedures (e.g., salpingo-oophorectomy rather than oophorectomy alone) and medications (e.g., aromatase inhibitors), the USPSTF said.
Draft versions of this recommendation statement and evidence summary were posted for public comment on the USPSTF website from Feb. 19 to March 18.
In response to some commenters, the task force clarified and expanded its description of risk assessment tools referenced in the recommendation.
The USPSTF also incorporated language clarifying that the recommendation includes women with a personal history of BRCA-related cancer who have completed treatment and are considered cured.
Other commenters asked that the population under consideration be expanded to include other BRCA-associated cancers, such as pancreatic cancer and melanoma, as well as to men with breast or prostate cancer.
"The USPSTF recognizes the association of BRCA1/2 mutations with cancers such as pancreatic, prostate and melanoma," the final recommendation said. "However, the scope of the recommendation is limited to the prevention of breast, ovarian, tubal and peritoneal cancer because the net benefit demonstrated was in the prevention of these cancers. The USPSTF did not review evidence on the benefits or harms of risk assessment, genetic counseling and genetic testing in men."
Several commenters requested a change in the recommendation's description of newer genetic testing options, including use of multigene panels, expanding the recommendation to include other gene mutations linked to increased risk of cancer (e.g., TP53, ATM, PALB2) and the use of direct-to-consumer testing.
"The USPSTF acknowledges that there is increasing access to multigene panels; however, the clinical significance of identifying pathogenic variants in multigene panels requires further investigation," the task force responded. "The evidence is currently limited on other moderate penetrance genes, given their relatively low incidence in the population. The USPSTF's recommendation focuses on BRCA1/2 mutations because they are more prevalent and the findings are clinically actionable."
The USPSTF said it found no evidence on the benefits or harms associated with the use of DTC testing. Current National Comprehensive Cancer Network guidelines recommend that multigene testing be offered in the context of professional genetic expertise for pre- and post-testing.
Finally, the task force added language emphasizing that the net benefit relies on genetic counseling to accompany testing results, including results from DTC testing.
The AAFP's Commission on Health of the Public and Science plans to review the USPSTF's final recommendation statement and evidence summary and will then determine the Academy's stance on the recommendation.
Related AAFP News Coverage
USPSTF: Screen At-risk Women for BRCA-related Cancer
Positive Screens Warrant Genetic Counseling, Testing