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USPSTF: BRCA testing beneficial for women with high risk

Wednesday January 1, 2014
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Risk assessment, genetic counseling and genetic testing for BRCA-related cancer are beneficial for a small group of high-risk women, according to a Dec. 24 final recommendation from the U.S. Preventive Services Task Force.

The task force does not recommend in-depth genetic counseling and testing for the 90% of women who do not have a family history that puts them at high risk for the inherited mutations.

Under terms of the Affordable Care Act, the final recommendation means insurers must cover these screening services with no cost-sharing for women deemed to be at high risk.

Potentially harmful mutations of the BRCA genes are predominantly linked to breast, ovarian and fallopian tube cancer, according to the National Cancer Institute. In the general population, 12.3% of women will develop breast cancer during their lifetime and 2.74% will die of the disease, and 1.4% of women will develop ovarian cancer and 1% will die of the disease, the recommendation states. Previous studies have shown a woman’s risk for breast cancer increases to 45%-65% by age 70 if clinically significant mutations are present in either BRCA gene. Mutations in the BRCA1 and BRCA2 genes increase ovarian cancer risk to 39% and 10%-17%, respectively, by age 70.

The task force recommends women with family members who have had breast, ovarian, tubal or peritoneal cancer talk with a healthcare professional to learn whether their history might put them at risk for carrying a BRCA mutation. Women who screen positive for this risk should receive genetic counseling and, if indicated after counseling, BRCA testing, according to the recommendation.

However, for the 90% of American women who do not have a family history that puts them at high risk for the inherited mutations, the task force continues to recommend against genetic counseling and testing. In the general population, these mutations occur in an estimated 0.2%-0.3%, according to the task force.

“Too many American women and families are faced with the challenge of dealing with cancer diagnosis and treatment,” USPSTF chairwoman Virginia Moyer, MD, MPH, said in a news release. “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.”

Existing tests work best for women who are high-risk, but the test alone does not always provide a definitive answer, according to the task force. Inconclusive genetic testing leads many women to choose interventions such as powerful medications or surgery that may cause needless harm.

“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 in the release.

The task force’s final recommendation is published on its website and in the Annals of Internal Medicine.

Final recommendation: http://bit.ly/1g7xV12


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