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New Guidelines Expand BRCA Screening

US Preventive Services Task Force recommends genetic testing for mutations in the cancer-related genes for more—but not all—women.

Aug 21, 2019
Ashley P. Taylor

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On Tuesday (August 20), the US Preventive Services Task Force, a panel of federally appointed independent experts that makes recommendations about preventive care, published updated guidelines for testing people for mutations in the genes BRCA1 and BRCA2, some variants of which are associated with increased risks of breast, ovarian, and some other cancers. The new guidelines, which appear in JAMA, expand the group of women recommended to undergo BRCA1/2 risk assessments, but do not recommend broad screening for mutations in the two genes, GenomeWeb reports.

Previous guidelines by the US Preventive Services Task Force (USPSTF) already advised physicians to screen women with family members who have BRCA-related cancers and refer them to genetic counselors as needed, the Associated Press notes. The new guidelines also recommend that doctors perform BRCA1/2 risk assessments on women who have previously been treated for breast, ovarian, fallopian tube, and peritoneal cancers, and who are deemed cancer free, and on women whose ancestry puts them at a higher risk of deleterious BRCA1/2 mutations, such as Ashkenazi Jewish women.

“Whether or not the harms of risk assessment, counseling, testing, and interventions outweigh the benefits depends on a woman’s individual risk profile and family history,” USPSTF member and Stanford University professor of medicine Douglas Owens tells Reuters.

The USPSTF recommends that women who meet the updated screening criteria should be evaluated with a risk assessment tool, which will estimate their odds of having a harmful BRCA1/2 mutation. If the assessments indicate a harmful mutation is likely, then genetic counseling and, possibly, genetic testing could follow.

“Sometimes it makes sense for a woman to only get an assessment and undergo counseling, but not genetic testing,” Owens notes.

See “MyHeritage Launches Health-Related Genetic Test, Ignites Debate

If tests reveal that a woman has BRCA1/2 mutations that put her at an increased risk for cancer, then potential interventions include more screening for BRCA-associated mutations, medications, and surgeries (such as those to remove breasts, ovaries, or fallopian tubes) that could reduce that risk.

Ashley P. Taylor is a New York–based freelance reporter. Follow her on Twitter @crenshawseeds and read her work at ashleyptaylor.com.

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