On [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.
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,” [Stanford University professor of medicine Douglas] Owens notes.
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.
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