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Certain Circumstances

The US Preventive Services Task Force has updated its recommendations for assessing and testing BRCA1 and BRCA2 mutations for breast and ovarian cancer susceptibility. As the task force's chair, Virginia Moyer, writes in the Annals of Internal Medicine, routine genetic screening in the absence of family history of the disease is not warranted.

In general, about 12.3 percent of women with develop breast cancer during their lives and 1.4 percent of women develop ovarian cancer. The prevalence of harmful BRCA mutations is estimated to be between 0.2 percent and 0.3 percent in the general population, though it is higher in women who develop cancer before the age of 40 and in women with Ashkenazi Jewish ancestry.

The task force examined some 18 studies that were published since its last assessment in 2005 that weighed the benefits and harms of testing.

For women with a family history that indicates an increased risk of having harmful BRCA1 or BRCA2 mutations, the USPSTF says that the net benefit of testing, detection, and early intervention is moderate. At the same time, it says that the net benefit of testing, detection, and early intervention for women without that family history ranges from minimal to potentially harmful.

"We have great hope in the science of genomics to improve screening practices and even prevent some cancers," Moyer said in a statement. "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.”

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