Inside the Diagnostics Industry: New Government BRCA Test Guidelines Are a Mixed Bag for Genetic Testing Labs

The US Preventive Services Task Force (USPSTF) issued updated recommendations for BRCA-related cancer risk assessment, genetic counseling and testing in the Aug. 20 issue of the Journal of the American Medical Association (JAMA). The key takeaways: While the USPSTF has expanded the scope of at-risk patients it thinks should receive BRCA testing, it is standing by its previous position of recommending against routine testing of patients without a personal or family history of BRCA-related cancer.


BRCA1 and BRCA2 (BRCA1/2) mutations occur in an estimated 1 in 300 to 500 women and account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases. The USPSTF is an independent panel of experts appointed by the US Department of Health and Human Services’ Agency for Healthcare Research and Quality charged with making evidence-based recommendations about clinical preventive services, including cancer prevention.

Previous Recommendations

In 2013, the USPSTF recommended that a primary care provider screen women who have family members with breast, ovarian, tubal or peritoneal cancer using assays and tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in the BRCA1/2 breast cancer susceptibility genes. It also recommended that women with positive screening results receive genetic counseling and, if indicated after counseling, BRCA testing.

The USPSTF recommended against routine genetic counseling or BRCA testing for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1/2 genes.

New Recommendations

The USPSTF has broadened the group recommended for testing to include two new groups:

  • Women with personal histories of breast, ovarian, tubal or peritoneal cancer, including women successfully treated for these cancers in the past (italicized language is new); and
  • Women “who have an ancestry associated with BRCA1/2 gene mutations,” such as women of Ashkenazi Jewish descent.

What hasn’t changed is the recommendation against broad BRCA1/2 screening for women with no personal or family history of breast, ovarian, tubal or peritoneal cancer and no high-risk ancestry.

Impact on the Lab Industry

As consumer genetic testing firms struggle with a soft market, US government-sanctioned recommendations that more women get BRCA testing is certainly welcome news. However, the positivity is tempered by the USPSTF’s refusal to budge on testing for women without personal or family histories of cancer.

Moreover, companies like Myriad Genetics and Invitae are already looking past two-gene BRCA1 and BRCA2 tests to multigene panels for hereditary cancer risk assessment. However, the USPSTF declined to add these panels to its list of recommended tests. “The clinical significance of identifying pathogenic variants in multigene panels requires further investigation,” according to the USPSTF’s guidelines. “The evidence is currently limited on other moderate penetrance genes, given their relatively low incidence in the population.”

Also disappointing to consumer testing firms is the USPSTF’s refusal to address two other key issues:

  • BRCA-related cancer risk assessment for biological males; and
  • BRCA testing for other types of cancer associated with BRCA1/2 such as pancreatic cancer, prostate cancer and melanoma.

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