Detection of BRCA mutation carriers is still not being maximized despite more and more women being tested, according to a study published in the American Journal of Preventive Medicine.1

Investigators at the University of Texas Medical Branch are reporting that during the past decade the role of BRCA testing has gradually shifted from being used primarily in patients with cancer to testing unaffected women in the United States.

Investigators conducted a retrospective study that included 53,254 adult women with insurance claims for BRCA mutation testing between 2004 and 2014. They found that the proportion of BRCA tests performed for unaffected women increased significantly from 24.3% in 2004 to 61.5% in 2014.

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The researchers believe effective testing strategies that promote equitable distribution and rational use of BRCA testing to maximize detection of mutation carriers are needed, according to a press release by the University of Texas Medical Branch.2 The researchers found that an estimated 60% to 80% of patients referred for genetic counseling and testing did not meet the referral criteria based on family history.

The study is notable because the investigators found that BRCA testing has shifted away from mainly patients with breast or ovarian cancer and persons at high risk. Although genetic testing has been recommended by the US Preventive Services Task Force (USPSTF) since 2005 for women with a family history of breast and/or ovarian cancer, BRCA testing has been especially underutilized in at-risk populations, the researchers report.


1. Guo F, Hirth JM, Lin YL, et al. Use of BRCA mutation test in the U.S., 2004–2014. Am J Prev Med. 2017 Mar 22. doi: 10.1016/j.amepre.2017.01.027 [Epub ahead of print]

2. Significant increase in number of women tested for BRCA gene, but many high-risk patients still missing out. New York, NY: Elsevier Health Sciences; March 22, 2017. Accessed April 5, 2017.