Women at high risk of harboring BRCA mutations frequently do not undergo BRCA mutation testing, according to a study published in the American Journal of Preventive Medicine.1

It is estimated that BRCA mutation testing is underutilized in high-risk populations, yet an increasing number of low-risk women undergo testing. The goal of this study was to determine the use of BRCA mutation testing in the United States.

In this retrospective cohort study, insurance claims data from 53,244 women was collected from Clinformatics Data Mart Database between 2004 and 2014.

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The cohort included 73% non-Hispanic white women age 20 to 65 with a median household annual income of $62,500.

BRCA mutation testing significantly increased from 24.3% in 2004 to 61.5% in 2014 in women with no history of breast or ovarian cancer (P < .001). This increase remained significant among all subgroups, including age, region of residence, and family history of breast or ovarian cancer.

The rate of increased use of testing was lower, however, among women at high-risk of BRCA mutations — those with a history of breast or ovarian cancer — with 17.6% having undergone testing in 2004 compared with 41.7% in 2014 (P < .001).

The authors attributed some of the increase in testing among low-risk women to lack of knowledge of health care providers regarding the indication of the test. The low cost of the test also enables women to choose to undergo testing and self-pay.

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The data from this study suggest that high-risk women are not undergoing testing. According to a press release, the authors noted that “many of the tests are performed in women who do not carry harmful BRCA mutations. Policymakers may need to take this into consideration to promote proper use of the test and maximize the detection of mutations carriers.”2


  1. Guo F, Hirth JM, Lin Y, et al. Use of BRCA mutation testing in the U.S., 2004-2014. Am J Prev Med. 2017 March 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 [news release]. Ann Arbor, MI: Elsevier Health Sciences; March 22, 2017. https://www.eurekalert.org/pub_releases/2017-03/ehs-sii032017.php. Accessed March 21, 2017.