Clinical Pathology Abstracts, 6/17

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Trends in use of the BRCA mutation test in the United States

BRCA mutation testing is used to screen women at high risk for ovarian and breast cancer and to select the best treatment for those with breast cancer. The testing has been recommended by the U.S. Preventive Services Task Force, since 2005, for women whose family history demonstrates an increased risk for BRCA-related cancers. Approximately five to 10 percent of breast cancers and 10 to 18 percent of ovarian cancers are due to germline BRCA mutations. However, the majority of at-risk women do not get referrals for genetic counseling or testing. BRCA testing is also often used for women in whom the testing may not be indicated by practice guidelines. The authors conducted a study to examine trends in the use of BRCA mutation testing in ovarian and breast cancer patients and unaffected women in the United States from 2004 to 2014. They performed a retrospective study on 53,254 women with insurance claims for BRCA mutation testing, from the Clinformatics Data Mart database. Data analysis showed that the proportion of BRCA tests performed in unaffected women in the study group increased significantly from 24.3 percent in 2004 to 61.5 percent in 2014. In particular, the proportion of study participants aged 20 to 40 years who received BRCA mutation testing was much higher in unaffected women than in women with previously diagnosed breast or ovarian cancer (41.7 percent versus 17.6 percent, respectively). The authors concluded that during the past decade, the role of BRCA testing has gradually shifted from being used primarily for cancer patients to being used for unaffected women in the United States. Most of the patients referred for genetic testing and counseling do not meet the referral requirements based on family history. The authors suggest that since the cost of such genetic testing is low, at roughly $200 to $300, practical guidelines may further loosen the testing criteria, and more unaffected women and cancer patients will choose BRCA mutation testing, even when they have to pay out of pocket.

Guo F, Hirth JM, Lin Y, et al. Use of BRCA mutation test in the U.S., 2004–2014 [published online ahead of print March 18, 2017]. Am J Prev Med. doi:10.1016/jamepre.2017.01.027.

Correspondence: Dr. Frangjian Guo at faguo@utmb.edu