This study by Guo et al. (American Journal of Preventive Medicine, 2017) analyzed BRCA mutation testing in women with breast or ovarian cancer and those women who were unaffected.
Retrospective Cohort Study
53,254 adult women who made insurance claims for BRCA mutation testing between 2004-2014 were surveyed. Over the course of the 10 years, tests performed in unaffected women increased from 24.3% to 61.5% (p<0.001). In addition, 60 to 80% of patients did not meet criteria based on family history. In 2004, approximately 75% of women undergoing testing had a history of cancer compared to approximately 40% by the end of the study in 2014. In a potentially high risk group of women due to early onset cancer (20-40 yrs), a greater proportion who underwent testing were unaffected (41.7%) compared to those with a history of cancer (17.6%) which was statistically significant (p<0.001). The authors conclude that there has been a significant shift from testing patients with a personal history of cancer to those who are unaffected. Moreover, they raise the concern that the current infrastructure is not efficient at identifying those at high risk for pathogenic BRCA mutations.
Use of BRCA Mutation Test in the U.S., 2004-2014
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