Use of BRCA Mutation Test in the U.S., 2004-2014

Am J Prev Med. 2017 Jun;52(6):702-709. doi: 10.1016/j.amepre.2017.01.027. Epub 2017 Mar 22.


Introduction: BRCA mutation testing has been used for screening women at high risk of breast and ovarian cancer and for selecting the best treatment for those with breast cancer. To optimize the infrastructure and medical resources allocation for genetic testing, it is important to understand the use of BRCA mutation testing in the U.S. health system.

Methods: This retrospective cohort study included 53,254 adult women with insurance claims for BRCA mutation testing between 2004 and 2014 from ClinformaticsTM Data Mart Database. Data analysis was performed in 2016. This study assessed trends in the use of BRCA mutation testing in women with previously diagnosed breast or ovarian cancer and those without (unaffected women).

Results: Between 2004 and 2014, of those receiving BRCA testing, the proportion of BRCA tests performed in unaffected women increased significantly (p<0.001), from 24.3% in 2004 to 61.5% in 2014. An increase in the proportion of BRCA tests used in unaffected women was found in each characteristic subgroup. In 2014, most subgroups had a proportion surpassing 50%, except for those aged 51-65 years and those without a family history of breast cancer. There was a much lower proportion of those aged 20-40 years among tested women with previously diagnosed breast or ovarian cancer than in unaffected women (17.6% vs 41.7%, p<0.001).

Conclusions: During the past decade, the role of BRCA testing has gradually shifted from being used primarily in cancer patients to being used in unaffected women in the U.S.

MeSH terms

  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / genetics
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Predisposition to Disease
  • Genetic Testing / statistics & numerical data*
  • Humans
  • Insurance Claim Review
  • Mutation
  • Ovarian Neoplasms / diagnosis*
  • Ovarian Neoplasms / genetics
  • Retrospective Studies
  • United States