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

  • Fangjian Guo
    Correspondence
    Address correspondence to: Fangjian Guo, MD, PhD, Department of Obstetrics and Gynecology, Center for Interdisciplinary Research in Women’s Health, the University of Texas Medical Branch, 301 University Blvd., Galveston TX 77555-0587
    Affiliations
    Department of Obstetrics and Gynecology, University of Texas Medical Branch, Galveston, Texas

    Center for Interdisciplinary Research in Women’s Health, University of Texas Medical Branch, Galveston, Texas
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  • Jacqueline M. Hirth
    Affiliations
    Department of Obstetrics and Gynecology, University of Texas Medical Branch, Galveston, Texas

    Center for Interdisciplinary Research in Women’s Health, University of Texas Medical Branch, Galveston, Texas
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  • Yu-li Lin
    Affiliations
    Center for Interdisciplinary Research in Women’s Health, University of Texas Medical Branch, Galveston, Texas

    Office of Biostatistics, Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, Texas
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  • Gwyn Richardson
    Affiliations
    Department of Obstetrics and Gynecology, University of Texas Medical Branch, Galveston, Texas

    Center for Interdisciplinary Research in Women’s Health, University of Texas Medical Branch, Galveston, Texas
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  • Lyuba Levine
    Affiliations
    Department of Obstetrics and Gynecology, University of Texas Medical Branch, Galveston, Texas

    Center for Interdisciplinary Research in Women’s Health, University of Texas Medical Branch, Galveston, Texas
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  • Abbey B. Berenson
    Affiliations
    Department of Obstetrics and Gynecology, University of Texas Medical Branch, Galveston, Texas

    Center for Interdisciplinary Research in Women’s Health, University of Texas Medical Branch, Galveston, Texas
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  • Yong-Fang Kuo
    Affiliations
    Center for Interdisciplinary Research in Women’s Health, University of Texas Medical Branch, Galveston, Texas

    Office of Biostatistics, Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, Texas

    Departments of Internal Medicine and Sealy Center on Aging, University of Texas Medical Branch, Galveston, Texas

    Institute for Translational Science, University of Texas Medical Branch, Galveston, Texas
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      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.
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