Trends and Factors Affecting Utilization of BRCA Testing in the United States: The Need for Improved Surveillance

Posted on by Katherine Kolor, Zhuo Chen, and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention

hands holding a pink ribbon with the US map in the backgroundThis blog post is a summary of two recent CDC papers on the trends in utilization of BRCA testing in the United States, and metropolitan-nonmetropolitan areas differences in testing.

Women with pathogenic BRCA mutations have an estimated 45–65% risk of breast cancer and a 17–39% risk of ovarian cancer by age 70, as compared with a 7% risk of breast cancer and 0.6% risk of ovarian cancer by age 70 in the general population. Timely ascertainment of BRCA mutation carriers allows for preventive interventions, including enhanced screening, chemoprevention, or prophylactic surgery to remove the breasts and/or ovaries, which can significantly decrease morbidity and mortality. Prophylactic mastectomy can reduce the risk of breast cancer by 85–100%, and prophylactic oophorectomy can reduce the risk of ovarian cancer by 69–100% and breast cancer by 37–100%.

BRCA test utilization and costs in the United States may be influenced by numerous factors such as increased education, awareness, professional society recommendations, clinical guidelines, scientific evidence, evolving technology, and national policies (e.g. Affordable Care Act) and celebrity endorsements. Understanding how these many factors may, individually and collectively, directly or indirectly, influence BRCA testing rates and costs is complex, and subject to the limitations of available data for assessing use of BRCA testing in the general US population. BRCA genetic testing is not captured currently in any national surveillance system. Medical claims data have been used in a number of studies on general BRCA testing trends among the nation’s insured, including guideline-concordant use.

Chen and coauthors examined 12-year trends in BRCA testing rates and costs in the context of clinical guidelines, national policies, and other factors. We estimated trends in BRCA testing rates and costs from 2003 to 2014 for women aged 18–64 years using private claims data and publicly reported revenues from the primary BRCA testing provider.

The percentage of women with zero out-of-pocket payments for BRCA testing increased during 2013–2014, after 7 years of general decline, coinciding with a clarification of

Affordable Care Act coverage of BRCA genetic testing. Beginning in 2007, family history accounted for an increasing proportion of women with BRCA tests compared with personal history, coinciding with BRCA testing guidelines for primary care settings and direct-to-consumer advertising campaigns. During 2013–2014, BRCA testing rates based on claims grew at a faster rate than revenues, following 3 years of similar growth, consistent with increased marketplace competition. In 2013, BRCA testing rates based on claims increased 57%, compared with 11% average annual increases over the preceding 3 years, coinciding with celebrity publicity. The observed trends in BRCA testing rates and costs are consistent with possible effects of several factors, including the Affordable Care Act, clinical guidelines and celebrity publicity.

The study has several strengths and limitations as discussed in details (ref). A comprehensive analysis of the likely population health impact of increased uptake of BRCA testing is needed but may require additional sources of data. Assessment of trends in rates of genetic testing for other genes or conditions, such as Lynch syndrome, also remains challenging.

In a separate analysis, Kolor and coauthors found that from 2009 to 2014, BRCA testing rates among women aged 18–64 years with employer-sponsored health insurance were lower in nonmetropolitan areas than in metropolitan areas. However, BRCA testing rates increased more in nonmetropolitan areas than metropolitan areas. BRCA testing rates increased 2.3 times in metropolitan areas and 3.0 times in nonmetropolitan areas. The relative difference in BRCA testing rates between metropolitan and nonmetropolitan areas decreased from 37% in 2009 to 20% in 2014.

To monitor the extent to which BRCA testing adheres to evidence-based guidelines and result in actions likely to prevent death from certain cancers, improved surveillance tools are needed to determine the indications for and results of BRCA testing. CDC funds state health departments to promote the application of best practices for evidence-based breast cancer genomics through education, surveillance, and policy activities. The data sources, tools, and resources developed through these programs can be applied to further examine and address differences in rates of BRCA testing and receipt of follow-up preventive services across population subgroups, including metropolitan and nonmetropolitan differences. Programs can build on the recent reduction in geographic disparities in receipt of BRCA testing while simultaneously educating the public and health care providers about U.S. Preventive Services Task Force recommendations and other clinical guidelines for BRCA testing and counseling.

Posted on by Katherine Kolor, Zhuo Chen, and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and PreventionTags

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Page last reviewed: April 28, 2021
Page last updated: April 28, 2021