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Uptake of BRCA Testing and Downstream Healthcare Utilization


Introduction: For almost 25 years, BRCA testing has been used to successfully personalize cancer risk for primary prevention, and can serve as model for integration of genetics and genomics into routine clinical care. Historically, most studies of BRCA testing and downstream healthcare utilization have focused on clinical populations. Recent efforts have looked at population-wide uptake of BRCA testing using claims analysis, but have not correctly and fully identified historical BRCA tests, since billing practices have been complex. Angelina Jolie’s editorial in 2013 discussing her risk-reducing surgery due to her positive BRCA status provides a natural experiment to assess whether BRCA uptake and downstream utilization is affected by public endorsements. Methods: The current study utilized the Healthcare Cost Institute (HCCI) multi-payer claims database to assess a novel method for identifying BRCA tests with increased accuracy. Analysis focused on characterizing enrollees eligible for BRCA testing and drivers for BRCA testing, and assessing adherence to clinical management guidelines for BRCA carriers. Results: This method identified more BRCA tests than the other published methods. The testing rate among eligible enrollees was 5.1%. Most BRCA tests were ordered on young enrollees, with a family history that justifies the medical necessity of the test. From 2008-2017, there was an increase in BRCA testing across all ages, cancer diagnoses and types of family history. A clear “Jolie Effect” was observed especially in young, unaffected enrollees. These effects persisted after adjusting for covariates. The BRCA mutation pick up rate was 7.3%. About one quarter of BRCA carriers chose risk-reducing procedures in the first year post BRCA testing. The majority of BRCA carriers who chose screening, underwent at least one recommended surveillance procedure in the first year, but adherence decreased throughout the five-year follow-up period, dropping to under 10% for annually recommended screenings. Conclusion: Complicated billing methodology, and changing procedure codes make it challenging to capture all BRCA tests via claims analysis. The current method leveraged knowledge of BRCA testing methodology and billing practices of laboratories, to maximize BRCA test identification from claims analysis. BRCA testing rates, and BRCA mutation pick-up rates were less than 10%. Risk reducing surgery had incomplete uptake, and there was a lack of adherence to recommended increased screening among BRCA carriers. These testing and healthcare utilization patterns may diminish the primary prevention effect of BRCA testing across large populations.

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