BRCA testing and testing results among women 18-65 years old

Since the 1990 s discovery of BRCA1 and BRCA2 pathogenic variants in breast or ovarian cancer patients, genetic testing has been recommended as part of a targeted, individualized approach for cancer prevention and treatment in eligible individuals. The aim of this study was to assess trends in BRCA test rates and results among adult women aged 18 to 65 in the US between 2007 and 2017. Using Clinformatics (c) Data Mart (CDM) Electronic Health Records, we included 223,211 women 18-65 years old with documented BRCA testing results from 1/1/2007-9/30/2017. Positive results indicated the presence of pathogenic variantss. BRCA test rates increased significantly from 34 per 100,000 women in 2007 to 488 per 100,000 women in 2016 (APC 30.8, 95% confidence interval 26.6-35.1). Documented positive results decreased from 86.1% in 2007 to 78.0% in 2017(APC-0.6, 95% confidence interval -1.4-0.2). From 2007 to 2017, decreasing trends in the rates of documented positive results were observed among all three age groups (18-39, 40-54, and 55-65 years; largest in 40-54 group). In 2015-2017, women with positive test results were less likely to be non-Hispanic Whites, cancer patients, or living in the Northeast or an area with average household income >=$50,000. Between 2007 and 2017, increasing use of BRCA testing for cancer prevention and treatment occurred, correlating to the observed decreasing documented positive test rate. The utilization of testing and corresponding test results differed significantly across races/ethnicities, suggestive of a divergent application of the same testing criteria.

Automated summary

Since the discovery of BRCA1 and BRCA2 pathogenic variants, genetic testing has been recommended for cancer prevention and treatment. This study assessed the trends in BRCA test rates and results among US women aged 18 to 65 between 2007 and 2017. The results showed that the test rates increased while the documented positive results decreased. The utilization and outcomes of testing varied significantly across races/ethnicities.