Eight in 10 patients carrying a BRCA mutation are unaware of their status, according to a study published Sept. 21 in JAMA Network Open. The authors say these findings highlight that previous BRCA prevalence estimates may be low and that current risk-based methods to identify BRCA variant carriers may be inadequate. “Our reliance on a documented personal or family history as a trigger to offer testing is not working,” said senior author Michael Murray, M.D., in a statement. “Hopefully one day, we can change that with effective DNA-based screening for everyone.” Researchers analyzed data from 50,726 adult volunteers who underwent exome sequencing at Geisinger Health System (Danville, Penn.) from Jan. 1, 2014, to March 1, 2016 as part of the Geisinger MyCode Community Health Initiative’s DiscovEHR cohort. Patients with pathogenic or likely pathogenic BRCA1/2 gene variants were subclassified based on prior identification of a variant and a personal or family history that would have met established clinical criteria for referral or testing. The researchers found that 99.5 percent of patients had no expected pathogenic BRCA1/2 variants, while 0.5 percent were BRCA1/2 carriers. Among women, 20.9 percent of 148 variant carriers had a personal history of breast cancer and 10.1 percent […]