Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program

摘要: Population genomic screening has been demonstrated to detect at-risk individuals who would not be clinically identified otherwise. However, there are concerns about the increased utilization of unnecessary services and associated increase in costs. The objectives this study twofold: (1) determine whether is a difference healthcare costs following disclosure pathogenic/likely pathogenic (P/LP) BRCA1/2 variant via program, (2) measure post-disclosure uptake National Comprehensive Cancer Network (NCCN) guideline-recommended risk management. We retrospectively reviewed electronic health record (EHR) billing data from female population P/LP carriers without personal history breast or ovarian cancer enrolled Geisinger's MyCode program with at least one-year observation period. 59 women for cohort out 50,726 participants. found no statistically significant differences inpatient outpatient average total between pre- periods ($18,821 vs. $19,359, p = 0.76). During first year post-disclosure, 49.2% had genetic counseling visit, 45.8% mammography 32.2% an MRI. mastectomy oophorectomy was 3.5% 11.8%, respectively, 5% patients received chemoprevention.