Navigating the healthcare system with a BRCA1/2 pathogenic variant: What do patients value?

BRCA1/2 pathogenic variants (PVs) confer elevated lifetime risk of malignancies, including breast, ovarian, prostate, and pancreatic cancer. Navigating care is complex; patient-reported preventive, psychosocial, and logistical needs remain poorly understood. We evaluated patient perspectives through a survey disseminated via advocacy networks. Individuals with self-reported BRCA1/2 PVs completed an anonymous 20-question survey on care preferences. The survey was distributed via email through advocacy and support networks. Descriptive statistics summarized demographics, clinical characteristics, and responses. Open-ended responses were analyzed using thematic analysis. Thirty individuals visited the survey website with 90% (27) completion. Median age was 45 years (IQR, 38-68); 23 (85%) identified as non-Hispanic White, 3 (11%) Hispanic White, and 1 (4%) non-Hispanic Black. All participants identified as female. Participants valued a single clinician/institution managing BRCA1/2 PV-related needs (26, 96%) and same-day appointments (25, 93%). Participants preferred BRCA1/2 PV expertise among specialists managing ovarian and breast cancer screening (27, 100%), menopause management (25, 100%), and risk-reducing breast/gynecologic surgery (22, 96%). Twenty-one (78%) were interested in care at a hereditary cancer center. Qualitative analysis reinforced the value of physician expertise in clinical and psychological BRCA1/2 PV management and a centralized model of care that reduces lifelong logistical burden. Individuals with self-reported BRCA1/2 PVs preferred streamlined care through a single clinician/center, with expertise in cancer screening, risk-reducing surgery, and menopause management. A dedicated hereditary cancer program integrating clinical management, psychosocial support, and streamlined logistics may help improve care satisfaction, adherence, and confidence. These findings provide patient-centered guidance for optimizing care delivery in this high-risk population.