Perspectives of BRCA1/2 carriers on polygenic risk scores and multi-cancer early detection tests for ovarian cancer: a qualitative study

For individuals with pathogenic/likely pathogenic variants (PVs) in BRCA1/2, risk-reducing salpingo-oophorectomy (RRSO) substantially lowers ovarian cancer risk but involves complex, preference-sensitive decisions. Emerging approaches to risk stratification and early detection, such as polygenic risk scores (PRS) and multi-cancer early detection (MCED) tests, may offer additional information relevant to this decision. However, how BRCA1/2 carriers perceive and integrate these tools when considering RRSO remains poorly understood. Semi-structured interviews were conducted with 24 female participants with BRCA1/2 PVs and no prior RRSO (M = 35.8, SD = 7.3). Transcripts were analyzed using Inductive Content Analysis. PRS generated high interest and was perceived as potentially useful for informing the timing of RRSO. MCED, in contrast, was viewed more cautiously, raising concerns about test accuracy, psychological impact, accessibility and cost, and uncertainty around follow-up procedures, with clinician guidance shaping its use. PRS and MCED were viewed as additional information to contextualize the RRSO decision, rather than determine it. While PRS and MCED may add nuance to risk communication and support planning or reassurance, they remain secondary to established clinical and personal factors shaping RRSO decisions. While PRS appeared more acceptable, MCED implementation may depend on stronger evidence around test performance to support informed decision-making.