A Mixed-Methods Exploration of Stakeholder Experiences and Perspectives on Integrating Polygenic Breast Cancer Risk Scores into Swedish Clinical Practice

Objective: To explore women’s experiences following polygenic risk score (PRS) testing for breast cancer risk and to assess the knowledge, attitudes, practices (KAP), and implementation perspectives of medical professionals and healthcare decision-makers in Sweden. Methods: Convergent mixed-methods study combining quantitative survey data with qualitative thematic analysis of survey open-ended responses and focus group discussion (FGD) notes. Setting: Swedish healthcare context. Participants : 400 women receiving PRS results for a first Participants Feedback Survey; 289 women for the second Participants Feedback Survey, and 6 medical professionals/decision-makers for a KAP survey and FGD. Women completed two sequential online feedback surveys post-PRS result disclosure. Professionals completed an online KAP survey and participated in an FGD. Quantitative survey data were analysed using descriptive statistics. Qualitative data from open-ended survey questions and FGD notes were analysed using thematic analysis. Results: Participants generally valued participation in PRS screening and receiving PRS-test results, with 87% finding results interesting and 82% finding them valuable. However, only 56% found the results comprehensible, with qualitative data revealing widespread difficulty understanding probabilistic risk information despite high education levels. Negative emotional impact was generally minimal (85% felt calm), though some women with high risk according to PRS experienced significant anxiety. Major unmet needs included clearer explanations, actionable guidance, and better access to follow-up support from healthcare professionals. Professionals showed limited familiarity with PRS (67% not familiar) but recognized high potential utility. Readiness for implementation was mixed (3/6 moderately ready, 2/6 slightly ready, 1/6 very ready). Major implementation barriers included the lack of clinical guidelines (100%), the need for clinical utility evidence (100%), and cost/reimbursement issues. Conclusions: Breast cancer PRS testing holds potential for enhancing risk assessment in Sweden. Key challenges for clinical integration include clinician readiness, the development of clear guidelines, and improved participant comprehension and communication. PRS tests should be accompanied with clinical decision support both for patients as well for medical professionals. Addressing these will require person-centered communication tools, robust evidence of clinical utility, well-defined clinical pathways, investments in provider education, and equitable implementation strategies within the Swedish healthcare system.