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 a 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 valued participation in PRS testing and receiving PRS-test results, with 87% finding results interesting and 82% finding them valuable. Although most participants found the explanations understandable (approximately 75% in Survey 1 and 82% in Survey 2), qualitative comments indicated that some had difficulty interpreting probabilistic risk information, including participants who self-identified as highly educated or medically trained. Negative emotional impact was generally minimal (85% felt calm), though some women with high PRS risk experienced anxiety. Major unmet needs included clearer explanations, actionable guidance, and better access to follow-up support from healthcare. Professionals were cautiously positive: in the KAP survey, 5 of 6 were familiar with the concept of PRS, but confidence in the health system's readiness to integrate it was limited. The main barriers raised were the absence of clinical guidelines and the need for evidence of clinical utility.

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.

CLINICAL TRIAL NUMBER: Not applicable.