Standardization, Education, and Resourcing: The Way Forward for Implementing Polygenic Risk Scores in Hereditary...

The clinical utility and implementation of polygenic risk scores (PRS) in the setting of personalized risk assessment for hereditary breast and ovarian cancer (HBOC) continues to be investigated. We aimed to explore and analyze genetic healthcare providers' perspectives toward national implementation in Australia, acknowledging the vitality of provider knowledge, priorities, and support. A two-phase exploratory, cross-sectional, mixed-method study was conducted, consisting of semistructured interviews and a national online survey. Participants were recruited through professional networks. Interview schedule, survey design, and analyses were informed by the Consolidated Framework from Implementation Research (CFIR), the Theoretical Domains Framework (TDF) and the Expert Recommendations for Implementing Change (ERIC) compilation of facilitative strategies. Surveys were analyzed using descriptive and inferential statistics. Twenty-seven participants were interviewed and forty completed the survey. Participants were supportive of clinical implementation of PRS, with implementation enablers in sector culture, compatibility with practice and professional role, and providers' knowledge and skills. Concerns were raised on insufficient resourcing, equity and timeliness of delivery, and the safety and effectiveness of ovarian cancer PRS. Training and educating stakeholders and achieving standardization, including establishing an accredited test, national guidelines, care and funding models, and results reports, were implementation priorities. Findings will support the design of a provider-informed model or framework to plan and prioritize the next steps toward national implementation. Resourcing will be a key challenge. Current enablers in the sector, evidence-based implementation strategies, and direction of efforts toward these priorities of education and standardization will enhance implementation readiness and efficiency.