Laura E. Forrest

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

ABSTRACTThe 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.

Considering Clinical Implementation of Polygenic Scores in Hereditary Cancer Risk Assessment: Recipients’ Perspectives on Influencing Factors and Strategies

Polygenic scores (PGS) capture a proportion of the genomic liability for cancer in unselected and high-risk cohorts, with meaningful application in improving risk-stratified screening and management. However, there are significant evidence gaps regarding future clinical implementation. Despite being key interest-holders, recipient views are underrepresented. The objective of this study was to explore recipients' views on the clinical implementation of PGS for hereditary cancer risk assessment in Australian cancer genetics clinics. Three video-conferenced focus groups were conducted with recipients who had been given their breast and ovarian cancer PGS through the PRiMo trial. Nominal Group Technique was used to enable evaluation of implementation determinants and strategies, and priority setting. Descriptive and deductive content analyses were conducted utilising the Consolidated Framework for Implementation Research and the Expert Recommendations for Implementing Change compilation of facilitative strategies. Participants (N = 10) were female, with an average age of 36 years (range 18-70 years). Of these, 50% (N = 5) experienced a change in their hereditary cancer risk assessment due to their PGS. Participants prioritised the positive value and impact of PGS, and the behavioural characteristics of recipients, notably their knowledge and expectations of PGS and cancer genetics clinics, as major determinants of implementation success. Implementation strategies that prepared and supported recipients to access, engage, and use PGS were emphasised, with a focus on a clear results report, educational resources, in-clinic resources, and delivery of ongoing good clinical follow-up. Evidence-based strategies should be deployed to address recipients' priority barriers to the clinical implementation of PGS for hereditary cancer risk assessment. Centralising recipient voices in implementation design will improve effectiveness and success.