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

Purvis, R; Taylor, N; Young, MA; James, P; Forrest, LE

Author(s): Purvis, R; Taylor, N; Young, MA; James, P; Forrest, LE;
Details: Publication Year 2025-08,Volume 18,Issue #8,Page e70323
Journal Title: Clinical and Translational Science
Publication Type: Research article
Abstract: 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.
Publisher: Wiley
Keywords: Humans; Female; Risk Assessment/standards/methods; Cross-Sectional Studies; Australia; Middle Aged; Adult; *Health Personnel/education; Genetic Predisposition to Disease; *Genetic Testing/standards/methods; *Ovarian Neoplasms/genetics/diagnosis; Surveys and Questionnaires/statistics & numerical data; *Hereditary Breast and Ovarian Cancer Syndrome/genetics/diagnosis; *Breast Neoplasms/genetics/diagnosis; *Multifactorial Inheritance/genetics; Genetic Risk Score; genetic healthcare providers; hereditary breast and ovarian cancer; implementation determinants; polygenic risk scores; strategies and priorities
Department(s): Familial Cancer Centre
Publisher's Version: https://doi.org/10.1111/cts.70323
Open Access at Publisher's Site: https://doi.org/10.1111/cts.70323
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2025-09-09 06:01:16

Last Modified: 2025-09-09 06:01:24