Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Jun 28.
doi: 10.1007/s40271-025-00747-5. Online ahead of print.

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

Rebecca Purvis  1   2 , Natalie Taylor  3 , Paul James  1   2 , Mary-Anne Young  4   5 , Laura E Forrest  6   7
Affiliations

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

Rebecca Purvis et al. Patient. .

Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

PubMed Disclaimer

Conflict of interest statement

Declarations. Funding: Open Access funding enabled and organized by CAUL and its Member Institutions. This research was conducted as part of a postdoctoral research program, funded by a PeterMac Foundation Lester Peters Scholarship and an Australian Government RTP Scholarship. Conflict of Interest: L.F. is an Editorial Board Member of The Patient. She was not involved in the selection of peer reviewers for the manuscript, nor any of the subsequent editorial decisions. The remaining authors declare no conflicts of interest. Data Policy and Availability: The de-identified data supporting the conclusions of this article will be made available by the authors on request. Ethics Approval: The study was conducted in accordance with the World Medical Association Declaration of Helsinki and approved by the Human Research Ethics Committee at the Peter MacCallum Cancer Centre, Victoria, Australia (HREC 64060/PMCC; approved October 2022). The privacy rights of all participants have been observed. Consent to Participate and Publish: Informed consent was obtained from all participants involved in this study. Author Contributions: Conceptualization, R.P., N.T., P.J., M.-A.Y. and L.F.; methodology, R.P., N.T., P.J., M-A.Y., and L.F.; validation, R.P. and L.F.; formal analysis, R.P. and L.F.; investigation, R.P. and L.F.; resources, N.T. and L.F.; data curation, R.P.; writing—original draft preparation, R.P.; writing—review and editing, R.P., N.T., P.J., M.-A.Y. and L.F.; visualization, R.P.; supervision, N.T., P.J., M-A.Y. and L.F.; project administration, R.P.; All authors have read and agreed to the published version of the manuscript.

Similar articles

See all similar articles

References

    1. Yoshida R. Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis. Breast Cancer. 2021;28(6):1167–80. - PubMed - DOI
    1. Daly MB, et al. Genetic/familial high-risk assessment: breast, ovarian, and pancreatic cancer V1.2020. National Comprehensive Cancer Network (NCCN), 2020. p. 119.
    1. Lilyquist J, et al. Common genetic variation and breast cancer risk-past, present, and future. Cancer Epidemiol Biomark Prev. 2018;27(4):380–94. - DOI
    1. Xiang R, et al. Recent advances in polygenic scores: translation, equitability, methods and FAIR tools. Genome Med. 2024;16(1):33. - PubMed - PMC - DOI
    1. Gallagher S, et al. Association of a polygenic risk score with breast cancer among women carriers of high- and moderate-risk breast cancer genes. JAMA Netw Open. 2020;3(7): e208501. - PubMed - PMC - DOI

LinkOut - more resources