General Practitioner perspectives on genomics in primary care: using polygenic risk scores to evaluate cancer risk
- Author(s)
- Ramsay, G; Brooks, R; Wade, C; Liew, JJM; Alphonse, P; McIntosh, JG; Forrest, L; Emery, J; Saya, S;
- Journal Title
- British Journal of General Practice
- Publication Type
- Online publication before print
- Abstract
- BACKGROUND: Polygenic Risk Scores (PRSs) enable personalisation of cancer risk, supporting risk stratification for melanoma, and colorectal, breast, and prostate cancers. Inclusion of PRS in cancer risk assessment can facilitate risk-appropriate cancer screening by incorporating individuals' age, sex, family history and genomic test results. General Practitioners (GPs) are the likely healthcare professionals to order PRS tests and deliver results to patients within existing preventative health models. AIM: Elucidate GP perspectives on the use of PRS to tailor cancer screening in the Australian primary care context. DESIGN AND SETTING: Thirty GPs were interviewed and were either PRS-naïve or had experience using PRSs in a research context. Participants had a broad spectrum of clinical experience and knowledge of genomics, reflecting the spectrum of experience and knowledge of GPs in Victoria, Australia. METHODS: Inductive and deductive thematic analysis was conducted and aligned to the Consolidated Framework for Implementation Research (CFIR). RESULTS: Common themes identified general practice being the appropriate setting for PRS-based approaches; personalised approaches to cancer risk can prompt discussions about positive lifestyle changes; and tailored risk reports are useful tools for the communication of complex health information. Barriers identified by GPs included time constraints on the delivery of preventative health care; education requirements to upskill GPs in genomics; possible psychosocial harms to patients identified as being at increased risk; life insurance implications; and added pressure on an already struggling health system. CONCLUSION: These findings provide insight into the requirements for implementation of PRSs in primary care, from the perspective of GPs.
- Department(s)
- Familial Cancer Centre
- Publisher's Version
- https://doi.org/10.3399/bjgp.2025.0159
- Open Access at Publisher's Site
https://doi.org/10.3399/bjgp.2025.0159- 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