GP perspectives on genomics in primary care: a qualitative study on using polygenic risk scores to evaluate cancer...

A polygenic risk score (PRS) enables personalisation of cancer risk and supporting risk stratification for melanoma, colorectal, breast, and prostate cancers. Including a PRS in a cancer risk assessment can facilitate risk-appropriate cancer screening by incorporating an individual's age, sex, family history, and genomic test results. GPs are the likely healthcare professionals to order PRS tests and deliver results to patients within existing preventative health models.

To elucidate GPs' perspectives on the use of PRSs to tailor cancer screening in the Australian primary care context.

A qualitative study undertaken in Victoria, Australia with GPs involved in a series of studies and clinical trials evaluating PRS.

Thirty GPs were interviewed; they were either PRS naive or had experience of 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. Inductive and deductive thematic analysis was conducted and aligned to the Consolidated Framework for Implementation Research.

Common themes identified were: general practice is 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.

These findings provide insight into the requirements for the implementation of PRSs in primary care, from the perspective of GPs.