Patients’ and specialist physicians’ perspectives on the use of polygenic risk scores in clinical practice: a cross-sectional study

Le résumé fourni par la source

Polygenic risk scores (PRSs), which aggregate the effects of thousands of single-nucleotide variants, can identify individuals at increased genetic risk of common complex diseases. While attracting growing interest for risk-stratified screening and prevention, PRS is not a diagnostic tool, placing responsibility on healthcare providers to interpret results and guide patients in preventive and screening decisions. Although PRS information can support patients, it may also pose a psychological burden. In this study, we conducted the first cross-sectional survey of PRS perceptions in the Belgian (Walloon) healthcare context, assessing patients’ views in a large cohort ( N = 692) alongside specialist physicians’ (SPs; N = 52) perspectives on clinical use. The survey evaluated attitudes toward PRS-guided prevention and screening in cancer and noncancer scenarios, as well as perceptions of communication needs and implementation challenges. Descriptive and comparative analyses were used to assess differences between groups and scenarios. Patients more strongly supported preventive actions in cancer-related scenarios than in noncancer conditions (all FDR-adjusted p- value < 1e-4). In both contexts, they favored earlier and more frequent screening and lifestyle modifications while remaining cautious about preventive pharmacotherapy and prophylactic surgery. Neither patients nor SPs supported reduced screening in the low-PRS groups (all median scores ≤ 50 on a 0–100 scale), and both highlighted concerns about psychological burden and potential discrimination. SPs reported limited time to communicate complex risk information, whereas most patients preferred explanations from a genetics specialist or their attending physician, emphasizing expertise and trust. Individual factors, including age, sex, and family history, further influenced perceptions and willingness to act on PRS-guided interventions. These findings indicate the need for context-specific implementation strategies and support a model in which a single consultation with a genetics specialist provides a clear interpretation of PRS results, followed by the management of preventive actions by the patient’s primary care physician.

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