A cross-sectional study published in BMC Medical Genomics provides the first detailed assessment of how patients and specialist physicians in the Walloon region of Belgium perceive the clinical use of polygenic risk scores. The research, led by Arina Nostaeva and colleagues, surveyed 692 patients from a large cohort and 52 specialist physicians to evaluate attitudes toward using these genetic tools for risk-stratified screening and prevention.

Polygenic risk scores aggregate the effects of thousands of single-nucleotide variants to identify individuals at increased genetic risk for common complex diseases. While these scores are not diagnostic tools, they are attracting growing interest for guiding risk-stratified screening and preventive strategies. The study emphasizes that the responsibility for interpreting these results and guiding patients in preventive decisions rests with healthcare providers. Although PRS information can support patients in making informed choices, the research notes that it may also pose a psychological burden, a concern that was a central focus of the survey.

The study design involved a comparative analysis of perspectives between patients and specialist physicians in both cancer and noncancer scenarios. The survey evaluated attitudes toward PRS-guided prevention and screening, as well as perceptions of communication needs and implementation challenges. Descriptive and comparative analyses were used to assess differences between the two groups and across different disease contexts.

Results indicated that patients more strongly supported preventive actions in cancer-related scenarios than in noncancer conditions, with all FDR-adjusted p-values below 1e-4. In both contexts, patients favored earlier and more frequent screening along with lifestyle modifications. However, they remained cautious about more invasive interventions such as preventive pharmacotherapy and prophylactic surgery.

Both patients and specialist physicians expressed concerns about the psychological burden and potential discrimination associated with polygenic risk scores. Neither group supported reduced screening for individuals in the low-PRS groups, with all median scores at 50 or below on a 0–100 scale.

Specialist physicians reported limited time to communicate complex risk information to patients, identifying this as a significant implementation challenge. In contrast, most patients preferred explanations from a genetics specialist or their attending physician, emphasizing the importance of expertise and trust in the communication process.

Individual factors, including age, sex, and family history, further influenced perceptions and willingness to act on PRS-guided interventions. The study concludes that there is a need for context-specific implementation strategies to address these varying perspectives. The findings 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.

Subject of Research: Perceptions of polygenic risk scores in clinical practice among patients and specialist physicians in Belgium

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

Article References: Nostaeva, A., Beuriot, J., Jerusalem, G., Azarzar, S., Donneau, A.-F., Rahmouni, S., The Ensemble Team, Durieux, R., Firket, P., Gendebien, Z., Georges, M., Gillet, P., Gilon, M., Gosseries, O., Guiot, J., Jacquinet, A., Kolh, P., Mainjot, A., Mendez, M., … Vieujean, S. (2026). Patients’ and specialist physicians’ perspectives on the use of polygenic risk scores in clinical practice: a cross-sectional study. BMC Medical Genomics. https://doi.org/10.1186/s12920-026-02454-y

Image Credits: AI Generated

DOI: 10.1186/s12920-026-02454-y

Keywords: polygenic risk scores, genetic screening, clinical practice, patient perspectives, specialist physicians, preventive medicine, genetic counseling, healthcare implementation, Belgium, cross-sectional study, Patients, specialist