Genetic risk score to guide heart disease prevention for people at intermediate risk
Polygenic Risk Score to Optimize Primary Prevention in Intermediate Risk Population (PERSONAL)
This project will test whether giving adults 40–69 with intermediate cardiovascular risk a polygenic risk score, shared with them and their doctors, helps prompt better prevention such as lifestyle changes or starting statins.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 204 (estimated) |
| Ages | 40 Years to 69 Years |
| Sex | All |
| Sponsor | University of Bern Academic / other |
| Locations | 2 sites (Bern and 1 other locations) |
| Trial ID | NCT07039123 on ClinicalTrials.gov |
What this trial studies
Adults 40–69 with intermediate 10‑year cardiovascular risk by SCORE2 are randomized 1:1 to either standard SCORE2-based risk communication or an integrated SCORE2 plus polygenic risk score (PRS-CAD) estimate. PRS-CAD is calculated from a blood sample using a validated genome-wide algorithm and combined with SCORE2 to generate a PRS-CAD-SCORE2 result. Risk is communicated to participants and their healthcare providers using a standardized tool, and participants with elevated combined risk are referred to lipid clinics; all participants receive written lifestyle guidance and follow-up visits for counseling and medication review. Study outcomes include changes in preventive actions (for example statin initiation and lifestyle changes) and risk reclassification over follow-up.
Who should consider this trial
Good fit: Adults aged 40–69 with intermediate SCORE2-estimated 10‑year cardiovascular risk, no prior cardiovascular disease, not currently on lipid-lowering therapy, and able to give informed consent in German or French (or with an interpreter) are ideal candidates.
Not a fit: People already on lipid-lowering therapy, with prior cardiovascular disease, very low or very high cardiovascular risk outside the intermediate range, or with severe chronic kidney disease are unlikely to benefit from this intervention.
Why it matters
Potential benefit: If successful, this approach could help identify people who would benefit from earlier or more intensive prevention, potentially reducing future heart attacks.
How similar studies have performed: Observational and genetic studies show PRS can predict coronary risk and reclassify some individuals, but randomized evidence that PRS disclosure improves prevention decisions or clinical outcomes is limited.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 40-69 years old * Intermediate cardiovascular risk based on SCORE2 or SCORE2-Diabetes * Able to give informed consent (understanding German or French or with an interpreter) * Written Informed Consent Exclusion Criteria: * Patient treated under lipid-lowering therapy (defined as statin, ezetimib, bempedoïc acid, PCSK-9 inhibitors) * History of previous cardiovascular disease: coronary artery disease (CAD), peripheral artery disease and ischemic stroke (including transitory ischemic stroke). * Chronic kidney disease (CKD) define as an estimated glomerular filtration rate (eGFR) of less than 30 ml/min or less than 60 ml/min with albuminuria patients with diabetes and end organ damage (classified as very high risk according to ESC guidelines). * Other participation in a clinical study related to CV risk or lifestyle interventions (e.g. diet, smoking cessation...) * Life expectancy of less than one year
Where this trial is running
Bern and 1 other locations
- University of Bern, Institute of Primary Health Care (BIHAM) — Bern, Switzerland (Recruiting)
- University of Lausanne, Centre Hospitalier Universitaire Vaudois (CHUV) — Lausanne, Switzerland (Not_yet_recruiting)
Study contacts
- Study coordinator: Elisavet Moutzouri, MD, PhD
- Email: elisavet.moutzouri@extern.insel.ch
- Phone: +41792725451
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.