An interventional study of Polygenic Risk Score for Coronary Artery Disease (PRS-CAD) and Standardized Risk Communication Tool (SCORE2) in Primary Prevention of Cardiovascular Disease, sponsored by University of Bern. Active, not recruiting at 2 sites in Switzerland. Open to participants aged 40 Years to 69 Years. Per ClinicalTrials.gov, last updated 2026-06-30.
Sponsored by University of Bern · Not applicable, Interventional, and Prevention
The goal of this clinical trial is to determine whether incorporating a polygenic risk score (PRS) can optimize primary cardiovascular disease prevention in individuals with intermediate cardiovascular risk.
The main questions it aims to answer are:
Participants will:
Coronary artery disease (CAD) remains the leading cause of mortality worldwide. While current cardiovascular disease (CVD) prevention guidelines rely on clinical risk scores such as SCORE2, these tools may underestimate or overestimate risk in individuals with intermediate clinical risk. Polygenic risk scores (PRS) aggregate the effect of multiple common genetic variants and may provide additional predictive value when combined with traditional risk assessment.
This randomized controlled trial evaluates whether incorporating a PRS for CAD (PRS-CAD) into clinical decision-making improves cardiovascular risk stratification and leads to better primary prevention in individuals with intermediate estimated 10-year cardiovascular risk.
Participants aged 40-69 years with intermediate CVD risk based on the SCORE2 algorithm will be randomized 1:1 into two groups. In the intervention arm, the PRS-CAD will be calculated using a validated genome-wide algorithm and integrated with the SCORE2 risk to generate a combined PRS-CAD-SCORE2 estimate. Risk will be communicated to participants and their healthcare providers using a standardized, structured communication tool developed by the study team. Participants with elevated combined risk will be referred to lipid clinics for further evaluation. In the control arm, participants will receive standard SCORE2-based risk communication, without inclusion of genetic information.
All participants will receive written lifestyle guidance . Physicians will receive the results in a structured format.
The primary endpoint is the change in SCORE2 from baseline to 15 months. Secondary endpoints include changes in blood pressure, lipid levels, glucose, HbA1c, hs-CRP, BMI, weight, adherence to the Mediterranean diet (Predimed score), physical activity (IPAQ), tobacco abstinence, medication adherence (MARS), and psychological measures (DASS-21, motivation for change, satisfaction with risk communication). Prescription rates of statins and other preventive therapies, new diagnoses (e.g., diabetes), and new cardiovascular events will also be recorded. Epigenomic analyses will be conducted to explore interactions between genetic risk, lifestyle, and DNA methylation.
All outcomes will be assessed at 15 months with blinded outcome assessment. The study aims to inform the clinical utility of integrating PRS into preventive cardiovascular care and support the move toward personalized medicine in primary prevention.
35 studies on the registry are indexed under Genetic Risk Score; 29 are open to participants now.
This study's enrollment of 205 is below the median of 495 across 18 interventional studies indexed under Genetic Risk Score.
Browse Genetic Risk Score studies →University of Bern is the lead sponsor of 207 studies on the registry; 47 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Exclusion Criteria:
Participants in this arm will receive cardiovascular risk assessment using a combination of traditional clinical risk factors (SCORE2 algorithm) and a polygenic risk score for coronary artery disease (PRS-CAD). The combined risk (PRS-CAD-SCORE2) will be communicated using a structured communication tool developed by the study team. Participants and their healthcare providers will receive the results, and those with elevated risk will be referred to a lipid consultation. Lifestyle guidance and educational materials will also be provided.
Diagnostic Test: Polygenic Risk Score for Coronary Artery Disease (PRS-CAD) · Behavioral: Standardized Risk Communication Tool (SCORE2)
Participants in this arm will receive standard cardiovascular risk assessment using the SCORE2 algorithm only. Risk results will be communicated using the same structured communication tool, without inclusion of genetic information. No polygenic risk score will be calculated or disclosed. Participants and their healthcare providers will receive the standard risk results and general lifestyle recommendations.
Behavioral: Standardized Risk Communication Tool (SCORE2)
A polygenic risk score will be calculated based on genome-wide genotyping and combined with SCORE2 clinical risk factors to estimate personalized cardiovascular risk. The combined risk (PRS-CAD-SCORE2) will be communicated to participants and their healthcare providers using a standardized communication tool. Participants with elevated risk will be referred to a lipid clinic.
Participants will receive risk communication based solely on clinical risk factors using the SCORE2 algorithm. The same structured communication tool will be used (without genetic data), along with general lifestyle guidance.
Change in SCORE2 between baseline and 18 months
Mean change in SCORE2 cardiovascular risk score from baseline to 18-month follow-up, comparing the intervention (PRS-CAD + SCORE2) and control (SCORE2 only) arms.
Time frame: 18 months
Change in systolic blood pressure
Measured using validated automated oscillometric device at rest
Time frame: Baseline to 18 months
Change in diastolic blood pressure
Measured using validated automated oscillometric device at rest
Time frame: Baseline to 18 months
Change in total cholesterol
Measured via fasting venous blood sample
Time frame: Baseline to 18 months
Change in HDL cholesterol (HDL-C)
Measured via fasting venous blood sample
Time frame: Baseline to 18 months
Change in LDL cholesterol (LDL-C)
Measured via fasting venous blood sample
Time frame: Baseline to 18 months
Change in triglyceride levels
Measured via fasting venous blood sample
Time frame: Baseline to 18 months
Change in fasting glucose
Measured via fasting venous blood sample
Time frame: Baseline to 18 months
Change in HbA1c
Measured via venous blood sample
Time frame: Baseline to 18 months
Change in high-sensitivity C-reactive protein (hs-CRP)
Measured via fasting venous blood sample
Time frame: Baseline to 18 months
Change in DNA methylation patterns
Assessment of genome-wide DNA methylation changes from peripheral blood samples. DNA methylation will be analyzed in relation to adherence to the Mediterranean diet (measured via Predimed 14-item questionnaire) and its interaction with polygenic risk scores for coronary artery disease.
Time frame: Baseline to 18 months
Tobacco abstinence status
Self-reported smoking status assessed at follow-up
Time frame: Baseline to 18 months
Change in body mass index (BMI)
Calculated using measured weight and height (kg/m²)
Time frame: Baseline to 18 months
Change in body weight
Measured in kilograms using calibrated scale
Time frame: Baseline to 18 months
Change in dietary adherence
Measured by the Predimed 14-item questionnaire (score range: 0-14; higher scores indicate greater adherence to the Mediterranean diet)
Time frame: Baseline to 18 months
Change in physical activity level
Assessed using the International Physical Activity Questionnaire (IPAQ, long form; score expressed in MET-minutes/week; higher values indicate greater physical activity).
Time frame: Baseline to 18 months
Change in medication adherence
Assessed using the Medication Adherence Report Scale (MARS, 5-item version) score range: 5-25; higher scores indicate better adherence.
Time frame: Baseline to 18 months
Change in motivation for lifestyle change
Measured using the 32-item Readiness for Change Questionnaire; score range depends on subscale (e.g., Precontemplation, Contemplation, Action); higher scores indicate greater readiness for behavior change.
Time frame: Baseline to 18 months
Change in psychological well-being
Assessed using the Depression Anxiety Stress Scale (DASS-21); each subscale score ranges from 0 to 42, with higher scores indicating greater severity of symptoms.
Time frame: Baseline to 18 months
Participant satisfaction with the intervention
Measured via structured self-reported survey on a 5-point Likert scale (1 = not satisfied at all, 5 = very satisfied).
Time frame: Baseline to 18 months
Number of visits to healthcare providers (HCPs)
Self-reported and verified via medical records when available
Time frame: Baseline to 18 months
Initiation of new statin therapy
Number of participants with newly prescribed statins during follow-up period
Time frame: Baseline to 18 months
Initiation of new antihypertensive therapy
Number of participants with newly prescribed antihypertensive medications during follow-up period
Time frame: Baseline to 18 months
Initiation of new antidiabetic therapy
Number of participants with newly prescribed antidiabetic medications (oral or injectable) during follow-up period
Time frame: Baseline to 18 months
Incidence of new cardiovascular events
Number of participants with new cardiovascular events defined as new diagnosis of myocardial infarction, stroke, or other major adverse cardiovascular event (MACE); verified through clinical records
Time frame: Baseline to 18 months
Incidence of newly diagnosed diabetes mellitus
Number of participants with newly diagnosed type 2 diabetes confirmed by GP or medical record during follow-up
Time frame: Baseline to 18 months
Plan to share: No — IPD will only be shared after official request
This study is active, not recruiting, as verified in Jul 2025. You cannot join it, but the record below documents what was studied.
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