Polygenic Risk Score for Optimizing Primary Prevention in Intermediate-Risk Populations

NCT ID: NCT07039123

Last Updated: 2025-07-25

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 204 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-07-08
• Study Completion Date: 2027-10-31

Brief Summary

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:

• Can a polygenic risk score improve risk stratification in intermediate-risk individuals?
• Does disclosing polygenic risk information to patients and physicians lead to better preventive interventions (e.g., statin use, lifestyle changes)? Researchers will compare outcomes in participants with PRS disclosure versus standard risk assessment to see if PRS-guided prevention leads to improved cardiovascular risk management.

Participants will:

• Undergo baseline cardiovascular risk assessment
• Provide a blood sample for PRS calculation
• Complete follow-up visits for lifestyle counseling, medication review, and risk reassessment

Detailed Description

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.

Conditions

Primary Prevention of Cardiovascular Disease

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: PREVENTION
• Blinding Strategy: TRIPLE

Study Groups

Polygenic Risk Score Combined with SCORE2

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.

Group Type: EXPERIMENTAL

Polygenic Risk Score for Coronary Artery Disease (PRS-CAD)

Intervention Type: DIAGNOSTIC_TEST

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.

Standardized Risk Communication Tool (SCORE2)

Intervention Type: BEHAVIORAL

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.

SCORE2-Based Risk Assessment

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.

Group Type: ACTIVE_COMPARATOR

Standardized Risk Communication Tool (SCORE2)

Intervention Type: BEHAVIORAL

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.

Interventions

Polygenic Risk Score for Coronary Artery Disease (PRS-CAD)

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.

Intervention Type: DIAGNOSTIC_TEST

Standardized Risk Communication Tool (SCORE2)

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.

Intervention Type: BEHAVIORAL

Eligibility 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

• Minimum Eligible Age: 40 Years
• Maximum Eligible Age: 69 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University of Bern

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Nicolas Rodondi, MD

Role: STUDY_CHAIR

University hospital of Bern

Locations

University of Bern, Institute of Primary Health Care (BIHAM)

Bern, , Switzerland

Site Status: RECRUITING

University of Lausanne, Centre Hospitalier Universitaire Vaudois (CHUV)

Lausanne, , Switzerland

Site Status: NOT_YET_RECRUITING

Countries

Switzerland

Central Contacts

Elisavet Moutzouri, MD, PhD

Role: CONTACT

elisavet.moutzouri@extern.insel.ch

+41792725451

Facility Contacts

Elisavet Moutzouri

Role: primary

elisavet.moutzouri@extern.insel.ch

+41 31 684 67 36

Baris Gencer

Role: primary

baris.gencer@unil.ch

+41 21 314 00 10

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Related Links

https://www.gov.uk/government/consultations/advancing-our-health-prevention-in-the-2020s/advancing-our-health-prevention-in-the-2020s-consultation-document

UK government consultation paper outlining a national strategy to shift healthcare towards prevention, including the potential role of genomics and polygenic risk scores in personalized disease prevention.

https://www.heartfoundation.org.au/heart-age-calculator

Heart Age Calculator

http://tmctohealth.com/wp-content/uploads/2017/03/TMC-To-Health_Readiness-for-Change-Questionnaire.pdf.

Readiness for Change Questionnaire

Other Identifiers

PERSONAL-2025-00601

Identifier Type: -

Identifier Source: org_study_id