Utility and Effectiveness of Polygenic Risk Scoring (PRS) for Coronary Artery Disease (CAD)

MyOme

Status: Invitation-only

Conditions: Coronary Artery Disease; Cardiovascular Diseases; Myocardial Infarction; Polygenic Risk Score; Coronary Disease; Heart Diseases

Treatments: Genetic: Disclosure of integrate risk score for coronary artery disease

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT06542432

004

Details and patient eligibility

About

The goal of this study is to assess the benefit to physicians and patients of adding an integrated risk score (IRS) to existing coronary artery risk tools by conducting a randomized prospective study. IRS combines both an individual's coronary artery disease (CAD) polygenic risk score (PRS) and clinical risk factors, like cholesterol levels and age. This study will examine to what extent IRS knowledge impacts physician/provider behavior as well as clinical outcomes including cholesterol levels and incident heart disease.

Full description

This is a 1:1 randomized controlled trial of participants with no known coronary artery disease, are not on lipid-lowering therapy, and do not have LDL-C over 190mg/dL. Participants will be recruited from cohorts that have been previously genotyped and found to have either elevated or average risk based on a CAD IRS. Participants will be randomized into two equal groups: one group will receive their IRS result for coronary artery disease at baseline, and the other group will receive their ASCVD Pooled Cohorts Equation result at baseline and CAD IRS result approximately 3 years after enrollment. Subject data will be collected for 5 years from the time of enrollment.

Enrollment: 1,000 estimated patients

Sex: All

Ages: 40 to 70 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• ASCVD risk ≥5% and below 20% over the following 10 years as defined by the standard pooled cohort equations
• No previous CAD event (inclusive of myocardial infarction, diagnosis of CAD, stroke)
• Previously genotyped as part of a research study that enables recontact of participants
• Receiving primary care at a participating institution.

Exclusion criteria

• Prior diagnosis of CAD: inclusive of prior myocardial infarction and revascularization (stent or coronary artery bypass grafting)
• Currently treated with lipid-lowering therapy, including statins, ezetimibe, PCSK9 inhibitors, inclisiran, or bempedoic acid
• Future use of statins contraindicated
• Prior diagnosis of Cerebrovascular disease: Inclusive of history of ischemic stroke, transient ischaemic attack (TIA), carotid endarterectomy, carotid artery stenting
• Prior diagnosis of Peripheral arterial disease: Inclusive of history of claudication, revascularization (stents or bypass)
• Severe hypercholesterolemia (LDL-C ≥ 190 mg/dL)

Trial design

Primary purpose: Prevention

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: Single Blind

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1,000 participants in 2 patient groups

Experimental: Intervention

Experimental group

Description:

Participants will receive their integrated risk score result for coronary artery disease.

Treatment:

Genetic: Disclosure of integrate risk score for coronary artery disease

No Intervention: Control

No Intervention group

Description:

Participants will only receive standard of care ASCVD Pooled Cohorts Equation (ASCVD PCE), and disclosure of integrated risk score result will be deferred until 3 years after enrollment.