Prospective Electronic Polygenic Risk Study - Second Phase (PEPRS2)

Scripps Translational Science Institute

Status: Not yet enrolling

Conditions: Coronary Artery Disease; Glaucoma

Treatments: Behavioral: Genetic risk assessment

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT05175651

IRB-21-7860

Details and patient eligibility

About

This study will investigate the role of polygenic risk scores (PRS) in preventive health.

Full description

This study will investigate the role of polygenic risk scores (PRS) in preventive health. Specifically, the purpose of this study is to determine whether knowledge of the degree of coronary artery disease (CAD) genetic risk or glaucoma genetic risk, as measured and conveyed by a PRS, influences patient and physician decision-making as well as clinical outcomes during short-term (6-month / 2-year) and long-term (3-year / 5-year) follow-up. A CAD and glaucoma PRS will be calculated for all study participants, with participants randomized to receiving either their CAD or glaucoma PRS. This study design allows for causal attribution of preventive actions and clinical outcomes to the receipt and degree of genetic risk. The design is informed by a pilot (MyGeneRank) and phase 1 (PEPRS first phase) study, with the key extensions being the addition of randomization and increasing the study population size to power causal association with long-term, hard clinical outcomes.

Enrollment: 10,000 estimated patients

Sex: All

Ages: 45 to 65 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• 45 ≥ Age < 65
• ASCVD Risk Score > 7.5% as defined by the standard pooled cohort equation
• Access to and ability to use a smartphone

Exclusion criteria

• Prior diagnosis of coronary disease as defined by prior myocardial infarction (STEMI or NSTEMI), or revascularization (stent or coronary artery bypass grafting)
• Prior diagnosis or treatment of glaucoma
• Cerebrovascular disease with history of ischemic stroke, TIA, carotid endarterectomy, carotid artery stenting
• Peripheral arterial disease with history of claudication, revascularization (stents or bypass)
• Current and active high-intensity statin prescription (rosuvastatin 20 mg, rosuvastatin 40 mg, atorvastatin 40 mg and atorvastatin 80 mg)
• Anti-PCSK9 therapy
• Lipid apheresis therapy
• Currently enrolled in a clinical trial for lipid lowering therapy
• Known statin intolerance to 2 or more statins in the past

Trial design

Primary purpose: Prevention

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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10,000 participants in 1 patient group

Subjects identified by Optum Health

Experimental group

Description:

10,000 individuals identified by Optum Health as likely meeting inclusion criteria by claims analysis.

Treatment:

Behavioral: Genetic risk assessment