# Pragmatic randomized trial of polygenic risk scoring for common diseases in primary care

> **NIH NIH R35** · BOSTON VA RESEARCH INSTITUTE, INC. · 2024 · $255,000

## Abstract

PROJECT SUMMARY (unchanged from currently approved project)
In this project, we will develop and validate clinical polygenic risk scores (PRS) for six common
diseases: coronary artery disease, atrial fibrillation, type 2 diabetes mellitus, breast cancer,
colorectal cancer, and prostate cancer. This test will then be used in a point-of-care pragmatic
randomized controlled trial of PRS testing and linked clinical recommendations compared to
usual care (UC). Enrolled patients without a known diagnosis of any of the six target diseases
will undergo clinical PRS genotyping. Patients with at least one PRS indicating high risk (odds
ratio, ORPRS, ≥2.0) will be randomized to have them and their primary care provider receive their
high-PRS results at baseline (PRS arm) or after a 24-month observation period (UC arm),
reported along with evidence-based screening and management recommendations. Patients
will be observed for 24 months for the primary clinical outcome of time-to-diagnosis of any one
of the 6 target diseases. Secondary clinical outcomes will include changes in clinical
management and patient health behaviors. Enrolled patients with all ORPRS<2.0 will be observed
as concurrent controls for the same outcomes. Additional implementation outcomes will be
collected over the course of the study, including provider knowledge and beliefs about PRS,
patient activation, medication adherence, and costs.

## Key facts

- **NIH application ID:** 11045155
- **Project number:** 3R35HG010706-05S1
- **Recipient organization:** BOSTON VA RESEARCH INSTITUTE, INC.
- **Principal Investigator:** Jason L Vassy
- **Activity code:** R35 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $255,000
- **Award type:** 3
- **Project period:** 2022-07-14 → 2026-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11045155

## Citation

> US National Institutes of Health, RePORTER application 11045155, Pragmatic randomized trial of polygenic risk scoring for common diseases in primary care (3R35HG010706-05S1). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/11045155. Licensed CC0.

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