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

> **NIH NIH R35** · HARVARD MEDICAL SCHOOL · 2020 · $210,318

## Abstract

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, ≥2.5) 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<2.5 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:** 10101914
- **Project number:** 3R35HG010706-02S1
- **Recipient organization:** HARVARD MEDICAL SCHOOL
- **Principal Investigator:** Jason L Vassy
- **Activity code:** R35 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $210,318
- **Award type:** 3
- **Project period:** 2019-09-01 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10101914

## Citation

> US National Institutes of Health, RePORTER application 10101914, Pragmatic randomized trial of polygenic risk scoring for common diseases in primary care (3R35HG010706-02S1). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10101914. Licensed CC0.

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