Using genetic risk scores to improve disease detection in primary care
Official title: Pragmatic randomized trial of polygenic risk scoring for common diseases in primary care
Funded at Boston VA Research Institute, INC. · NIH-10683380 · Data updated 2026-11-12
This study is looking to see if genetic testing can help identify people at high risk for common diseases like heart disease, diabetes, and breast cancer, so they can get helpful advice right away, while others will be watched for two years to see how they do.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston VA Research Institute, INC. NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | July 14, 2022 |
| Project end | June 30, 2025 |
| Funding year | 2023 |
| Award (this year) | $494,035 |
| NIH project number | 5R35HG010706-05 |
| Project ID | NIH-10683380 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals without a known diagnosis of coronary artery disease, atrial fibrillation, type 2 diabetes, breast cancer, colorectal cancer, or prostate cancer.
✕Less likely to help
Patients who already have a diagnosis of any of the six target diseases may not benefit from this research.
What this research studies
This research aims to develop and validate genetic risk scores for six common diseases, including coronary artery disease, atrial fibrillation, type 2 diabetes, and breast cancer. Patients without a known diagnosis of these diseases will undergo genetic testing to determine their risk levels. Those identified as high-risk will receive their results and clinical recommendations immediately, while others will be monitored for 24 months to compare outcomes. The goal is to see if early identification and management based on genetic risk can lead to better health outcomes.
Why it matters
Potential benefit: If successful, this research could lead to earlier detection and better management of common diseases, potentially improving patient outcomes.
How similar studies have gone: Previous research has shown promise in using genetic risk scores for disease prediction, indicating potential success for this approach.
Where this research is happening
-
Boston VA Research Institute, INC.
Boston, United States Active
Researchers
- Principal investigator: Vassy, Jason L — Boston VA Research Institute, INC.
- Study coordinator: Vassy, Jason L
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.