Using genetic testing to assess disease risk in patients
Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
This study is testing if a genetic risk score can help people aged 50-70 who are at high risk for certain diseases find out their risk sooner and improve their health outcomes.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 1076 (estimated) |
| Ages | 50 Years to 70 Years |
| Sex | All |
| Sponsor | Boston VA Research Institute, Inc. Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT04331535 on ClinicalTrials.gov |
What this trial studies
This trial aims to evaluate the clinical effectiveness of polygenic risk score (PRS) testing in patients aged 50-70 who are at high genetic risk for diseases such as coronary artery disease, atrial fibrillation, type 2 diabetes, colorectal cancer, and breast cancer. By measuring the time-to-diagnosis of these prevalent or incident diseases over a 24-month period, the study seeks to determine how well PRS can predict disease risk and improve patient outcomes. The research will involve a randomized controlled trial to assess both the effectiveness and implementation of PRS in clinical settings.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals aged 50-70 with no known diagnosis of coronary artery disease, atrial fibrillation, type 2 diabetes, colorectal cancer, breast cancer, or prostate cancer.
Not a fit: Patients who are younger than 50, older than 70, or have a known diagnosis of any of the six diseases of interest will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved early detection and prevention strategies for patients at high genetic risk for common diseases.
How similar studies have performed: Other studies have shown promise in using polygenic risk scores for disease prediction, suggesting potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Age 50-70 years at enrollment * No known diagnosis of the following conditions, initially screened by the International Classification of Disease (ICD) codes or other electronic health record (EHR) data using validated methods and then confirmed with potential patient-participants during recruitment: coronary artery disease, atrial fibrillation, type 2 diabetes, colorectal cancer, breast cancer, prostate cancer Exclusion Criteria: * Patients will be ineligible if they: * Have a known diagnosis of at least one of the six diseases of interest * Are younger than age 50 or older than age 70 * Are pregnant * Are incarcerated or institutionalized
Where this trial is running
Boston, Massachusetts
- VA Boston Healthcare System — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Principal investigator: Jason L. Vassy, MD, MPH, SM — Harvard Medical School (HMS and HSDM)
- Study coordinator: Jason L. Vassy, MD, MPH, SM
- Email: jvassy@partners.org
- Phone: 857-364-2561
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.