Clinical trial · Interventional
The Genomic Medicine at VA Study
Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
NCT04331535CI-TRIAL-00061199GenoVAunknownN/AClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
This trial will determine the clinical effectiveness of polygenic risk score testing among patients at high genetic risk for at least one of six diseases (coronary artery disease, atrial fibrillation, type 2 diabetes mellitus, colorectal cancer, breast cancer, or prostate cancer), measured by time-to-diagnosis of prevalent or incident disease over 24 months.
Conditions
Conditions (6)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Atrial Fibrillation | — | UNRESOLVED | — |
| Breast Cancer | Malignant Breast Neoplasm | CURATED_EXACT | 0.92 |
| Colorectal Cancer | Malignant Colorectal Neoplasm | CURATED_BROADER | 0.80 |
| Coronary Artery Disease | — | UNRESOLVED | — |
| Prostate Cancer | Malignant Prostate Neoplasm | CURATED_EXACT | 0.92 |
| Type 2 Diabetes | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Polygenic risk score (PRS) | Diagnostic Test | — | UNRESOLVED |
Design
Arms and outcomes
Arms (4)
- type
- EXPERIMENTAL
- label
- Polygenic risk score (PRS) - high risk stratum
- description
- Patient-participants in the PRS-high arm and their providers will receive their high-PRS results at baseline, along with educational resources about the results.
- interventionNames
- Diagnostic Test: Polygenic risk score (PRS)
- type
- ACTIVE_COMPARATOR
- label
- Usual care (UC) - high risk stratum
- description
- Patient-participants in the UC-high arm and their providers will receive their high-PRS results after a 24-month observation period, along with educational resources about the results.
- interventionNames
- Diagnostic Test: Polygenic risk score (PRS)
- type
- EXPERIMENTAL
- label
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 50 Years
- Maximum age
- 70 Years
Show eligibility criteria text
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
References
Publications (152)
- BACKGROUNDChatterjee N, Shi J, Garcia-Closas M. Developing and evaluating polygenic risk prediction models for stratified disease prevention. Nat Rev Genet. 2016 Jul;17(7):392-406. doi: 10.1038/nrg.2016.27. Epub 2016 May 3. PMID 27140283
- BACKGROUNDDudbridge F. Polygenic Epidemiology. Genet Epidemiol. 2016 May;40(4):268-72. doi: 10.1002/gepi.21966. Epub 2016 Apr 7. PMID 27061411
- BACKGROUNDKotze MJ, Luckhoff HK, Peeters AV, Baatjes K, Schoeman M, van der Merwe L, Grant KA, Fisher LR, van der Merwe N, Pretorius J, van Velden DP, Myburgh EJ, Pienaar FM, van Rensburg SJ, Yako YY, September AV, Moremi KE, Cronje FJ, Tiffin N, Bouwens CS, Bezuidenhout J, Apffelstaedt JP, Hough FS, Erasmus RT, Schneider JW. Genomic medicine and risk prediction across the disease spectrum. Crit Rev Clin Lab Sci. 2015;52(3):120-37. doi: 10.3109/10408363.2014.997930. Epub 2015 Jan 19. PMID 25597499
- BACKGROUNDSchork AJ, Schork MA, Schork NJ. Genetic risks and clinical rewards. Nat Genet. 2018 Sep;50(9):1210-1211. doi: 10.1038/s41588-018-0213-x. No abstract available. PMID 30158681
- BACKGROUNDTorkamani A, Wineinger NE, Topol EJ. The personal and clinical utility of polygenic risk scores. Nat Rev Genet. 2018 Sep;19(9):581-590. doi: 10.1038/s41576-018-0018-x. PMID 29789686
- BACKGROUNDKnowles JW, Ashley EA. Cardiovascular disease: The rise of the genetic risk score. PLoS Med. 2018 Mar 30;15(3):e1002546. doi: 10.1371/journal.pmed.1002546. eCollection 2018 Mar. PMID 29601582
- BACKGROUNDKhera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, Natarajan P, Lander ES, Lubitz SA, Ellinor PT, Kathiresan S. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018 Sep;50(9):1219-1224. doi: 10.1038/s41588-018-0183-z. Epub 2018 Aug 13.