Genome-informed risk reports for chil dren and adults using polygenic scores
Official title: eMERGE Administrative Supplement 2026-2027
Funded at Children's Hosp of Philadelphia · NIH-11505431 · Data updated 2026-11-12
This project shares genome-informed risk scores and reports with patients and clinicians to help understand hereditary and polygenic risk for autoimmune diseases and related conditions.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | July 1, 2020 |
| Project end | April 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $1,330,169 |
| NIH project number | 3U01HG011175-05S4 |
| Project ID | NIH-11505431 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults and children (0-21) with autoimmune-related risks who have not previously received genomic risk information and are engaged with CHOP or participating eMERGE sites.
✕Less likely to help
Patients who do not wish to receive genomic risk information or have no actionable care plan linked to their results may see limited benefit.
What this research studies
At CHOP, researchers are returning polygenic risk scores as part of a genome-informed risk assessment (GIRA) that combines PRS with medical history, EHR data, family history, and some monogenic risk information. The project has built a recruitment and engagement plan, with enhanced communication to patients and healthcare teams, and is working to integrate this information into the electronic health record. A dynamic education program addresses ethical, legal, and social implications of sharing genomic risk and how risk information can guide risk-reduction decisions. The effort expands to optimize participant recruitment, retention, and the return-of-results process across sites participating in the eMERGE consortium. The overall goal is to support long-term health outcomes through accessible genomic risk information.
Why it matters
Potential benefit: Patients could gain clearer, personalized insights about their genetic risk and practical steps to manage health based on their genomic information.
How similar studies have gone: Previous eMERGE projects have demonstrated feasibility of returning genomic risk information and integrating results into care with thoughtful consent and education.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Hakonarson, Hakon — Children's Hosp of Philadelphia
- Study coordinator: Hakonarson, Hakon
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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.