Quick genetic answers for complex health conditions
Real-time genetic diagnosis at the point of care
This project helps doctors quickly use existing genetic information to understand and care for patients with complex health conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Geisinger Clinic NIH-funded |
| Lab location | 1 site (Danville, United States) |
| Project ID | NIH-11141208 on NIH RePORTER |
What this research studies
Patients and their families often face many challenges and hospital visits when dealing with complex health problems. This project aims to make it easier for doctors to know when and how to use genetic information that patients may already have. Researchers at Geisinger are using health records from 150,000 patients with existing genetic data to find patterns. By looking at a patient's symptoms and health history, the goal is to create a system that alerts doctors when genetic insights could be most helpful. This could reduce unnecessary tests and hospital visits, making care more efficient and less stressful.
Who could benefit from this research
Good fit: Ideal candidates are patients with complex, undiagnosed, or difficult-to-manage health conditions who may have existing genetic data in their medical records.
Not a fit: Patients without complex health conditions or those whose conditions are already well-understood and managed may not directly benefit from this specific approach.
Why it matters
Potential benefit: If successful, this could lead to faster, more accurate diagnoses for complex diseases, reducing stress and unnecessary medical procedures for patients and their families.
How similar studies have performed: While the use of existing genetic data in electronic health records for real-time clinical decision support is a developing area, similar approaches in bioinformatics and clinical data integration have shown promise in improving diagnostic pathways.
Where this research is happening
Danville, United States
- Geisinger Clinic — Danville, United States (Active)
Researchers
- Principal investigator: Williams, Marc S. — Geisinger Clinic
- Study coordinator: Williams, Marc S.
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 below.