Finding undiagnosed inherited genetic conditions in health records
Translating the Clinical Knowledge of Mendelian Diseases to Real-world EHR Data to Improve Identification of Undiagnosed Patients
This project uses electronic health records to find adults who may have undiagnosed inherited genetic conditions so they can get appropriate genetic testing and care.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University Medical Center NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project ID | NIH-11160461 on NIH RePORTER |
What this research studies
I often wonder why my symptoms haven't led to a clear diagnosis; this project looks through doctors' electronic health records to spot patterns that match what we know about inherited (Mendelian) diseases. The team will translate clinical descriptions from genetics resources into computer-friendly searches and use algorithms to flag medical records that match those patterns. If your care is in a participating health system, the researchers could identify you from your records and recommend follow-up genetic evaluation or testing. The aim is to shorten long diagnostic journeys and connect people to targeted treatments or genetic counseling sooner.
Who could benefit from this research
Good fit: Adults (21+) with complex, unexplained symptoms, a long history without diagnosis, or unusual patterns in their electronic health records are the most likely to be identified.
Not a fit: People under 21, those already with a confirmed genetic diagnosis, or individuals whose care is not captured in participating health systems are unlikely to benefit directly.
Why it matters
Potential benefit: Could help people get diagnosed earlier, receive targeted treatments, and avoid long diagnostic odysseys.
How similar studies have performed: Previous projects have used EHR data and genetics to find undiagnosed patients with some success, and this project aims to scale and better align clinical descriptions with real-world records.
Where this research is happening
Nashville, United States
- Vanderbilt University Medical Center — Nashville, United States (Active)
Researchers
- Principal investigator: Bastarache, Lisa — Vanderbilt University Medical Center
- Study coordinator: Bastarache, Lisa
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.