Improving diagnosis for rare genetic disorders using electronic health records
Using electronic medical record data to shorten diagnostic odysseys for rare genetic disorders in children and adults in two New York City health care settings
This study is working to speed up the diagnosis of rare genetic disorders in kids and adults by using health records and smart computer programs to find patients who might need testing, and it also aims to help doctors learn more about genetic testing.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11021050 on NIH RePORTER |
What this research studies
This research aims to reduce the time it takes to diagnose rare genetic disorders in children and adults by utilizing electronic medical records. The team has developed algorithms that analyze health data to identify patients who may have undiagnosed genetic conditions. By creating a specialized outpatient clinic, they will evaluate patients flagged by these algorithms and provide necessary genetic testing. The study also includes educating pediatricians about genetic testing and assessing the effectiveness of the new diagnostic approach.
Who could benefit from this research
Good fit: Ideal candidates for this research include children aged 0-12 years who are suspected of having undiagnosed rare genetic conditions.
Not a fit: Patients with diagnosed genetic disorders or those outside the targeted age range may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could significantly shorten the time it takes for patients to receive a diagnosis for rare genetic disorders.
How similar studies have performed: Previous research has shown promise in using electronic health records and algorithms to improve diagnostic processes, indicating potential success for this approach.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Gelb, Bruce D — Icahn School of Medicine at Mount Sinai
- Study coordinator: Gelb, Bruce D
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.