Virtual genetic evaluations for children with rare disorders
Expanding Access to Genetic Evaluation Through Virtual Platforms
This program offers virtual genetic evaluations and first-line genome sequencing for young children in rural Texas who have hard-to-diagnose rare conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11362021 on NIH RePORTER |
What this research studies
Your child would meet with a team of genetic specialists through a web-based clinic called Consultagene so you do not have to travel far. The program will enroll about 100 children who have been difficult to diagnose and use genome sequencing as the first test to try to reach a diagnosis faster. Local front-line clinics will get training and facial-recognition tools to help spot features that suggest a genetic condition and speed referrals. If the approach works at the first site, the team plans to expand the virtual clinic model to El Paso and other partner sites.
Who could benefit from this research
Good fit: Children (0–11 years) in rural or remote areas of Texas with suspected or undiagnosed rare genetic conditions who have had difficulty accessing specialty genetics care.
Not a fit: Children without suspected genetic conditions, those who already have a clear genetic diagnosis, or families living outside the Texas service area are unlikely to benefit from this program.
Why it matters
Potential benefit: If successful, this could shorten the time to diagnosis and help children get earlier treatments, therapies, or supportive services.
How similar studies have performed: Tele-genetics programs and using genome sequencing as a first-line test have improved diagnosis rates in other settings, but combining virtual clinics with facial-recognition support for front-line providers is a newer approach.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Lalani, Seema R — Baylor College of Medicine
- Study coordinator: Lalani, Seema R
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.