Broad–Geisinger Clinical Genome Knowledge Resource
Broad-Geisinger Clinical Genome Resource
['FUNDING_OTHER'] · BROAD INSTITUTE, INC. · NIH-11179153
Building a reliable, public resource to help doctors and patients understand what genetic changes mean for health.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BROAD INSTITUTE, INC. (nih funded) |
| Locations | 1 site (CAMBRIDGE, UNITED STATES) |
| Trial ID | NIH-11179153 on ClinicalTrials.gov |
What this research studies
This project gathers and organizes information about genetic differences and explains what those changes may mean for disease so I and my doctor can better understand test results. The team develops shared standards for interpreting genes and variants and curates expert-reviewed classifications. They link and share genomic and clinical data across clinics and researchers to improve the knowledge base. The resource is expanded, integrated, and made available to clinicians, researchers, and patients nationwide and beyond.
Who could benefit from this research
Good fit: People who have had genetic testing, have a suspected genetic condition, or want to contribute their genetic and health data are most relevant to this effort.
Not a fit: Patients without genetic testing or whose conditions are unrelated to genetic variation are unlikely to see direct benefit from this project.
Why it matters
Potential benefit: If successful, patients could get clearer, more consistent genetic test results and treatment guidance based on up-to-date expert knowledge.
How similar studies have performed: This work builds on ClinGen, an ongoing national effort since 2013 that has already improved how clinicians interpret and share variant information.
Where this research is happening
CAMBRIDGE, UNITED STATES
- BROAD INSTITUTE, INC. — CAMBRIDGE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: REHM, HEIDI L — BROAD INSTITUTE, INC.
- Study coordinator: REHM, HEIDI L
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.