Making genetic test results clearer and up-to-date in your medical record
Integrated Knowledge Management Framework for Clinical Genomics
This project builds a system to keep genetic test results clear, linked, and current in medical records for patients who have or will have clinical genomic testing and their doctors.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Mayo Clinic Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project ID | NIH-11164524 on NIH RePORTER |
What this research studies
The team is building the GenIK framework to turn genetic test interpretations into standardized, structured information that can live in electronic health records. They plan to track how genetic findings and their meanings change over time and link related interpretations so updates propagate correctly. The work includes connecting the framework to clinical systems and testing it in real-world clinical workflows at Mayo Clinic. The goal is to make genomic information easier for clinicians to use in diagnosis and treatment decisions.
Who could benefit from this research
Good fit: Ideal candidates are people who have had—or will have—clinical genetic testing and whose results are or will be stored in electronic health records, especially patients treated at or whose records are accessible to the participating center.
Not a fit: People without any clinical genetic testing or whose care and records are not connected to participating health systems are unlikely to see direct benefit.
Why it matters
Potential benefit: If successful, this could help your doctors get clearer, updated genetic information in your medical record to guide diagnosis and treatment.
How similar studies have performed: Prior efforts have integrated some genetic results into EHRs with promising local success, but this project is novel in formally modeling evolving interpretations and scaling knowledge management across systems.
Where this research is happening
Rochester, United States
- Mayo Clinic Rochester — Rochester, United States (Active)
Researchers
- Principal investigator: Freimuth, Robert Richard — Mayo Clinic Rochester
- Study coordinator: Freimuth, Robert Richard
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.