Building a standardized system to improve interpretation of genetic test results
Development and validation of a computable knowledge framework for genomic medicine
['FUNDING_OTHER'] · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · NIH-11145058
This project builds a computer framework to combine genetic knowledge so doctors can more quickly and accurately interpret cancer-related genomic tests for patients.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | RESEARCH INST NATIONWIDE CHILDREN'S HOSP (nih funded) |
| Locations | 1 site (COLUMBUS, UNITED STATES) |
| Trial ID | NIH-11145058 on ClinicalTrials.gov |
What this research studies
From a patient perspective, the team is creating a standardized, computable way to bring together information from many different genetic knowledgebases so clinical analysts don't have to search each one separately. They will map and harmonize differing formats and evidence statements, create software representations of variant evidence and reasoning, and validate the framework by comparing its outputs to real clinical variant lists. The work uses public and private data sources and runs head-to-head checks against current clinical interpretation workflows. The aim is to reduce time spent on manual searches and lower the chance of missing important variant information in cancer genomic reports.
Who could benefit from this research
Good fit: Ideal candidates are people with cancer whose care involves genomic sequencing or who can provide genomic data for validation of interpretation tools.
Not a fit: Patients who are not undergoing genomic testing or whose care does not rely on sequencing are unlikely to see direct benefits from this work.
Why it matters
Potential benefit: If successful, patients could receive faster, more consistent, and more reliable genetic test reports that better inform cancer diagnosis and treatment.
How similar studies have performed: Related efforts to harmonize genomic knowledgebases have shown promise but remain inconsistent, so this project builds on prior work to create a more formal, scalable solution.
Where this research is happening
COLUMBUS, UNITED STATES
- RESEARCH INST NATIONWIDE CHILDREN'S HOSP — COLUMBUS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WAGNER, ALEX HANDLER — RESEARCH INST NATIONWIDE CHILDREN'S HOSP
- Study coordinator: WAGNER, ALEX HANDLER
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.
Conditions: Cancers