Making genetic test results clearer using large-scale lab evidence
Official title: Platform to support clinical variant interpretation through probabilistic assessment of functional evidence
Funded at Constantiam Biosciences INC. · NIH-11101135 · Data updated 2026-11-12
This project builds a tool that helps doctors and labs use high-throughput lab experiments to clarify whether genetic changes are likely harmful for people with inherited disease risks.
Quick facts
| Grant type | Sbir 2 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Constantiam Biosciences INC. NIH-funded |
| Lab location | 1 site (Katy, United States) |
| Project start | January 23, 2023 |
| Project end | May 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $1,030,156 |
| NIH project number | 5R44HG012535-03 |
| Project ID | NIH-11101135 on NIH RePORTER |
Who could benefit from this research
✓Could help
People who received genetic testing that reported a variant of uncertain significance in genes linked to inherited cancers or other genetic conditions (for example BRCA1/2, TP53, BRAF) are the most relevant group.
✕Less likely to help
People without genetic test findings or those whose variants are already clearly classified as benign or pathogenic are unlikely to benefit directly from this platform.
What this research studies
If you or a family member got a genetic test that reported a variant of uncertain significance (VUS), this project aims to speed up and standardize how those unclear results are interpreted. The team curates and combines data from Multiplexed Assays of Variant Effect (MAVEs), which test thousands of genetic changes in a single experiment, and uses probabilistic models to turn complex functional data into clinical evidence. The platform, called Varify, is designed to reduce the manual, error-prone work genetic testing labs now do and to provide clear, reproducible guidance for variant classification. Ultimately it aims to feed more reliable functional evidence into the reports clinicians and patients receive.
Why it matters
Potential benefit: If successful, this could reduce the number of uncertain genetic test results and help people get clearer diagnoses and treatment guidance faster.
How similar studies have gone: Large-scale functional assays (MAVEs) have already helped reclassify many VUSs—studies report reclassification of roughly 44% of VUS within genes that have been assayed—while commercial platforms to integrate these data are still emerging.
Where this research is happening
-
Constantiam Biosciences INC.
Katy, United States Active
Researchers
- Principal investigator: Schafer, Nicholas — Constantiam Biosciences INC.
- Study coordinator: Schafer, Nicholas
Related research
Other NIH-funded projects on the same topics.
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Early genetic risk clues for Alzheimer’s and related dementias
A focused project to help people understand how their genes might signal risk for Alzheimer’s and similar dementias earlier in life.
-
Assessing genetic risk factors for Alzheimer's disease
This study is looking at how our genes might affect the risk of Alzheimer's and similar conditions, and it's creating a new app called MAVEvidence to help identify individual risk levels, so people can get personalized care and support earlier.
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.