Creating a framework for reclassifying genetic variants and patient follow-up
Official title: Developing Consensus on a Practical Framework for Variant Reclassification and Recontact
Funded at Ut Southwestern Medical Center · NIH-11039786 · Data updated 2026-11-12
This study is working on a way to help doctors and genetic counselors keep you updated about any new information that comes up about your genetic tests, so you can better understand how changes in your genes might affect your health.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | January 1, 2025 |
| Project end | December 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $541,972 |
| NIH project number | 1R01CA304065-01 |
| Project ID | NIH-11039786 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals who have undergone genetic testing and may need updates on the classification of their genetic variants.
✕Less likely to help
Patients who have not undergone genetic testing or those with stable genetic variants that are unlikely to change classification will not benefit from this research.
What this research studies
This research aims to develop a practical framework for the reclassification of genetic variants, which are changes in genes that can affect health. Over time, the understanding of these variants can change, necessitating updates in their classification. The project will involve gathering insights from various stakeholders, including genetic counselors and healthcare providers, to establish guidelines for when and how patients should be recontacted about new information regarding their genetic tests. By using deliberative research methods, the team will identify shared values and principles among stakeholders to ensure that the framework is comprehensive and applicable in clinical settings.
Why it matters
Potential benefit: If successful, this research could lead to improved patient care by ensuring that individuals receive timely updates about significant changes in the understanding of their genetic variants.
How similar studies have gone: Previous research has shown success in developing frameworks for genetic variant classification, indicating that this approach has a foundation in established practices.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Makhnoon, Sukh — Ut Southwestern Medical Center
- Study coordinator: Makhnoon, Sukh
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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.