Clear rules for updating genetic test results and contacting patients
Developing Consensus on a Practical Framework for Variant Reclassification and Recontact
['FUNDING_R01'] · UT SOUTHWESTERN MEDICAL CENTER · NIH-11251724
This project will create patient-friendly rules about when genetic test results should be updated and when patients should be notified, for people who have had or may get genetic testing.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UT SOUTHWESTERN MEDICAL CENTER (nih funded) |
| Locations | 1 site (DALLAS, UNITED STATES) |
| Trial ID | NIH-11251724 on ClinicalTrials.gov |
What this research studies
You might be invited to join discussions with patients, clinicians, lab staff, and ethicists to talk through realistic cases and values. Participants will share views about when a genetic variant's meaning has changed and who should tell patients, and researchers will identify areas of agreement and disagreement. Experts will use these findings to draft practical guidance and build consensus on steps for reinterpretation and recontact. The goal is a clear framework clinics and labs can follow as genetic knowledge changes.
Who could benefit from this research
Good fit: People who have had genetic testing, received uncertain or changed genetic results, or have a personal/family history of genetic conditions and are willing to share their experiences are ideal candidates.
Not a fit: People without any history of genetic testing or interest in genetic information are unlikely to see direct benefits and individual medical care will not change just by participating.
Why it matters
Potential benefit: If successful, patients could receive more reliable and timely updates when genetic findings change and clearer expectations about being contacted.
How similar studies have performed: There are existing professional guidelines and some local recontact programs, but agreement is limited and using deliberative research to build widely accepted practical rules is relatively new.
Where this research is happening
DALLAS, UNITED STATES
- UT SOUTHWESTERN MEDICAL CENTER — DALLAS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MAKHNOON, SUKH — UT SOUTHWESTERN MEDICAL CENTER
- Study coordinator: MAKHNOON, SUKH
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.