Makhnoon Lab
Principal Investigator: Sukh Makhnoon
Institution: The University of Texas Southwestern Medical Center (Dallas, TX)
Primary Subfield: Molecular & Cell Bio
Recruitment Status: ✅ Hiring Postdocs
Research Focus
Over a 5–10-year period, between 6% and 15% of germline variants undergo reclassification, a process by which the clinical meaning of a given variant is recategorized based on updated evidence. Accurate and definitive variant classification is a critical component of clinical genetic testing, especially as test indications have broadened over time and more genes are being interrogated per test. Reclassification occurs frequently in clinical practice today and has well-demonstrated clinical utility. While consensus exists about the importance of and need for guidance regarding variant reinterpretation, reclassification, and patient recontact, the field of medical genetics is ablaze with debates over the nature and extent of stakeholder responsibilities on these issues. We propose to use deliberative research to construct a framework of principles that can provide practical guidance for ongoing guideline development as genomic science evolves. Our research is directly responsive to numerous calls to action to develop standardized processes and guidelines in reinterpretation, reclassification, and recontact. We will achieve our goals through the following aims: Aim 1: Explore stakehol…
Active NIH Awards
- 5R01CA304065-02: Developing Consensus on a Practical Framework for Variant Reclassification and Recontact (2026)
- 1R01CA304065-01: Developing Consensus on a Practical Framework for Variant Reclassification and Recontact (2025)
- 5R00CA256216-05: Multilevel investigation of uncertain and reclassified genomic variants in clinical oncology (2024)
Explore 700+ US Biology Labs on FindBioLabs.com