Professor of Pathology Massachusetts General Hospital and Broad Institute of MIT and Harvard Boston, Massachusetts, United States
Description: This plenary session will provide a contemporary overview of the ongoing efforts addressing the challenges with identifying and reporting variants of uncertain significance (VUS) during germline genetic testing. Specific highlights will include current best practices from professional societies, the forthcoming updated ACMG/AMP/CAP/ClinGen variant classification guidelines, experimental strategies to reclassify VUS, and the ongoing international data sharing programs dedicated to resolving VUS. As such, the overarching thesis of this session is ultimately centered on improving diagnostic testing practice and medical genetics patient care.
