Tackling the VUS Problem with guest speaker Prof. Heidi Rehm (April 9 2024)

Heidi Rehm is an investigator in the Centre for Genomic Medicine at MGH, Co-Director of the Program in Medical and Population Genetics at the Broad Institute as well as the Medical Director at Broad Clinical Laboratories. She is a principal investigator of ClinGen and gnomAD, providing resources to support the interpretation of genes and variants. Rehm co-leads the Broad Centre for Mendelian Genomics and the Matchmaker Exchange focused on discovering causes of rare disease. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches as vice chair of the Global Alliance for Genomics and Health.
During this webinar, Heidi will discuss the growing detection rate of variants if uncertain significance (VUS), associated with increased access and broadening approaches to genetic testing. She will explain how tackling this issue will require innovative efforts in building and aggregating evidence for classifying variants, improving knowledgebases, evolving standards for variant classification, and reconsidering when and how we report VUSs. This talk will touch on various aspects of this bold challenge and how we, as a community, will tackle these challenges collaboratively.