Oral History Collection
Heidi L. Rehm, Ph.D., is a human geneticist and genomic medicine researcher. She is the medical director of the Clinical Research Sequencing Platform and an institute member at the Broad Institute and the chief genomics officer in the Department of Medicine at Massachusetts General Hospital (MGH). She is also a professor of pathology at MGH, Brigham and Women's Hospital (BWH) and Harvard Medical School. She is a board-certified geneticist and leader in defining standards for the interpretation of sequence variants and a principal investigator of a major NIH-funded effort called ClinGen (Clinical Genome Resource), providing free and publicly accessible resources to support the interpretation of genes and variants. Rehm also co-leads the Broad Center for Mendelian Genomics with Daniel MacArthur focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to aid in gene discovery. In her interview, she discusses various aspects of genomic medicine and some of the challenges associated with the clinical implementation of genomics. She also discusses her involvement in the ClinGen and All of Us programs.