Heidi Rehm, PhD, FACMG, a human geneticist and genomic medicine researcher, is co-director of the Program in Medical and Population GeneticsĀ and an institute member at the Broad Institute. She is the chief genomics officer in the Department of Medicine at Massachusetts General Hospital (MGH), working to integrate genomics into medical practice with standardized approaches. She is also a professor of pathology at Harvard Medical School and faculty member of theĀ Center for Genomic MedicineĀ at MGH.
As a board-certified laboratoryĀ geneticist and medical director of theĀ Clinical Research Sequencing Platform, she is guiding genomic testing for clinical and clinical research use. She is a 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 theĀ Broad Center for Mendelian GenomicsĀ with Anne OāDonnell-Luria focused on discovering novel rare disease genes and co-leads theĀ Matchmaker ExchangeĀ to aid in gene discovery. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role as a vice chair of theĀ Global Alliance for Genomics and Health. Rehm is also a principal investigator of the Broad-LMM-Color All of Us Genome Center, supporting the sequencing and return of results to a cohort of one million individuals in the U.S. and co-leading gnomAD, theĀ Genome Aggregation Database.
Rehm is a board member of theĀ American College of Medical Genetics and GenomicsĀ and theĀ National Library of Medicine. She serves as an editor of theĀ Cold Spring Harbor Molecular Case StudiesĀ journal and as an associate editor of theĀ American Journal of Human Genetics. Among Rehm’s honors are the BWH Physician Recognition Award for Clinical Innovation and theĀ Boston Business Journal’sĀ 40 Under 40 Award for Civic Leadership. She was also a member of the team that won the 2012 CLARITY Challenge run by Boston Childrenās Hospital and the 2013Ā Bio-IT WorldĀ Editorsā Prize for the GeneInsight software system.
Rehm received her B.A. degree in molecular biology and biochemistry from Middlebury College before earning her M.S. in biomedical science from Harvard Medical School and Ph.D. in genetics from Harvard University. She completed her post-doctoral training with David Corey in neurobiology and a fellowship in clinical molecular genetics at Harvard Medical School.
