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Rehm HL. A new era in the interpretation of human genomic variation. Genet Med. 2017; 19(10):1092-95.
Aronson SJ, Rehm HL. Building the foundation for genomics in precision medicine. Nature. 2015;526 (7573):336-42.
Heidi Rehm, Ph.D.
Heidi Rehm, a human geneticist and genomic medicine researcher, is medical director of the Clinical Research Sequencing Platform 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 the Center for Genomic Medicine at MGH.
As a board-certified geneticist, 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 the Broad Center for Mendelian Genomics with Anne O’Donnell-Luria focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange 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 the 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, the Genome Aggregation Database.
Rehm is a board member of the American College of Medical Genetics and Genomics and the National Library of Medicine. She serves as an editor of the Cold Spring Harbor Molecular Case Studies journal and as an associate editor of the American Journal of Human Genetics. Among Rehm's honors are the BWH Physician Recognition Award for Clinical Innovation and the Boston Business Journal's 40 Under 40 Award for Civic Leadership. She was also a member of the team that won the 2012 CLARITY Challenge run by Boston Children’s Hospital and the 2013 Bio-IT World Editors’ 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.