Investigator, Full Prof (M) CGM Faculty, Mass General Research Institute

Chief Genomics Officer Department of Medicine, Massachusetts General Hospital

Institute Member Broad Institute

Co-Director Medical and Population Genetics, Broad Institute

Chief Medical Officer and Clinical Laboratory Director Broad Clinical Laboratories, Broad Institute

Professor of Pathology Harvard Medical School

Associate Laboratory Scientist Pathology, Massachusetts General Hospital

PhD Harvard University Graduate School of Education 2000

PhD 2000

data sharing; dna variation; gene discovery; genetic testing; genomic medicine; high-throughput nucleotide sequencing; molecular diagnostic techniques; rare disease; variant reclassification

Heidi Rehm is a board-certified laboratory geneticist working to guide genomic testing for clinical and clinical research use. She is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. Rehm also co-leads the Broad Center for Mendelian Genomics focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to also 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 Chair of the Global Alliance for Genomics and Health. Rehm is also a principal investigator of the Broad All of Us Genome Center supporting the sequencing of a cohort of one million individuals in the US and co-leading gnomAD, the Genome Aggregation Database. She serves as an advisor to the Clinical Pharmacogenetics Implementation Consortium, Danish National Genome Center, Monarch Initiative, Ensembl and CIViC database. She serves journal editor or advisor roles with Genetics in Medicine, Cell Genomics, and Genome Medicine. She received the Scientific Achievement Award from the American Society of Human Genetics in 2022 and the Coulter Award from the Association for Diagnostics and Laboratory Medicine in 2025 and has published over 300 peer-reviewed papers.

More information about her work can be found at:
Laboratory Website: the-tgg.org
ClinGen https://www.clinicalgenome.org
Broad Center for Mendelian Genomics https://cmg.broadinstitute.org
Rare Genomes Project https://raregenomes.org
Matchmaker Exchange http://www.matchmakerexchange.org
gnomAD http://gnomad.broadinstitute.org/
Gene Curation Coalition https://thegencc.org/
GA4GH https://www.ga4gh.org/
All of Us Research Program https://www.joinallofus.org
Broad Clinical Laboratories https://broadclinicallabs.org

Rehm received her bachelor's degree from Middlebury College in Molecular Biology and Biochemistry. She completed her PhD in Genetics at Harvard University studying the genetic and pathological basis of Norrie Disease, a deaf-blindness syndrome, and served as a postdoctoral fellow at Massachusetts General Hospital and Howard Hughes Medical Institute, expanding her studies into the genetic basis of hearing loss.