Clinical molecular geneticist and genomic medicine researcher
Laboratory for Molecular Medicine/ Harvard Medical School Massachusetts, USA
Heidi L. Rehm, PhD, FACMG is a board-certified clinical molecular geneticist and genomic medicine researcher. She is the Chief Laboratory Director at the Partners Laboratory for Molecular Medicine (LMM), the Medical Director of the Broad Institute Clinical Research Sequencing Platform and Associate Professor of Pathology at Brigham & Women's Hospital and Harvard Medical School. Both clinical labs focus on the rapid translation of new genetic discoveries into clinical tests and bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical and translational use. The LMM has been a leader in translational medicine, launching the first clinical tests for cardiomyopathy and lung cancer treatment. The LMM and the Broad CRSP lab offer genomic sequencing services for both clinical diagnostics and to support several genomic medicine research projects including the MedSeq and BabySeq projects and the eMERGE program. Dr. Rehm is also involved in defining standards for the use of next generation sequencing in clinical diagnostics and the interpretation of sequence variants through her committee roles at the American College of Medical Genetics and Genomics. She is also one of several principal investigators of a major NIH-funded effort called ClinGen (Clinical Genome Resource) to support broad sharing of genotype and phenotype data and expert interpretation of genes and variants. Working closely with the Global Alliance for Genomics and Health she is co-leading the Matchmaker Exchange project to aid in solving rare diseases and co-chairs a subcommittee of the BRCA Challenge to support the international sharing of knowledge on BRCA variation. Dr. Rehm also co-leads a Center for Mendelian Genomics and is helping launch new initiatives in healthcare IT.