Heidi Rehm

Dr. Heidi L. Rehm, PhD, FACMG is the Director of the Partners Healthcare Laboratory for Molecular Medicine (LMM), the Medical Director of the Broad Institute's 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 genomics into clinical use. Rehm has also been a leader in genomic medicine research, supporting several programs from discovery (Center for Mendelian Genomics), to translation (MedSeq, BabySeq, eMERGE) to building standards to support genomics (ClinGen, GA4GH, ACMG).

Dr. Rehm began building the Laboratory for Molecular Medicine at Partners Personalized Medicine in 2001 after completing her graduate degree in Genetics from Harvard University and her postdoctoral and fellowship training at Harvard Medical School. The lab focuses 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 use. The laboratory has been a leader in translational medicine, launching the first clinical tests for cardiomyopathy and lung cancer treatment. The lab offers whole genome sequencing services for both clinical diagnostics and to support several genomic medicine research projects including the MedSeq and BabySeq projects. She 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. She is also one of several principal investigators of a major NIH-funded effort called ClinGen (Clinical Genome Resource Program) to support broad sharing of genotype and phenotype data and clinical annotations of genetic variants. She also directs the Clinical Molecular Genetics training program at Harvard Medical School and conducts research in hearing loss, Usher syndrome, cardiomyopathy, healthcare IT and genomic medicine.