Heidi L. Rehm, PhD, FACMG is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at Massachusetts General Hospital (MGH). She is also Medical Director of the Broad Institute Clinical Research Sequencing Platform and Professor of Pathology at Harvard Medical School. She is a board-certified laboratory geneticist and leader in defining standards for the interpretation of sequence variants and 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 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 on the executive committee 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 US.

More information about her work can be found at:

Laboratory Website: RehmLab.org

ClinGen https://www.clinicalgenome.org/

ClinVar https://www.ncbi.nlm.nih.gov/clinvar/

Broad Center for Mendelian Genomics https://cmg.broadinstitute.org/

Matchmaker Exchange http://www.matchmakerexchange.org/

GA4GH https://www.ga4gh.org/

All of Us Research Program https://www.joinallofus.org/en

MedSeq and BabySeq http://www.genomes2people.org/

eMERGE https://emerge.mc.vanderbilt.edu/

Broad CRSP http://genomics.broadinstitute.org/products/clinical-research-sequencing-platform-crsp

Partners Laboratory for Molecular Medicine http://personalizedmedicine.partners.org

• 1993, BA (summa cum laude),  Molecular Biology and Biochemistry, Middlebury College
• 2000, PhD,  Genetics (Cynthia Morton, PhD), Harvard University
• 1995, MMSc  Medical Science, Harvard Medical School
• 2005, FACMG, Molecular Genetics, Harvard Medical School Genetics Training Program / American Board of Medical Genetics

For a full list of publications, click here: https://www.ncbi.nlm.nih.gov/myncbi/1jKFg7dtkhvk-/bibliography/public/

Reviews

Rehm HL. A new era in the interpretation of human genomic variation. Genet Med. 2017 Jul 13. PMID: 28703787

Rehm HL. Evolving health care through personal genomics. Nat Rev Genet. 2017 Apr;18(4):259-267. Review. PMID: 28138143

Aronson SJ, Rehm HL. Building the foundation for genomics in precision medicine. Nature. 2015 Oct 15;526(7573):336-42. PMID: 26469044

Highlighted Publications

DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 Mar 21. doi: 10.1038/s41436-019-0487-0. PMID: 30894701

Harrison SM, Dolinksy JS, Chen W, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Mar-Heyming R, McFaddin AS, Moyer K, Nagan N, rentas S, Santani AB, Seppälä EH, Shirts BH, Tidwell T, Topper S, Vincent LM, Vinette K, Rehm HL; ClinGen Sequence Variant Inter-Laboratory Discrepancy Resolution Working Group. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Hum Mutat. 2018 Nov;39(11): 1641-1649. doi: 10.1002/humu.23643. PMID: 30311378

Azzariti DR, Riggs ER, Niehaus A, Rodriguez LL, Ramos EM, Kattman B, Landrum MJ, Martin CL, Rehm HL. Points to consider for sharing variant-level information from clinical genetic testing with ClinVar. Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1).  PMID: 29437798

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. PMID: 30311386

Biesecker LG, Nussbaum RL, Rehm HL. Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition. JAMA. 2018 Nov 13;320(18):1929-1930. doi: 10.1001/jama.2018.14900. PMID: 30326012

Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 Jul;19(7):809-81. PMID: 28079900

Global Alliance for Genomics and Health. A federated ecosystem for sharing genomic, clinical data. Science. 2016 Jun 10;352(6291):1278-80. PMID: 27284183

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-23. PMID: 25741868

Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. ClinGen - The Clinical Genome Resource. N Engl J Med. 2015 May 27. PMID: 26014595

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Hum Mutat. 2015;36(10):915-21. PMID: 26295439

McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier J, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae CA, Azzariti DR, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL; MedSeq Project. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med Genet. 2014 Dec 14;15:134. PMID: 25714468

Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E. ACMG Clinical Laboratory Standards for Next Generation Sequencing. Genet Med. 2013; 15(9):733-47. PMID: 23887774

• 2006: Tomorrow’s PIs (recognition for most promising  Genome Technology young scientists) 
•  2006: Partners in Excellence Award (for rapid launch of  Partners Healthcare System the EGFR tumor test for lung cancer therapeutics)
• 2006: Partners in Excellence Award (for work integrating  Partners Healthcare System genetic data into the Electronic Medical Record)
• 2009: Partners in Excellence Award, (for achievements by  Partners Healthcare System the Laboratory for Molecular Medicine)
• 2010: 40 Under 40 Award (business and civic leadership) Boston Business Journal
• 2012: Partners in Excellence Award (for achievements by  Partners Healthcare System the Laboratory for Molecular Medicine)
• 2012: The CLARITY Challenge (genome interpretation) Boston Children’s Hospital
• 2013: Editor’s Choice Award for GeneInsight  BioIT World
• 2014: BWPO Physician Recognition Award for Clinical Innovation, Brigham and Women's Hospital

Email: hrehm@mgh.harvard.edu