Heidi L. Rehm, PhD, FACMG is a board-certified clinical laboratory geneticist and genomic medicine researcher. She is the past Director at the Partners Laboratory for Molecular Medicine, the Medical Director of the Broad Institute Clinical Research Sequencing Platform and Associate Professor of Pathology at Brigham & Women's Hospital, Massachusetts General Hospital and Harvard Medical School. She is a 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 with Daniel MacArthur focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to also aid in rare disease 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 steering committee of the Global Alliance for Genomics and Health. Rehm is also a co-investigator of the BabySeq Project exploring the clinical use of genomic sequencing as an adjunct to newborn screening, principal investigator in the eMERGE consortium supporting genomic discovery and genomic medicine implementation, and a principal investigator on a project to develop i2b2 into a Health Innovation Platform for clinical decision support.

More information about her work can be found at:

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/

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

Massachusetts General Hospital Center for Genomic Medicine http://www.massgeneral.org/chgr/

• 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

Open data sharing

• Global Alliance for Genomics and Health. A federated ecosystem for sharing genomic, clinical data. Science. 2016 Jun 10;352(6291):1278-80.
• 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.
• 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
• Aronson SJ, Rehm HL. Building the foundation for genomics in precision medicine. Nature. 2015 Oct 15;526(7573):336-42.

Interpretation of genomic variants

• Rehm HL. A new era in the interpretation of human genomic variation. Genet Med. 2017 Jul 13. [Epub ahead of print] PMID: 28703787.
• Harrison SM, Dolinsky JS, Knight Johnson AE, Pesaran T, Azzariti DR, Bale S, Chao EC, Das S, Vincent L, Rehm HL. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017 Mar 16. [Epub ahead of print] PMID: 28301460.
• Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 Jul 7;99(1):247.
• 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.
• MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014 Apr 24;508(7497):469-76 NIHMSID #628939.
• Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly M, Pugh T, Funke B, Rehm H, Lebo M. A systematic approach to assessing the clinical significance of genetic variants. Clin Genet. 2013; 84(5):453-63.

Supporting genomics in the practice of medicine

• 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 Jan 12. doi: 10.1038/gim.2016.193.
• 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.
• Aronson SJ, Clark EH, Varugheese M, Baxter S, Babb LJ, Rehm HL. Communicating new knowledge on previously reported genetic variants. Genet Med 2012;14(8):713-719.
• Aronson SJ, Clark EH, Babb LJ, Baxter S, Farwell LM, Funke BH, Hernandez AL, Joshi VA, Lyon E, Parthum AR, Russell FJ, Varugheese M, Venman TC, Rehm HL. The GeneInsight Suite: A platform to support laboratory and provider use of DNA-based genetic testing. Hum Mutat 2011;32(5):532-536.

Translating new technologies into clinical use

• Rehm HL. Evolving health care through personal genomics. Nat Rev Genet. 2017 Apr;18(4):259-267. Review. PMID: 2813814
• Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, Dechene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzy Ski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, Macarthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25;15(3):R53. [Epub ahead of print]
• 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.
• Kothiyal P, Cox SW, Ebert J, Husami A, Kenna MA, Greinwald JH, Aronow B, Rehm HL. High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. BMC Biotechnol 2010; 10(10).

Molecular diagnosis of genetic diseases

• Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL; Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Jan 22.
• Saltzman AJ, Mancini-DiNardo D, Li C, Chung WK, Ho CY, Hurst S , Wynn J, Care M, Hamilton RM, Seidman GW, Gorham J, McDonough B, Sparks E, Seidman JG, Seidman CE, Rehm HL. The cardiac myosin binding protein C Arg502Trp mutation: A common cause of hypertrophic cardiomyopathy. Circ Res 2010; 106(9):1549-1552.
• Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin J, Seidman JG, Seidman CE. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med 2008; 358(18):1899-1908.
• Abou Tayoun AN, Al Turki SH, Oza AM, Bowser MJ, Hernandez AL, Funke BH, Rehm HL, Amr SS. Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation. Genet Med. 2015 Nov 12.

Complete List of Published Work in My Bibliography:

http://www.ncbi.nlm.nih.gov/sites/myncbi/1jKFg7dtkhvk/bibliography/40328432/public/?sort=date&direction=ascending

• 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@bwh.harvard.edu