Explore This Lab


The Rehm Laboratory, located at Massachusetts General Hospital and the Broad Institute, has a mission to support the use of genomics in the practice of medicine. The lab is focused on community-centered projects that promote collaboration, data sharing and open science. At Mass General, Rehm is helping roll out genomics across the healthcare system through system-wide efforts to standardize genetic and genomic practices across providers and support their appropriate use in caring for patients. At the Broad Institute, Rehm oversees efforts in rare disease gene discovery and building clinical genomic knowledge resources to support the use of genetics and genomics in research and medicine.

Biography of Heidi Rehm

Rehm is a board-certified laboratory geneticist and previously built and led the Partners Laboratory for Molecular Medicine for 15 years. She is a leader in defining standards for the interpretation of sequence variants and a principal investigator of ClinGen, providing 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 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 a Vice Chair of the Global Alliance for Genomics and Health. Rehm is also a principal investigator in the eMERGE consortium supporting genomic discovery and genomic medicine implementation, a principal investigator on a project to develop i2b2 into a Health Innovation Platform for clinical decision support and 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 U.S.

More information about her work can be found at:

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 the Howard Hughes Medical Institute, expanding her studies into the genetic basis of hearing loss.

Lab Members

ClinGen Team

The Brain

Danielle Azzariti, MS, CGC

Genetic Counselor
Senior Project Manager

Marina DiStefano

Marina DiStefano

Genetic Fellow
Senior Biocurator

Lary Babb

Larry Babb

ClinGen Data Platform WG Chair
Senior Principal Software Engineer

Steven Harrison

Steven Harrison, PhD

Associate Director, Broad CRSP
ClinGen Sequence Variant Interpretation WG Co-Chair
ClinGen Interlab Discrepancy Resolution WG Co-Chair

Rebecca Siegert

Rebecca Siegert


Andy Grant

Andy Grant


Madeline Hughes

Madeline Hughes

Biocurator and Administrative Support

Tam Sneddon

Tam Sneddon

Biocurator, Computational Biologist

Terry O’Neill

Terry O’Neill

Principal Software Engineer

Center for Genomic Medicine Team

Christina Austin-Tse

Christina Austin-Tse, PhD

Clinical Molecular Geneticist

Holly Head

Holly Head

Genetic Counselor

Courtney E. Leonard

Courtney E. Leonard

Genetic Counselor Assistant

Rare Disease Group


Lauren Scott

Lauren Scott

Operations Specialist, Grants and Finance

Research Projects


ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

Learn more

Center for Genomic Medicine Whole Genome Sequencing Demonstration Project

The Center for Genomic Medicine at Massachusetts General Hospital is conducting demonstration project to assess the feasibility of implementing Whole Genome Sequencing (WGS) as a diagnostic tool within an academic medical center. Through collaboration with the Broad Institute of MIT and Harvard and the Partners Laboratory for Molecular Medicine, the primary aims of this randomized control trial are to develop a process for ordering and returning WGS results to patients in various genetics clinics and to compare diagnostic yield of WGS to that of standard-of-care testing. Over time, the study team intends to assess downstream impacts of WGS information on health care utilization within a hospital system such as Mass General.

Learn more

Rare Disease Program

The Rare Disease Group is co-directed by Daniel Macarthur and Heidi Rehm and spans both the Broad Center for Mendelian Genomics (CMG) and the Rare Genomes Project (RGP). The Broad CMG is an NIH-funded program which uses genomic methods to hunt for new disease genes from thousands of rare disease families. The RGP directly enrolls families living in the U.S. who have not been able to obtain a diagnosis for their rare disease.

Learn more about the Center for Mendelian Genomics

Learn more about the Rare Genomes Project

Matchmaker Exchange

The 'Matchmaker Exchange' project was launched in October 2013 to address this challenge and find genetic causes for patients with rare disease. This involves a large and growing number of teams and projects working towards a federated platform (Exchange) to facilitate the matching of cases with similar phenotypic and genotypic profiles (matchmaking) through standardized application programming interfaces (APIs) and procedural conventions.

Learn more


GA4GH Work Streams develop standards and tools that are founded on the for Responsible Sharing of Genomic and Health-Related Data. Their work is designed to enable international genomic data sharing based on the specific needs of clinical and research Driver Projects — real-world genomic data initiatives sourced from around the globe.

Learn more

All of Us

The All of Us Research Program is a historic effort to gather data over many years from one million or more people living in the United States, with the ultimate goal of accelerating research and improving health.

Learn more


The MedSeq Project, funded by the NIH, was the very first study exploring the use of whole genome sequencing (GS) in both a healthy population and a population with suspected genetic cardiac disease. The MedSeq Project was designed to explore the medical, behavioral and economics impacts of incorporating GS into everyday medicine. We examined how providers with and without genetics training communicated genetic information to their patients and how patients and providers responded to this genetic information. We also explored the downstream
impact this testing had on the health system at large.

Learn more

BabySeq logo


The BabySeq Project, funded by the NIH, is examining the use of whole exome sequencing to screen newborns for genetic childhood disease risk. BabySeq follows the pediatricians’ incorporation of genetic information into the baby’s medical care. BabySeq aims to collect the data needed to examine what the risks and benefits of newborn genome sequencing might be as we imagine implementing into everyday care.

Learn more


The Electronic Medical Records and Genomics (eMERGE) Network is a National Institutes of Health (NIH)-organized and funded consortium of U.S. medical research institutions. The Network brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading medical research institutions across the country to conduct research in genomics, including discovery, clinical implementation and public resources.

Learn more

Broad CRSP

The Broad Institute’s CLIA licensed, CAP accredited Clinical Research Sequencing laboratory provides physicians and physician-researchers with high quality molecular tests such as Whole Exome and Genome Sequencing with rapid turnaround times for use in a clinical setting. In addition, our certified lab provides clinical researchers with high quality sequencing services under a quality system for use in clinical trials.

Learn more


Selected Publications


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

See Heidi Rehm's NCBI bibliography