Uploaded March 2024 | Updated September 2026, 1 hour ago
Seminar Title: Clinical and Research Strategies to Support Genomic Medicine
March 28, 2024 - Heidi Rehm, Ph.D., a human geneticist and genomic medicine researcher, is co-director of the Program in Medical and Population Genetics and an institute member at the Broad Institute. She is the chief genomics officer in the Department of Medicine at Massachusetts General Hospital (MGH), working to integrate genomics into medical practice with standardized approaches. She is also a professor of pathology at Harvard Medical School and faculty member of the Center for Genomic Medicine at MGH.
As a board-certified laboratory geneticist and medical director of the Clinical Research Sequencing Platform, she is guiding genomic testing for clinical and clinical research use. She is a leader in defining standards for the interpretation of sequence variants and a principal investigator of a major NIH-funded effort called ClinGen (Clinical Genome Resource), 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 Anne O’Donnell-Luria 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 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. and co-leading gnomAD, the Genome Aggregation Database.
Rehm is a board member of the American College of Medical Genetics and Genomics and the National Library of Medicine. She serves as an editor of the Cold Spring Harbor Molecular Case Studies journal and as an associate editor of the American Journal of Human Genetics.
The NHGRI Center for Precision Health Research (CPHR) sponsors a monthly series of talks by intramural and special guest speakers on research relevant to the use of genomic data and large-scale electronic health record information to improve health. Speakers are selected by CPHR faculty and cover research topics of interest to a wide audience.
Relevant Links:
CPHR Seminar Series: genome.gov/cphr/seminars
Heidi Rehm: broadinstitute.org/bios/heidi-rehm
Seminar Title: Clinical and Research Strategies to Support Genomic Medicine
March 28, 2024 - Heidi Rehm, Ph.D., a human geneticist and genomic medicine researcher, is co-director of the Program in Medical and Population Genetics and an institute member at the Broad Institute. She is the chief genomics officer in the Department of Medicine at Massachusetts General Hospital (MGH), working to integrate genomics into medical practice with standardized approaches. She is also a professor of pathology at Harvard Medical School and faculty member of the Center for Genomic Medicine at MGH.
As a board-certified laboratory geneticist and medical director of the Clinical Research Sequencing Platform, she is guiding genomic testing for clinical and clinical research use. She is a leader in defining standards for the interpretation of sequence variants and a principal investigator of a major NIH-funded effort called ClinGen (Clinical Genome Resource), 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 Anne O’Donnell-Luria 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 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. and co-leading gnomAD, the Genome Aggregation Database.
Rehm is a board member of the American College of Medical Genetics and Genomics and the National Library of Medicine. She serves as an editor of the Cold Spring Harbor Molecular Case Studies journal and as an associate editor of the American Journal of Human Genetics.
The NHGRI Center for Precision Health Research (CPHR) sponsors a monthly series of talks by intramural and special guest speakers on research relevant to the use of genomic data and large-scale electronic health record information to improve health. Speakers are selected by CPHR faculty and cover research topics of interest to a wide audience.
Relevant Links:
CPHR Seminar Series: genome.gov/cphr/seminars
Heidi Rehm: broadinstitute.org/bios/heidi-rehm
![NHGRIs Oral History Collection: Interview with Sarah Tishkoff
Sarah Tishkoff, Ph.D., is the David and Lyn Silfen Professor in the Department of Biology and Genetics at the University of Pennsylvania. Dr. Tishkoff is a recipient of the National Institutes of Health Director’s Pioneer Award, and she was elected to the National Academy of Sciences in 2017. She is a leading expert in researching human genetic diversity in African populations. In this oral history interview, recorded in 2016, Dr. Tishkoff recounts her early work in anthropology with Allan Wilson at the University of California, Berkeley. She also discusses in depth her groundbreaking work in studying human genetic variation across Africa.
The National Human Genome Research Institute’s (NHGRI) Oral History Collection features discussions with influential figures in the field of genomics and the history of institute. Intended for researchers and scholars, each oral history contains extensive conversation about science and medicine, biographical details and insights into the inner workings of institutions and initiatives. For more information, visit NHGRI’s History of Genomics Program at: https://www.genome.gov/leadership-initiatives/History-of-Genomics-Program
Credits:
Executive Producer/Historian: Christopher Donohue, Ph.D.
Interviewer: Christopher Donohue, Ph.D.
Assistant Producers: Kris Wetterstrand, M.S., Britny Kish, Mukul Nerurkar
Producer/Videographer/Editor: Alvaro Encinas
Voiceover (Interview Questions): Zachary Utz, M.A.
Chapters:
00:00 - Intro Music
00:21 - How did you first become interested in science?
09:06 - How did the Human Genome Diversity Project and the International Haplotype Map Project influence your work?
22:17 - Can you talk a bit more about the planning and logistics that went into the study you did with the Marshfield Institute?
31:10 - How has the H3Africa Initiative changed how this kind of field work is being done?
34:25 - If you could design a project that addressed the issues that you mentioned, what would it look like?
36:20 - How have improvements in sequencing technologies affected this kind of work?
39:22 - How do we talk about [natural] selection in African populations in a way that is responsible and scientifically correct?
41:27 - How do you separate the genomic component of complex disease from the environmental component? NHGRIs Oral History Collection: Interview with Sarah Tishkoff](https://i.ytimg.com/vi/5fLcsl3360Y/mqdefault.jpg)









