Heidi Rehm, PhD, Associate Professor of Pathology, BWH and Harvard Medical School Director, Partners Laboratory for Molecular Medicine and Medical Director, Broad Institute Clinical Research Sequencing Platform

Welcome to The Short Read, our weekly peek behind the curtain at the people who make this amazing community tick. Make sure to check back every Tuesday for the latest installment. 

We talk a lot about the ‘Genomics Community’ and the need to collaborate, breakthrough silos, and pull together in a common direction. There are very few people who embody that sentiment better than Heidi Rehm. A relentless educator and advocate for data sharing, she is one of the driving forces behind ClinGen (Clinical Genome Resource). When not out there travelling the world spreading the good word, she maintains a hectic schedule at the bench. She is the Director of the Laboratory for Molecular Medicine at Partners Healthcare Personalised Medicine, and Associate Professor of Pathology at Harvard Medical School. Her lab focuses on the translation of new genetic discoveries and technologies into clinical tests that can be used to improve patient outcomes, supporting the model of personalised medicine.

Among Heidi’s honours are the BWH Physician Recognition Award for Clinical Innovation, and the Boston Business Journal’s 40 Under 40 Award for Civic Leadership, given to those who are making a major impact in the community, while improving the civic health of the Boston area through volunteer work and other forms of philanthropy. 

Heidi is 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 and Genomics. She is also a member of the Clinical Work Group and leading flagship projects within the Global Alliance for Genomics and Health, and servers as a council member of several organisations, societies and projects within the genomics community. So here it is, the Short Read with one of the busiest people out there! 


What are you working on right now? 

Right now I am in the midst of renewing my ClinGen grant to continue the development of open resources to support the accurate understanding of genes and variants, supporting the return of genomic results to newborns through the BabySeq project, and to BioBank participants through the eMERGE consortium, the discovery of novel genes for rare disease through our Broad Center for Mendelian Genomics and continuing to support diagnostic services for patients with suspected genetic disorders.

What’s the biggest challenge you face in your work at the moment?

The biggest challenge I face is scaling support for the rapid and accurate interpretation of human genomic variation. Currently, only a fraction of laboratories share their interpretations in ClinVar. Furthermore, the evidence to support interpretations, such as individual-level data, is rarely accessible and even when shared, it is not often structured for machine learning.

Name one big development that you would like to see in your field the next 18 months.

I would like to see researchers be required to deposit their variant interpretations and supporting evidence in ClinVar as a condition for publication and clinical laboratories also be required to do this as a quality assurance regulation.

What are you most proud of in your career?

I am most proud of my efforts to convince laboratories to engage in free and open data sharing for advancement of science and the care of patients.

Which scientists, living, dead, or fictional, would you invite to dinner, and why?

I would invite Eric Lander, who has taught me to always make sure I know the ‘why’ of what I do and ensure I design the best method for doing it. He is a role model for community science.

What advice do you wish someone had given you at the start of your career?

I wish I had been encouraged to dual train in computational biology. It is a critical skill set for science in this century.

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Opinions and views expressed in The Short Read are the interviewee’s and not those of the home institution