The System is Working. We Need More Engagement, Says ClinVar Champion Heidi Rehm of Mass General in Her Update on the State of Genomic Medicine in 2022


Heidi Rehm, Chief Genomics Officer at MGH, Clinical Lab Medical Director at Broad Institute

Bio and Contact Info

Chapters:

0:00 What is the difference between genetics and genomics?

5:03 We’re not yet understanding a significant fraction of our genome and its role in disease.

10:33 Green’s bold predictions for genomics by 2030

16:27 Over 1,700 disease-related genes curated in ClinGen

20:28 ClinVar crowdsourced - what is the quality control?

34:02 Does genomics lend itself to standardization?

39:18 Government funded but self-regulated

44:33 What big genomics projects would you like to see in the future?

Heidi Rehm’s talents for genomics are legendary. Our field has devoured them like a hungry beast.

Discovering an appreciation for the natural logic of genetics in her early school years, Heidi would later learn she was good at the standardization of genomic databases for clinical use. This would make her a pioneering superstar of genomic medicine.

“I didn’t anticipate the huge role I'd play would be to operationalize the field. That’s a character trait of mine. I like to improve the efficiency and scalability and operational side of things. Even though I’m driven by the biology and the genetic basis of disease, a lot of my day to day work in the end is in developing standards to scale it. The only way that we will be able to understand all of the genetic causes of disease is if we share all of the genetic data all around the globe. But in order to share that data, it has to be structured and formatted in consistent ways," she says in today's show.

Heidi is the Chief Genomics Officer at the Center for Genomic Medicine and the Medical Director of the Broad Institute Clinical Research Sequencing Platform. She is also Professor of Pathology at Harvard Medical School. She is perhaps best known for her leading roles in her work with the ClinGen, ClinVar and MatchMaker databases.



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