Skip to main content

Mount Sinai Launches Human Genome Sequencing Project

Analysis  |  By Eric Wicklund  
   August 15, 2022

The New York health system is looking for 1 million patients to participate in a program aimed at developing genetics-based precision medicine treatments and new therapies.

The Mount Sinai Health System and the Icahn School of Medicine at Mount Sinai are looking for 1 million patients to participate in a large-scale human genome sequencing project.

The five-year project, launched in a partnership with Regeneron, aims to provide researchers with data that will help in the development of genetics-based precision medicine treatments and new therapies.

“For decades, we have hoped that genetics would offer doctors the blueprints to each patient’s unique health care needs," Alexander W. Charney, MD, PhD, an associate professor of psychiatry, genetics, and genomic sciences at the Icahn School and project leader, said in a press release. "While genetics has proved to be a powerful tool for understanding rare disorders, we still do not have enough data to know how effective it may be in helping to treat and diagnose most patients. A big reason for this is that most gene sequencing studies are not designed for this.”

[See also: Marrying Precision Medicine to EHRs is a Priority at UH Cleveland].

“For this project, we found several key ways to provide researchers with the massive, clinically focused, real-world data that are needed to truly determine the effectiveness of precision medicine and hopefully improve patient care,” he added.

The Mount Sinai Million Health Discoveries Program, developed on a digital health platform created by Vibrent Health, will be led by Charney; Girish N. Nadkarni, MD, MPH, the Irene and Dr. Arthur M. Fishberg Professor of Medicine; Dara Meyer, MS, PMP, director of operations and project management; and Rachelle Weisman, MPH, associate director of clinical operations, all of whom are based at the Icahn School. Charney and Nadkarni are co-directors of The Charles Bronfman Institute for Personalized Medicine at Icahn Mount Sinai, which will over see the program.

Patient recruited by the health system who give their consent will have their DNA sequenced and analyzed, after which a de-identified version of the electronic medical record profile will be sent to researchers. At the Regeneron Genetics Center, researchers will perform exome screening and whole-genome genotyping.

“At Mount Sinai, precision medicine rests on a three-legged stool of gene sequencing, advanced electronic medical records, and cutting-edge algorithmic data analysis techniques," Eric J. Nestler, MD, PhD, the Nash Family Professor of Neuroscience, director of The Friedman Brain Institute, Dean for Academic Affairs at Icahn Mount Sinai, and chief scientific officer of the Mount Sinai Health System, said in the press release.  "This project exemplifies that highly promising approach. We expect that the unprecedented size and diversity of this study will provide researchers with clinically actionable information to deliver better care for patients.”

"Almost all the information we need for this study is already embedded in the electronic medical records," added Nadkarni. "This means that we can greatly shorten the interview process, which in the past has reduced the chances a patient would consent to being enrolled in a study. In general, we believe that by re-evaluating each detailed step of the enrollment process, we can raise the participant levels we need to produce meaningful data that will one day help patients’ lives.”

Eric Wicklund is the associate content manager and senior editor for Innovation, Technology, and Pharma for HealthLeaders.

Get the latest on healthcare leadership in your inbox.