Mount Sinai Announces Genetic Sequencing Project with the Regeneron Genetics Center

Aug. 15, 2022
Mount Sinai Health System and the Icahn School of Medicine at Mount Sinai announced on Aug. 12, the launch of a new human genome sequencing research project dubbed the Mount Sinai Million Health Discoveries Program

According to an Aug. 12 press release, Mount Sinai Health System and the Icahn School of Medicine at Mount Sinai have announced the launch of a new human genome sequencing research project called the Mount Sinai Million Health Discoveries Program. The project is in conjunction with the Regeneron Genetics Center (RGC)—part of the New York-based biotechnology company Regeneron.

The release states that “The Program aims to enroll one million Mount Sinai patients over a five-year period, making it one of the most ambitious projects of its kind and the largest Regeneron-supported sequencing effort to date. Its goal is to provide researchers with a unique data set that will help them assess the true potential of genetics-based, precision medicine approaches to guide everyday patient care, as well as to generate new insights to guide the discovery and development of potential new therapies.”

Moreover, “The collaboration team plans to combine the RGC’s massive gene sequencing capabilities and scientific research expertise with Mount Sinai’s large, diverse patient population and advanced electronic health records systems, all supported by a digital health platform developed by Vibrent Health.”

Alexander W. Charney, M.D., Ph.D., associate professor of psychiatry, and genetics and genomic sciences, at Icahn Mount Sinai and project leader, was quoted in the release saying that “For decades, we have hoped that genetics would offer doctors the blueprints to each patient’s unique healthcare needs. 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.”

“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 program, according to the release, will be part of several other initiatives in the institute including multimodal data science, deep phenotyping of patients with informative genetic variation, and last-mile experimental interventions to test new treatments before incorporating them into clinical care.

Furthermore, the program will enroll consenting patients, sequence and analyze their DNA, then link their sequence data to anonymous versions of the electronic health records for researchers to study. Patients will be recruited at the Mount Sinai Health System.

“The RGC will perform exome sequencing and whole-genome genotyping by sequencing analysis on all DNA samples, as well as whole-genome sequencing on a large subset of samples,” the release adds. “The RGC contributes similar work to the ongoing BioMe collaboration with Mount Sinai, which focuses on the broader relationship between health and the human genome. Vibrent Health, a leading digital health solutions company, will provide a robust privacy-preserving platform for e-consenting, data collection, and engagement for clinical research. The Program will also benefit from Vibrent’s experience as the technology platform for the National Institutes of Health’s million-person All of Us Research Program.”

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