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A new large-scale human genome sequencing research project, called the Mount Sinai Million Health Discoveries Program, has just been launched by Mount Sinai Health System and the Icahn School of Medicine at Mount Sinai with the Regeneron Genetics Center (RGC).

Starting this year, 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. The goal is to generate a unique data set that will help researchers assess the true potential of genetics-based, precision medicine approaches to guide everyday patient care as well as drug discovery and development.

xThe team plans to combine the RGC’s 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.

“For decades, we have hoped that genetics would offer doctors the blueprints to each patient’s unique health care 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,” said Alexander W. Charney, MD, PhD, Associate Professor of Psychiatry, and Genetics and Genomic Sciences, at Icahn Mount Sinai and project leader.

“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.”

One of those ways is to adopt streamlined approaches to the enrollment process, some of which were inspired by adjustments Charney and others had to make in 2020 during the peak of the COVID-19 pandemic.

“At the height of the pandemic, our interactions with patients were highly restricted. We knew that we wanted to study the genetics of these patients, and we already had blood samples. So out of necessity, we recruited the patients later by phone. To our surprise, this greatly increased recruitment rates,” said Charney.

Powerful Sequencing and a Diverse Population

Charney and Girish N. Nadkarni, MD, MPH, were appointed recently as Co-Directors of The Charles Bronfman Institute for Personalized Medicine at Icahn Mount Sinai. The Million Health Discoveries Program will be administered by the Institute, which spearheaded a forerunner of the program called BioMe, an electronic medical record-linked biobank. Patients will be recruited at the Mount Sinai Health System, which handles about 4 million patients per year and stores their health data in its electronic medical records systems.

The RGC will perform exome sequencing and whole-genome genotyping on all DNA samples, as well as whole-genome sequencing on a large subset of samples. The Program will also benefit from Vibrent Health’s experience as the technology platform for the National Institutes of Health’s million-person All of Us Research Program.

“The Mount Sinai patient population is spectacularly diverse and well-served by health care providers who truly believe in the potential of precision and genetics-based medicines as well as the application of genomics and digital health to improve health outcomes for all,” said Aris Baras, MD, Senior Vice President at Regeneron and Head of the RGC.

“Almost all the information we need for this study is already embedded in the electronic medical records. 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,” said Nadkarni. “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.”

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