Mount Sinai and Regeneron Genetics Center launch a large-scale genome sequencing project

Mount Sinai Health System and the Icahn School of Medicine at Mount Sinai have launched a new human genome sequencing research project called the Mount Sinai Million Health Discoveries Program with the Regeneron Genetics Center (RGC), part of the industry-leading, New York-based biotechnology company Regeneron.

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.

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.

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."

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 Dr. 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 Dr. Charney. "Our ultimate hope is that we can use genetics to help all patients. Our experience with the pandemic strongly supports our expectation that this project can achieve what others haven't: that is, to enroll a million patients in several years and deliver researchers the data needed to improve patient care, both in the short-term through customized care and in the longer term through the potential creation of brand-new diagnostic tests, treatments, and preventive measures."

The project will also be led by Girish N. Nadkarni, MD, MPH, 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 at Icahn Mount Sinai.

Dr. Charney and Dr. Nadkarni were appointed recently as Co-Directors of The Charles Bronfman Institute for Personalized Medicine at Icahn Mount Sinai. The Mount Sinai 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.

The Program will be part of other initiatives within the Institute, including multimodal data science, deep phenotyping of patients with informative genetic variation, and last-mile experimental interventions to rigorously test new treatments before they are incorporated into clinical care.

Like many large genetic studies, the Mount Sinai Million Health Discoveries Program will enroll consenting patients; sequence and analyze their DNA; and then link their sequence data to anonymous, or "de-identified," versions of their electronic medical records for researchers to study. 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 by sequencing analysis on all DNA samples, as well as whole-genome sequencing on a large subset of samples. 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.

"The Regeneron Genetics Center uses the power of large-scale genomic sequencing to discover and develop better therapeutics for all," said Aris Baras, MD, Senior Vice President at Regeneron and Head of the Regeneron Genetics Center. "By diversifying and expanding the population of participants in genomic studies, we can accelerate the time course for important new discoveries and the incorporation of genomics in medicine. 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. We look forward to this impactful collaboration, as we strive to advance the future of medicine together."

"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. This project exemplifies that highly promising approach," said Eric J. Nestler, MD, PhD, Nash Family Professor of Neuroscience, Director of The Friedman Brain Institute, and Dean for Academic Affairs at Icahn Mount Sinai, and Chief Scientific Officer of the Mount Sinai Health System. "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. 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 Dr. 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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