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Mount Sinai launches large-scale genetic sequencing project with Regeneron Genetics Center



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“For this project, we have explored several important ways to provide researchers with the large-scale, clinically focused, real-world data that are needed to truly determine the effectiveness of precision medicine and, hopefully, patient care. will improve,” — Alexander W. Charney, MD, PhD

NEW YORK (PRWEB) August 12, 2022

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 Discovery Program with the Regeneron Genetics Center (RGC), an industry-leading, New York-based Is. 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, as well as generate new insights to guide the discovery and development of potential new treatments. ,

The collaboration team plans to combine RGC’s vast gene sequencing capabilities and scientific research expertise with Mount Sinai’s large, diverse patient population and advanced electronic health record system, all supported by a digital health platform developed by Vibrant Health.

“For decades, we have hoped that genetics will provide doctors with the blueprint for each patient’s unique health care needs. Although genetics has proven to be a powerful tool for understanding rare disorders, we still have enough data to know that.” Not how effective it can be in helping to treat and diagnose most patients. A big reason is that most gene sequencing studies are not designed for it,” said Alexander W. Charney, MD, PhD, psychiatry Associate Professor of Genetics and Genomic Sciences, Icahn Mount Sinai and project leader.

“For this project, we have discovered several important ways to provide researchers with large-scale, clinically focused, real-world data that is expected to truly determine the effectiveness of precision medicine and improve patient care.”

One of those ways is to take a streamlined approach to the enrollment process, some of the adjustments Dr. Charney and others had to do 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 we wanted to study the genetics of these patients, and we already had blood samples. So according to the need, we admitted the patients later on the phone. To our surprise, it significantly 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 have not: that is, enrolling a million patients over several years and providing the researchers needed to improve patient care. Providing data, both in the short term through optimized care and in the long term through the potential creation of new diagnostic tests, treatments and preventive measures.”

The project is headed 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 Rachel Weisman, MPH, associate director of clinical operations, all Icahn at Mount Sinai.

Dr. Charney and Dr. Nadkarni were recently appointed as co-directors of The Charles Bronfman Institute for Personalized Medicine at Icahn Mount Sinai. The Mount Sinai Million Health Discovery Program will be administered by the institute, which pioneered 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 research to rigorously test new therapies before being incorporated into clinical care. interventions are involved.

Like many large genetic studies, the Mount Sinai Million Health Discovery Program will enroll consenting patients; Sequence and analysis of 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 admitted to Mount Sinai Health System, which handles about 4 million patients per year and stores their health data in its electronic medical records system.

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 to similar work in the ongoing BioMe Collaboration with Mount Sinai, which focuses on the broader relationship between health and the human genome. Vibrant Health, a leading digital health solutions company, will provide a robust privacy-preserving platform for e-consent, data collection and engagement for clinical research. The program will also benefit from Vibrant’s experience as the technology platform for the National Institutes of Health’s million-person All of Us research program.

“The Regeneron Genetics Center harnesses the power of large-scale genomic sequencing to discover and develop better therapeutics for all,” said Eris Barras, senior vice president and head of the Regeneron Genetics Center for Regeneron Genetics. “By diversifying and expanding the population of participants in genomic studies, we can accelerate the time course for important new discoveries and the inclusion of genomics in medicine. The Mount Sinai patient population is spectacularly diverse and is well supported by health care providers. who truly believe in the potential of precision and genetics-based medicine, as well as the application of genomics and digital health to improve health outcomes for all. We look forward to this impressive collaboration, as Together we strive to advance the future of medicine.”

“At Mount Sinai, precision medicine rests on a three-legged stool of gene sequencing, advanced electronic medical records and state-of-the-art 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 Icahn, dean of academic affairs at Mount Sinai and chief scientific officer of Mount Sinai. health system. “We expect that the unprecedented size and diversity of this study will provide researchers with clinically actionable information to better care for patients.”

“Almost all the information we need for this study is already embedded in the electronic medical record. This means we can greatly reduce the interview process, which in the past required a patient to consent to be enrolled in a study.” “Generally, we believe that by re-evaluating each detailed step of the enrollment process, we can increase the level of participants we need to generate meaningful data,” said Dr. Nadkarni. Which will one day help the lives of patients.”

Patient enrollment will start in 2022. for more information:

About Mount Sinai Health System

The Mount Sinai Health System is one of the largest educational medical systems in the New York metro area, with more than 43,000 employees working in eight hospitals, more than 400 outpatient practices, nearly 300 laboratories, a school of nursing, and a school of medicine. The main school. graduate education. Mount Sinai advances health for all people, everywhere, by addressing the most complex health care challenges of our time – discovering and applying new scientific learning and knowledge; develop safer, more effective treatments; Educating the next generation of medical leaders and innovators; and supporting local communities by providing high quality care to all who need it.

Through the integration of its hospitals, laboratories and schools, Mount Sinai provides comprehensive healthcare solutions from birth through geriatrics, leveraging innovative approaches such as artificial intelligence and informatics, while addressing the medical and emotional needs of patients. Places it at the center of all treatments. The health system includes approximately 7,300 primary and special care physicians; 13 joint venture outpatient surgery centers in five boroughs of New York City, Westchester, Long Island and Florida; and more than 30 affiliated community health centers. We are consistently ranked among US News & World Report’s Best Hospitals, have high “Honor Roll” status, and are highly ranked: No. 1 in Geriatrics and Cardiology/Heart Surgery, Diabetes/Endocrinology, Gastroenterology/GI Surgery , Top 20 in Neurology / Neurosurgery, Orthopedics, Pulmonology / Lung Surgery, Rehabilitation, and Urology. Mount Sinai’s New York Eye and Ear Infirmary ranks 12th in ophthalmology. U.S. News & World Report’s “Best Children’s Hospitals” has ranked Mount Sinai Cravis Children’s Hospital among the nation’s best in several pediatric specialties. The Icahn School of Medicine at Mount Sinai is one of three medical schools that have earned distinction by a number of indicators: it is consistently ranked in the top 20 by U.S. News & World Report’s “Best Medical Schools”, which U.S. News And aligns with World Report. “Honour Role” hospital, and top 20 in the country for National Institutes of Health funding and top 5 in the country for several basic and clinical research areas. Newsweek’s “The World’s Best Smart Hospitals” has ranked Mount Sinai Hospital as number 1 in New York and in the top five globally, and Mount Sinai Morningside in the top 20 globally. For more information, visit or search Mount Sinai on Facebook, Twitter and YouTube.




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