Mount Sinai Health and Regeneron launch ambitious genomics collaboration

Through the Million Health Discoveries program, the Regeneron Genetics Center will sequence and analyze DNA from Mount Sinai Health patients. The data will be linked to anonymized versions of their electronic health records for a multi-site personalized medicine study by the Icahn School of Medicine.


To learn how effective genetics can be in helping to treat and diagnose most patients and in discovering and developing new treatments, Mount Sinai Health and Regeneron set out to amass a unique data set that is racially and ethnically diverse.

1 million patients will be recruited from the Mount Sinai Health System, which handles approximately 4 million patients annually, over a 5-year period. The Charles Bronfman Institute for Personalized Medicine at Icahn Mount Sinai will administer the program.

The Institute previously spearheaded a predecessor program called the BioMe, an EMR-linked biobank, and other collaborations between Mount Sinai and the RGC that focus on the broader connection between health and the human genome.

This project involved Mount Sinai patients who consented to DNA sequencing and studies associated with de-identified clinical information embedded in their EHRs.

During the pandemic, when interaction with patients was severely limited, but the large collection of available blood samples at Mount Sinai was available, the Institute recruited patients for genetic testing by telephone.

“To our surprise, this greatly increased recruitment rates,” said Dr. Alexander W. Charney, associate professor of psychiatry, genetics and genomic sciences at Icahn Mount Sinai, co-director of the Institute and Million Health Discoveries Program Project Manager in a prepared statement.

Dr. Girish N. Nadkarni, the Irene and Dr. Arthur M. Fishberg Professor of Medicine and co-director at the institute, said in the statement that to raise the levels of participants to what is needed to obtain meaningful precision medical data , the team reevaluates every step of the patient enrollment process.

“Almost all the information we need for this study is already embedded in electronic medical records. This means we can significantly shorten the interview process, which in the past has reduced the chances of a patient agreeing to be included in a study,” said Dr Nadkarni.

Vibrent Health, provider of consent platform technology for the National Institutes of Health’s Precision Nutrition for millions of people The All of Us research program will provide the platform for electronic consent, data collection and participation in clinical research that ensures patient privacy.

According to the release, the Mount Sinai Million Health Discoveries project 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 test new treatments before they are incorporated into clinical care.

“Our greatest hope is that we can use genetics to help all patients,” Dr. Charney said in a statement. “Our experience with the pandemic strongly supports our expectation that this project can achieve what others have not: that is, enroll a million patients over several years and provide researchers with the data needed to improve patient care, both in the short term and plan through personalized care and in the longer term through the potential creation of brand new diagnostic tests, treatments and preventive measures.”


As this emerging approach to disease treatment and prevention relies on volumes of data to generate new insights and develop innovative therapies and care models that can focus efforts on prevention and early disease screening, Investments in machine learning and interoperable EHRs are needed to make precision medicine a greater reality in the healthcare ecosystem.

Collaborating with technology companies and using EHR systems not only to collect the necessary data for studies, but also to Providing genetic insights to physicians at the point of care is an ongoing, rapid trend in healthcare.

According to the Mount Sinai announcement, a vast amount of clinically focused data is needed to determine the effectiveness of precision medicine in improving patient care before the widespread integration of precision medicine into US health systems.


“We expect that the unprecedented size and diversity of this study will provide researchers with clinically applicable information to provide better patient care,” said Dr. Eric J. Nestler, Nash Family Professor of Neurology, director of The Friedman Brain Institute, dean of academic affairs at Icahn Mount Sinai and CSO of Mount Sinai Health System in the release.

“By diversifying and expanding the population of participants in genomic research, we can accelerate the time to important new discoveries and the incorporation of genomics into medicine,” added Dr. Aris Barras, Regeneron senior vice president and head of the RGC.

“Mount Sinai’s patient population is impressively diverse and well-served by healthcare providers who truly believe in the potential of precision and gene-based medicine, as well as the application of genomics and digital health, to improve health outcomes for all.”

Andrea Fox is a senior editor at Healthcare IT News.
Email: [email protected]

Healthcare IT News is a publication of HIMSS.

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