Mount Sinai Health and Regeneron enter ambitious genomics collab – NewzBeta

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 multipronged study of personalized medicine by the Icahn School of Medicine.


In order to learn how effective genetics can be in helping to treat and diagnose most patients and to discover and develop new treatments, Mount Sinai Health and Regeneron are embarking to amass a unique data set that is racially and ethnically diverse.

The one million patients will be recruited from the Mount Sinai Health System, which handles about four million patients per year, over a five-year period. The Charles Bronfman Institute for Personalized Medicine at Icahn Mount Sinai will administer the program. 

Previously, the Institute spearheaded a forerunner of the program called BioMe, an EMR-linked biobank and another Mount Sinai and RGC collaboration that focuses on the broader relationship between health and the human genome. 

That project enrolled Mount Sinai patients consenting to DNA sequencing and studies related to de-identified clinical information embedded in their EHRs.

During the pandemic, when interactions with patients were highly restricted, but Mount Sinai’s large collection of available blood samples were accessible, the Institute recruited patient participation in genetics studies by phone.

“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 leader in a prepared statement.

Dr. Girish N. Nadkarni, the Irene and Dr. Arthur M. Fishberg Professor of Medicine and codirector at the institute, said in the statement that to raise participant levels to what is needed to produce a meaningful precision medicine study data, the team re-evaluates each step of the patient enrollment process.

“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. 

Vibrent Health, the consent platform technology vendor for the National Institutes of Health’s million-person precision nutrition All of Us Research Program, will provide the platform for e-consenting, data collection and clinical research engagement that ensures patient privacy.

According to the announcement, 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 ultimate hope is that we can use genetics to help all patients,” said Dr. Charney in a statement. “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.”  


Because this emerging approach for disease treatment and prevention relies on volumes of data to create new insights and develop innovative therapies and models of care that can concentrate efforts on prevention and early screening for disease, investments in machine learning and interoperable EHR are needed to help make precision medicine more of a reality across the healthcare ecosystem. 

Collaborations with tech companies and utilizing EHR systems to not only gather necessary data for studies, but also to provide genetic insights to physicians at the point of care have been an ongoing, rapid trend in healthcare. 

According to the Mount Sinai announcement, a massive amount of clinically focused data is needed to determine the effectiveness of precision medicine in improving patient care, before widely integrating precision medicine into U.S. health systems.


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

“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,” added Dr. Aris Baras, senior vice president at Regeneron and head of the RGC.

“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.”

Andrea Fox is senior editor of Healthcare IT News.

Healthcare IT News is a HIMSS publication.

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