Mount Sinai Health System and the Ichan School of Medicine at Mount Sinai have launched a new human genome sequencing research project called the Mount Sinai Million Health Discoveries Program with 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.
“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 the we wanted to study the genetic 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 other’s 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 program will be part of other initiatives within the Institute, including multimodal data science, deep phenotyping of patients with informative genetic variation, and last-minute 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.
Patent enrollment will begin in 2022.
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