Mount Sinai, Regeneron unveil plans to sequence and study 1M patients' genomes

New York-based Mount Sinai Health System and biotech giant Regeneron have kicked off a new research project aiming to uncover new therapies and more customized care strategies from the sequenced genomes of 1 million patients.

The so-called Million Health Discoveries Program will recruit consenting patients over the next five years to build a database of sequenced DNA samples that are paired with de-identified patient records, according to a Friday announcement from the organizations.

“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,” Alexander Charney, M.D., an associate professor at Mount Sinai’s Icahn School of Medicine and the project’s lead, said in the press release.

Charney and others with the Icahn School of Medicine will be quarterbacking the program, which will also feed into other research initiatives at the school’s personalized medicine institute focused on, for instance, multimodal data science and last-mile experimental interventions.

The Regeneron Genetics Center (RGC), a research group within the larger biotech, will be conducting exome sequencing and whole-genome genotyping by sequencing analysis on DNA samples collected through the project, per the announcement. Additionally, the center will conduct whole-genome sequencing on “a large subset” of the samples.

Also involved in the effort is Vibrent Health, a digital health technology platform that provides the infrastructure for biomedical research such as the National Institutes of Health’s large-scale human genome project, the All of Us Research Program. Vibrent’s “robust privacy-preserving platform” will support data collection, e-consent and other engagement throughout Mount Sinai and Regeneron’s collaboration, according to the announcement.

For its role in the program, Regeneron will be given access to the project’s genetic sequencing and stripped-down patient records, Mount Sinai project leads told The New York Times.

The biotech company had already worked with Mount Sinai on a predecessor biobank launched by the health system, called BioMe.

Unlike the previous effort, Mount Sinai researchers said the Million Health Discoveries Program will benefit from a vastly streamlined enrollment and consent process inspired by strategies developed during 2020 when direct patient interactions were restricted.

Researchers and executives also said the scale and diversity of Mount Sinai’s patient population—roughly 4 million per year, many of whom live in New York City—could help the database stand out from similar efforts.

“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,” Aris Baras, M.D., SVP at Regeneron and head of RGC, said in the press release. “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.”

Mount Sinai’s announcement stated that patient enrollment would begin this year, although the NYT reports those efforts have already kicked off among those receiving blood tests as part of routine care.

It’s been a busy news week for the academic medical center and its school of medicine, which recently announced it would be spinning out a new company aimed at developing vaccines against “current and potential future pandemic threats, as well as diseases of profound unmet medical need.”

Called CastleVax, the effort leans on a novel platform that, according to the system, has seen strong interim results in a phase 1/2 study targeting COVID-19 variants.