Weill Cornell Medicine, NewYork-Presbyterian Hospital, and Illumina Collaborate on Scalable Clinical Whole-Genome Sequencing Initiative

NEW YORK, Dec. 3, 2020 /PRNewswire/ — Seeking to advance the scope of precision medicine, Weill Cornell Medicine, NewYork-Presbyterian Hospital, and Illumina, Inc. are entering into a collaboration to sequence the complete human genomes of thousands of consenting patients, in order to identify genetic alterations driving disease and potentially reveal previously unidentified therapies for treatment. The initiative, which also includes a collaboration between Weill Cornell Medicine, NewYork-Presbyterian Hospital, and the New York Genome Center (NYGC), aims to evaluate the diagnostic potential of whole-genome sequencing at scale, which allows the interrogation of the full genome sequence of a patient’s DNA. The goal is to better understand health problems and potential disease risks of individual patients, and to design more effective treatments, including the choice of specific drugs and their dosing.

Investigators will study the feasibility and viability of large-scale implementation of whole-genome sequencing within an academic medical center that is part of a major metropolitan health care system in the United States. Whole-genome sequencing has already been shown to improve patient care and disease prevention in specific clinical contexts, but few systems have deployed whole-genome sequencing across multiple care pathways. Weill Cornell Medicine, through its Caryl and Israel Englander Institute for Precision Medicine, and NewYork-Presbyterian/Weill Cornell Medical Center, which have applied this precision medicine approach to investigate cancer’s molecular underpinnings since 2015, will be among the first medical institutions to examine the feasibility of large-scale whole-genome sequencing across multiple diseases. In addition to revealing the role individual genes play in disease and therapeutic responses, the study could also yield promising new avenues for scientific inquiry.

Under the initiative, which originates from Weill Cornell Medicine’s Englander Institute for Precision Medicine, doctors at Weill Cornell Medicine and NewYork-Presbyterian/Weill Cornell Medical Center will offer qualifying patients the option to have their genomes sequenced as part of their diagnostic workups. NYGC will leverage its high-throughput whole-genome sequencing clinical sequencing expertise to investigate patients’ DNA, using Illumina’s patented Next-Generation Sequencing technology. NYGC was the first sequencing center in the country to gain regulatory approval for clinical whole-genome sequencing tests for genetic diseases and cancer from the New York State Department of Health Clinical Laboratory Evaluation Program. Board-certified molecular geneticists at NYGC will interpret and share the results with ordering physicians, who will then share them with their patients. The initiative will focus on the disease areas of oncology, cardiovascular, metabolic and neurodegenerative diseases. This first phase will inform the next steps to expand infrastructure to support more widespread testing in years to come.  

“We are committed to expanding whole-genome sequencing to cancer and other common diseases more broadly, so that the approach can eventually become a routine part of healthcare, an essential source of data for biomedical research and, importantly, enhance patient care,” said Dr. Olivier Elemento, director of the Englander Institute for Precision Medicine at Weill Cornell Medicine, who also leads joint precision medicine efforts at Weill Cornell Medicine and NewYork-Presbyterian/Weill Cornell Medical Center. “This project and the network of participating

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