A whole-genome approach

Weill Cornell Medicine and partners announce initiative to sequence the genomes of thousands of participants to assess whole-genome sequencing's diagnostic potential

Dec 04, 2020
DDNews Staff
A whole-genome approach

NEW YORK—A multi-center collaboration has launched between Weill Cornell Medicine, NewYork-Presbyterian Hospital and Illumina Inc. to sequence the whole genomes of thousands of patients to aid in identifying the genetic drivers of diseases and hopefully pinpointing possible therapies as well. This undertaking will assess the diagnostic potential of whole-genome sequencing at scale for better disease understanding and drug design. In conjunction with this is a collaboration between Weill Cornell Medicine, NewYork-Presbyterian Hospital and the New York Genome Center.

“We are pleased to participate in these important collaborations with Weill Cornell Medicine, Illumina and the New York Genome Center. We are committed to improving the quality of life for all of our patients,” said Dr. Katherine L. Heilpern, group senior vice president and chief operating officer of NewYork-Presbyterian/Weill Cornell Medical Center. “This whole-genome sequencing initiative is particularly exciting as it begins to examine the possibilities of this new frontier and its ability to better identify diagnoses and treatments for a range of diseases.”

“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,” added 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 institutions will be the largest of its kind for clinical whole-genome sequencing in the United States, and may lead to key medical and scientific advances that improve patients’ lives for generations to come.”

Enrollment for this initiative began in October. The sequencing will be conducted for free for patients who qualify to participate, and participants will own their results and can choose to let their results be shared, at which point they will be deidentified to maintain patient privacy.

This collaboration originates from Weill Cornell Medicine’s Caryl and Israel Englander Institute for Precision Medicine. Over the course of this project, doctors at Weill Cornell Medicine and NewYork-Presbyterian/Weill Cornell Medical Center will offer patients the opportunity to have their genomes sequenced as part of their diagnostic workups. NYGC, which was the first U.S. sequencing center to secure 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, will study participants' DNA using Illumina's Next-Generation Sequencing technology. The initial focus will be on oncology, cardiovascular, metabolic and neurodegenerative diseases.

Beyond the individual patient data and new discoveries this could lead to with regards to disease mechanisms and therapeutic targets, this initiative is a testing ground to determine how feasible large-scale whole-genome sequencing is as a standard diagnostic option. Weill Cornell Medicine notes that it and the NewYork-Presbyterian/Weill Cornell Medical Center will be some of the first medical institutions to evaluate whole-genome sequencing on such a scale across multiple disease indications.

“Whole-genome sequencing and advanced bioinformatics will provide clinicians with a permanent record of a patient’s complete genetic ‘code,’ which can be interrogated throughout their lives as our understanding of the relationship between individual genetic variation and disease advances, and new life-saving therapies are developed,” Dr. Tom Maniatis, the Evnin Family Scientific Director and CEO of NYGC, commented in a press release. “Our close collaboration with Weill Cornell Medicine and NewYork-Presbyterian Hospital will explore the utility of clinical whole-genome sequencing in diagnosing cancer and other common diseases so that physicians can create individualized treatment plans and make data-driven clinical decisions.”

“Working together to deploy whole-genome sequencing as a front-line test in an American healthcare system is truly trailblazing. We are excited to pilot what is possible through combining the passion of physician-scientists in an academic medical center with the power of genomic information. We hope that biological insights from whole-genome sequencing will lead to better ways to care for people with cancer, cardiovascular disease, metabolic and neurodegenerative disorders,” stated Dr. Phil Febbo, senior vice president and chief medical officer at Illumina.


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