Three NYC-based institutions will be the first medical institutions to examine the feasibility of large-scale whole-genome sequencing (WGS) across multiple diseases in what will be the largest clinical WGS initiative of its kind in the United States. The collaboration will sequence the complete human genomes of thousands of patients.
The goal of the program is to advance the understanding of disease risk based on genetics, in an effort to design more effective treatments and better tailor treatment approaches across a wide variety of diseases including cancer, cardiovascular disease, and metabolic and neurodegenerative disorders.
The collaboration that aims to advance the scope of precision medicine includes Weill Cornell Medicine, NewYork-Presbyterian Hospital, and Illumina. The initiative, which also includes a collaboration with 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.
“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 Olivier Elemento, PhD, director of the Englander Institute for Precision Medicine at Weill Cornell Medicine. “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.”
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, doctors will offer qualifying patients the option to have their genomes sequenced as part of their diagnostic workups which will be done at the high-throughput facility at NYGC, which uses Illumina sequencers. Board-certified molecular geneticists at NYGC will interpret and share the results with ordering physicians, who will then share them with their patients.
“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 Katherine L. Heilpern, MD, 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.”
This first phase will inform the next steps to expand infrastructure to support more widespread testing in years to come.
“Working together to deploy whole-genome sequencing as a front-line test in an American healthcare system is truly trailblazing,” said Phil Febbo, senior vice president and chief medical officer at Illumina. “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.”
This collaboration sets out to make great strides towards improving human health and driving excellence in patient care and scientific discovery by unlocking the power of the genome. Enrollment in the initiative began in October 2020, at the discretion of participating physicians. Physicians may recommend whole-genome sequencing for patients who have had inconclusive results from other limited or target genomic panels. The whole-genome sequencing testing will be provided for free to patients who qualify for participation in the initiative.
“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,” said Tom Maniatis, PhD, the Evnin Family scientific director and CEO of the NYGC. “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.”
As part of the initiative, patients will have the opportunity to access their genetic data as part of their clinical record, which has the potential to enhance care as the understanding of the relationship between individual genetic variation and disease advances, and new life-saving therapies are developed.