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

Associated Collaboration with the New York Genome Center to Expand Patient Access to Advanced Genomic Technologies

Genome map

New York (December 3, 2020) — 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.  

A man poses for a photo

Dr. Olivier Elemento. Credit: Travis Curry

“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 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.”

“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.” 

“Working together to deploy whole-genome sequencing as a front-line test in an American healthcare system is truly trailblazing,” said Dr. 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."

“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 Dr. Tom Maniatis, the Evnin Family Scientific Director and Chief Executive Officer of the New York Genome Center. “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.”

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.

Patients who enroll in the initiative will consent to their participation in human research, and to having their genomes sequenced. They will own their results and can have access to them as part of their clinical record, if so desired. Patients may also choose to consent to the sharing of their genomic results with scientists at Weill Cornell Medicine, and potentially outside academic institutions and industry collaborators, for further scientific research and discovery of innovative therapeutics and diagnostics. Should patients authorize such sharing, their clinical information will be deidentified to protect patient privacy. WGS patient data will never be sold to outside parties.

New York Genome Center

The New York Genome Center (NYGC) is an independent, nonprofit academic research institution that serves as a multi-institutional hub for genomic research. Leveraging our strengths in whole-genome sequencing and genomic analyses, our mission is the advancement of genomic science and its application to drive novel biomedical discoveries. NYGC’s areas of focus include the development of computational and experimental genomic methods and disease-focused research to better understand the genetic basis of cancer, neurodegenerative disease, and neuropsychiatric disease. In 2020, the NYGC also has directed its expertise to COVID-19 research.

NYGC harnesses the expertise and builds on the combined strengths of our faculty, staff scientists, member institutions, scientific working groups, affiliate members, and industry partners to advance genomic discovery. Central to our scientific mission is an outstanding faculty who lead independent research labs based at the NYGC, and hold joint tenure-track appointments with one of our member institutions.

Institutional founding members of the NYGC are: Cold Spring Harbor Laboratory, Columbia University, Albert Einstein College of Medicine, The Jackson Laboratory, Memorial Sloan Kettering Cancer Center, Icahn School of Medicine at Mount Sinai, NewYork-Presbyterian Hospital, New York University, Northwell Health, The Rockefeller University, Stony Brook University, and Weill Cornell Medicine. Institutional associate members are: American Museum of Natural History, Georgetown Lombardi Comprehensive Cancer Center, Hackensack Meridian Health, Hospital for Special Surgery, The New York Stem Cell Foundation, Princeton University, Roswell Park Cancer Institute, and Rutgers Cancer Institute of New Jersey. For more information visit www.nygenome.org


Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture and other emerging segments. To learn more, visit www.illumina.com and follow @illumina.


NewYork-Presbyterian is one of the nation’s most comprehensive, integrated academic healthcare systems, encompassing 10 hospital campuses across the Greater New York area, more than 200 primary and specialty care clinics and medical groups, and an array of telemedicine services. 

A leader in medical education, NewYork-Presbyterian Hospital is the only academic medical center in the nation affiliated with two world-class medical schools, Weill Cornell Medicine and Columbia University Vagelos College of Physicians and Surgeons. This collaboration means patients have access to the country’s leading physicians, the full range of medical specialties, latest innovations in care, and research that is developing cures and saving lives.

Ranked the #4 hospital in the nation and #1 in New York in U.S. News & World Report’s Best Hospitals rankings, NewYork-Presbyterian Hospital is also recognized as among the best in the nation in the U.S. News Best Children’s Hospitals rankings. Founded nearly 250 years ago, NewYork-Presbyterian Hospital has a long legacy of medical breakthroughs and innovation, from the invention of the Pap test to pioneering the groundbreaking heart valve replacement procedure called TAVR.

NewYork-Presbyterian’s 47,000 employees and affiliated physicians are dedicated to providing the highest quality, most compassionate care to New Yorkers and patients from across the country and around the world.

For more information, visit www.nyp.org and find us on Facebook, Twitter, Instagram, and YouTube.

Weill Cornell Medicine

Weill Cornell Medicine is committed to excellence in patient care, scientific discovery and the education of future physicians in New York City and around the world. The doctors and scientists of Weill Cornell Medicine — faculty from Weill Cornell Medical College, Weill Cornell Graduate School of Medical Sciences, and Weill Cornell Physician Organization—are engaged in world-class clinical care and cutting-edge research that connect patients to the latest treatment innovations and prevention strategies. Located in the heart of the Upper East Side’s scientific corridor, Weill Cornell Medicine’s powerful network of collaborators extends to its parent university Cornell University; to Qatar, where Weill Cornell Medicine-Qatar offers a Cornell University medical degree; and to programs in Tanzania, Haiti, Brazil, Austria and Turkey. Weill Cornell Medicine faculty provide comprehensive patient care at NewYork-Presbyterian/Weill Cornell Medical Center, NewYork-Presbyterian Lower Manhattan Hospital, NewYork-Presbyterian Queens and NewYork-Presbyterian Brooklyn Methodist Hospital. Weill Cornell Medicine is also affiliated with Houston Methodist. For more information, visit weill.cornell.edu.

Use of Forward-Looking Statements

This release contains forward-looking statements that involve risks and uncertainties, including the expectation for lower costs related to the storing and managing of genomic data costs. Among the important factors that could cause actual results to differ materially from those in any forward-looking statements are: (i) challenges inherent in developing, manufacturing and launching new products and services; (ii) our ability to further develop and commercialize our instruments and consumables, to deploy new products, services and applications, and to expand the markets for our technology platforms; and (iii) our ability to successfully identify and integrate acquired technologies, products or businesses, together with other factors detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are released beforehand. We undertake no obligation, and do not intend, to update these forward-looking statements, to review or confirm analysts’ expectations, or to provide interim reports or updates on the progress of the current quarter.

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