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Medicine Reinvented

Weill Cornell Medicine

3. Good Health and Well-Being 10. Reduced Inequalities

Overview

There is increasing evidence supporting the application of whole-genome sequencing in diagnostic health care across many common disease areas, including cardiovascular disease, neurodegenerative disease, diabetes, and cancer. As the incidence of these diseases continues to rise, a network-wide approach is needed to translate whole-genome data into medically useful information. There is established routine, whole-genome testing on thousands of patients annually that has the potential to improve a patient’s standard of care.

Using advanced clinical whole genome sequencing tests, the Englander Institute is developing new treatments for a range of patients, including newborn screening. These reports enable disease risk prediction through the use of polygenic risk scores and provide a more precise diagnosis for rare diseases.

Authors

Samantha Silva

Samantha Silva

Marie Normile

Marie Normile

Stavros Mallas

Stavros Mallas

School

St. John's University

St. John's University

Professor

Charles Wankel

Charles Wankel

Innovation

The strategy to initiate whole-genome sequencing (WGS) as an instrument in standard medical practice will allow for a better understanding of the correlation between the biology of our genome and disease. Integrating WGS data directly into a patient’s Electronic Health Record (EHR) will allow for point-of-care utilization, accelerating the use of molecular information by physicians in the diagnosis and treatment of patients, and promoting population health by targeting at-risk individuals. The establishment of a new clinical paradigm, where a patient’s genome is sequenced once, stored in the EHR, then applied and reapplied throughout the life of the patient will result in pharmacogenomic decision support and utilization of existing genomic information for treatment and diagnosis.

This approach will also allow for the development of an innovative therapeutic target discovery engine that leverages Whole Genome data matched with clinical outcomes. Association analytics between genes and disease will drive new discoveries to help scientists map novel, druggable genomic targets, untangle the complexity of therapy-related resistance, and enable genomics-driven clinical trials. Ultimately, whole-genome precision medicine will improve patient health outcomes and generate revenue through the development of new drug targets and therapeutics in collaboration with the pharmaceutical industry.

Medicine Reinvented

Inspiration

“My group and I led the development of the first New York State-approved whole exome sequencing test for oncology, which helps clinicians identify disease-causing mutations and prescribe more targeted, effective therapies for patients. Importantly, the results from this test are integrated directly into the patient’s Electronic Health Record (EHR), which helps clinicians and researchers design more effective clinical trials, and identify patients that could benefit from various therapies. When we expanded our next-generation sequencing initiatives with the launch of a large-scale Whole Genome Sequencing (WGS) collaboration, we can now interrogate an individual’s complete DNA sequence, including non-coding regions, and has broader applications.”

“Precision medicine has proven most effective in cancer, where the disease can relatively easily be biopsied and the biopsy can be used to generate a detailed map of the disease for each patient. We now know that these disease maps, which describe the mutations that drive cancer, differ substantially between patients”, Elemento states.

“We never forget that behind each cell, behind each number, and each pattern, there’s a patient. It reminds us that we have to work harder to make their lives better - and that’s why I love what I do.” WGS aims to revolutionize healthcare to better predict, diagnose, treat and prevent disease.

Overall impact

Whole-genome sequencing is impacting the world of medicine in a huge way. As it is still in the early testing phases, WGS can change the way medical professionals scan for diseases. There are still too many diseases out there that go unnoticed due to a lack of resources and technology. With WGS, new diseases, disabilities, and developmental delays are being detected early on and doctors are able to diagnose quicker than before. As whole-genome sequencing allows for doctors to see a patient’s genes up close for mutations and health concerns, many lives will be affected, for the better.

The long-term effects are since technology is advancing every day and WGS is in the early stages, more research is constantly going into this, and as a result, better outcomes will come about. They are able to figure out the problems now and see what ways researchers can be more efficient with the data. Focus groups are being put in place to see what factors need to be worked on or added. There are still many risks but over time, these will begin to decrease. The overall impact is that the whole genome provides in-depth detail and data on identifying outbreaks that can help millions of people. It doesn’t just show your DNA but can provide details on genetic relatives which can prevent future risks.

Business benefit

New York-Presbyterian Hospital and Weill Cornell Medicine are distinguished from their competitors, as a first mover in integrating whole-genome data into routine practice and at the forefront of driving a preventative, genomics-based approach to improving patient care across all disease types. Clinicians and scientists will lead data-driven clinical trials and research by leveraging the wealth of information generated and synthesized by this effort. Patients, providers, and students will benefit from being immersed in a precision medicine-based health care network that embraces new technologies and stands at the forefront of innovation, accelerating medical research and improving patient care.

Medical professionals are still concerned about the risks; however, with the research that these hospitals are doing, they are becoming more comfortable with the idea with more research being constructed. More employees are being hired due to the intensive research needed which increases retention, wellbeing, etc. Revenue is rising and creating new processes opens up a huge amount of investment opportunities for the business.

This innovation doesn’t only benefit this business/medical site but hospitals and medical sites across the world. The benefit to the business is the benefit it has on its patients. With the detailed data that comes from WGS, more patients will get the help they need, diseases will be stopped before they get too far.

Social and environmental benefit

Clinical Whole Genome Sequencing will improve outcomes of minority/underserved communities through collaborative and ethical research, to achieve rigorous and impactful research discoveries. Through expanded whole-genome sequencing, researchers can better develop disparities research studies that characterize disease diversity to expand our knowledge of biological determinants that drive disparate clinical presentations and outcomes across multi-ethnic populations. Ultimately, our endeavors will advance precision medicine efforts in underserved populations, providing opportunities to establish diagnostic tools and targeted therapies for ethnically diverse patients.

1. Enhance trust between the minority/underserved community and research programs

2. Refine the current standards of disparities research among research investigators, challenging assumptions of race-based medicine and developing better science communication in relevant communities.

3. Increase participation of diverse patient groups in clinical trials and translate research findings into clinical practices (establish novel trials to benchmark clinical utility of current standards).

Interview

Olivier Elemento, Phd, Director, Englander Institute for Precision Medicine & Associate

Photo of interviewee

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Weill Cornell Medicine

Weill Cornell Medicine

New York City, NY, US

Business Website: https://eipm.weill.cornell.edu/

Year Founded: 1898

Number of Employees: 5001 to 10000

Precision Medicine utilizes powerful new tools to gain greater insight into the unique features of each patient’s disease, develop new methods of personalized treatment, and improve care. The Caryl and Israel Englander Institute for Precision Medicine at Weill Cornell Medicine is a multidisciplinary translational research hub that uses genomics, artificial intelligence (AI), and other technologies to develop and bring highly personalized medicine to patients at Weill Cornell Medicine’s affiliated hospital partner, New York-Presbyterian Hospital, and elsewhere.