Northwell Health - Feinstein Institute for Medical Research

Summer 2017

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Genetics at the bedside DNA blood screening will become part of the diagnostic process for all patients at Northwell Health. Using a DNA "chip" called the Global Screening Array (GSA), clinicians expedite diagnoses by screening patients for disease indicators expressed in their genes. The results help tailor treatments to each patient. Patients can also volunteer for their samples to be part of the biobank and used in future research studies. "Northwell Health is one of the first health organizations to incorporate a GSA into its standard diagnostic protocols," said Peter K. Gregersen, MD, head of the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute. "This cutting-edge technology helps accelerate diagnosis and identify effective treatment while also providing data to help researchers develop the next generation of targeted therapies." The Northwell Health Biobank stores blood and tissue samples obtained from patients representing the most diverse population in the United States. The wealth of genetic information housed in the biorepository allows researchers at the Feinstin Institute and other partner institutions, including Cold Spring Harbor Laboratory (CSHL), to investigate and design novel, individualized protocols to predict, prevent and treat disease. "With the biobank, we are aiming not only to advance research and discovery, but to establish new standards of care for patients," said James M. Crawford, MD, PhD, executive director and senior vice president of laboratory services for Northwell Health. "The system we have established with the biobank can be seen as a circle. Northwell Health provides patient care and obtains tissue or blood that can be used for research. Samples give researchers vital insight into human biology. We then bring the discoveries made at the Feinstein Institute and at partners such as CSHL back to our patients for first-in-human clinical trials and therapy." A research resource for numerous conditions The applications of this bedside-to-bench-to-bedside method increase all the time, as researchers use the repository and the investigatory pathways it has opened to explore the genetic underpinnings of cancer. In the GREAT Kids (Genomics for Risk Evaluation and Anti-cancer Therapy in Kids) study, Feinstein Institute researcher Kenan Onel, MD, looks for markers in the genes of pediatric cancer patients and their families that could signal genetic predisposition to the disease and be used to help prevent cancer from developing in others. Dr. Onel plans to extend this research into exploring how genetics and environmental factors influence the development of other diseases with the LIFE (Long Island Family Empowerment) Project, which will follow 20,000 Northwell Health pediatric patients and their parents for life. Earlier this year, Northwell Health took its cancer biobanking efforts to new heights with the creation of a dedicated oncologic biorepository created with support from Indivumed, a German company specializing in personalized anti-cancer agents. A complement to the health system's existing collection of patient samples, the new biobank will house cancer tissues from a variety of hospital sites and allow Northwell Health patients to take part in advanced research and receive standard curative therapy concurrently, according to Dr. Crawford. "Our expanded ability to obtain human tissue for translational research promotes a better understanding of the interaction between cell biology and response to therapy," said Peter K. Gregersen, MD, founder of the Northwell Health Biobank and head of the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute. "That is an essential factor in developing targeted therapies." A living biobank Biobanking has the potential to help researchers develop individualized therapies for a host of non-oncologic diseases, and Dr. Gregersen explores that promise through the biobank and a nontraditional program called the Genotype and Phenotype (GaP) registry. During the past decade, more than 7,000 GaP volunteers have formed a "living biobank" of research subjects who agree to participate in certain studies — more than 80 to date — based on their genetic composition. One such study focuses on a female reproductive disorder that is notoriously difficult to diagnose: endometriosis. Using the GaP registry, Dr. Gregersen and colleagues are developing a novel test that may allow clinicians to identify the disease early and eliminate the need for diagnostic laparoscopy and therapeutic surgery. GaP is poised to grow, with plans in the works to expand the registry to 50,000 volunteers so researchers around the globe can tap this unique biobank for a range of projects. Learn more about the Feinstein Institute's genetics and genomics research at 4healthier.me/NWSD-genetics. FeinsteinInstitute.org 5 Innovation

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