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Genomics and Healthcare Conference Discusses Nerve and Developmental Disease, Cancer, Ethics and Policy, and The Genomics Frontier

October 6, 2015

NYC brought world-renowned physicians, scientists and healthcare experts together to discuss genomics and personalized medicine.

On September 28, 2015 the New York Genome Center co-hosted a Genomics and Healthcare Conference, with the NewYork-Presbyterian Health Policy Center, NY State Department of Health, Health Research Inc. and NY Academy of Medicine.

The event, hosted at the New York Academy of Medicine, was a one day conference for all— patients, physicians, families, the public, scientists and non-scientists — who wanted to know more about how DNA helps diagnose and treat diseases today, and how it will further personalize patient care tomorrow. Speakers included experts in the clinical uses of genomic medicine and the ethical, legal, social and policy implications of this ongoing revolution in healthcare.

Opening remarks featured Anthony Shih, MD, MPH, New York Academy of Medicine; Dr. Herb Pardes, Executive Vice Chairman of NewYork-Presbyterian; and Dr. Robert Darnell, President, CEO and Scientific Director of the New York Genome Center. Dr. Shih welcomed attendees to the New York Academy of Medicine, which was established in 1847 to address the health challenges facing New York City and other cities worldwide. Dr. Pardes introduced the New York Genome Center and described it as a hub bringing together many important forces, which will help produce answers to destructive diseases. Next, Dr. Pardes introduced Dr. Darnell who described how technology has the ability to transform what we understand about biology and help people who are sick. He discussed multiple examples of the clinically actionable value in going beyond exome sequencing and panel assays to sequence the whole genome, noting that using genomics for healthcare will require a cost to benefit analysis.

Session One: Nerve and Developmental Disease

Featured: Thomas Insel, MD, Director of the National Institute of Mental Health; Daniel Weinberger, MD, Director and CEO of the Lieber Institute for Brain Development; and David Housman, PhD, Ludwig Professor of Biology at MIT.

Dr. Insel began by stressing that new technology might drive more progress than new concepts. Looking forward, he stated that genomics gives us new footholds into understanding disease and that it may redefine diagnosis. Dr. Weinberger discussed schizophrenia, which he called the cancer of mental illness. He additionally presented research suggesting that developmental syndrome genes are overexpressed in fetal life. Dr. Housman introduced to the audience the disease Myotonic Dystrophy, which affects more than 1:8000 individuals. This was the first disease gene identified that did not map the X chromosome. He stated that newborn screening can be effective and discussed challenges of genetic testing. For example, tests could produce more information than may be helpful at the time of testing and results can impact other family members.

Session Two: Cancer

Featured: Andrew Kung, MD, PhD, NewYork-Presbyterian and Columbia University Medical Center; Funmi Olopade, MD, University of Chicago.

Dr. Kung explained that while 80% of children diagnosed with cancer are cured, cancer is still the leading cause of non-accidental deaths in the pediatric population. He stated that precision medicine holds the promise of delivering the right drug for the right patient at the right time. Dr. Olopade focused on breast cancer and explained that the most important risk factor for breast cancer is having breasts and genomic analysis needs to address more than diagnosis by focusing on who is at risk for dying of breast cancer. Genomics provides the opportunity to have a global impact on disease. Dr. Olopade’s ongoing work surrounds sequencing breast cancer in Nigerian patients and she hopes that genomics will lead to personalized risk assessment.

Session Three: Ethical and Policy Questions in Genomics

Featured: Tom Maniatis, PhD; Columbia University Medical Center; Howard Zucker, MD, JD, Commissioner of Health for New York State; and Nancy Wexler, PhD, Higgins Professor of Neuropsychology, Columbia University College of Physicians and Surgeons and President, Hereditary Disease Foundation.

Dr. Maniatis described the need for a change from the old, competitive model of doing research. He argued that consortium-based models of research hold the promise to drive productive research, highlighting the importance of cooperation between the ALS non-profits and the importance of engaging patients. Dr. Zucker introduced ethical concerns raised by genomics. Because there is precedence for misuse of medical information, there is a need to protect patients from discrimination in areas such as employment and insurance coverage. He stressed that the ethical implications of genomics are serious and that the time is now to devise ways to use it appropriately. Genomics is information that can shape the way we think of ourselves and impact who we are and who we become. Dr. Wexler emphasized the importance of ethical considerations of genomics and described her role in leading that effort as part of the Human Genome Project. She explained her study of the genetics of Huntington’s disease as part of the Gene Hunters Consortium and their discovery of the first DNA marker for any genetic disease.

Session Four: Genomics Frontier

Featured: Rahul Satija, PhD, from the New York Genome Center and NYU; and Harold Varmus, MD, of Weill Cornell and the New York Genome Center.

Dr. Satija discussed building a molecular microscope with single cell genomics. He explained that traditionally, researchers use a mix of roughly 1 million cells as input to RNA-seq, but he has helped to develop methods to sequence one cell at a time. Through his analyses, Dr. Satija was able to uncover groups of cells that they didn’t know existed, including a new rare population of dendritic cells in human blood. Dr. Varmus concluded the session, discussing precision medicine in oncology. He referenced President Obama’s Precision Medicine Initiative (PMI) and described that cancer is the starting point for the PMI and it has critical differences from other genetic diseases. For example, cancer typically results from the culmination of multiple mutations and is highly varied between cases. He stressed that cancer genomes are complex, and every tumor is different.

Dr. Pardes took the stage to conclude the day by highlighting several key themes that emerged, including that there is great promise for genomics, collaborative research is more productive, and communicating genomics and healthcare to the public is important.

Videos of the full program are featured on the New York Genome Center’s website, https://www.nygenome.orghome/events/#video-archive.

About the New York Genome Center
The New York Genome Center (NYGC) is an independent, nonprofit at the forefront of transforming biomedical research and clinical care with the mission of saving lives. As a consortium of renowned academic, medical and industry leaders across the globe, NYGC focuses on translating genomic research into clinical solutions for serious disease. Our member organizations and partners are united in this unprecedented collaboration of technology, science, and medicine. We harness the power of innovation and discoveries to improve people’s lives — ethically, equitably, and urgently. Member institutions include: Albert Einstein College of Medicine, American Museum of Natural History, Cold Spring Harbor Laboratory, Columbia University, Cornell University/Weill Cornell Medical College, Hospital for Special Surgery, The Jackson Laboratory, Memorial Sloan Kettering Cancer Center, Icahn School of Medicine at Mount Sinai, New York- Presbyterian Hospital, The New York Stem Cell Foundation, New York University, North Shore-LIJ, The Rockefeller University, Roswell Park Cancer Institute, Stony Brook University and IBM.

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