Mount Sinai Researchers Receive $13 Million NIH Grant to Study Impact of Genome Sequencing on Children’s Health Outcomes and Health Care Costs
NYCKidSeq study aims to advance use of genomic medicine for underserved NYC children and assess improved management of childhood disease
Researchers at the Icahn School of Medicine at Mount Sinai have been awarded $13 million from the National Institutes of Health (NIH) pending available funds, for a four-year research program, the NYCKidSeq study, that aims to evaluate how genome sequencing can improve health care management by studying the ability to diagnose and treat three areas of childhood disease: inherited neurologic disorders, primary immunodeficiencies, and cardiovascular disorders. It is the first clinical study of genome sequencing in children to be supported by a federal grant awarded to Mount Sinai. Click here to view a video on the research.
The funding is part of Phase II of a federally funded program called CSER2 (Clinical Sequencing Evidence-Generating Research) — a national multisite research program that evaluates the integration of genome sequencing into clinical care.
NYCKidSeq will offer genome sequencing to 1,100 underserved children from the Bronx and Harlem suspected to have a genetic disease and evaluate whether genome sequencing leads to better health outcomes, and how it impacts patients, families, medical professionals, and health systems. These specific populations of children often lack access to quality care and lag in benefiting from advances in research and technology.
“Simply put, knowledge of genetic variants is not equal across different populations,” said Eimear Kenny, PhD, Assistant Professor of Genetics and Genomic Sciences at The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, who is the study’s Principal Investigator. “The past decade of large-scale genomic data generation has been conducted primarily in individuals of European ancestry,” says Dr. Kenny. “It is imperative that geneticists sequence and investigate a much broader ensemble of populations that are representative of the rich diversity of patients in New York City and the world.”
The program’s other principal investigators are Bruce Gelb, MD, Gogel Family Professor of Child Health and Development and Professor of Pediatrics, and Genetics and Genomic Sciences, at the Icahn School of Medicine at Mount Sinai, and Director of The Mindich Child Health and Development Institute; Carol Horowitz, MD, Professor, Population Health Science and Policy, Icahn School of Medicine at Mount Sinai; and Melissa Wasserstein, MD, Associate Professor, Chief of Pediatric Genetic Medicine, Albert Einstein College of Medicine/Montefiore Health System.
“Overall, this work will inform the genomic and clinical communities about how to implement genomic medicine in a diverse population in a clinically useful, technology savvy, culturally sensitive, and ethically sound manner,” said Dr. Gelb.
The program consists of four distinct aims. In the first aim, researchers will evaluate the effectiveness of genome sequencing compared to standard genetic diagnostic tests that usually look at just a handful of genes. Researchers will also compare the impact of the two genetic testing modalities on clinical interventions, therapeutic changes, and quality of life, as well as their effects on the health system. In the second aim, researchers will engage stakeholders, including patients, families, doctors, and hospital administrators, in genomic medicine approaches so they can better understand potential clinical benefits. The third aim will compare results of traditional in-person genetic counseling vs. telemedicine to determine if access to genetic testing can be improved through telemedicine using Skype and web-based patient portals to view test results. In the fourth aim, researchers will investigate whether barriers to implementing genetic testing in health systems can be mitigated by presenting results in a way that is educational and interactive. To test this, researchers will create new health system technologies for reporting of genetic information that deliver the latest research findings from genetic and medical databases and infographics that show the location and mechanism of the mutations in each patient’s body.
“The findings from this pioneering study will have significant impact on current and future research in genomic diagnostics and personalized medicine,” says Dennis S. Charney, MD, Anne and Joel Ehrenkranz Dean, Icahn School of Medicine at Mount Sinai, and President for Academic Affairs, Mount Sinai Health System. “Genomic diagnostics for these disorders have the potential to transform the lives of affected families and communities, and impact human health on a global scale. We thank the NIH for their support and recognition and are excited to be part of this groundbreaking endeavor.”
The Mount Sinai Health System is taking a leading role in precision medicine through research and clinical programs including personalized cancer therapy programs and improved monitoring of chronic disease conditions, such as diabetes.
Other institutions involved in this program include the Albert Einstein School of Medicine and New York Genome Center. The divisions and departments involved in this program from the Icahn School of Medicine at Mount Sinai include The Charles Bronfman Institute for Personalized Medicine, The Mindich Child Health and Development Institute, the Department of Population Health Science and Policy, the Division of Medical Genetics, the Department of Medicine, the Department of Genetics and Genomic Sciences, the Icahn Institute for Genomics and Multiscale Biology, and the Center for Statistical Genetics.
To learn more about the latest advancements in genomic testing, please visit http://icahn.mssm.edu/research/genomics.
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