Eimear Kenny, PhD, left, and Noura S. Abul-Husn, MD, PhD
The Icahn School of Medicine at Mount Sinai has received a $7 million grant from the National Human Genome Research Institute (NHGRI) to create new methods and protocols for assessing disease risk that are based on DNA variants from large populations of people with diverse, multi-ethnic ancestry.
Under the grant, Mount Sinai’s Institute for Genomic Health will recruit 2,500 adult and pediatric patients from underserved populations to be part of a clinical trial that will be run in partnership with Mount Sinai’s Division for Genomic Medicine in the Department of Medicine, and The Charles Bronfman Institute for Personalized Medicine.
The goal of the clinical trial is to help advance the use of genomic information in the clinical setting for all populations. This would provide patients with a greater understanding of their health risks, and it would provide doctors with more information to help their patients achieve better health.
“This type of genomic information is very new and Mount Sinai will be one of the first institutions to bring it out of the research realm and into the clinical realm,” says Eimear Kenny, PhD, Director of the Institute for Genomic Health, Associate Professor of Medicine, and Genetics and Genomic Sciences, who is the Principal Investigator of the grant. “By redressing underrepresentation in scientific and medical research we are able to promote health equity.”
Mount Sinai’s new clinical trial will focus on the creation of polygenic risk scores (PRS) for non-European populations. The risk scores are derived from DNA variants that are used to create a mathematical aggregate of risk for diseases and have emerging applications in clinical care.
“Our goal is to use PRS to better understand who is at the highest risk for certain diseases so that we can prevent them from happening or manage them in a more tailored way,” says Noura S. Abul-Husn, MD, PhD, Chief of the Division of Genomic Medicine, Clinical Director of the Institute for Genomic Health, Associate Professor of Medicine, and Genetics and Genomic Sciences, and co-Principal Investigator of the grant.
The grant’s two other co-Principal Investigators include Barbara Murphy, MD, the Murray M. Rosenberg Professor and Chair of the Department of Medicine, and Dean for Clinical Integration and Population Health, and Judy H. Cho, MD, Director of The Charles Bronfman Institute for Personalized Medicine, Professor of Medicine (Gastroenterology), and Genetics and Genomic Sciences, and Dean of Translational Genetics.
“To date, large biorepositories used for genomics research have been almost exclusively composed of people of European ancestry,” says Dr. Cho, Director of Mount Sinai’s BioMe Biobank. The BioMe Biobank, which will be used in this study, allows investigators to conduct genetic, epidemiologic, molecular, and genomic studies on large collections of research specimens linked with medical information. This will allow the researchers to better understand the impact of PRS in multi-ethnic patients.
“A patient’s disease risk is based on many factors, including family history and environmental factors,” Dr. Murphy says, so the use of PRS would add a “genomic layer to better understand individual risk.”
Mount Sinai’s new, five-year grant from NHGRI is part of the National Institutes of Health’s Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, which has provided $75 million in funding to nine academic medical institutions to advance the role of genomics to improve health care among diverse populations.
Mount Sinai and the eight other academic medical centers within the eMERGE network will decide which 15 common and complex diseases of public health importance to focus on. They will help establish the use of genomic information in electronic health records and develop tools and workflows for integrated risk scores. In addition, Mount Sinai’s clinical trial will explore whether this genomic information impacts communication between doctors and patients, clinical interventions, and psychosocial outcomes.