Mount Sinai School of Medicine has been awarded a $3.4 million grant over four years from the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) to begin the largest study of its kind, in which a patient's genomic risk for disease is revealed in a lab, and then entered into an electronic medical record for use in determining treatment in the clinical care setting.
Using DNA and plasma samples provided by patients, Mount Sinai researchers from the Charles R. Bronfman Institute for Personalized Medicine (IPM) will identify genetic markers of disease for each patient enrolled in the study and input them into Mount Sinai's new electronic medical records system in a safe and secure way. Physicians who are treating these patients in the clinical setting may then electronically access this genomic information and determine susceptibility for heart disease, responsiveness to certain medications, and a personalized course of treatment.
"Discovering genetic disease risk markers of major diseases such as heart disease through genome-wide genotyping was a major advance toward personalized medicine, but thus far the genomic information of individual patients has been limited to the laboratory and research setting," said Erwin Bottinger, MD, Director of the Charles R. Bronfman Institute for Personalized Medicine, and the Irene and Dr. Arthur M. Fishberg Professor of Medicine at Mount Sinai School of Medicine. "This will allow us for the first time to bring that critical individual genetic-disease risk information to the patient setting, which we believe will eventually have a tremendous impact on the practice of medicine."
The study, called the "Biorepository for Genomic Medicine in Diverse Communities," is part of a consortium of seven leading genomic medicine institutions called Electronic Medical Records and Genomics (eMERGE). As a member of the consortium, the IPM team hopes to have enrolled up to 20,000 patients from the Mount Sinai Biobank, which consists of consented patients representing the diverse communities surrounding The Mount Sinai Medical Center.
"This grant is a significant achievement for Mount Sinai, propelling us to the forefront of personalized medicine and its application in the clinical setting," said Dennis. S. Charney, MD, Anne and Joel Ehrenkranz Dean of Mount Sinai School of Medicine and Executive Vice President for Academic Affairs of The Mount Sinai Medical Center. "The future of medicine lies in genomics research and translating it into a patient-care setting. Mount Sinai's commitment to translational research makes us uniquely poised to lead that revolution."
Mount Sinai Biobank patients have provided DNA and plasma samples to aid in genomic and personalized medicine research, allowing Dr. Bottinger's team to validate and customize 288 previously-reported single nucleotide polymorphisms (SNPs) as genetic risk markers of major diseases, including heart, kidney, and liver disease, for Mount Sinai's racially and ethnically diverse patient populations. The IPM team is committed to ensuring that this information is made available in culturally appropriate, easy to understand formats, and will have the potential to benefit all patients.
The IPM research team will create a Biobank database that will have each of these individual's genetic-disease risk profiles for heart, kidney, and liver disease, as well as their likely response to different medications and potential side effects – data that will be entered into Mount Sinai's electronic medical record system for patients who consent to participate in this new study.
The study will include one group of physicians and patients that will be randomized to a genomic-risk assessment, and another that will be randomized to a traditional risk assessment, using risk factors like cholesterol and high blood pressure when determining a patient's risk for heart disease. The team will evaluate whether the genomic-risk assessment, based on the presence of certain SNP genotypes as well as traditional risk factors, will lead to improved management of risk factors for heart disease in each patient and help prevent the onset of heart disease, as compared to the using traditional risk factors alone.
"The study will give the physicians in the genomic-risk assessment group access to each individual patient's genomic risk scores and predictors for treatment response and adverse drug reactions, allowing them to specifically tailor the patient's treatment and disease management," said Dr. Bottinger. "In addition, it gives them a rationale to treat high cholesterol and high blood pressure more aggressively to prevent them from causing or contributing to cardiovascular disease."
Additionally, the research team will also enter 3,000 Biobank patients into a pool of 32,000 patients as part of Genome-Wide Association Studies (GWAS) that will be conducted by the eMERGE consortium. The consortium hopes to identify genetic variants associated with 40 additional disease characteristics and symptoms, ideally making these genetic m available to treating physicians and allowing them to personalize their patients' treatments.