In an endeavor to translate modern genomic discoveries into tools for personalized medicine, the National Human Genome Research Institute has awarded researchers at Mayo Clinic a four-year grant of more than $3 million.
In order to facilitate accurate determination of a patient’s risk of developing blood vessel diseases, heart attacks, and adverse reactions to heart drugs, recent advances in the genetics of heart and blood vessel diseases will now be incorporated into electronic medical records for the ease of physicians.
Iftikhar Kullo, M.D., Mayo cardiologist and co-principal investigator on the award said: “We will develop genetic risk scores for heart attack and adverse drug reactions as well as tools to communicate genomic risk to both patients and care providers. The goal is to accelerate the translation of recent advances in genetics and pharmacogenetics to the clinical practice, leveraging the electronic medical record.”
The Electronic Medical Records and Genomics Network (eMERGE) is a multisite attempt to utilize information from numerous medical records to facilitate genome-wide association studies (GWAS). The grant is included in the second phase of eMERGE, and Mayo researchers will work with other eMERGE sites.
Christopher G. Chute, M.D., Dr. P.H., Mayo Clinic biomedical informatics researcher and co-principal investigator said, “This is an opportunity to expand the number and scope of conditions that we can look at across a larger consortium of practices. We are beginning to integrate genomic information into electronic medical records with the goal of providing tools for physicians to meet the needs of the patient.”
The completion of the first phase of eMERGE early this year demonstrated that large genetic studies can utilize data on disease characteristics from genetic information and electronic medical records of patients. Thus far, genetic variants associated with high-density lipoprotein-cholesterol, dementia, cataracts, red blood cell traits, type 2 diabetes, and cardiac conduction defects have been identified by the network.
By utilizing GWAS through the entire eMERGE network, researchers are expected to identify medically pertinent traits and genetic variants linked with 21 more diseases in phase II.
Each study will facilitate DNA analysis of nearly 32,000 participants. A powerful technique like GWAS is employed by researchers to identify disease-causing genes and to learn about thousands of genetic variants in people, regardless of their health conditions.