Mayo Clinic researchers will receive more than $3 million in a four-year grant from the National Human Genome Research Institute to translate recent genomic discoveries into tools for individualized medicine. Recent advances in the genetics of heart and blood vessel diseases will be integrated into electronic medical records so doctors can more accurately determine patients' risk of heart attacks, blood vessel diseases and adverse reactions to heart medications.
"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," says Iftikhar Kullo, M.D., Mayo cardiologist and co-principal investigator on the award. "The goal is to accelerate the translation of recent advances in genetics and pharmacogenetics to the clinical practice, leveraging the electronic medical record."
The grant is part of the second phase of the Electronic Medical Records and Genomics Network, also known as eMERGE, a multisite effort to use data from a large number of medical records to enable genome-wide association studies. Mayo researchers will work with other eMERGE sites.
"This is an opportunity to expand the number and scope of conditions that we can look at across a larger consortium of practices," says Christopher G. Chute, M.D., Dr. P.H., Mayo Clinic biomedical informatics researcher and co-principal investigator. "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 first phase of eMERGE, which wrapped up earlier this year, demonstrated that information on disease characteristics in electronic medical records and patients' genetic information can be used in large genetic studies. So far, the network has identified genetic variants associated with dementia, cataracts, high-density lipoprotein-cholesterol, red blood cell traits, type 2 diabetes and cardiac conduction defects.
In phase II, investigators will identify genetic variants associated with 21 more diseases and medically relevant traits using genome-wide association studies across the entire eMERGE network. About 32,000 participants' DNA will be analyzed in each study. A genome-wide association study is a powerful technique in which researchers study hundreds of thousands of genetic variants in people with and without certain health conditions to identify genes that cause or contribute to diseases.