A team of twelve researchers at the Columbia University Medical Center (CUMC) www.cumc.columbia.edu are working on a project to incorporate genomic information into EHRs on thousands of CUMC patients.
The project is part of the “Electronic Medical Records and Genomics” Network (eMERGE) www.genome.gov/27540473 administered by the National Human Genome Research Institute www.genome.gov within NIH.
The primary goal of the eMERGE Network established in 2007 is to combine genetic data with EMR systems to gain new insights into the genetic basis of disease and to improve diagnosis, disease risk assessment, preventive strategies, and find possible treatment options for a broad range of conditions.
The researchers will tap into their database of DNA sequences from an ethnically diverse group of more than 3,000 CUMC patients and combine the data with the databases of 80,000 patients from other eMERGE institutions.
The team will look for new disease-causing variations in about 100 genes that have already been linked to a wide range of diseases, including cancer, cardiovascular disease, stroke, and kidney disease.
By combining information on a patient’s symptoms from their EHR with information on genetic variations, the researchers will be able to determine if the mutations are linked to symptoms of current or possibly entirely different diseases.
The researchers will look for both rare and common genetic variations, but the focus for the newest phase of eMERGE is on rare variants. By aggregating results among the different eMERGE sites, and by using sophisticated computational algorithms, it will be possible to reveal hard to detect associations between mutations and disease
The team will also add a clinical decision support system to the EHR that will automatically screen patients for potentially life threatening mutations and then send alerts and relevant educational materials to their physicians.