EMRs and the Human Genome

Did you know that the National Institutes of Health’s National Human Genome Research Institute (NHGRI) is now funding grants to study how genomic information can be used along with electronic medical records?  The idea is to make it possible to have an impact on patients’ healthcare outcomes by integrating genome data with what health conditions and symptoms they have — all within the next four years.

“Our goal is to connect genomic information to high quality data in electronic medical records during the clinical care of patients. This will help us identify the genetic contributions to disease,” said NHGRI director Eric Green in a press release. “We can then equip health care workers everywhere with the information and tools that they need to apply genomic knowledge to patient care.”

So far, a pilot experiment to provide proof of principal for the research program (called eMERGE), showed that it is possible to link genetic information with complex disease states or conditions such as dementia, cataracts, high-density lipoprotein (HDL) cholesterol, peripheral arterial disease, white blood cell count, type 2 diabetes and heart conduction defects.

The investigators will now attempt to link genetic variations with more disease characteristics and symptoms, using genome-wide association studies (i.e. GWAS) across the entire eMERGE network.  Around 32,000 patients will be involved, and the ultimate goal would be to use the information found by linking genomic and EHR data to provide guidance for interventions such as adjusting patient medications or scheduling procedures that may ultimately help patients receive better care.  Imagine developing best practices for genetic disorders, all courtesy of your friendly neighborhood EMR/EHR!

Dr. West is an endocrinologist in private practice in Washington, DC.  He completed fellowship training in Endocrinology and Metabolism at the Johns Hopkins University School of Medicine. Dr. West opened The Washington Endocrine Clinic, PLLC, as a solo practice in 2009.  He can be reached at doctorwestindc@gmail.com.