Electronic Health Records and Genomics

The question is whether information gathered so far can be of direct use to physicians in treating patients?

NHGRI’s Electronic Medical Records and Genomics (eMERGE) network will receive $25 million over the next four years to prove that the answer is yes. The network’s seven medical institutions and coordinating centers will use the funds to demonstrate that linking a patient’s genomic information to disease characteristics and symptoms in electronic medical records (EMR) can be used to improve their care.

“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,” Green said. “We can then equip health-care workers everywhere with the information and tools that they need to apply genomic knowledge to patient care.”

The first phase of eMERGE wrapped up in July and demonstrated that data about disease characteristics in EMRs and patient’s genetic information can be used in large genetic studies. To date, the network has identified genetic variants associated with dementia, cataracts, high-density lipoprotein cholesterol, peripheral arterial disease, white blood cell count, and type 2 diabetes.

In the next phase, investigators will identify genetic variants associated with 40 more disease characteristics using genome-wide association studies across the entire network. DNA from about 32,000 participants will be analyzed in each study. Researchers will then use that information for clinical care.

If the researchers find patients who have genetic variants associated with diseases such as diabetes or cardiovascular disease, they can act to prevent, diagnose, and, if necessary, treat the patients for those conditions.

The Cancer Genome Atlas

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