NIH pumping $25M to link EMR info to genetic data

As the U.S. rapidly adopts electronic medical records (EMRs) with an eye toward improving patient care, researchers are already studying how genomic information on patients and rich data on diseases in the digital records could deliver further benefits. Now the NIH's National Human Genome Research Institute (NHGRI) is committed to providing $25 million for researchers to propel these efforts over the next four years.

The funding will go to 7 institutions that are part of the Electronic Medical Records for Genomics (eMERGE) network, which completed a pilot phase in July, showing that data on diseases in patients' electronic records and genomic studies were useful in genetic research. The consortium's previous efforts have turned up genetic variants of dementia, type 2 diabetes, cardiac conduction defects and several other conditions. And some eMERGE researchers at Northwestern University, for example, reported in April that mining EMR systems for such data as diagnoses, lab tests and medications enabled them to pinpoint a patients' disease with 73% to 98% accuracy.

The next stage of the effort involves finding genetic variants linked with 40 additional diseases and conditions. Plans are to analyze the DNA of 32,000 people in each study, enabling researchers to inspect hundreds of thousands of variants to find potential genetic causes of certain illnesses. With such genetic data at their fingertips, clinicians can swiftly take action in treating a patient for a particular ailment. This would be much different than reacting to a patient's complaint about certain symptoms of an ailment in a doctor's office.

"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," Dr. Eric Green, director of the NHGRI, said. "We can then equip healthcare workers everywhere with the information and tools that they need to apply genomic knowledge to patient care."

- here's the NHGRI's release
- see the coverage in Bio-IT World

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