NIH-supported project expands genetic research into clinical setting

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Northwestern University Feinberg School of Medicine researchers have received a $762,000 grant from the National Institutes of Health (NIH) to tailor drug treatments to patients' genomic information. The grant, provided to members of the Electronic Medical Records and Genomics (eMERGE) network, is from the National Human Genome Research Institute (NHGRI), part of the NIH, which supports research by the network's seven institutions and coordinating center.

"This new eMERGE grant is an important step in connecting genomic information to high-quality data in electronic medical records during the clinical care of patients, and Northwestern is proud to be at the forefront of this initiative," says Rex L. Chisholm, vice dean of scientific affairs and graduate education, the Adam and Richard T. Lind Professor of Medical Genetics and a professor in cell and molecular biology at the Center for Genetic Medicine and Surgery at the Feinberg School. "The ultimate goal is to identify the genetic contributions to disease and equip health centers with the information and tools needed to apply genomic knowledge to patient care."

The grant enables investigators to identify genetic variants associated with 40 more disease characteristics and symptoms, using genome-wide association studies across the entire eMERGE network. DNA from about 32,000 participants will be analyzed in each study. Genome-wide association studies represent a powerful approach researchers can use to study hundreds of thousands of genetic variants in people with and without certain health conditions to identify genes that cause or contribute to diseases.

eMERGE researchers will then use the genomic information in clinical care. With patient consent, researchers may use information about genetic variants involved in drug response to adjust patient medications. In addition, eMERGE researchers who discover patients harboring genetic variants associated with diseases such as diabetes or cardiovascular disease will intervene to prevent, diagnose and/or treat such diseases.

The first phase of eMERGE, which wrapped up in July, demonstrated that data about disease characteristics in electronic medical records and patients' genetic information can be used in large genetic studies. So far, the eMERGE network has identified genetic variants associated with dementia, cataracts, high-density lipoprotein (HDL) cholesterol, peripheral arterial disease, white blood cell count, type 2 diabetes and cardiac conduction defects.

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