In an effort to better understand the genomic basis of disease and tailor medical care to individual patients, the National Institutes of Health has awarded a dozen grants supporting research that incorporates DNA sequence information into electronic health records.
Researchers from 12 institutions were awarded four-year grants by NIH’s National Human Genome Research Institute (NHGRI), as part of the third phase of the Electronic Medical Records and Genomics (eMERGE) program.
By identifying the potential medical effects of rare genomic variants in about 100 clinically-relevant genes, eMERGE is attempting to move genomics research closer to clinical application.
“The newly funded projects are focused on discovering genes and gene variants with clinical implications by using the latest sequencing technologies to examine rare and common variants suspected to relate to disease risk and treatment effects,” said Rongling Li, M.D., program director for eMERGE in the Division of Genomic Medicine at NHGRI. “The other important component of these grants is implementing what researchers learn about these gene variants into medical settings to improve patient care.”
At Brigham and Women’s Hospital in Boston, researchers will determine whether rare and common variants found in the protein-coding regions of 25,000 individuals’ genomes are associated with cardiovascular, neuropsychiatric and immune-mediated conditions described in EHRs.
Scientists at Cincinnati Children’s Hospital Medical Center in Ohio will evaluate the role of 100 genes in the genomes of 2,500 patients who agree to receive their test results, using this genomic information to help identify the causes of many diseases listed in patient EHRs.
Columbia University researchers will study a large multi-ethnic population in Northern Manhattan using genomic information from DNA sequencing and EHRs to find/evaluate genes and genetic variants that contribute to an increased risk for chronic kidney disease, heart failure, breast cancer, liver disease, autoimmune disease, stroke, birth defects and neurodevelopmental disorders.
Likewise, a research team at Geisinger Health System in Danville, Penn., will combine DNA sequence information and health information in thousands of patients’ EHRs to study two disorders: familial hypercholesterolemia and chronic rhinosinusitis.
In addition, researchers at the University of Washington’s Group Health Research Institute in Seattle will use DNA sequencing to examine the genetic make-up of 2,500 individuals and combine this information with EHRs, as well as study the effects of sharing such information with patients and families.
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