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Cincinnati Children’s Using NIH Grant to Study Genomic Basis of Disease, Tailored Care

Thursday, September 10, 2015

Cincinnati Children’s Hospital Medical Center is among a group of medical research institutions awarded $52.4 million by the National Institutes of Health (NIH) over the next four years to identify the potential medical effects of rare genomic variants in about 100 clinically relevant genes.

Led by principal investigator John Harley, MD, PhD, director of the Center for Autoimmune Genomics & Etiology at Cincinnati Children’s, the medical center will receive $3.4 million over four years to evaluate the role of 100 genes in the genomes of 2,500 patients who agree to receive their test results.

Investigators will use this genomic information to help identify the causes of many diseases listed in patient electronic health records. Along with genome-wide testing, they will explore the roles of variants in a number of medical conditions and disorders. The wide-ranging studies also will include evaluating the cost-effectiveness of genetic testing, characterizing the genetics of pain and exploring what genetic test results adolescents want to receive.

The NIH is supporting research that incorporates DNA sequence information into electronic medical records. The goal of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual patients based on their genomic differences.

The grants are administered by the National Human Genome Research Institute (NHGRI) and represent the third phase of the eMERGE program. They focus on moving genomics research closer to clinical application by identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) in about 100 clinically relevant genes. The activity of such genes can affect a person's health, and might affect treatment choices.

"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, MD, PhD, program director for eMERGE in the Division of Genomic Medicine at NHGRI, a part of NIH. "The other important component of these grants is implementing what researchers learn about these gene variants into medical settings to improve patient care."

Researchers will look at the best ways to provide DNA test results to physicians and patients and how doctors might use this information to improve clinical treatment and practice, Li said. These funded researchers will also examine the psychological and economic effects on patients and families, and the effects on healthcare systems, in using this information.

Also receiving NIH project grants are Vanderbilt University School of Medicine, Brigham and Women's Hospital, the Baylor College of Medicine, the Group Health Research Institute at the University of Washington, Geisinger Health System in Danville, Penn., the Mayo Clinic, Columbia University, Children’s Hospital of Philadelphia and Northwestern University.

About Cincinnati Children’s
Cincinnati Children’s Hospital Medical Center ranks third in the nation among all Honor Roll hospitals in U.S.News and World Report’s 2015 Best Children’s Hospitals. It is also ranked in the top 10 for all 10 pediatric specialties, including a  #1 ranking in pulmonology and #2 in cancer and in nephrology. Cincinnati Children’s, a non-profit organization, is one of the top three recipients of pediatric research grants from the National Institutes of Health, and a research and teaching affiliate of the University of Cincinnati’s College of Medicine.  The medical center is internationally recognized for improving child health and transforming delivery of care through fully integrated, globally recognized research, education and innovation. Additional information can be found at www.cincinnatichildrens.org. Connect on the Cincinnati Children’s blog, via Facebook and on Twitter .