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eMERGE Network Looks at How to Provide DNA Test Results, Improve Care

Published on October 1, 2015 in Cornerstone Blog · Last updated 2 months 2 weeks ago


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Sometimes the tiniest shift inherited in your DNA code can have tremendous ripple effects on your health and treatment choices. A new $3.6 million grant from the National Institutes of Health’s Electronic Medical Records and Genomics (eMERGE) program will allow scientists at The Children’s Hospital of Philadelphia to not only uncover the genetic causes of autism and other pediatric conditions, but also to see how this information extends beyond the lab into patients’ electronic health records and improves care. “

We have established the largest pediatric biobank in the world, and by coupling the genotyping and sequencing data we have produced from these samples with medical information from the electronic health records from CHOP and other eMERGE sites, we have the ability to identify the most effective therapies for our patients as we move forward in the era of precision medicine,” said principal investigator Hakon Hakonarson, MD, PhD, director of CHOP’s Center for Applied Genomics.

The National Human Genome Research Institute (NHGRI) announced the awards to CHOP and 11 other research centers in the eMERGE network in a press release. CHOP is one of only two pediatric sites in the network and has led and published numerous studies from earlier stages of the program. Now entering its third phase, eMERGE will concentrate on moving genomics research closer to clinical application.

For example, the CHOP investigators will use DNA sequencing data stored in the Hospital’s biorepository to characterize rare variants in 2,500 children with autism, intellectual disability, attention deficit-hyperactivity disorder, epilepsy and obesity. They will return information to about 160 patients and their families and evaluate how knowledge of their genetic makeup affects their testing and treatment decisions. The research team also will consider the potential financial, ethical and social reverberations of these genotyping activities.

“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. “The other important component of these grants is implementing what researchers learn about these gene variants into medical settings to improve patient care.”

To see the NIH announcement of these awards, click here.