Children's Hospital Joins Genetic Research Network


On December 10, 1962, in a speech given during the Nobel banquet, DNA pioneer James Watson said, “I feel that it is very important … to remember that science does not stand by itself, but is the creation of very human people.” By working in a “humane spirit,” Dr. Watson continued, “we shall help insure that our science continues and that our civilization will prevail.”

Nearly forty years after Dr. Watson delivered his remarks, The Children’s Hospital of Philadelphia Research Institute has joined a network of hospitals and research bodies working in such a spirit, combining their energies and expertise to translate genetic data into improved patient care.

The Center for Applied Genomics (CAG) was recently awarded roughly $2.5 million over three years to mine electronic medical record data for future clinical use as part of the ongoing Electronic Medical Records and Genomics (eMERGE) Network. Director of CAG Hakon Hakonarson, M.D., Ph.D., will act as the principle investigator of the project.

Funded and organized by the National Human Genome Research Institute (NHGRI), the eMERGE initiative is a consortium of U.S. medical institutions brought together to “develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record (EMR) systems, for large-scale, high-throughput genetic research,” according to NHGRI. Phase I of the consortium, which was first launched in 2007, ran through 2011.

The goal of the eMERGE network “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,” said NHGRI Director Eric D. Green, M.D., Ph.D. “We can then equip health care workers everywhere with the information and tools that they need to apply genomic knowledge to patient care.”

Now in its second phase, in addition to including an expanded number of institutions, a key goal of eMERGE Phase II is to explore ways to best incorporate genetic information into EMR data so it can be used in a clinical setting. CHOP is one of only three pediatric sites selected to take part in eMERGE Phase II, and one of only ten sites included overall. The eMERGE network is coordinated out of Vanderbilt University in Nashville, Tenn.

CAG inclusion in eMERGE is significant, as it currently has the largest pediatric biorepository — comprising over 40,000 children — and genome-wide association study (GWAS) genotyping facility in the world. Moreover, CAG’s biorepository includes a large minority population, and important detail because only modest numbers of African American patients have been conducted in GWAS to date.

Approximately 38 percent of the subjects in CAG’s biorepository are African American, 6 percent Hispanic, and 4 percent are Asian.
Dr. Hakonarson and his team plan to use these patients’ EMRs to mine “disease phenotypes and environmental exposure data in over 40 phenotypes” in order to establish a database for future clinical use. They will work to enable future sharing of genetic and genomic data with patients and, following that, establish guidelines for CAG’s biorepository and databases. In so doing Dr. Hakonarson hopes to generate informed consent procedures that will foster clinical use of genomic data in concert with other eMERGE members.

CAG also plans to use this data to determine pharmacogenetic response profiles, working to determine biomarkers to inform clinical care. While the initial eMERGE funding will largely support disease susceptibility studies, Dr. Hakonarson hopes to extend his group’s pharmacogenetic research through additional grants.

In addition to being selected to join eMERGE Phase II, CAG has taken on the role of pediatric leader in the network. The consortium is currently up and running, with members holding weekly teleconferences to discuss findings and strategies.

Overall, being a part of the eMERGE network will “elevate the important information that genomic information delivers,” Dr. Hakonarson said.