In May 2012 Cincinnati Children's (CCHMC) joined eMERGE II with our Boston Children's partner. Since then we have developed algorithms for the electronic health record (EHR), led the Pediatric Workgroup, developed pharmacogenomics, evaluated the preferences of parents and caregivers to advance genomic medicine and assimilated technical advances into our EHR. The eMERGE effort has become the basic fabric of the institutional initiative to incorporate the extraordinary advances of genetics, genomics and the electronic medical record into healthcare. In addition, we bring a comprehensive EHR (EPIC), operating in every venue for healthcare delivery at CCHMC; a deidentified i2b2 data warehouse of 1.2 million patient records; and a Biobank with 150,000 consents that allow return of results to 38,000 patients and guardians who have provided 58,000 DNA samples, all with consent to return results and i2b2 EHR records. Now, we present our plan to join the eMERGE III network with 17 proposed initiatives. Our eMERGE effort is designed to move an entire institution with our eMERGE III partners into a genomic-EHR era of healthcare implementation and discovery. Our effort is divided into Genomics , Aim 1, where we hope to help the eMERGE III Steering Committee identify the 100 or so genes for the eMERGE III Targeted Gene Panel (eTGP), select our 2,000 CCHMC patients to be sequenced (of the 38,000 in our Biobank), review 4,000 targeted gene panels from clinical care at CCHMC for somatic mosaicism and reinterpretation, and further develop and disseminate a software workflow suite for sequence analysis (CASSI). For Phenotypes, Aim 2, we will extend our work generating EHR phenotype algorithms using heuristic and machine learning methods with a comprehensive set of EHR features derived from data driven algorithms to describe phenotypic pleiotropy of eTGP gene variants. We will develop working collaborations with Patients Care Outcomes Research Institute (PCORI) and the Million Veterans Program by applying eMERGE developed EHR algorithms to these large electronic data warehouses. For Implementation and Evaluation, Aim 3, we will develop tools to evaluate adolescent return of results preferences, examine the ethical and legal obligations and potential to reanalyze results, analyze the cost of tacrolimus management of kidney transplant with and without CYP3A5 testing, develop clinical decision support for phenotyping, test ordering, and returning eTGP results. Our success in these eMERGE III studies will be enhanced by the ongoing institutional investments made in the CCHMC BioBank, the comprehensive EHR (EPIC), and the i2b2 deidentified medical record data warehouse, and hundreds of Faculty and senior staff who make genomics or informatics an active focus of their research. We present a comprehensive program addressing all of the salient elements presented in the RFP for eMERGE III (HG-14-025) to enhance our collaborative productivity within the eMERGE Network in ways that ultimately improve our healthcare systems through discovery, implementation, and advanced applications of genomics and informatics.
The Cincinnati Children's Hospital Medical Center (CCHMC) proposes to contribute as a funded site in the eMERGE III Network by pursuing a series of initiatives designed to advance genomics and the electronic health record (EHR). We propose 100 genes to evaluate by sequencing in 2,000 patients consented for return of results, to advance genomics by evaluating fee for service for DNA sequence-based genetic testing at CCHMC, to develop the reliable identification many diseases in the EHR and along with genome wide genetic testing, to explore genetic variants for alleged and unknown clinical manifestations, to extend the work of eMERGE to other large collections of EHR and genetic data, to evaluate cost benefits of genetic testing, to characterize the genetics of pain, to explor the preferences of adolescents concerning the genetic results they prefer to learn, and to explore the legal, ethical, and social issues that surround the re-interpretation of genetic variants. All of this work will be pursued with our eMERGE III Network colleagues the goal of improving the quality of the health care we deliver.
Showing the most recent 10 out of 41 publications
