The Epilepsy Phenome/Genome Project (EPGP) informatics platform

BACKGROUND The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, multi-institutional, collaborative network of 27 epilepsy centers throughout the U.S., Australia, and Argentina, with the objective of collecting detailed phenotypic and genetic data on a large number of epilepsy participants. The goals of EPGP are (1) to perform detailed phenotyping on 3750 participants with specific forms of non-acquired epilepsy and 1500 parents without epilepsy, (2) to obtain DNA samples on these individuals, and (3) to ultimately genotype the samples in order to discover novel genes that cause epilepsy. To carry out the project, a reliable and robust informatics platform was needed for standardized electronic data collection and storage, data quality review, and phenotypic analysis involving cases from multiple sites. METHODS EPGP developed its own suite of web-based informatics applications for participant tracking, electronic data collection (using electronic case report forms/surveys), data management, phenotypic data review and validation, specimen tracking, electroencephalograph and neuroimaging storage, and issue tracking. We implemented procedures to train and support end-users at each clinical site. RESULTS Thus far, 3780 study participants have been enrolled and 20,957 web-based study activities have been completed using this informatics platform. Over 95% of respondents to an end-user satisfaction survey felt that the informatics platform was successful almost always or most of the time. CONCLUSIONS The EPGP informatics platform has successfully and effectively allowed study management and efficient and reliable collection of phenotypic data. Our novel informatics platform met the requirements of a large, multicenter research project. The platform has had a high level of end-user acceptance by principal investigators and study coordinators, and can serve as a model for new tools to support future large scale, collaborative research projects collecting extensive phenotypic data.

[1]  James E Lingeman,et al.  Internet based multi-institutional clinical research: a convenient and secure option. , 2004, The Journal of urology.

[2]  Oleg S. Pianykh,et al.  Digital Imaging and Communications in Medicine (DICOM) , 2017, Radiopaedia.org.

[3]  A. Meyer.  The Health Insurance Portability and Accountability Act. , 1997, Tennessee medicine : journal of the Tennessee Medical Association.

[4]  Li Li,et al.  A web-based system for managing and co-ordinating multiple multisite studies , 2005, Clinical trials.

[5]  Zhengwu Lu,et al.  Clinical data management: Current status, challenges, and future directions from industry perspectives , 2010 .

[6]  D. Falconer,et al.  Why Executives Don't Respond To Your Survey , 1999 .

[7]  William J. Doll,et al.  The Measurement of End-User Computing Satisfaction , 1988, MIS Q..

[8]  Khaled El Emam,et al.  The Use of Electronic Data Capture Tools in Clinical Trials: Web-Survey of 259 Canadian Trials , 2009, Journal of medical Internet research.

[9]  S. Ruberg,et al.  Paradigm shifts in clinical trials enabled by information technology , 2001, Statistics in medicine.

[10]  Philip R. O. Payne,et al.  Clinical research informatics: challenges, opportunities and definition for an emerging domain. , 2009, Journal of the American Medical Informatics Association : JAMIA.

[11]  P. Harris,et al.  Research electronic data capture (REDCap) - A metadata-driven methodology and workflow process for providing translational research informatics support , 2009, J. Biomed. Informatics.

[12]  James F. Brinkley,et al.  A partnership approach for Electronic Data Capture in small-scale clinical trials , 2011, J. Biomed. Informatics.

[13]  Damijan Miklavcic,et al.  Comparison of paper-based and electronic data collection process in clinical trials: costs simulation study. , 2009, Contemporary clinical trials.