JMIR Publications

ABSTRACT

Genomic Medicine is likely to improve care for common complex disease traits, such as epilepsy, but additional data collection and implementation studies are needed to clearly establish its utility. To do so, we are launching the ImplementatioN ScIence for Genomic Health Translation (INSIGHT) study. In this study, we will take advantage of the unique opportunity afforded by the fact that both the clinic and testing laboratory have complete control over the development of their in-house electronic health records and clinical reporting platforms. We will rapidly prototype and benchmark novel approaches to delivering clinical genomics into clinical care. In addition, we will use these platforms to develop clinical decision support to guide routine health care for epilepsy. Epilepsy presents in various clinical settings as a complex neuro-exemplar disease and DNA diagnostics have been found to be advantageous for clinical care. Using epilepsy as a generalizable paradigm, we will build on previously-developed evidence and infrastructure to: 1. Establish an intervention-ready genomic knowledgebase for patient care; 2. Create a health informatics platform and link it to a clinical genomics reporting system; 3. Evaluate and streamline this system using implementation science tools.