JMIR Publications

ABSTRACT

Background:

Genomic Medicine is poised to improve care for common complex diseases such as epilepsy, but additional clinical informatics and implementation science research is needed for it to become a part of standard of care. Epilepsy is an exemplar complex neurological disorder for which DNA diagnostics have shown to be advantageous for patient care.

Objective:

We designed the ImplementatioN ScIence for Genomic Health Translation (INSIGHT) study to leverage the fact that both the clinic and testing laboratory control development and customization of their respective electronic health records and clinical reporting platforms. Through INSIGHT, we can rapidly prototype and benchmark novel approaches to incorporating clinical genomics into patient care. Of particular interest are clinical decision support tools that take advantage of domain knowledge from clinical genomics and can be rapidly adjusted based on feedback from clinicians.

Methods:

Building on previously developed evidence and infrastructure components, our model includes: establishment of an intervention-ready genomic knowledgebase for patient care; creation of a health informatics platform and linking it to a clinical genomics reporting system; and scaling and evaluation of INSIGHT following established implementation science principles.

Results:

INSIGHT has been approved by Institutional Review Board on 05.15.2020, and is designed as a 2-year proof-of-concept study beginning December 2021. By design, 120 patients from the Texas Comprehensive Epilepsy Program are to be enrolled to test the INSIGHT workflow. Initial results are expected in the first half of 2023.

Conclusions:

INSIGHT’s domain-specific, practical but generalizable approach may help catalyze a pathway to accelerate translation of genomic knowledge into impactful interventions in patient care.