# ImplementatioN ScIence for Genomic Health Translation (INSIGHT)

> **NIH NIH R21** · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · 2021 · $443,629

## Abstract

PROJECT SUMMARY
Despite enormous progresses in gene discovery and elevation of the concept of precision medicine into the
scientific vernacular, such as the national AllofUS initiative, translation of this rich body of scientific knowledge
into standard patient care has been slow, with broad implementation of genomics information into standard
clinical practice facing a significant gap in management velocity.
The goal of this project, ImplementatioN ScIence for Genomic Health Translation (INSIGHT), is to establish a
generalizable paradigm guided by the principles of implementation science for scalable genetic testing, data
integration, results interpretation and clinical decision support to guide routine health care for common complex
disease traits, such as epilepsy. Epilepsy is a complex neuro-exemplar disease presenting in various clinical
settings, in which genetic discovery has progressed to a point where DNA diagnostics is tractable, evidence-
based, and advantageous for clinical care. Given the track-record of success of our multidisciplinary group in
both integration of genomic information into clinical settings (such as the “HeartCare” project) and development
of health data management platforms (such as an epilepsy-specific bespoke Electronic Medical Records [EMR]
- EpiToMe), we will build on evidence and infrastructure established previously, to successfully integrate clinical
genomics into clinical care, as well as create EMR tools that aid clinical, genomics based decision-making.
First, we will identify and integrate disease susceptibility variants, drug-gene pharmacogenomics pairs, and deep
phenotypic information into an intervention-ready genomic knowledgebase (iRGK) for patient care using epilepsy
as a generalizable paradigm. In doing so, we will establish a pathway to place this body of translational
knowledge in the context of precision intervention in patient care. Second, we will incorporate iRGK into an
existing EpiToMe, resulting in creation of a health informatics platform (EpiToMe+); we will further link an existing
clinical genomics reporting system (Neptune) and EpiToMe+. Clinical decision support interfaces will be created
in EpiToMe+ to enable the practice of precision medicine. The coupling of the two systems will serve as an
exemplar INSIGHT paradigm applicable to other disease areas. To pilot test the INSIGHT approach and the
EpiToMe+ interfaces, we will enroll 120 patients drawn from the Texas Comprehensive Epilepsy Program, which
is ethnically and economically diverse.
We believe that this domain-specific, practical but generalizable INSIGHT approach will help catalyze a pathway
to accelerate translation of genomic knowledge into impactful interventions in patient care. Conditions that fall
under the same umbrella as epilepsy include but are not limited to cardiomyopathies, certain kidney and digestive
disorders, and a list of familial or early onset cancers. Accomplishing this R21 study will also allow us to gen...

## Key facts

- **NIH application ID:** 10228385
- **Project number:** 1R21HG011803-01
- **Recipient organization:** UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON
- **Principal Investigator:** ERIC A. BOERWINKLE
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $443,629
- **Award type:** 1
- **Project period:** 2021-09-20 → 2023-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10228385

## Citation

> US National Institutes of Health, RePORTER application 10228385, ImplementatioN ScIence for Genomic Health Translation (INSIGHT) (1R21HG011803-01). Retrieved via AI Analytics 2026-06-10 from https://api.ai-analytics.org/grant/nih/10228385. Licensed CC0.

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