Evidence map›Paper›PMID 33769305›Full record

ArticleJMIR research protocols2021

The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System.

Elena Valeryevna Feofanova, Guo-Qiang Zhang, Samden Lhatoo, Ginger A Metcalf, Eric Boerwinkle, Eric Venner

Abstract read
In one paragraph

Article in JMIR research protocols, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. medRxiv : the preprint server for health sciences · 2025
    Article
  3. Article
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Elena Valeryevna FeofanovaHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, United States.ORCID https://orcid.org/0000-0003-1428-7199
Guo-Qiang ZhangDepartment of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, United States.ORCID https://orcid.org/0000-0002-3663-1109
Samden LhatooDepartment of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, United States.ORCID https://orcid.org/0000-0002-0260-3855
Ginger A MetcalfHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, United States.ORCID https://orcid.org/0000-0002-8316-0071
Eric BoerwinkleHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, United States.ORCID https://orcid.org/0000-0001-8813-0544
Eric VennerHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, United States.ORCID https://orcid.org/0000-0002-3319-6690

Funding

ImplementatioN ScIence for Genomic Health Translation (INSIGHT)R21HG011803 · NHGRI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A., LHATOO, SAMDEN · 2021 to 2021
$444k
NHGRI NIH HHS R21 HG011803
6 · The paper itself

Abstract

backgroundGenomic 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 the standard of care. Epilepsy is an exemplary complex neurological disorder for which DNA diagnostics have shown to be advantageous for patient care.

objectiveWe designed the Implementation Science for Genomic Health Translation (INSIGHT) study to leverage the fact that both the clinic and testing laboratory control the 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.

methodsBuilding on previously developed evidence and infrastructure components, our model includes the following: establishment of an intervention-ready genomic knowledge base 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.

resultsINSIGHT was approved by the Institutional Review Board at the University of Texas Health Science Center at Houston on May 15, 2020, and is designed as a 2-year proof-of-concept study beginning in 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.

conclusionsINSIGHT's domain-specific, practical but generalizable approach may help catalyze a pathway to accelerate translation of genomic knowledge into impactful interventions in patient care. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/25576.

Indexed as

decision supportelectronic health recordgeneticsgenomic medicineimplementationprototype

Identifiers

PMID33769305
PMCPMC8088873

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.