Feofanova Elena Valeryevna, Zhang Guo-Qiang, Lhatoo Samden, Metcalf Ginger A, Boerwinkle Eric, Venner Eric
Human 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.
Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, United States.
JMIR Res Protoc. 2021 Mar 26;10(3):e25576. doi: 10.2196/25576.
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 the standard of care. Epilepsy is an exemplary complex neurological disorder for which DNA diagnostics have shown to be advantageous for patient care.
We 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.
Building 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.
INSIGHT 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.
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.
INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/25576.
基因组医学有望改善对癫痫等常见复杂疾病的治疗，但要使其成为标准治疗的一部分，还需要更多临床信息学和实施科学研究。癫痫是一种典型的复杂神经系统疾病，DNA诊断已证明对患者护理有利。
我们设计了基因组健康转化实施科学（INSIGHT）研究，以利用诊所和检测实验室都能控制各自电子健康记录和临床报告平台的开发与定制这一事实。通过INSIGHT，我们可以快速制作将临床基因组学纳入患者护理的新方法的原型并进行基准测试。特别感兴趣的是利用临床基因组学领域知识且可根据临床医生反馈快速调整的临床决策支持工具。
基于先前开发的证据和基础设施组件，我们的模型包括以下内容：为患者护理建立一个随时可用于干预的基因组知识库，创建一个健康信息学平台并将其与临床基因组学报告系统相链接，以及按照既定的实施科学原则对INSIGHT进行扩展和评估。
INSIGHT于2020年5月15日获得休斯顿德克萨斯大学健康科学中心机构审查委员会的批准，设计为一项从2021年12月开始的为期2年的概念验证研究。按照设计，将招募来自德克萨斯综合癫痫项目的120名患者来测试INSIGHT工作流程。预计2023年上半年得出初步结果。
INSIGHT特定领域、实用但可推广的方法可能有助于催化一条途径，加速将基因组知识转化为对患者护理有影响力的干预措施。
国际注册报告识别码（IRRID）：PRR1-10.2196/25576
