The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System.
The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System.
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DOI：
10.2196/25576
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发表时间：
2021-03-26
影响因子：
1.7
通讯作者：
Venner E
中科院分区：
文献类型：
--
作者：
Feofanova EV;Zhang GQ;Lhatoo S;Metcalf GA;Boerwinkle E;Venner E
基因组医学有望改善对癫痫等常见复杂疾病的护理，但需要更多的临床信息学和实施科学研究，才能使其成为护理标准的一部分。癫痫是一种典型的复杂神经疾病，DNA诊断已表明对患者护理有利。我们设计了基因组健康翻译实施科学(Insight)研究，以利用这样一个事实，即诊所和测试实验室都控制着各自电子健康记录和临床报告平台的开发和定制。通过洞察，我们可以快速原型和基准新的方法，将临床基因组学纳入患者护理。尤其令人感兴趣的是临床决策支持工具，它们利用了临床基因组学的领域知识，并可以根据临床医生的反馈进行快速调整。我们的模型建立在先前开发的证据和基础设施组件的基础上，包括以下内容：为患者护理建立一个可供干预的基因组知识库；创建一个健康信息学平台并将其链接到临床基因组学报告系统；以及根据既定的实施科学原则扩展和评估洞察力。Insight于2020年5月15日在休斯顿的德克萨斯大学健康科学中心获得机构审查委员会的批准，从2021年12月开始，作为一项为期2年的概念验证研究。根据设计，德克萨斯综合癫痫计划的120名患者将被招募来测试Insight工作流程。初步结果预计将在2023年上半年。Insight的领域特定、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患者护理中有效的干预措施。PRR1-10.2196/25576
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. PRR1-10.2196/25576