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ImplementatioN ScIence for Genomic Health Translation (INSIGHT)

基因组健康翻译的实施科学 (INSIGHT)

基本信息

批准号：
10228385
负责人：
ERIC A. BOERWINKLE
金额：
$ 44.36万
依托单位：
UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-09-20 至 2023-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10228385
关键词：
Adult Adverse reactions Alzheimer&apos s Disease Antiepileptic Agents Area Atrial Fibrillation Cardiomyopathies Caring Childhood Clinical Complex Computerized Medical Record Cost of Illness Coupling DNA Decision Making Development Diagnosis Diagnostic Digestive System Disorders Disease Disease susceptibility Enrollment Epilepsy Etiology Evaluation Fast Healthcare Interoperability Resources Future Genes Genetic Genome Genomic medicine Genomics Goals Health Healthcare Healthcare Systems Heterogeneity Image Individual Infrastructure Intervention Kidney Diseases Knowledge Learning Link Malignant Neoplasms Modification Morbidity - disease rate Natural History Neptune Outcome Pathway interactions Patient Care Patients Pharmaceutical Preparations Pharmacogenomics Phase Phenotype Physicians Polypharmacy Prognosis Public Health Informatics Reporting Research Risk Speed Stroke Structure Susceptibility Gene System Systems Biology Testing Texas Therapeutic Translations United States Ursidae Family adverse drug reaction base clinical care clinical decision support clinical practice clinically relevant data integration data management early onset electronic data evidence base experience falls gene discovery genetic information genetic testing genetic variant genome sciences genomic data health data implementation science improved insertion/deletion mutation knowledge base mortality multidisciplinary nervous system disorder personalized care personalized intervention phenome population health precision medicine programs racial minority standard of care success support tools tool trait treatment response

项目摘要

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 generate preliminary results for a future R01 application for the “Advancing Genomic Medicine Research” program.

项目摘要尽管在基因发现和精确医学概念的提升方面取得了巨大进展，科学白话，如国家AllofUS倡议，翻译这一丰富的科学知识体系由于基因组学信息广泛应用于标准的病人护理，临床实践面临着管理速度的重大差距。这个项目的目标，基因组健康翻译的实施科学（INSIGHT），是建立一个可推广的范式指导的原则，实施科学的可扩展的基因检测，数据整合、结果解释和临床决策支持，以指导常见综合征的常规医疗保健疾病特征，如癫痫。癫痫是一种复杂的神经系统疾病，在基因发现已经发展到DNA诊断易于处理的程度的环境中，证据- 基础，有利于临床护理。鉴于我们的多学科小组在将基因组信息整合到临床环境中（如“HeartCare”项目）和开发健康数据管理平台（如癫痫专用定制电子病历[EMR]） - EpiToMe），我们将在先前建立的证据和基础设施的基础上，成功整合临床将基因组学应用于临床护理，并创建EMR工具，以帮助临床，基于基因组学的决策。首先，我们将识别和整合疾病易感性变异，药物基因药物基因组学对，并深入研究表型信息输入到一个干预准备基因组知识库（iRGK），用于癫痫患者护理作为一个可推广的范例。在这样做的时候，我们将建立一条途径，在患者护理中精确干预的背景下的知识。其次，我们将把iRGK纳入一个现有的EpiToMe，导致创建一个健康信息学平台（EpiToMe+）;我们将进一步链接现有的临床基因组学报告系统（Neptune）和EpiToMe+。将创建临床决策支持界面在EpiToMe+中实现精准医疗。两个系统的耦合将作为一个 INSIGHT范例适用于其他疾病领域。试点测试INSIGHT方法和 EpiToMe+接口，我们将招募来自德克萨斯州综合癫痫计划的120名患者，在种族和经济上是多样化的。我们相信，这种针对特定领域、实用但可推广的INSIGHT方法将有助于催化一种途径，加速将基因组知识转化为对患者护理有影响的干预措施。下降的条件在与癫痫相同的保护伞下的疾病包括但不限于心肌病、某些肾脏和消化系统疾病。疾病，以及家族性或早发性癌症的列表。完成这项R21研究还将使我们能够产生 R 01在“推进基因组医学研究”计划中的应用的初步结果。