CTSA RC2 Program at University of Utah: A Translational Platform for Rapid Genomic Medicine

犹他大学 CTSA RC2 项目：快速基因组医学的转化平台

• 批准号: 10622189
• 负责人: PAUL ESTABROOKS
• 金额: $ 76.97万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-06-05 至 2028-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10622189
• 关键词: Acceleration; Adoption; Area; Clinical; Clinical Sciences; Complex; Computer software; Data; Diagnosis; Diagnostic; Dissemination and Implementation; Electronic Health Record; Emerging Technologies; Explosion; Faculty; Fostering; Foundations; Genetic; Genetic Variation; Genome; Genomic medicine; Genomics; Goals; Guidelines; Industry; Infrastructure; Intensive Care Units; Intuition; Investments; Laboratories; Life; Methods; National Center for Advancing Translational Sciences; Neonatal Intensive Care Units; Patient Care; Patients; Process; Recording of previous events; Research; Science; Technology; Translational Research; United States National Institutes of Health; Universities; Utah; Variant; Visualization; bioinformatics tool; clinical care; clinical implementation; clinical phenotype; design; diagnostic accuracy; diagnostic platform; diagnostic tool; dissemination science; electronic health information; electronic health record system; empowerment; genome sciences; genome sequencing; genomic data; genomic variation; implementation science; improved; innovation; interoperability; novel; open source; personalized care; point of care; portability; precision medicine; programs; rare mendelian disorder; success; tool; translational genomics; whole genome

SUMMARY While the past decade has seen an explosion in basic genomic research, the clinical implementation of genomic medicine remains elusive. This Specialized Innovation Program (SIP) will identify and overcome barriers that impede the translational science of rapid genomic medicine discoveries at the point of care by assembling the infrastructure, technology, and strategies to design and develop a rapid genomic diagnostic platform, using the newborn intensive care unit (NICU) as a laboratory. Emerging clinical guidelines support the value and utility of rapid whole-genome sequencing in the NICU, yet multiple barriers impede the widespread use of this technology at the point of care. Specifically, (1) less than half of rare Mendelian diseases are solvable using current sequencing and analytical technologies; (2) industry electronic health record (EHR)-based genomic medicine applications are essentially nonexistent, with a lack of EHR-interfaced platforms that allow for visualization and team-based interpretation of genomic sequencing; (3) translational science strategies to implement genomic medicine into clinical care are currently lacking. To overcome these barriers, the SIP will design and develop an innovative, collaborative, patient-focused, and EHR-interfaced translational platform that efficiently integrates rapid genomic medicine at the point of care, using the NICU as a laboratory. Aim 1 will design novel tools that will improve the discovery of all forms of genetic variation, including difficult-to-detect complex structural variants. These novel tools will be shared as open-source software, with accompanying tools for dissemination and implementation, to empower translational genomic science across the CTSA network. Aim 2 will deploy a portable EHR-interfaced platform for rapid genomic diagnostics that is appropriate, acceptable, and feasible across EHR systems and will catalyze clinical and translational science locally, regionally, and nationally. Aim 3 will use a participatory planning strategy and state of the science dissemination and implementation science methods to develop, tailor, and operationalize strategies to support NICU adoption, implementation, and sustainability of a translational platform for rapid genomic diagnostics. These strategies will be compiled into a generalizable blueprint to foster genomic innovations across the CTSA network and empower broader adoption and sustained implementation of genomic medicine.

概括 虽然在过去的十年里基础基因组研究出现了爆炸式增长，但临床实施 基因组医学仍然难以捉摸。该专业创新计划 (SIP) 将识别并克服 阻碍护理点快速基因组医学发现的转化科学的障碍 整合基础设施、技术和策略来设计和开发快速基因组诊断 平台，使用新生儿重症监护室（NICU）作为实验室。新兴临床指南支持 快速全基因组测序在 NICU 中的价值和实用性，但存在多重障碍 该技术在护理点广泛使用。具体来说，（1）不到一半的稀有孟德尔 使用当前的测序和分析技术可以解决疾病； (2)行业电子健康 基于 EHR 记录（EHR）的基因组医学应用基本上不存在，缺乏 EHR 接口 允许对基因组测序进行可视化和基于团队的解释的平台； (3)翻译 目前缺乏将基因组医学应用于临床护理的科学策略。为了克服这些 为了克服这些障碍，SIP 将设计和开发一个创新、协作、以患者为中心且与 EHR 接口的系统 转化平台，可在护理点有效整合快速基因组医学，使用 NICU 作为 一个实验室。目标 1 将设计新颖的工具来改进所有形式的遗传变异的发现， 包括难以检测的复杂结构变体。这些新颖的工具将作为开源共享 软件以及用于传播和实施的随附工具，以增强转化基因组的能力 CTSA 网络中的科学。 Aim 2 将部署一个便携式 EHR 接口平台，用于快速基因组分析 在 EHR 系统中适当、可接受且可行的诊断，并将促进临床和 地方、区域和国家的转化科学。目标 3 将采用参与式规划策略 科学传播和实施的现状 开发、定制和实施科学方法 支持新生儿重症监护病房 (NICU) 采用、实施和可持续性转化平台的战略，以快速实现 基因组诊断。这些策略将被编译成一个通用的蓝图，以促进基因组 CTSA 网络中的创新，并促进更广泛的采用和持续实施 基因组医学。