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

总结 虽然在过去的十年中，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）将确定并克服 在护理点阻碍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，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。支持新兴临床指南 快速全基因组测序在NICU中的价值和实用性，但多重障碍阻碍了 这项技术在医疗领域的广泛应用。具体而言，（1）不到一半的罕见孟德尔 使用当前的测序和分析技术可以解决疾病;（2）工业电子健康 基于电子病历（EHR）的基因组医学应用基本上不存在，缺乏EHR接口 允许可视化和基于团队的基因组测序解释的平台;（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。克服这些 障碍，SIP将设计和开发一个创新的，协作的，以病人为中心的，EHR接口 翻译平台，有效地整合快速基因组医学在护理点，使用NICU作为 实验室目标1将设计新的工具，以改善对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，附带传播和实施工具，以增强翻译基因组 CTSA网络中的科学。Aim 2将部署一个便携式EHR接口平台， 诊断是适当的，可接受的和可行的EHR系统，并将促进临床和 地方、区域和国家的翻译科学。目标3将采用参与性规划战略， 科学传播和实施状况科学方法的开发、调整和实施 支持NICU采用，实施和可持续性的快速翻译平台的战略 基因诊断学这些策略将被汇编成一个可推广的蓝图，以促进基因组 CTSA网络的创新，并使更广泛的采用和持续实施 基因组医学

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.