Addressing the research-practice gap in the implementation of rapid whole genome sequencing in the NICU

项目摘要/摘要 目前的建议表明，快速全基因组测序应该是值得注意的标准 病危的新生儿。这些指南与采用全基因组测序之间的脱节 在新生儿重症监护病房，延误诊断和挽救生命的治疗。农村地区的影响更大。 存在医疗保健不平等的3级设置。实施基因组学的翻译科学策略 临床护理迫切需要药物，但目前缺乏。这项建议是一种传播和 4级缺乏快速全基因组测序的实施科学项目 (三级、大都市、资源丰富)和三级(非三级、农村、低资源)新生儿密集型 通过开发特定级别的逻辑模型来概述特定的障碍和促进者，开发和 利用解决这些障碍的策略，并在小规模演示中测试这些策略 项目。 综合职业发展计划的总体目标是使候选人做好准备，成为 传播和实施科学，提高个性化医疗在临床中的应用 新生儿重症监护设置。培训和研究将在一家有良好记录的机构进行 提供出色的支持以及强有力的培训和教育资源。候选人所在的部门是 致力于这位职业生涯早期的内科科学家的成功，提供受保护的研究时间、资源、 以及完成拟议的研究和培训目标所需的支持。职业发展目标聚焦 关于传播和实施科学所需的技能，为候选人提供必要的工具 作为一名独立调查员，将技术整合到新生儿重症监护病房，以帮助 更好的诊断和改善人类健康。这些目标将由经验丰富的多学科人员监督 确保应聘者成功的指导团队。

PROJECT SUMMARY/ABSTRACT Current recommendations indicate that rapid whole genome sequencing should be the standard of care for critically ill newborns. The disconnect between these guidelines and the adoption of whole genome sequencing in the neonatal intensive care unit delays diagnoses and life-saving therapies. The effects are greater in rural Level 3 settings where healthcare inequities exist. Translational science strategies to implement genomic medicine into clinical care are sorely needed, but currently lacking. This proposal is a dissemination and implementation science project addressing the lack of use of rapid whole genome sequencing in Level 4 (tertiary, metropolitan, higher resourced) and Level 3 (non-tertiary, rural, lower resourced) neonatal intensive care units by developing Level-specific logic models outlining specific barriers and facilitators, developing and leveraging strategies that address these barriers, and test these strategies in a small-scale demonstration project. The overall goal of the integrated career development plan is to prepare the candidate to become an expert in dissemination and implementation science and improve the clinical application of personalized medicine in neonatal critical care settings. The training and research will be conducted at an institution with a strong record of providing excellent support and robust training and educational resources. The candidate’s department is committed to the success of this early career physician-scientist, providing protected research time, resources, and support needed to complete the proposed research and training aims. The career development aims focus on needed skills in dissemination and implementation science providing the candidate with the necessary tools as an independent investigator to integrate technology into the neonatal intensive care unit that will aid in better diagnosis and improve human health. These aims will be overseen by an experienced multidisciplinary mentoring team who ensure the candidate’s success.