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

项目概要/摘要 目前的建议表明，快速全基因组测序应该是标准的护理， 危重新生儿这些指导方针和全基因组测序的采用之间的脱节 在新生儿重症监护室中，延误了诊断和挽救生命的治疗。影响在农村更大 3、存在医疗保健不公平的地方。实施基因组学的转化科学策略 临床护理非常需要，但目前缺乏。这一建议是一种传播和 实施科学项目，解决4级缺乏快速全基因组测序的问题 （高等教育、大都市、资源较高）和3级（非高等教育、农村、资源较低）新生儿密集型 通过开发特定级别的逻辑模型，概述特定的障碍和促进因素， 利用解决这些障碍的战略，并在小规模示范中测试这些战略 项目 综合职业发展计划的总体目标是使候选人成为以下方面的专家： 传播和实施科学，提高个性化医疗的临床应用 新生儿重症监护机构。培训和研究将在一个记录良好的机构进行 提供良好的支持和强大的培训和教育资源。候选人的部门是 致力于这一早期职业医生科学家的成功，提供受保护的研究时间，资源， 完成拟议的研究和培训目标所需的资源和支助。职业发展目标聚焦 传播和实施科学方面所需的技能，为候选人提供必要的工具 作为一名独立的调查员，将技术整合到新生儿重症监护病房， 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专家监督。 确保候选人成功的辅导团队。

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.