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

解决新生儿重症监护室实施快速全基因组测序的研究与实践差距

• 批准号: 10721786
• 负责人: Sabrina Malone Jenkins
• 金额: $ 26.92万
• 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: 2023-09-01 至 2028-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10721786
• 关键词: Acceleration; Address; Adoption; Characteristics; Clinical; Consensus; Critical Care; Data; Development Plans; Diagnosis; Dissemination and Implementation; Ensure; Evidence based intervention; Family; Fostering; Funding; Future; Genomic medicine; Genomics; Goals; Guidelines; Health; Health Personnel; Human; Infrastructure; Institution; Intervention; K-Series Research Career Programs; Knowledge; Life; Logic; Maintenance; Mentors; Methodology; Modeling; Neonatal; Neonatal Intensive Care Units; Outcome; Patients; Perception; Physicians; Pilot Projects; Practical Robust Implementation and Sustainability Model; Provider; Reach, Effectiveness, Adoption, Implementation, and Maintenance; Recommendation; Research; Research Personnel; Resources; Role; Rural; Scientist; Specific qualifier value; Speed; Surveys; Techniques; Technology; Testing; Time; Training; Training and Education; Translational Research; career; career development; clinical application; clinical care; clinical implementation; clinical trial implementation; cognitive task; contextual factors; critically ill newborn; design; dissemination science; education resources; effectiveness/implementation hybrid; empowerment; evidence base; experience; genome sequencing; health care disparity; health care settings; implementation barriers; implementation research; implementation science; implementation strategy; improved; innovation; member; metropolitan; multidisciplinary; personalized medicine; precision medicine; programs; skills; standard of care; success; task analysis; tool; underserved area; uptake; usability; whole genome

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.

项目概要/摘要 目前的建议表明，快速全基因组测序应该成为治疗的标准 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的影响在农村更大。 存在医疗保健不平等的 3 级环境，实施基因组学的转化科学策略。 迫切需要将药物纳入临床护理，但目前缺乏这一建议的传播和推广。 实施科学项目，解决 4 级快速全基因组测序缺乏使用的问题 （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）新生儿强化 通过特定级别的逻辑模型概述特定障碍和促进因素、开发和 利用解决这些障碍的策略，并在小规模示范中测试这些策略 项目。 综合职业发展计划的总体目标是让候选人成为以下领域的专家： 传播和科学，提高个性化医疗的临床应用 新生儿重症监护机构将在具有良好记录的机构进行。 提供卓越的支持和强大的培训和教育资源。 致力于这位早期职业医师科学家的成功，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。职业发展目标重点。 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，将技术融入新生儿重症监护病房，这将有助于 更好的诊断和改善人类健康将由经验丰富的多学科人士监督。 确保候选人成功的指导团队。