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

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.