GenePAL: A Portable Approach to Longitudinal Genomic Healthcare for Infants

ABSTRACT/SUMMARY Rare diseases, many of which are genetic and present early in life, disproportionately contribute to pediatric morbidity, mortality, and healthcare spending. Early identification of a precise genetic diagnosis may lead to improved genetically-informed care across the lifespan. One mechanism by which early genetic diagnosis may lead to improved healthcare and health outcomes is through improved surveillance for and management of known complications of the condition. However, families face many barriers to recommended plans of care, including lack of care coordination and limited access to subspecialty services due to geographic or resource constraints. At the same time, community providers who facilitate the follow-through for these infants may have difficulty interpreting genetic testing results and determining appropriate management of these conditions. The end result is a failure to fully realize the benefits of early genetic diagnosis. We plan to address this problem via GenePAL (Portable Approach to Longitudinal Genomic Healthcare for Infants): a pilot study of a novel, web- based application (“Nest”) optimized for mobile devices to empower families to understand and obtain appropriate follow-up care via personalized healthcare plans. In Aim 1, will plan a mixed-methods approach that is informed by the Consolidated Framework for Implementation Research to refine, implement, and preliminarily evaluate Nest: we will conduct surveys and semi-structured interviews to identify priorities and vales of parents and healthcare providers, the results of which will be used to refine Nest. In Aim 2, we will implement Nest in a prospective cohort of infants diagnosed with rare genetic conditions, developing a genomic care plan for each infant. Finally, in Aim 3 we will evaluate Nest in terms of the key implementation outcomes of acceptability and appropriateness through semi-structured interviews with parents and providers who interacted with the care plans generated in Aim 2. The findings from this pilot study will inform broader implementation of Nest, toward the goal of improved health outcomes for infants, optimized management, and a fuller realization of the promise of early genetic diagnosis. The data generated from this study will also provide critical insight into the role of patient-facing clinical informatics tools for management of genomic diagnostic information in pediatric rare disease that will drive other future studies to improve implementation of genomic-empowered healthcare.