Purpose: State newborn screening programs are rapidly expanding with the inclusion of a large number of uncommon conditions. There remains significant uncertainty about many aspects of these conditions including their natural history, variability, treatment modalities being used, genotype-phenotype correlations, developmental outcomes, effect on families, and costs of care, among others. Data on these important outcome variables are not collected systematically through state programs. Recently, the American Academy of Pediatrics and the federal Health Resources and Services Administration have promoted the development of a data collection system on the long-term outcomes of children with conditions identified through newborn screening. This article provides an overview of the justification for such a system and recommendations for a design.
Methods: Recommendations were developed through a multidisciplinary collaboration of regional and national scholars supported through a Health Resources and Services Administration funded project.
Results: We propose a registry system with data inputs from subspecialists, the Medical Home, families, and schools. Further, the proposed system would utilize emerging communication technology to provide an interactive web-based system to support families and professionals in their care of children with these complex conditions.