Newborn dried bloodspot screening: Long-term follow-up activities and information system requirements

Purpose: To describe the clinical and public health activities of all entities involved in long-term follow-up of children with conditions identified by newborn dried bloodspot screening, including the requirements for interoperable clinical and public health information systems that will support care from birth through adulthood. Methods: The Southeastern Newborn Screening Genetics Collaborative (Region 3) convened a workgroup of experts in pediatric care, genetics, and public health, facilitated by the Public Health Informatics Institute (the Institute). The Institute's Collaborative Requirements Development Methodology was used. Results: Three overlapping steps in the long-term follow-up process were examined: needs assessment, ongoing treatment/management, and knowledge generation. In addition, greater definition was given to the roles of Clinical Care Coordinator and Public Health Care Coordinator, as defined by a previous workgroup, and a new role was identified-Care Plan Leader (primary care provider or specialist) who would serve as treatment coordinator and centralize long-term follow-up care provision to minimize gaps in clinical care. Conclusion: The outcome of the Region 3 Workgroup's efforts is an expanded notion of long-term follow-up to extend throughout the patient's lifespan, with an emphasis on the coordination of care involving both clinical and public health sectors and on requirements for interoperable clinical and public health information systems. Genet Med 2010: 12(12):S261-S266.