Long-Term Follow-Up for Newborn Screening: A Roadmap and Guide With Programmatic Considerations

Long-term follow-up (LTFU) systems for newborn screening (NBS) are essential for evaluating access to care, outcomes, and treatment barriers. Following screening, infants with confirmed diagnoses are followed by care providers, but local, state, and national systems to assess outcomes are lacking. The objectives were to create a roadmap outlining stages for LTFU program development to assist jurisdictions in establishing systems that best fit their goals and resources. The initial roadmap was developed with input from jurisdictions developing NBS LTFU systems. Listening sessions were conducted, including experts who have published on NBS LTFU, federal agency and national association personnel, state NBS program representatives, family advocacy group leaders, and health informatics specialists. Revisions to the LTFU Roadmap were made based on feedback from each session. Programmatic considerations and tools were developed around key questions. Suggested changes were tracked, and theme saturation was assessed. The resulting LTFU Roadmap outlines 4 LTFU stages: (1) Connection to Care, assessing child-clinical care system connectivity; (2) Appropriate Treatment and Care, evaluating the adequacy of medical follow-up; (3) Developmental Milestone and Disease Outcomes, focusing on developmental outcomes; and (4) Family Well-Being and Health Outcome, assessing child thriving and family support. Each phase includes metrics to monitor progress, with considerations for data collection and storage. An LTFU Roadmap Guide was developed to provide a structured set of steps to assist in the development of systems. The LTFU Roadmap aims to enable more uniform implementation across NBS programs, while allowing customization, ultimately facilitating quality and system improvements.