An evaluation of U.S. federal investments in newborn screening: successes, gaps, and future directions

Introduction: Newborn screening (NBS) is a successful public health program conducted by states that provides screening, confirmatory testing, and access to treatments for millions of babies each year. Federal legislation has outlined activities to support the newborn screening system. This paper summarizes an evaluation of investments made by the Health Resources and Services Administration's (HRSA) within the U.S. Department of Health and Human Services in the newborn screening system. Methods: A total of 52 participants took part in either an interview or focus group. Participants represented a variety of NBS groups, including federal program grantees, state public health departments, healthcare providers, parents and patient advocacy representatives, newborn screening researchers, and subject matter experts. Data collection sessions were recorded and transcribed. A rapid turnaround analysis approach was used to code the qualitative data. Results: Participants provided feedback on the progress made by the newborn screening system as a result of HRSA's investments. Although there have been a number of successes, gaps remain. Additional support is needed in the areas of education, training, and technical assistance to enhance and expand screening capacity, conduct short- and long-term follow-up, and improve health equity and outcomes. Conclusion: Newborn screening has maintained a strong tradition as a successful public health program. Continued federal investments are needed to prepare the newborn screening system for systematic changes on the horizon.