An ad hoc committee of the National Academies of Sciences, Engineering, and Medicine will examine the current landscape of newborn screening (NBS) systems, processes, and research in the U.S. The committee will make recommendations for future improvements that help modernize NBS to be adaptable, flexible, coordinated, communicative, capable of efficient and sustainable adoption of screening for new conditions using new technologies, and a public health program from which all infants benefit.

The committee’s work will focus on the following tasks:

1) Examine state and federal capacities to strengthen current screening processes and implement screening for new conditions, including considerations for future conditions added to the Recommended Uniform Screening Panel (RUSP).

2) Review existing and emerging technologies that would permit screening for new categories of conditions and describe:

o how these new technologies may impact states;

o changes to public health infrastructure needed to incorporate new technologies while upholding and implementing the required components of NBS;

o options for incorporating new technologies to allow for screening of additional conditions;

o research, technological, and infrastructure needs to improve diagnosis, follow-up, and public health surveillance.

3) Review NBS data collection processes for tracking disease prevalence, improving health outcomes, conducting longitudinal follow-up, defining the natural history of conditions that can be screened for, and measuring quality of life.

4) Examine the RUSP review and recommendation processes, including the process of selecting new conditions that could be added to the RUSP; conducting review of the evidence to support adding new conditions; scaling up these review and recommendation processes to efficiently handle the review of potentially hundreds of conditions; and considering whether additional factors should be included in the analysis of harms and benefits (e.g., societal harms such as financial cost or opportunity costs, and family benefits such as avoiding the “diagnostic odyssey").

The committee’s final report will describe (a) short-term options that could be implemented at the state and/or federal level over the next 2-3 years to help strengthen existing NBS programs and address the current challenges facing state programs, and (b) a vision for the future of NBS and a roadmap for how to implement and achieve that vision over the next 5-15 years. The report will include options for how to implement longitudinal follow-up data collection to improve understanding of the impact of NBS on infant health outcomes (including morbidity and mortality, and quality of life for screen-positive infants). The committee will consider the resources required for implementation, such as changes to the current NBS system that will need to occur, the feasibility of implementing the future vision, and the challenges and barriers that may arise when trying to implement the roadmap.