Newborn Screening: Current Landscape and Future Directions

Consensus

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For over 60 years, public health newborn screening programs have served families in the United States by identifying babies at risk of serious but treatable conditions and connecting them to clinical care. Today, more than 98% of infants receive dried blood spot screening, which entails collecting a few drops of blood during the first days of life, applying them to a paper card, and sending the card to a lab to be tested for markers of specific health conditions like congenital hypothyroidism, cystic fibrosis, and sickle cell disease. The public health impacts of newborn screening are vast, with over 7,000 infants identified annually for timely interventions. Despite these achievements, challenges in implementing newborn screening programs persist.

In response to a congressional request, the Office on Women's Health of the U.S. Department of Health and Human Services asked the National Academies to convene an ad hoc committee of subject matter experts to examine the current landscape of newborn screening in the United States, recommend options to strengthen this public health service, and establish a vision for the future. Supplementary funding was provided by the Chan Zuckerberg Initiative to enable additional public engagement. The resulting report provides actionable recommendations for navigating the path ahead while preserving and enhancing what is already considered a valuable and effective public health achievement.

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Publication information

278 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-99216-8
ISBN Ebook: 0-309-99217-6
DOI: https://doi.org/10.17226/29102

Suggested citation

National Academies of Sciences, Engineering, and Medicine. 2025. Newborn Screening in the United States: A Vision for Sustaining and Advancing Excellence. Washington, DC: The National Academies Press.

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Policy Brief for U.S. Department of Health and Human Services (HHS)

This brief outlines report recommendations for a vision for greater national coordination, priority setting, and guidance spearheaded by HHS.

One Pager for Families and the Rare Disease Community

This guide outlines report recommendations on priority setting to guide strategic and responsive NBS research that informs timely, evidence-based decision-making.

Action Guide for NBS Programs

This guide outlines report recommendations on priority setting to guide strategic and responsive NBS research that informs timely, evidence-based decision-making.

Action Guide for Researchers

This guide outlines report recommendations on priority setting to guide strategic and responsive NBS research that informs timely, evidence-based decisionmaking.

Action Guide for Providers

This guide outlines report recommendations for health care providers to engage families by expanding newborn screening education and awareness.

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Newborn Screening: Current Landscape and Future Directions

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Policy Brief

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Newborn Screening: Current Landscape and Future Directions

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Featured publication

Newborn Screening in the United States: A Vision for Sustaining and Advancing Excellence

Policy Brief

Highlights

Educational Resource

Commissioned Paper

Background Material