WASHINGTON — Leadership and coordination at the national level are needed to build on the strength of screening programs that test all newborn babies’ blood for serious health conditions and to ensure continued excellence in this vital public health service, says a new congressionally mandated report from the National Academies of Sciences, Engineering, and Medicine.    

Over 98% of the approximately 3.6 million infants born each year in the U.S. are tested through newborn screening programs. A few drops of blood, collected in the first days of life, are tested almost immediately for serious conditions that can and should be treated early — such as congenital hypothyroidism, cystic fibrosis, and sickle cell disease — to provide babies with the best chance of a healthy life. Each year, over 7,000 infants are identified for intervention by these programs, which also help connect families with health care providers to continue testing or treatment for their baby’s condition.  

Newborn screening is implemented by a network of 56 state and territorial run programs across the country. While they are supported federally — for example, the secretary of the U.S. Department of Health and Human Services recommends which conditions should be included in the standard newborn blood screening panel — each state screening program operates differently. The report says in some cases this variability allows programs to serve the needs of their individual communities flexibly, but in others, it leads to differences in resources and practices that negatively affect health outcomes and weaken newborn screening overall.  

The report finds newborn screening programs also face enduring and emerging challenges that need to be addressed. For example, as new screening technologies and disease treatments become available, programs can struggle to keep pace with opportunities to add new conditions to screening panels. In addition, the potential application of technologies such as genomic sequencing to analyze blood samples raises social and ethical questions, amid long-standing financial and workforce constraints.  

During recent years, some newborn screening programs have also confronted legal challenges over how stored blood samples may be retained or reused after screening is completed. Some cases have ended with the destruction of millions of specimens by court order.  

HHS should provide unified leadership, accountability, and coordination across government agencies and public health newborn screening programs, the report says. The agency should also pursue a 10-year strategic plan for the field to establish and address system priorities and enable continuous improvement.  

“We need coordination at the national level that can help unlock expertise and resources to benefit every baby born in the U.S. and keep pace with the incredible innovation happening in U.S. biomedical sciences,” said Jewel Mullen, chair of the committee that wrote the report, and associate dean for health equity and associate professor of population health and internal medicine at the University of Texas at Austin Dell Medical School.  

“Newborn screening has been a major win for hundreds of thousands of new families and for public health over the last half-century,” she said. “We need to make sure that these programs meet the goal of identifying conditions at birth that are serious, urgent, and treatable, and maintain public trust and advance scientific excellence in the years to come.”

New standards for blood spot retention and sharing

The report recommends state legislatures set laws and policies for how newborn blood samples and any data derived from them should be retained, shared, or used. These laws should protect the retention of dried blood spots for at least a limited period for purposes that are central to the functioning of these programs — for example, if a sample needs to be retested. Screening programs should make other retention or sharing practices transparent.

The report also says that parents should have the option to request the destruction of their child’s specimen after the minimum required retention time, and that children should be able to request their own sample be destroyed once they turn 18.  

Some states have allowed law enforcement to access dried blood spots, raising legal and trust concerns. State legislatures should prohibit sharing or use of these specimens to conduct criminal, civil, or administrative investigations, the report says.

Selecting conditions for screening panels

In 2010, HHS began providing guidance to states regarding which conditions should be included in newborn screening through the Recommended Uniform Screening Panel (RUSP). The report says the current process for adding a new condition to the standard panel is long and burdensome — taking an average of three to four years, not including the time it takes for states to make additions. It often falls to advocacy organizations to attract attention and research funding to a new screening opportunity.  

The report recommends HHS optimize this process, designating a committee to focus on RUSP guidance and to proactively assess which conditions may meet the criteria for inclusion. This committee should also highlight new research that would be needed to fill key evidence gaps for identified conditions.

Expanding public and professional awareness

Establishing trust with parents and communities is essential for the future success of these programs, the report says. It urges expanded education and awareness of newborn screening for the public, and says health care providers should engage future parents both before and after birth about the purpose of screening, when and how it happens, and their options.  

HHS should also form a new advisory body to ensure many perspectives are informing its national newborn screening efforts – such as directors of newborn screening programs, representatives of the rare disease community, and prenatal and birth care providers.  

Additional national coordination efforts should include:

• Creating a universal performance improvement system, including collecting data to help state/territorial programs assess their laboratory and follow-up performance, benchmark with peers, and improve over time.

• Amplifying newborn screening excellence by sharing resources — through surveying of state and territory program directors; identifying capacities, strengths, and specialized expertise; and establishing infrastructure for sharing these resources.

• Establishing a newborn screening research network that can expand and coordinate research in high-priority areas.

The committee that wrote the report began its study in 2024, and the report was finalized before recent structural and workforce changes within federal health agencies were reported. The report notes that descriptions of the roles and structures of federal and nonfederal activities relevant to newborn screening are current as of March 24, 2025.  

The National Academies of Sciences, Engineering, and Medicine are private, nonprofit institutions that provide independent, objective analysis and advice to the nation to solve complex problems and inform public policy decisions related to science, engineering, and medicine. They operate under an 1863 congressional charter to the National Academy of Sciences, signed by President Lincoln.

Contact:

Megan Lowry, Media Relations Manager
Office of News and Public Information
202-334-2138; email news@nas.edu