What to Know About Newborn Screening and Rare Diseases

Newborn screening (NBS) is a program in the United States that tests all babies for certain treatable medical conditions. Early detection and treatment with NBS is critical for children with rare diseases.^1,2

NBS began in the United States in the 1960s. The test uses a small sample of blood taken from a newborn's heel.²

NBS programs test over 4 million babies per year. Over 1 in 300 babies are born with a condition that can be picked up by NBS. Early treatment helps around 15,000 children get the treatment they need to grow up healthy.^1,3,4

Why is newborn screening important?

Sometimes NBS is the only way to know whether a baby is born with certain serious diseases. This allows doctors to give life-saving treatments before symptoms develop.⁵

Babies with certain conditions may have no family history and appear healthy at birth. Without screening and early treatment, many conditions can cause brain damage, organ damage, or death.^1,5

Who decides what is included in newborn screening?

The United State Department of Health and Human Services (HHS) recommends what disorders to screen for in all newborns. This list is called the Recommended Uniform Screening Panel (RUSP). The RUSP includes 35 core conditions and 26 secondary conditions. Health plans are required to cover the cost of screening.⁶

Many more treatable conditions are not included on standard NBS panels. It is possible to test for and treat an increasing number of diseases. However, it can take states up to 10 years to add new tests to their NBS panel after the HHS recommends it.^4,7

Examples of conditions caught by NBS

The first condition tested for in the 1960s was phenylketonuria (PKU). Without treatment, this disease causes severe brain damage. But with early treatment, children can grow and develop normally.⁵

Spinal muscular atrophy (SMA) is another disorder detected by NBS. If left untreated, SMA causes muscle weakness and eventually death. The FDA approved gene therapy for SMA in 2018. This treatment works throughout the body to replace the gene that causes SMA with a new working gene. Getting this treatment early is key to improving a baby's chance of survival.^4,8

As of 2021, there are more than 100 new gene therapies like the one for SMA in late-stage clinical trials. Early detection and treatment are critical for children with rare genetic disorders. Expanding NBS to test newborns for more conditions will help children get the treatment they need before it is too late.⁴

Do all babies get newborn screening?

Unfortunately, NBS varies from state to state. Alabama screens for the fewest conditions at 31, while Connecticut screens for 74. To find out what conditions your state screens for, visit the Health Resources and Services Administration website.⁹

According to the National Organization for Rare Disorders 2018 State Report Card, half of US states do not meet federal recommendations for NBS. Children with potentially treatable conditions are missing out on early detection and treatment.^3,8,10

Newborn screening and research

Modern technology allows doctors to test for a wide variety of diseases using genomic screening. Genomic screening can find rare genetic disorders by looking for changes in a baby's genes.^11,12

Researchers at Columbia University are using genomic testing to expand NBS. The study is called GUARDIAN (Genomic Uniform-screening Against Rare Diseases in All Newborns). The researchers aim to test 100,000 newborns in New York City for 250 conditions that are not yet included in standard screening panels.^11,12

Study leads believe this study will improve the diagnosis and treatment of children with rare diseases. They also hope early diagnosis for all babies will help more children, no matter where they come from or how much money their parents make.^11,12

A 2023 survey of rare disease experts shows support for using genetic testing to expand NBS. This technology can detect many more disorders than standard tests. Advances in testing and treatment will help more children.⁷

How can we improve the national NBS program?

According to experts, the National NBS program could be improved by:⁴

• Improving the procedure to define which screening tests to include
• Funding rare disease research and screening
• Supporting communication between state and federal public health agencies

The Newborn Screening Saves Lives Act 2008 (NBSSLA) is the federal law that protects NBS. As of 2023, this protection is at risk. The NBSSLA expired in 2020 and has not been renewed. An updated bill called the Newborn Screening Saves Lives Reauthorization Act of 2021 was passed by the US House of Representatives in 2021. That bill remains in Senate committee as of June 2023.^2,4,13

To find out how you can help protect NBS, visit EveryLife Foundation’s Newborn Screening Action Center. Visit Baby’s First Test for more information about the national NBS program.^1,2