One of the most successful public health stories in U.S. history — the nation’s newborn screening program — was the subject of a recent reauthorization hearing held by the House Committee on Energy and Commerce.
Each year, just over 4 million babies are born in the United States. Virtually all of them have a heel pricked to draw a few drops of blood that are then analyzed to see if they have any of a number of serious, yet treatable, disorders. What makes this program so essential is that babies with these conditions usually look completely healthy at birth, so tests are needed to uncover their hidden diseases. This straightforward testing tells whether a baby needs immediate intervention to treat a disorder that would have otherwise gone undetected until the disease progressed to the point of disability — or death.
As a physician who has been directly involved with this program for many decades, I have seen firsthand how it affects the lives of families whose infants receive the treatments and support services they need from day one rather losing their child to an early death or having them develop lifelong disabilities.
Newborn screening in the United States dates back to the 1960s when a test for the metabolic disorder phenylketonuria (PKU) was introduced. This inherited disorder increases the levels of a substance called phenylalanine in the blood, which can cause intellectual disability, seizures, delayed development, and psychiatric disorders. A low-protein diet that limits phenylalanine intake can promote normal development. By 1965, 32 states had enacted screening laws for PKU; all states eventually began screening for it. As tests for other conditions were developed, states administered them as their individual capacities allowed.
Implementing newborn screening programs is up to each state, and there is significant variation in what different states test for. Over the past two decades, modest but vital federal funding and national efforts have resulted in greater uniformity, collaboration, and effectiveness of these programs. Federal activities ensure that each state has access to the information, expertise, and guidance to give all babies the same opportunity to be screened and treated.
In 2002, the federal government issued guidelines for states that recommended a list of 29 core conditions for which infants should be screened. This was the original Recommended Uniform Screening Panel, which is now maintained by the Department of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children. This committee, formed when the original Newborn Screening Saves Lives Act was signed into law in 2008, conducts rigorous evidence-based scientific review of applications for new disorders to be added to the Recommended Uniform Screening Panel.
Congress generally passes laws like the Newborn Screening Saves Lives Act with a limited timeline of authorization, in this case five years. This allows for reevaluation of the program so changes and improvements can be made on a semi-regular basis. Once the authorization expires, Congress must act to extend it for the program to continue.
Reauthorization of the national newborn screening program has long been a bipartisan priority. It is a private-public partnership, modest in cost (the current funding is about $30 million), focused, and extremely effective. Newborn screening is credited with saving or improving the lives of thousands of babies each year.
National programs, implemented in large part due to the Newborn Screening Saves Lives Act, help strengthen screening in every state. As the founding chair of the advisory committee, I can attest to its scientific rigor and efficient operation. Other indispensable federally funded programs include the CDC’s Newborn Screening Quality Assurance Program, which works directly with more than 500 state laboratories to implement new tests, conduct ongoing lab testing, and ensure test accuracy. The National Institutes of Health also plays a vital role through the Hunter Kelly Newborn Screening Research Program, which funds research that is essential for advancing the science of newborn screening, including the development of new testing technologies and supporting pilot programs to ensure that specific disorders are ready for nationwide screening.
Newborn screening is a complex effort that can continue to improve and thrive only if the federal-state partnership currently in place is allowed to continue. The achievements in newborn screening over the decades have been significant, and with the development of more treatments and cures for heritable disorders that will further save and improve children’s lives, Congress must act to reauthorize the Newborn Screening Saves Lives Act before it expires in September to ensure that this success continues.
R. Rodney Howell, M. D., is professor emeritus of pediatrics at the University of Miami’s Miller School of Medicine and chair emeritus and member emeritus of the school’s Hussman Institute for Human Genomics. He is also the president of the International Society of Neonatal Screening and chairs the board of directors of the Muscular Dystrophy Association.