Over 30 million Americans live with one or more rare diseases, most of whom experience a prolonged diagnostic odyssey. Newborn screening helps shorten the journey.
According to the National Economic Burden of Rare Disease Study, obtaining a confirmed rare disease diagnosis takes an average of 6.3 years, 16.9 specialist visits, and 2.4 out-of-state trips. Newborn screening is a vital public health program that ensures all babies are screened for serious conditions within the first 24-48 hours of life, allowing for life-saving care at the earliest opportunity. For over 50 years, a simple heel prick has enabled a newborn’s blood test that detects for disorders that, if left untreated, cause debilitating illness or death, making early diagnosis critical for timely treatment and optimized health outcomes.
The benefits of newborn screening
Newborn screening programs test every newborn for genetic, metabolic, hormonal, and functional conditions that are not otherwise apparent at birth. In addition to sample collection and testing, these programs also consist of educational materials for parents, training for healthcare professionals, and referrals to timely follow-up clinical care and services.
Each year, approximately 4 million newborns are screened in the United States and about 12,000 infants (1 in 300) are identified to have a potentially devastating condition, benefiting from early detection and the delivery of life-saving treatments. In addition to the life-altering benefit of newborn screening, a timely diagnosis also provides an economic benefit for patients and the healthcare system more broadly.
One study calculated the avoidable costs associated with providing a timely diagnosis at birth as opposed to a delayed diagnosis for three newborn screening conditions. The conditions studied — X-ALD, Pompe Disease, and SCID — showed savings of $301,647; $168,718; and $517,638 in avoidable costs respectively when a timely diagnosis at birth was provided. Newborn screening leads to better outcomes for families and the healthcare system, which is why it is often referred to as one of the most successful public health programs in the country.
Improving the system
Tragically, however, our nation’s current newborn screening system is unsustainable, and our babies are at risk. The federal law that supports the national newborn screening program expired two years ago. Additionally, there are life-altering discrepancies between which conditions are screened for in each state. Once a disease or condition meets a rigorous evidentiary federal review panel’s approval, it is added to the federal Recommended Uniform Screening Panel (RUSP). Each individual state maintains a detailed process to assess whether and when a condition will be implemented in each respective state.
Currently, 33 states do not screen for all the federally recommended conditions, leaving hundreds of babies undetected and without timely treatment each year. Newborn screening programs are in critical need of funding and resources. Limitations to the current system yield significant delays between the availability of a treatment and the implementation of screening, putting infants and children at risk for preventable mortality and disability.
Fighting for the future
The EveryLife Foundation for Rare Diseases (EveryLife) is leading the fight to ensure that the newborn screening program in this country, as well as in individual states, is prioritized so that families receive timely diagnoses and early interventions. To that end, EveryLife has led state-level efforts to ensure that babies born in every state have the same opportunity for timely diagnosis and treatment. These laws require states to screen newborn babies for any disorder on the federal Recommended Uniform Screening Panel (RUSP), implement a timeline in which the screening must begin, and ensure that resources will be available to fund all conditions added to the RUSP in the future.
Twelve states have adopted RUSP alignment legislation, including California in 2016; Florida in 2017; Arizona, Georgia, North Carolina, and Ohio in 2021; Iowa, Pennsylvania, Mississippi, and Maryland in 2022; Texas in 2023; and Tennessee in 2024. This life-saving momentum has been a result of a growing effort by advocates urging states to keep pace with science.To learn more about newborn screening and our efforts, visit the EveryLife Foundation for Rare Diseases Newborn Screening Action Center.
