For caregivers and those living with an inherited metabolic condition, newborn screening plays a pivotal role in our journeys. For some, it was a lifesaving test that made immediate treatment possible. For others, its limitations became a powerful call to action, driving us to advocate for better screenings to help future generations.
Newborn screening has had an undeniable impact on countless lives, evolving into one of the most successful public health measures in the U.S. Since its inception, it has identified more than 12,000 babies annually with serious conditions, allowing for early diagnosis and treatment. This early treatment often prevents severe developmental disabilities and even death. While newborn screening has saved and improved many lives, advancements are still needed to ensure all children receive the timely care they need.
History
In the early 1960s, Dr. Robert Guthrie developed a simple blood test to detect phenylketonuria (PKU) in newborns, preventing irreversible brain damage. His groundbreaking discovery raised questions about what other genetic conditions could be detected at birth, and sparked research and creation of the modern newborn screening system we rely on today. Dr. Guthrie later became one of the founding board members of National PKU News, now flok – remaining committed to improved care and treatment for those with PKU and similar disorders, worldwide.
Recommended Uniform Screening Panel (RUSP)
In the U.S., all 50 states require newborn screening, which usually happens within the first 24-48 hours of life. These screenings include a heel stick blood test, pulse oximetry, and hearing tests, to identify potential health concerns before a child shows symptoms. While the screens are not diagnostic, they flag out-of-range results to ensure follow-up testing to either confirm or rule out a diagnosis.
The federal government created a list of conditions, the Recommend Uniform Screening Panel (RUSP), as a national standard for states to adopt in their individual newborn screening panels. The list, updated through input from advocacy groups, medical professionals, and parents, helps ensure the screening process stays up to date.
Although the RUSP establishes a national standard for newborn screening, state health departments ultimately determine the number of conditions they screen for, and how they test for each condition. The variation in testing between states creates health disparities around the country, favoring children born in states that use the most current screening practices.
Gaps in State Screening Protocols
While most states strive to include all conditions from the RUSP in their newborn screening panels, several barriers remain. Testing for new conditions requires significant funding for staffing, lab equipment, and other processes. It can take 5-7 years for a state to fully implement a new screening. Some conditions require complex testing processes that are more difficult for a state health lab to implement, further delaying adoption of the screening.
Even after being added to a panel, test sensitivity can be an issue. Danae Bartke, Executive Director of HCU Network America, shares that approximately 50% of Homocystinuria (HCU) cases are missed at birth because the screening relies on the biomarker methionine, which is often too low in newborns with HCU to trigger a positive result. While some states have adjusted testing thresholds, many cases still go undetected due to the complexity of testing for a more reliable biomarker, homocysteine. Even with the incredible expansion of newborn screening processes over the last 60 years, there is still progress to be made.
RUSP Alignment Legislation
Currently there are 37 conditions on the RUSP, and the list continues to evolve – many states already lag behind. Some states have adopted RUSP Alignment laws, which set expectations for screening all conditions listed on the RUSP, timelines for adding new conditions, and allocation of state funds to implement testing. These laws help ensure that all babies, regardless of where they are born, receive timely and comprehensive screening. There are currently 12 states with RUSP Alignment laws – Arizona, California, Florida, Georgia, Iowa, Maryland, Mississippi, North Carolina, Ohio, Pennsylvania, Tennessee, and Texas.
Get Involved
This September, during Newborn Screening Awareness Month, we invite you to celebrate newborn screening and its lifesaving impact on our rare metabolic community. By supporting efforts to improve newborn screening protocols, you can help ensure that every baby – no matter where they are born – receives the best possible start.
Your story and voice matter in driving change at a state level. To learn more about your state’s newborn screening practices and advisory committee, visit your state’s department of health website. For general resources on how to get involved in newborn screening advocacy, visit:
Everylife Foundation for Rare Diseases
