Newborn Screening (NBS) programs are state-run public health programs that identify newborns with certain genetic, metabolic, hormonal or functional disorders. With early detection, affected infants can receive prompt treatment that can help prevent permanent disability, developmental delay and death. Approximately 4 million newborns are screened each year and approximately 12,500 of those babies ─ or 1 in 300 ─ have a condition detected through NBS.
The federal government has a limited role in state NBS programs as it provides some funding for state programs and produces the Recommended Uniform Screening Panel (RUSP) — a list of the conditions that should be included on state screening panels — via the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children (ACHDNC). Currently, there are 37 core conditions and 26 secondary conditions recommended for state screening panels.
To be listed on the RUSP, a condition must:
A wave of innovative therapies in development threatens to overwhelm the current NBS system. Only 8 core conditions have been added to the RUSP since the RUSP was initially implemented in 2010. In February 2022, the ACHDNC indicated that it currently has the budget and capacity to review only two conditions each year to determine if they should be added to the RUSP. Because NBS is a vital and proven public health program that saves lives, the NBS system needs to be modernized. To this end, we need to:
Once a condition is added to the RUSP, the time it takes for each state to include these new conditions on their panels varies widely. In some cases, it has taken 10 years for all 50 states to screen for conditions on the RUSP.
We support states’ efforts to screen for all conditions included on the RUSP and to reduce the time it takes for a state to add a condition to its screening panel. States can work toward this goal by incorporating the following ideal elements of an NBS program:
A Rare Disease Advisory Council (RDAC) acts as an advisory body to give the rare disease community a stronger voice in state government. The first RDAC was created in North Carolina in 2015 and, today, 26 states have RDACs. RDACs provide a critical voice to the rare disease community and enable states to address barriers that prevent those affected by rare diseases from obtaining accurate diagnoses as well as proper treatment and care.
Approximately 30 million Americans (almost 1 in 10) have a rare disease, and rare diseases impact individuals of all races, ethnicities, incomes, sexes, ages, etc. With so many different rare diseases to consider, it is challenging for government officials and policymakers to gain and maintain a current understanding of the rare disease landscape. But, government officials engage in regular decision making — in areas such as regulating health insurance plans, designing state Medicaid programs, ensuring access to providers, treatment and needed services (such as newborn screening) — that impacts those with rare diseases. RDACs provide an important forum for these discussions and often support state newborn screening programs in an effort to shorten the diagnostic odyssey associated with receiving an accurate rare disease diagnosis.
Brooke is the mother of 3. All 3 children live with mucopolysaccharidosis type I (MPS I or Hurler Syndrome). With different diagnostic journeys for each child, Brooke shares how newborn screening changed her family’s life.
Kim’s son, Cole, was diagnosed with mucopolysaccharidosis type II (MPS II or Hunter Syndrome) when he was 2 ½ years old. As an MPS advocate, Kim has seen firsthand the benefits of earlier diagnosis through newborn screening. Happily, MPS II was added to the RUSP in August 2022 so kids can potentially have much better outcomes from earlier diagnosis and intervention.
Susan was initially skeptical of the newborn screening process. But, after newborn screening detected her daughter’s rare genetic condition, Maple Syrup Urine Disease (MSUD), Susan is now a fierce advocate of the newborn screening system.Learn More >
Natalie is a pediatric nurse practitioner at Vanderbilt University Medical Center. Listen to her describe the newborn screening process and its importance from the provider perspective.Learn More >
The state of Washington’s newborn screening program currently screens for all 35 core conditions but only 2 secondary conditions that are on the federally recommended panel. Happily, Washington State Representatives introduced House bill 1749 to improve the newborn screening program and Washington State Senators introduced Senate bill 5886 to implement a Rare Disease Advisory Council that would advise the governor, state agencies and legislature on, among other things, the diagnosis of rare diseases. Unfortunately, both bills failed to pass out of committee this session. Now, rare disease patients and their families will need to wait another year to get the support they deserve. The bill would have implemented an advisory council on rare diseases. H.B. 1749 and S.B. 5886 would have ensured issues important to rare disease patients, like newborn screening, remained front and center for the Washington state government moving forward.
It’s important for expecting families to understand newborn screening and the role it can play in ensuring a child’s healthy outcomes. Many are unaware of the benefits and how screenings are done. It’s important to stay aware of what your state screens for compared to other states in your region.Get Additional Resources Here >
Be sure to discuss these items with your provider. They can be a trusted source of information on the screening process, diagnosis and treatments. Communication is always the key to ensure you and your child receive the best care possible.
Learn more here >
While your family may not be directly impacted by rare disease, approximately 30 million Americans are impacted by such diseases. Many need newborn screening to give them a fighting chance to find a diagnosis and to start the process of finding treatments. You can play an important role in providing these families much needed support by spreading awareness within your community and to your local policymakers.
Learn what can happen when poor protocols and policies are in place >
Please support the “Newborn Screening Saves Lives Reauthorization Act.”
Hello [Rep/Sen. INSERT NAME],
My name is [INSERT NAME] and I live in [INSERT CITY/TOWNSHIP]. As your constituent, I am asking you to please support your constituents in [INSERT STATE/DISTRICT] living with rare disease. The Newborn Screening Saves Lives Reauthorization Act (H.R. 482/S.350) is stalled.
Rare disease affects 30 million Americans, half of whom are children. Of those children, 1 in 3 will not live to see their fifth birthday. On average, people living with rare diseases must wait between 5-7 years and see 7-8 doctors before receiving an accurate diagnosis. Parents have no time to waste in their search for an accurate diagnosis.
Supporting the Newborn Screening Saves Lives Reauthorization Act will provide much needed support to states and state labs to ensure more diseases are screened for and that states can screen for all conditions on the Recommended Uniform Screening Panel.
As a parent, I know just how scary it can be when your child is sick, but not knowing what’s wrong is devastating. [INSERT PERSONAL RARE DISEASE STORY/NEWBORN SCREENING STORY IF AVAILABLE].
I believe that as a community, we must do everything we can to support parents so they don’t find themselves falling into a long, drawn-out diagnostic journey.
My hope is that as my representative, you will join the original sponsors of H.R. 482 (Rep. Lucille Roybal-Allard) and S.350 (Senator Margaret Wood Hassan) in supporting American families.
It’s my duty and yours to give these families the support they deserve.
Thank you for your time and attention,
[INSERT FIRST NAME]