What is newborn screening?
Newborn screening is one of the most successful public health programs ever enacted, saving thousands of lives over the past 50 years. Newborn screening allows physicians to catch rare genetic conditions at birth and start treatment almost immediately following birth; it enables efficient diagnosis and access to treatments that can save lives. In this way, many of the worst effects of a disease can be mitigated.
Additionally, all infants born in the USA, regardless of race or socioeconomic status, undergo screening at birth. As one of the few quasi-universal public health requirements in the US, newborn screening mandates help reduce health disparities among infants of color.
Newborn screening at the state level
States use the federal Recommended Uniform Screening Panel (RUSP) to inform screening programs. The Recommended Uniform Screening Panel (RUSP) now has 35 core conditions, with reporting of 26 secondary conditions.
Not all states screen for all 35 core conditions recommended at the federal level. This is because newborn screening programs are regulated and operated almost entirely at the state level but supported by federal funding. States decide what conditions to screen for and what regulations should surround the newborn screening program, including mandated times to complete the panel analysis and uses of blood spot data following the test.
What will the Newborn Screening Saves Lives Reauthorization Act do?
The Newborn Screening Saves Lives Act governs newborn screening at the federal level.
The Act reauthorizes existing federal programs that:
- Assist states in improving and expanding programs
- Support parent and provider education
- Ensure laboratory quality and effective surveillance
- Facilitate adding of conditions to the Recommended Uniform Screening Panel (RUSP)
In summary, this bill improves state screening programs, educates parents and health care providers, improves follow-up care for infants with a condition detected through newborn screening, and ensures every infant is screened for conditions which have a known treatment.
Why is newborn screening important to the PWS community?
Although PWS is not currently part of the uniform screening panel, the screening can rule out and/or diagnosis similar conditions that also present initially with low muscle tone and failure to thrive, reducing the instances of misdiagnosis and delayed treatment.
Thanks to several research studies, there is a strong case for including PWS into newborn screening programs as there are clear benefits for affected infants and their families through early diagnosis and intervention.
PWSA | USA supports robust, well-funded newborn screening programs in every state, and encourages state lawmakers to prioritize the early detection of these conditions, including PWS. We encourage every state to adopt the Uniform Newborn Screening Panel and will advocate for this adoption in each state that currently does not screen for the 35 disorders included within the panel.
Jennifer Bolander has been serving as a Special Education Specialist for PWSA (USA) since October of 2015. She is a graduate of John Carroll University and lives in Ohio with her husband Brad and daughters Kate (17), and Sophia (13) who was born with PWS.
Perry A. Zirkel has written more than 1,500 publications on various aspects of school law, with an emphasis on legal issues in special education. He writes a regular column for NAESP’s Principal magazine and NASP’s Communiqué newsletter, and he did so previously for Phi Delta Kappan and Teaching Exceptional Children.
Evan has worked with the Prader-Willi Syndrome Association (USA) since 2007 primarily as a Crisis Intervention and Family Support Counselor. Evans works with parents and schools to foster strong collaborative relationships and appropriate educational environments for students with PWS.
Dr. Amy McTighe is the PWS Program Manager and Inpatient Teacher at the Center for Prader-Willi Syndrome at the Children’s Institute of Pittsburgh. She graduated from Duquesne University receiving her Bachelor’s and Master’s degree in Education with a focus on elementary education, special education, and language arts.
Staci Zimmerman works for Prader-Willi Syndrome Association of Colorado as an Individualized Education Program (IEP) consultant. Staci collaborates with the PWS multi-disciplinary clinic at the Children’s Hospital in Denver supporting families and school districts around the United States with their child’s Individual Educational Plan.
Founded in 2001, SDLC is a non-profit legal services organization dedicated to protecting and advancing the legal rights of people with disabilities throughout the South. It partners with the Southern Poverty Law Center, Protection and Advocacy (P&A) programs, Legal Services Corporations (LSC) and disability organizations on major, systemic disability rights issues involving the Individuals with Disabilities Education Act (IDEA), Americans with Disabilities Act (ADA), and the federal Medicaid Act. Recently in November 2014, Jim retired.