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Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation
Kshea Hale1, Yvonne Kellar-Guenther2, Sarah McKasson3
1Association of Public Health Laboratories, Silver Spring, MD 20910, USA; sikha.singh@aphl.org (S.S.); jelili.ojodu@aphl.org (J.O.).
Insights
Newborn screening programs are expanding to include Pompe disease, a rare genetic disorder. This initiative supports wider implementation of Pompe disease testing in newborns across the United States.
Area of Science:
- Public Health
- Genetics
- Pediatrics
Background:
- Newborn screening (NBS) in the US identifies over 30 genetic disorders in millions of infants annually.
- The Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) guides recommended screening panels.
- Pompe disease was added to the Recommended Uniform Screening Panel (RUSP) in March 2015.
Purpose of the Study:
- To detail the implementation of newborn screening for Pompe disease in US states.
- To identify challenges and lessons learned during the expansion of Pompe disease screening.
- To provide recommendations for future state-level NBS program development.
Main Methods:
- The Association of Public Health Laboratories (APHL) managed the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) New Disorders Implementation Project.
- Financial support was provided to 15 state NBS programs for Pompe disease screening implementation.
- Project progress was tracked through implementation status updates.
Main Results:
- As of April 2020, nine out of 15 participating state NBS programs fully implemented Pompe disease screening.
- Six additional state programs are actively working towards full implementation.
- The project facilitated the advancement of Pompe disease screening in multiple states.
Conclusions:
- Statewide implementation of Pompe disease newborn screening is achievable with dedicated support and resources.
- Addressing implementation challenges is crucial for successful expansion of NBS programs.
- Lessons learned can inform and optimize the rollout of screening for other rare genetic disorders.
Abstract:
Public health programs in the United States screen more than four million babies each year for at least 30 genetic disorders. The Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state newborn screening (NBS) programs to screen. ACHDNC updated the Recommended Uniform Screening Panel (RUSP) to include Pompe disease in March 2015. To support the expansion of screening for Pompe disease, the Association of Public Health Laboratories (APHL) proposed the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) New Disorders Implementation Project, funded by the HHS' Health Resources and Services Administration (HRSA) Maternal and Child Health Bureau (MCHB). Through this project, APHL provided financial support to 15 state NBS programs to enable full implementation of screening for Pompe disease. As of April 27, 2020, nine of the 15 programs had fully implemented Pompe disease newborn screening and six programs are currently pursuing implementation. This article will discuss how states advanced to statewide implementation of screening for Pompe disease, the challenges associated with implementing screening for this condition, the lessons learned during the project, and recommendations for implementing screening for Pompe disease.
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