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Newborn Screening for Pompe Disease
Olaf A Bodamer1, C Ronald Scott2, Roberto Giugliani3
1Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts; olaf.bodamer@childrens.harvard.edu.
Insights
Newborn screening (NBS) for Pompe disease is a promising public health initiative. However, inconsistent implementation across regions necessitates standardized approaches for effective early detection and treatment.
Area of Science:
- Public Health
- Genetics
- Pediatrics
Background:
- Newborn screening (NBS) has significantly reduced morbidity and mortality for treatable conditions since its inception in 1963.
- Pompe disease, a rare genetic disorder, is a suitable candidate for NBS due to the availability of presymptomatic treatments.
- Current NBS programs for Pompe disease exhibit significant regional and global inconsistencies in implementation and scope.
Purpose of the Study:
- To review current methodologies employed in newborn screening for Pompe disease.
- To summarize the outcomes of ongoing and existing NBS programs for Pompe disease.
- To discuss the challenges and potential limitations associated with Pompe disease NBS.
Main Methods:
- Systematic review of established and emerging NBS technologies for Pompe disease.
- Analysis of data from current and historical NBS programs in the US and internationally.
- Expert consensus from the Pompe Disease Newborn Screening Working Group.
Main Results:
- Pompe disease is identified as a viable condition for NBS, with varying degrees of program adoption globally.
- Current NBS programs demonstrate the feasibility of early detection, but results are inconsistent.
- Key challenges include assay variability, follow-up protocols, and resource allocation.
Conclusions:
- Standardized NBS for Pompe disease is crucial for equitable access to early diagnosis and treatment.
- Addressing implementation challenges is essential to maximize the public health benefits of Pompe disease NBS.
- Further research and international collaboration are needed to optimize NBS strategies for Pompe disease.
Abstract:
Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good candidate for NBS. Because decisions regarding which diseases should be included in NBS panels are made regionally and locally, programs and efforts for NBS for Pompe disease have been inconsistent both in the United States and globally. In this article, published in the "Newborn Screening, Diagnosis, and Treatment for Pompe Disease" guidance supplement, the Pompe Disease Newborn Screening Working Group, an international group of experts in both NBS and Pompe disease, review the methods used for NBS for Pompe disease and summarize results of current and ongoing NBS programs in the United States and other countries. Challenges and potential drawbacks associated with NBS also are discussed.
