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Lessons Learned from Pompe Disease Newborn Screening and Follow-up
Tracy L Klug1, Lori B Swartz1, Jon Washburn2
1Missouri Department of Health and Senior Services, P.O. Box 570, Jefferson City, MO 65102-0570, USA.
Insights
Newborn screening for Pompe disease is now widespread, but higher-than-expected rates of later-onset Pompe disease and pseudodeficiency alleles require careful consideration in screening protocols.
Area of Science:
- Medical Genetics
- Newborn Screening
- Lysosomal Storage Disorders
Background:
- Pompe disease, a lysosomal storage disorder, was recommended for universal newborn screening in 2015.
- Newborn screening for Pompe disease is now active in 20 US states and internationally.
- Initial screening anticipated lower rates of later-onset disease and pseudodeficiency alleles.
Purpose of the Study:
- To analyze six years of Pompe disease newborn screening data from Missouri.
- To evaluate the impact of later-onset phenotypes and pseudodeficiency alleles on screening outcomes.
- To inform future Pompe disease newborn screening strategies.
Main Methods:
- Retrospective analysis of screening data from the Missouri State Public Health Laboratory.
- Review of follow-up data for infants identified through newborn screening.
- Assessment of Pompe disease and pseudodeficiency allele frequencies.
Main Results:
- The observed rates of later-onset Pompe disease phenotypes were higher than initially projected.
- Pseudodeficiency alleles also presented a notable frequency, impacting screening interpretation.
- Data provides insights into the real-world performance of Pompe disease newborn screening.
Conclusions:
- Newborn screening for Pompe disease requires ongoing evaluation due to unexpected allele frequencies.
- Consideration of later-onset phenotypes and pseudodeficiency alleles is crucial for accurate screening.
- This data contributes to refining universal newborn screening for Pompe disease.
Abstract:
In 2015, Pompe disease became the first lysosomal storage disorder to be recommended for universal newborn screening by the Secretary of the U.S. Department of Health and Human Services. Newborn screening for Pompe has been implemented in 20 states and several countries across the world. The rates of later-onset disease phenotypes for Pompe and pseudodeficiency alleles are higher than initially anticipated, and these factors must be considered during Pompe disease newborn screening. This report presents an overview of six years of data from the Missouri State Public Health Laboratory for Pompe disease newborn screening and follow-up.
