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Int. J. Neonatal Screen. 2018, 4(3), 21; https://doi.org/10.3390/ijns4030021

Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come?

1
Centre for Clinical Genetics, Sydney Children’s Hospital, Randwick, NSW 2031, Australia
2
Paediatrics and Child Health, University of Sydney, Sydney, NSW 2006, Australia
Received: 21 May 2018 / Revised: 13 June 2018 / Accepted: 26 June 2018 / Published: 27 June 2018
(This article belongs to the Special Issue Newborn Screening for Lysosomal Storage Disorders)
Full-Text   |   PDF [173 KB, uploaded 27 June 2018]

Abstract

Newborn screening for several lysosomal disorders can now be accomplished successfully for case finding. However, many cases identified do not require immediate intervention and it is not yet clear, for some disorders, if there is a benefit in early diagnosis for those cases, or what should be called a benefit. Diagnosing adult-onset cases, especially when there are quite imperfect genotype-phenotype correlations, represents a significant expansion of what has heretofore been considered the aim of newborn screening. This mission creep should be carefully discussed, and certain aspects of newborn screening strengthened. We should all proceed with caution in this field. View Full-Text
Keywords: newborn screening; outcome; lysosomal storage disorders; Pompe disease; Krabbe disease; mission creep newborn screening; outcome; lysosomal storage disorders; Pompe disease; Krabbe disease; mission creep
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).
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Wilcken, B. Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come? Int. J. Neonatal Screen. 2018, 4, 21.

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