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J Inherit Metab Dis. 2012 Jul;35(4):627-34. doi: 10.1007/s10545-011-9435-0. Epub 2011 Dec 22.

Newborn screening for lysosomal storage diseases: an ethical and policy analysis.

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University of Chicago, 5841 S Maryland Ave, MC 6082, Chicago, IL 60637, USA.


The traditional focus of newborn screening (NBS) is testing infants for medical conditions like phenylketonuria (PKU) that may cause significant morbidity or mortality unless treatment is initiated early. Although the Wilson and Jungner criteria were not designed specifically for NBS, the public health screening criteria have been used, with some modifications, to justify what conditions are included in a universal NBS panel. These criteria are being challenged by platform technologies like tandem mass spectrometry (MS/MS) that allow for the identification of numerous conditions on a single sample because they identify many conditions and variants simultaneously, some of which meet and others which fail to meet the criteria. In this manuscript, I evaluate three lysosomal storage diseases included in this multiplex screening test-Pompe disease, Fabry disease, and Krabbe disease. I show that they fail to meet some of the critical Wilson and Jungner criteria and thus are not ready for inclusion in universal NBS panels. Rather, screening for these conditions should only be performed in the research context with institutional review board approval and parental permission.

[Indexed for MEDLINE]

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