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

[krabbe disease]

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 .