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

  • SSIEM Symposium 2011
  • Published:
Journal of Inherited Metabolic Disease

Abstract

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.

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Abbreviations

AAP:

American Academy of Pediatrics

ACMG:

American College of Medical Genetics

alpha-GAL A:

alpha-Galactosidase A

ASHG:

American Society of Human Genetics

CPS:

Canadian Paediatric Society

CRIM:

Cross-reactive immunologic material

ERT:

Enzyme replacement therapy

FD:

Fabry disease

GAA:

acid-alpha Glucosidase

GALC:

beta-galactocerebrosidase

HSCT:

Hematopoietic stem cell transplantation

IRB:

Institutional Review Board

KD:

Krabbe disease

LSD:

Lysosomal storage disease

MS/MS:

Tandem mass spectrometry

NBS:

Newborn Screening

NY:

New York

PD:

Pompe disease

PKU:

Phenylketonuria

SACHDNC:

Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children

UK:

United Kingdom

US:

United States

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Acknowledgments

I would like to thank Dr. Paul Wuh-Liang Hwu, Dr. Yin-Hsiu Chien, Dr. Marco Spada, Dr. Robert Desnick, and Dr. Richard Erbe for their helpful clarifications about the newborn screening protocols for the various lysosomal storage diseases discussed in this manuscript and for their helpful comments regarding an earlier draft of this manuscript.

Lainie Ross serves on the Illinois Department of Public Health, Genetic and Metabolic Diseases Advisory Committee, June 2009- present. The views expressed are her own and do not reflect the views of the Committee.

All of the personal communications have been reviewed with the authors who approve of the citation.

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Authors and Affiliations

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

    Lainie Friedman Ross

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  1. Lainie Friedman Ross
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Correspondence to Lainie Friedman Ross.

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Communicated by: Rodney Pollitt

Competing interest: None declared.

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Ross, L.F. Newborn screening for lysosomal storage diseases: an ethical and policy analysis. J Inherit Metab Dis 35, 627–634 (2012). https://doi.org/10.1007/s10545-011-9435-0

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