ArticleJournal of inherited metabolic disease2012
Newborn screening for lysosomal storage diseases: an ethical and policy analysis.
Article in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents.European journal of human genetics : EJHG · 2016Pooled it
- Newborn screening for Fabry disease in the north-west of Spain.European journal of pediatrics · 2017Trial
- Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.Orphanet journal of rare diseases · 2023Article
- A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.International journal of neonatal screening · 2022Article
- Including ELSI research questions in newborn screening pilot studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Newborn screening for Pompe disease: impact on families.Journal of inherited metabolic disease · 2018Article
- Fostering caring relationships: Suggestions to rethink liberal perspectives on the ethics of newborn screening.Bioethics · 2018Review
- Psychosine, a marker of Krabbe phenotype and treatment effect.Molecular genetics and metabolism · 2017Article
- Biobank participant support of newborn screening for disorders with variable treatment and intervention options.Journal of community genetics · 2016Article
- Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.Journal of genetic counseling · 2016Article
- Stakeholder attitudes towards the role and application of informed consent for newborn bloodspot screening: a study protocol.BMJ open · 2014Article
- Newborn screening for pompe disease? a qualitative study exploring professional views.BMC pediatrics · 2014Article
- Pompe disease: literature review and case series.Neurologic clinics · 2014Review
- The evolution of blood-spot newborn screening.Translational pediatrics · 2014Review
- Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.The Journal of pediatrics · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.