ArticleJournal of genetic counseling2016
Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.
Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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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
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.Orphanet journal of rare diseases · 2026Pooled it
- Newborn screening for Fabry disease in the north-west of Spain.European journal of pediatrics · 2017Trial
- Patient-Centric Approach to Improve the Quality of Life and Healing Efficacy for Patients With Fabry Disease: A Grounded Theory-Based Analysis.Journal of Korean medical science · 2026Article
- Article
- Obstacles to Early Diagnosis of Gaucher Disease.Therapeutics and clinical risk management · 2025Review
- A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.International journal of neonatal screening · 2024Review
- Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders.The Lancet regional health. Western Pacific · 2024Article
- Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.Orphanet journal of rare diseases · 2023Article
- Newborn Screening for Fabry Disease: Current Status of Knowledge.International journal of neonatal screening · 2023Review
- Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.International journal of neonatal screening · 2023Article
- Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease.International journal of molecular sciences · 2023Article
- Newborn screening for Pompe disease in Italy: Long-term results and future challenges.Molecular genetics and metabolism reports · 2022Article
- A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.International journal of neonatal screening · 2022Article
- Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.Expert opinion on pharmacotherapy · 2021Article
- Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.Molecular genetics and metabolism reports · 2021Article
- Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional Survey.Internal medicine (Tokyo, Japan) · 2021Observational
- Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?Orphanet journal of rare diseases · 2019Review
- Newborn screening for Pompe disease: impact on families.Journal of inherited metabolic disease · 2018Article
- Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal storage diseases (LSDs), lysosomal enzyme deficiencies causing multi-system organ damage, have come to the forefront in newborn screening (NBS) initiatives due to new screening technologies and emerging treatments. We developed a qualitative discussion tool to explore opinions of genetic healthcare providers (HCPs) regarding population-based NBS for MPS types 1 and 2, Pompe, Gaucher, Fabry, and Krabbe diseases. Thirty-eight telephone interviews conducted by a single researcher were analyzed and coded for thematic trends. Six major themes emerged: 1) treatment availability and efficacy is crucial; 2) early age of disease onset is important; 3) ambiguity regarding prognosis is undesirable; 4) parents' ability to make reproductive decisions is seen by some as a benefit of NBS; 5) paucity of resources for follow-up exists; and 6) the decision-making process for adding conditions to mandated NBS is concerning to HCPs. Among the LSDs discussed, Pompe was considered most appropriate, and Krabbe least appropriate, for NBS. MPS1 and MPS2 were overall considered favorably for screening, but MPS1 ranked higher, due to a perception of better efficacy of therapeutic options. Fabry and Gaucher diseases were viewed less favorably due to later age of onset. The themes identified in this study must be addressed by decision-makers in expanding NBS for LSDs and may be applied to many diseases being considered for NBS in the future.
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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.