Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? DOI Creative Commons
Elena Schnabel, Ulrike Mütze, Nicola Dikow

et al.

International Journal of Neonatal Screening, Journal Year: 2024, Volume and Issue: 10(3), P. 62 - 62

Published: Sept. 13, 2024

Driven by technological innovations, newborn screening (NBS) panels have been expanded and the development of genomic NBS pilot programs is rapidly progressing. Decisions on disease selection for are still based Wilson Jungner (WJ) criteria published in 1968. Despite this uniform reference, interpretation WJ actual highly variable. A systematic literature search [PubMED "Wilson" AND "Jungner"; last 16.07.22] was performed to evaluate applicability current future need adaptation. By at least two reviewers, 105 publications (systematic search, N = 77; manual 28) were screened relevant content and, finally, 38 evaluated. Limited study design qualitative text analysis, no statistical evaluation performed, but a structured collection reported aspects criticism proposed improvements instead collated. This revealed set general limitations criteria, such as imprecise terminology, lack measurability objectivity, missing pediatric focus, absent guidance program management. Furthermore, it unraveled specific clinical, diagnostic, therapeutic, economical aspects. major obstacle found be incompletely understood natural history phenotypic diversity rare diseases prior implementation, resulting uncertainty about case definition, risk stratification, indications treatment. gap could closed through real-world evidence quality, safety, (cost-)effectiveness NBS, well long-term benefits experienced individuals. An integrated public health that designed continuously learn would fulfil these requirements, multi-dimensional framework integrating medical, ethical, legal, societal perspectives overdue.

Language: Английский

Determining the characteristics of genetic disorders that predict inclusion in newborn genomic sequencing programs DOI Open Access
Thomas Minten, Nina B. Gold, Sarah K. Bick

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: March 26, 2024

Abstract Genomic sequencing is poised to expand newborn screening for treatable childhood-onset disorders. Over 30 international research studies and companies are exploring its use, collectively aiming screen more than 500,000 infants. A key challenge determining which genes include in screening. Among 27 programs, the number of analyzed ranged from 134 4,299, with only 74 included by over 80% programs. To understand this variability, we assembled a dataset 25 characteristics 4,389 any program used multivariate regression analysis identify associated inclusion across These presence on US Recommended Uniform Screening panel, evidence regarding natural history disease, efficacy treatment. We then machine learning model generate ranked list genes, offering data-driven approach future prioritization disorders public health efforts.

Language: Английский

Citations

13
Universal newborn screening using genome sequencing: early experience from the GUARDIAN study DOI
Alban Ziegler, Wendy K. Chung

Pediatric Research, Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 26, 2024

Language: Английский

Citations

5
Letter to the editor in response to Betzler et al. DOI
Lilian Downie, Sebastian Lunke, Zornitza Stark

et al.

Journal of Inherited Metabolic Disease, Journal Year: 2025, Volume and Issue: 48(1)

Published: Jan. 1, 2025

Language: Английский

Citations

0
Response to Downie et al. DOI

Isabel R. Betzler,

Maja Hempel, Ulrike Mütze

et al.

Journal of Inherited Metabolic Disease, Journal Year: 2025, Volume and Issue: 48(1)

Published: Jan. 1, 2025

Citations

0
Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion DOI Creative Commons
Ulrike Mütze, Svenja Scharré, Elena Schnabel

et al.

European Journal of Paediatric Neurology, Journal Year: 2025, Volume and Issue: 56, P. 84 - 96

Published: April 24, 2025

Newborn screening (NBS) is a successful program of secondary prevention for rare diseases, such as neuro-metabolic enabling early identification affected individuals and pre-symptomatic treatment. Driven by innovations in high-throughput sequencing technologies, NBS panels have continued to grow will probably be extended further the future. However, implementing disease subject various preconditions maximize benefit children, while avoiding harm screened healthy cohort, their families society. Ideally, data on clinical long-term treatment collected prior implementation through observational studies registries. In addition, should implemented an iteratively evaluated public health collection accompanied intra-operable studies, ideally international cooperations. this review, current expertise NBS, strategies possible benefits are presented discussed several including propionic acidemia isolated methylmalonic acidemias, homocystinurias, remethylation defects, acquired cobalamin (vitamin B12) deficiency, urea cycle disorders, tetrahydrobiopterin (BH4) primary neurotransmitter well lysosomal storage disorders. Given these prerequisites, diseases here might part future programs worldwide.

Language: Английский

Citations

0
TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project DOI Creative Commons

Christina Saier,

Stefaan Sansen,

Joanne Berghout

et al.

Orphanet Journal of Rare Diseases, Journal Year: 2025, Volume and Issue: 20(1)

Published: May 15, 2025

Abstract Background Genomic newborn screening (gNBS) offers the potential to detect genetic conditions early, enhancing outcomes through timely treatment. It can serve as an additional tool identify that are not detectable via metabolic screening. The Screen4Care project seeks develop a systematic approach for selecting treatable rare diseases (RDs) inclusion in gNBS creation of TREAT-panel. Methods A set six selection criteria containing treatability, clinical validity, age onset, disease severity, penetrance, and feasibility was applied comprehensive list gene-disease pairs. Genes meeting defined threshold score were included This automated scoring process complemented by expert review from clinicians patient representatives ensure relevance adherence current medical guidelines. Results initial gene list, derived multiple data sources, 484 After applying system two rounds curation, final 245 genes selected. These predominantly represent disorders metabolic, neurological, immunological categories, with treatability early onset key factors. Conclusion TREAT-panel provides curated, scientifically robust gNBS, focusing on RDs actionability. panel will be tested European pilot involving approximately 20,000 newborns, contributing growing body evidence implementation next-generation sequencing (NGS) programs.

Language: Английский

Citations

0
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? DOI Creative Commons
Elena Schnabel, Ulrike Mütze, Nicola Dikow

et al.

International Journal of Neonatal Screening, Journal Year: 2024, Volume and Issue: 10(3), P. 62 - 62

Published: Sept. 13, 2024

Driven by technological innovations, newborn screening (NBS) panels have been expanded and the development of genomic NBS pilot programs is rapidly progressing. Decisions on disease selection for are still based Wilson Jungner (WJ) criteria published in 1968. Despite this uniform reference, interpretation WJ actual highly variable. A systematic literature search [PubMED "Wilson" AND "Jungner"; last 16.07.22] was performed to evaluate applicability current future need adaptation. By at least two reviewers, 105 publications (systematic search, N = 77; manual 28) were screened relevant content and, finally, 38 evaluated. Limited study design qualitative text analysis, no statistical evaluation performed, but a structured collection reported aspects criticism proposed improvements instead collated. This revealed set general limitations criteria, such as imprecise terminology, lack measurability objectivity, missing pediatric focus, absent guidance program management. Furthermore, it unraveled specific clinical, diagnostic, therapeutic, economical aspects. major obstacle found be incompletely understood natural history phenotypic diversity rare diseases prior implementation, resulting uncertainty about case definition, risk stratification, indications treatment. gap could closed through real-world evidence quality, safety, (cost-)effectiveness NBS, well long-term benefits experienced individuals. An integrated public health that designed continuously learn would fulfil these requirements, multi-dimensional framework integrating medical, ethical, legal, societal perspectives overdue.

Language: Английский

Citations

2