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© 2024 by the authors. Published by MDPI on behalf of the International Society for Neonatal Screening. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

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

Details

Title
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?
Author
Schnabel-Besson, Elena 1   VIAFID ORCID Logo  ; Mütze, Ulrike 1   VIAFID ORCID Logo  ; Dikow, Nicola 2   VIAFID ORCID Logo  ; Hörster, Friederike 1 ; Morath, Marina A 1 ; Alex, Karla 3   VIAFID ORCID Logo  ; Brennenstuhl, Heiko 2   VIAFID ORCID Logo  ; Settegast, Sascha 3   VIAFID ORCID Logo  ; Okun, Jürgen G 1 ; Schaaf, Christian P 2   VIAFID ORCID Logo  ; Winkler, Eva C 3 ; Kölker, Stefan 1   VIAFID ORCID Logo 

 Division of Pediatric Neurology and Metabolic Medicine, Department of Pediatrics I, Medical Faculty of Heidelberg, Heidelberg University, 69120 Heidelberg, Germany 
 Institute of Human Genetics, University Hospital Heidelberg, Heidelberg University, 69120 Heidelberg, Germany 
 Section Translational Medical Ethics, Department of Medical Oncology, National Center for Tumor Diseases (NCT), Medical Faculty of Heidelberg, Heidelberg University, 69120 Heidelberg, Germany 
First page
62
Publication year
2024
Publication date
2024
Publisher
MDPI AG
e-ISSN
2409515X
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3110478407
Copyright
© 2024 by the authors. Published by MDPI on behalf of the International Society for Neonatal Screening. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.