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International Journal of Neonatal Screening, Volume 9, Issue 4
December 2023 - 16 articles
Cover Story: Dutch experts on Inherited Metabolic Disease (IMD) utilized a Delphi Survey to formulate some statements concerning the Wilson and Jungner (W&J) criterion ‘Treatability’ in the context of newborn screening (NBS). Ten statements were formulated and applied. The results suggest that a transparent Delphi study with a clear consensus is a suitable method for establishing a scoring system for Treatability. However, this study also showed the complexity of eligibility assessment for NBS, indicating that the evaluation of other interrelated W&J criteria is essential as well. The study is an initial step in the process of selecting disorders for NBS, particularly if genetic screening methods are introduced as first tier and more IMDs are technically eligible for inclusion. View this paper
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Int. J. Neonatal Screen. - ISSN 2409-515X