Veldman Abigail, Kiewiet M B Gea, Westra Dineke, Bosch Annet M, Brands Marion M G, de Coo René I F M, Derks Terry G J, Fuchs Sabine A, van den Hout Johanna M P, Huidekoper Hidde H, Kluijtmans Leo A J, Koop Klaas, Lubout Charlotte M A, Mulder Margaretha F, Panis Bianca, Rubio-Gozalbo M Estela, de Sain-van der Velden Monique G, Schaefers Jaqueline, Schreuder Andrea B, Visser Gepke, Wevers Ron A, Wijburg Frits A, Heiner-Fokkema M Rebecca, van Spronsen Francjan J
Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands.
Department of Genetics, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands.
Int J Neonatal Screen. 2023 Oct 11;9(4):56. doi: 10.3390/ijns9040056.
The Wilson and Jungner (W&J) and Andermann criteria are meant to help select diseases eligible for population-based screening. With the introduction of next-generation sequencing (NGS) methods for newborn screening (NBS), more inherited metabolic diseases (IMDs) can technically be included, and a revision of the criteria was attempted. This study aimed to formulate statements and investigate whether those statements could elaborate on the criterion of for IMDs to decide on eligibility for NBS. An online Delphi study was started among a panel of Dutch IMD experts (EPs). EPs evaluated, amended, and approved statements on that were subsequently applied to 10 IMDs. After two rounds of Delphi, consensus was reached on 10 statements. Application of these statements selected 5 out of 10 IMDs proposed for this study as eligible for NBS, including 3 IMDs in the current Dutch NBS. The statement: 'The expected benefit/burden ratio of early treatment is positive and results in a significant health outcome' contributed most to decision-making. Our Delphi study resulted in 10 statements that can help to decide on eligibility for inclusion in NBS based on , also showing that other criteria could be handled in a comparable way. Validation of the statements is required before these can be applied as guidance to authorities.
威尔逊和荣格纳（W&J）标准以及安德曼标准旨在帮助筛选适合进行人群筛查的疾病。随着用于新生儿筛查（NBS）的下一代测序（NGS）方法的引入，从技术上讲，可以纳入更多的遗传性代谢疾病（IMD），因此有人尝试对这些标准进行修订。本研究旨在制定相关陈述，并调查这些陈述是否能够详细阐述IMD纳入NBS的标准以确定其是否符合条件。在一组荷兰IMD专家（EP）中开展了一项在线德尔菲研究。EP们对关于纳入标准的陈述进行评估、修改并批准，随后将这些陈述应用于10种IMD。经过两轮德尔菲研究，就10条陈述达成了共识。应用这些陈述后，本研究中提议的10种IMD中有5种被选为符合NBS条件，其中包括荷兰现行NBS中的3种IMD。“早期治疗的预期效益/负担比为正，且会带来显著的健康结果”这一陈述对决策的贡献最大。我们的德尔菲研究得出了10条陈述，这些陈述有助于根据纳入标准来决定是否符合NBS纳入条件，同时也表明其他标准也可以以类似方式处理。在将这些陈述用作向当局提供的指导之前，需要对其进行验证。
