A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

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...

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Main Authors: Abigail Veldman (Author), M. B. Gea Kiewiet (Author), Dineke Westra (Author), Annet M. Bosch (Author), Marion M. G. Brands (Author), René I. F. M. de Coo (Author), Terry G. J. Derks (Author), Sabine A. Fuchs (Author), Johanna. M. P. van den Hout (Author), Hidde H. Huidekoper (Author), Leo A. J. Kluijtmans (Author), Klaas Koop (Author), Charlotte M. A. Lubout (Author), Margaretha F. Mulder (Author), Bianca Panis (Author), M. Estela Rubio-Gozalbo (Author), Monique G. de Sain-van der Velden (Author), Jaqueline Schaefers (Author), Andrea B. Schreuder (Author), Gepke Visser (Author), Ron A. Wevers (Author), Frits A. Wijburg (Author), M. Rebecca Heiner-Fokkema (Author), Francjan J. van Spronsen (Author)
Format: Book
Published: MDPI AG, 2023-10-01T00:00:00Z.
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100 1 0 |a Abigail Veldman  |e author 
700 1 0 |a M. B. Gea Kiewiet  |e author 
700 1 0 |a Dineke Westra  |e author 
700 1 0 |a Annet M. Bosch  |e author 
700 1 0 |a Marion M. G. Brands  |e author 
700 1 0 |a René I. F. M. de Coo  |e author 
700 1 0 |a Terry G. J. Derks  |e author 
700 1 0 |a Sabine A. Fuchs  |e author 
700 1 0 |a Johanna. M. P. van den Hout  |e author 
700 1 0 |a Hidde H. Huidekoper  |e author 
700 1 0 |a Leo A. J. Kluijtmans  |e author 
700 1 0 |a Klaas Koop  |e author 
700 1 0 |a Charlotte M. A. Lubout  |e author 
700 1 0 |a Margaretha F. Mulder  |e author 
700 1 0 |a Bianca Panis  |e author 
700 1 0 |a M. Estela Rubio-Gozalbo  |e author 
700 1 0 |a Monique G. de Sain-van der Velden  |e author 
700 1 0 |a Jaqueline Schaefers  |e author 
700 1 0 |a Andrea B. Schreuder  |e author 
700 1 0 |a Gepke Visser  |e author 
700 1 0 |a Ron A. Wevers  |e author 
700 1 0 |a Frits A. Wijburg  |e author 
700 1 0 |a M. Rebecca Heiner-Fokkema  |e author 
700 1 0 |a Francjan J. van Spronsen  |e author 
245 0 0 |a A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening 
260 |b MDPI AG,   |c 2023-10-01T00:00:00Z. 
500 |a 10.3390/ijns9040056 
500 |a 2409-515X 
520 |a 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 <i>treatability</i> 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 <i>treatability</i> 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 <i>treatability</i>, 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. 
546 |a EN 
690 |a newborn screening 
690 |a treatability 
690 |a treatable 
690 |a Wilson and Junger criteria 
690 |a inborn errors of metabolism 
690 |a inherited metabolic disorders 
690 |a Pediatrics 
690 |a RJ1-570 
655 7 |a article  |2 local 
786 0 |n International Journal of Neonatal Screening, Vol 9, Iss 4, p 56 (2023) 
787 0 |n https://www.mdpi.com/2409-515X/9/4/56 
787 0 |n https://doaj.org/toc/2409-515X 
856 4 1 |u https://doaj.org/article/3d50f4a1bda74e6c8dfdc49c9d39ba02  |z Connect to this object online.