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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2023-10-01T00:00:00Z.
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001 | doaj_3d50f4a1bda74e6c8dfdc49c9d39ba02 | ||
042 | |a dc | ||
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. |