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. 2023 Oct 11;9(4):56.
doi: 10.3390/ijns9040056.

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

Abigail Veldman  1 , M B Gea Kiewiet  2 , Dineke Westra  3 , Annet M Bosch  4 , Marion M G Brands  4 , René I F M de Coo  5 , Terry G J Derks  1 , Sabine A Fuchs  6 , Johanna M P van den Hout  7 , Hidde H Huidekoper  7 , Leo A J Kluijtmans  8 , Klaas Koop  6 , Charlotte M A Lubout  1 , Margaretha F Mulder  4 , Bianca Panis  9 , M Estela Rubio-Gozalbo  10 , Monique G de Sain-van der Velden  11 , Jaqueline Schaefers  9 , Andrea B Schreuder  1 , Gepke Visser  4   6 , Ron A Wevers  8 , Frits A Wijburg  4 , M Rebecca Heiner-Fokkema  12 , Francjan J van Spronsen  1
Affiliations

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

Abigail Veldman et al. Int J Neonatal Screen. .

Abstract

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 treatability 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 treatability 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 treatability, 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.

Keywords: Wilson and Junger criteria; inborn errors of metabolism; inherited metabolic disorders; newborn screening; next-generation sequencing; treatability; treatable.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Flowchart of the design of the Treatability Delphi study.
Figure 2
Figure 2
Item and statement throughput of the Delphi process in Part 1.1 and Part 1.2. Q = question/item, nc = no consensus, c = consensus * An exception was made for Q6 and Q7 (Appendix A) in which only the statements that indicate “the minimum number of publications” or “minimum number of patients” and reached consensus were added to the final list of statements.
See this image and copyright information in PMC

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