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

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

doi:10.3390/ijns9040056

International Journal of Neonatal Screening (Oct 2023)

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

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

Affiliations

Abigail Veldman: Division of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands
M. B. Gea Kiewiet: Department of Genetics, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands
Dineke Westra: Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands
Annet M. Bosch: Department of Pediatrics, Division of Metabolic Disorders, Emma Children’s Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands
Marion M. G. Brands: Department of Pediatrics, Division of Metabolic Disorders, Emma Children’s Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands
René I. F. M. de Coo: Department of Toxicogenomics, Unit Clinical Genomics, MHeNs School for Mental Health and Neuroscience, Maastricht University, 6229 ER Maastricht, The Netherlands
Terry G. J. Derks: Division of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands
Sabine A. Fuchs: Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children’s Hospital, 3584 EA Utrecht, The Netherlands
Johanna. M. P. van den Hout: Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands
Hidde H. Huidekoper: Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands
Leo A. J. Kluijtmans: Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands
Klaas Koop: Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children’s Hospital, 3584 EA Utrecht, The Netherlands
Charlotte M. A. Lubout: Division of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands
Margaretha F. Mulder: Department of Pediatrics, Division of Metabolic Disorders, Emma Children’s Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands
Bianca Panis: Department of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands
M. Estela Rubio-Gozalbo: Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands
Monique G. de Sain-van der Velden: Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands
Jaqueline Schaefers: Department of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands
Andrea B. Schreuder: Division of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands
Gepke Visser: Department of Pediatrics, Division of Metabolic Disorders, Emma Children’s Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands
Ron A. Wevers: Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands
Frits A. Wijburg: Department of Pediatrics, Division of Metabolic Disorders, Emma Children’s Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands
M. Rebecca Heiner-Fokkema: Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands
Francjan J. van Spronsen: Division of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands

DOI: https://doi.org/10.3390/ijns9040056
Journal volume & issue: Vol. 9, no. 4
p. 56

Abstract

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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.

Published in International Journal of Neonatal Screening

ISSN: 2409-515X (Online)
Publisher: MDPI AG
Country of publisher: Switzerland
LCC subjects: Medicine: Pediatrics
Website: https://www.mdpi.com/journal/ijns

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