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

Autor: Veldman A; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Kiewiet MBG; Department of Genetics, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Westra D; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Brands MMG; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., de Coo RIFM; Department of Toxicogenomics, Unit Clinical Genomics, MHeNs School for Mental Health and Neuroscience, Maastricht University, 6229 ER Maastricht, The Netherlands., Derks TGJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Fuchs SA; Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., van den Hout JMP; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Kluijtmans LAJ; Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Koop K; Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., Lubout CMA; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Mulder MF; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Panis B; Department of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., de Sain-van der Velden MG; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Schaefers J; Department of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Schreuder AB; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Visser G; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands.; Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., Wevers RA; Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Wijburg FA; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Heiner-Fokkema MR; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands.
Jazyk: angličtina
Zdroj: International journal of neonatal screening [Int J Neonatal Screen] 2023 Oct 11; Vol. 9 (4). Date of Electronic Publication: 2023 Oct 11.
DOI: 10.3390/ijns9040056
Abstrakt: 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.
Databáze: MEDLINE