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...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-10-01
|
| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/9/4/56 |
| _version_ | 1827574616545034240 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Abigail Veldman |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T20:40:39Z |
| format | Article |
| id | doaj.art-3d50f4a1bda74e6c8dfdc49c9d39ba02 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-08T20:40:39Z |
| publishDate | 2023-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-3d50f4a1bda74e6c8dfdc49c9d39ba022023-12-22T14:15:27ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2023-10-01945610.3390/ijns9040056A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn ScreeningAbigail Veldman0M. B. Gea Kiewiet1Dineke Westra2Annet M. Bosch3Marion M. G. Brands4René I. F. M. de Coo5Terry G. J. Derks6Sabine A. Fuchs7Johanna. M. P. van den Hout8Hidde H. Huidekoper9Leo A. J. Kluijtmans10Klaas Koop11Charlotte M. A. Lubout12Margaretha F. Mulder13Bianca Panis14M. Estela Rubio-Gozalbo15Monique G. de Sain-van der Velden16Jaqueline Schaefers17Andrea B. Schreuder18Gepke Visser19Ron A. Wevers20Frits A. Wijburg21M. Rebecca Heiner-Fokkema22Francjan J. van Spronsen23Division of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The NetherlandsDepartment of Genetics, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The NetherlandsDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The NetherlandsDepartment of Pediatrics, Division of Metabolic Disorders, Emma Children’s Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The NetherlandsDepartment of Pediatrics, Division of Metabolic Disorders, Emma Children’s Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The NetherlandsDepartment of Toxicogenomics, Unit Clinical Genomics, MHeNs School for Mental Health and Neuroscience, Maastricht University, 6229 ER Maastricht, The NetherlandsDivision of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The NetherlandsDepartment of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children’s Hospital, 3584 EA Utrecht, The NetherlandsDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GD Rotterdam, The NetherlandsDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GD Rotterdam, The NetherlandsDepartment of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The NetherlandsDepartment of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children’s Hospital, 3584 EA Utrecht, The NetherlandsDivision of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The NetherlandsDepartment of Pediatrics, Division of Metabolic Disorders, Emma Children’s Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The NetherlandsDepartment of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The NetherlandsDepartment of Pediatrics and Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The NetherlandsSection Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The NetherlandsDepartment of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The NetherlandsDivision of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The NetherlandsDepartment of Pediatrics, Division of Metabolic Disorders, Emma Children’s Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The NetherlandsDepartment of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The NetherlandsDepartment of Pediatrics, Division of Metabolic Disorders, Emma Children’s Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The NetherlandsDepartment of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The NetherlandsDivision of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The NetherlandsThe 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.https://www.mdpi.com/2409-515X/9/4/56newborn screeningtreatabilitytreatableWilson and Junger criteriainborn errors of metabolisminherited metabolic disorders |
| spellingShingle | 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 A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening International Journal of Neonatal Screening newborn screening treatability treatable Wilson and Junger criteria inborn errors of metabolism inherited metabolic disorders |
| title | A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening |
| title_full | A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening |
| title_fullStr | A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening |
| title_full_unstemmed | A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening |
| title_short | A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening |
| title_sort | delphi survey study to formulate statements on the treatability of inherited metabolic disorders to decide on eligibility for newborn screening |
| topic | newborn screening treatability treatable Wilson and Junger criteria inborn errors of metabolism inherited metabolic disorders |
| url | https://www.mdpi.com/2409-515X/9/4/56 |
| work_keys_str_mv | AT abigailveldman adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT mbgeakiewiet adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT dinekewestra adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT annetmbosch adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT marionmgbrands adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT reneifmdecoo adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT terrygjderks adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT sabineafuchs adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT johannampvandenhout adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT hiddehhuidekoper adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT leoajkluijtmans adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT klaaskoop adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT charlottemalubout adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT margarethafmulder adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT biancapanis adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT mestelarubiogozalbo adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT moniquegdesainvandervelden adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT jaquelineschaefers adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT andreabschreuder adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT gepkevisser adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT ronawevers adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT fritsawijburg adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT mrebeccaheinerfokkema adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT francjanjvanspronsen adelphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT abigailveldman delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT mbgeakiewiet delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT dinekewestra delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT annetmbosch delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT marionmgbrands delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT reneifmdecoo delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT terrygjderks delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT sabineafuchs delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT johannampvandenhout delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT hiddehhuidekoper delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT leoajkluijtmans delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT klaaskoop delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT charlottemalubout delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT margarethafmulder delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT biancapanis delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT mestelarubiogozalbo delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT moniquegdesainvandervelden delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT jaquelineschaefers delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT andreabschreuder delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT gepkevisser delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT ronawevers delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT fritsawijburg delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT mrebeccaheinerfokkema delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening AT francjanjvanspronsen delphisurveystudytoformulatestatementsonthetreatabilityofinheritedmetabolicdisorderstodecideoneligibilityfornewbornscreening |