Veldman, Abigail (2022) A Delphi Survey study by Dutch pediatricians and experts of Inborn Metabolic Disorders (IMDs) to reach consensus on the required level of treatability in IMDs to be eligible for Newborn Screening in the Netherlands. thesis, Medicine.
Full text available on request.Abstract
The selection of disorders for Newborn screening (NBS) programs varies a lot per country. Unfortunately, the rationale behind these differences is often not reported. Since, Wilson and Jungner (W&J) criterion 2; ‘There should be an accepted treatment for patients with recognized disease,’ is probably the most important criterion in the discussion to consider any disorder for NBS, we should first be able to agree in the definition of treatability itself. Therefore, we designed an online Delphi study that aims to define treatability for inborn metabolic disorders (IMDs) in NBS, according to Dutch pediatricians and experts on IMDs. Together they form the Expert Panel (EP). To test the proposed definition, it was applied to ten IMDs by the EP. Additionally, the EP was asked if it would include this IMD in the NBS only considering the treatability aspect. After two Delphi rounds, a consensus was reached on ten statements. There was no correlation between a high score on the treatability statements and the inclusion of an IMD in NBS, except for IMDs already included in the current 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. We acknowledge that eventually all W&J criteria should be met. Our definition of treatability consisting of ten statements can help to decide on an IMD’s level of treatability. However, it remains difficult to assess an IMD only on its treatability. Besides, the definition could be different in (future) parents’ eyes. Therefore both experts and parents should be involved in this discussion.
| Item Type: | Thesis (UNSPECIFIED) |
|---|---|
| Supervisor name: | van Spronsen, Prof. dr. FJ (Francjan) and Heiner-Fokkema, dr. MR (Rebecca) |
| Faculty: | Medical Sciences |
| Date Deposited: | 18 Jul 2023 11:05 |
| Last Modified: | 18 Jul 2023 11:05 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/3590 |
Actions (login required)
 |
View Item |