The influence of professionals’ personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria

Annemiek M. J. van Wegberg; Cristina Romani; Francjan J. van Spronsen

doi:10.1186/s13023-025-03983-y

The influence of professionals’ personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria

Annemiek M. J. van Wegberg, Cristina Romani, Francjan J. van Spronsen^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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Abstract

Background: In the process of guideline development, expert opinion is introduced when there is low-quality or no scientific evidence available. During the first revision of the European phenylketonuria guidelines, the limited data regarding adult treatment targets was interpreted and weighted in different ways by different professionals. In this study, we have recorded and analyzed personal experience and views that may affect decisions. Methods: A web-based questionnaire was sent to all panelists involved in the revision of the guidelines (n = 23), evaluating demographics, opinion about treatment targets, interpretation of scientific data and general views to establish adult specific treatment guidelines. Results: 19 panelists responded. Most acknowledged the importance of maintaining metabolic control even in adulthood with target levels in line with previous recommendations, but that dietary treatment is a limiting factor for social life. 68% preferred the risk of over-treatment rather than undertreatment. The great majority considered cognitive, behavioral and wellbeing measures to be critical to measure treatment success. 58% considered significant group differences of 1 SD or less in neuropsychological tasks to be clinically significant. Conclusion: Results highlight differences in expert opinions and the importance of making them more transparent to reach less-biased recommendations.

Original language	English
Article number	571
Number of pages	9
Journal	Orphanet Journal of Rare Diseases
Volume	20
Issue number	1
Early online date	10 Nov 2025
DOIs	https://doi.org/10.1186/s13023-025-03983-y
Publication status	Published - 10 Nov 2025

Bibliographical note

Copyright © The Author(s) 2025. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.

Keywords

Preferences
PKU
Values
Expert opinion

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10.1186/s13023-025-03983-yLicence: CC BY 4.0

The influence of professionals’ personal views and values in the development of guidelines for rare diseases
Copyright © The Author(s) 2025. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.
Final published version, 779 KBLicence: CC BY 4.0

Cite this

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N2 - Background: In the process of guideline development, expert opinion is introduced when there is low-quality or no scientific evidence available. During the first revision of the European phenylketonuria guidelines, the limited data regarding adult treatment targets was interpreted and weighted in different ways by different professionals. In this study, we have recorded and analyzed personal experience and views that may affect decisions. Methods: A web-based questionnaire was sent to all panelists involved in the revision of the guidelines (n = 23), evaluating demographics, opinion about treatment targets, interpretation of scientific data and general views to establish adult specific treatment guidelines. Results: 19 panelists responded. Most acknowledged the importance of maintaining metabolic control even in adulthood with target levels in line with previous recommendations, but that dietary treatment is a limiting factor for social life. 68% preferred the risk of over-treatment rather than undertreatment. The great majority considered cognitive, behavioral and wellbeing measures to be critical to measure treatment success. 58% considered significant group differences of 1 SD or less in neuropsychological tasks to be clinically significant. Conclusion: Results highlight differences in expert opinions and the importance of making them more transparent to reach less-biased recommendations.

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The influence of professionals’ personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria

Abstract

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