ENOrphanet Journal of Rare Diseases | Influence of Expert Opinions on the Development of Adult Treatment Guidelines for Phenylketonuria
日期: April 05, 2025
分类: Frontiers
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This study explores how the personal values and perspectives of experts influence the development of adult treatment goals for phenylketonuria (PKU) in the absence of high-quality scientific evidence, emphasizing the importance of transparency in expert input when developing guidelines for rare diseases.
Literature Overview
The article, titled 'The influence of professionals’ personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria', published in the Orphanet Journal of Rare Diseases, reviews and summarizes how the personal experiences and opinions of experts influence decision-making in the development of adult PKU treatment guidelines. The study analyzes expert interpretations and preference variations under limited scientific evidence using a survey approach. Data were collected from the European PKU guideline revision panel. The findings reveal the sources and impact of expert disagreements in establishing adult treatment guidelines.
Background Knowledge
Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency in phenylalanine hydroxylase, leading to phenylalanine accumulation in the body, which affects brain development and may result in intellectual disability, seizures, and behavioral problems. Due to the widespread implementation of newborn screening, early diagnosis and low-phenylalanine dietary therapy have significantly improved outcomes for PKU patients. However, there is insufficient scientific evidence regarding long-term treatment goals for adults, which has led to reliance on expert opinion during the development of treatment guidelines. During the revision of the European adult PKU treatment guidelines, significant disagreements emerged among experts regarding the target phenylalanine control levels, with some advocating for strict control (e.g., <600 µmol/l) and others favoring a more individualized or even non-specific approach. The research team recognized that personal experience, clinical preferences, and values of experts may dominate recommendations in the absence of strong evidence, and thus designed a survey to analyze these subjective factors. Additionally, dietary therapy significantly affects patients' mental health and social functioning, making the balance between treatment maintenance and burden reduction a key issue in guideline development. This study provides insights for future guideline development processes on the transparency of expert opinions and the inclusion of patient values.
Research Methods and Experiment
The study employed an online questionnaire distributed to 23 experts involved in the European PKU guideline revision, with 19 (83%) completing it. The questionnaire covered expert demographics, perspectives on adult treatment goals, interpretation preferences for scientific data, and general views on developing adult treatment guidelines. The aim was to quantify differences in expert opinions, particularly their decision-making tendencies in the absence of high-quality evidence.
Key Findings and Perspectives
Significance and Future Directions
The study underscores the importance of transparent expert input when scientific evidence is limited, to reduce recommendation bias. Future guidelines should incorporate patient values and preferences to better balance treatment benefits and burdens. Moreover, the subjective nature of data interpretation by experts suggests the need for more robust consensus mechanisms, such as anonymous Delphi surveys, to minimize the influence of individual dominance in discussions.
Conclusion
This study reveals significant differences in expert opinions when developing adult treatment goals for phenylketonuria (PKUK). Although most experts support maintaining metabolic control (phenylalanine <600 µmol/l), some favor a more lenient approach, particularly in data interpretation and risk preference. The findings show that experts differ in how they define treatment success, with some viewing intergroup neuropsychological differences as clinically relevant, while others focus more on treatment burden. These disagreements highlight the influence of personal values and experience in shaping recommendations for rare disease guidelines. Future guideline development should transparently disclose expert opinions and incorporate patient perspectives to ensure balanced decision-making. Additionally, the study recommends the use of anonymous Delphi methods to reduce the impact of individual dominance in discussions, resulting in more scientific and patient-centered guidelines.
