Priority-setting criteria for clinical practice guideline development on rare genetic neurodevelopmental disorders: a Delphi study within the European Reference Network ITHACA

Objectives

The prioritization of clinical practice guideline (CPG) efforts is particularly challenging for rare genetic neurodevelopmental disorders given the large number of (ultra)rare conditions and limited resources. We aimed to establish criteria for the priority-setting of CPG topics within the European Reference Network (ERN) Intellectual disability, TeleHealth, Autism, and Congenital Anomalies (ITHACA) based on stakeholder input.

Study Design and Setting

Sets of priority-setting criteria for etiology-specific CPGs and shared health topic CPGs (across etiologies) were generated using a 2-phase consensus process. The first phase consisted of initial criteria generation, internal feedback from the ERN ITHACA Executive Committee and Patient Advisory Board, and stakeholder input through an open survey. The second phase consisted of a 2-round modified Delphi and consensus meeting with an expert panel consisting of patient advocates, clinicians, and methodologists.

Results

The final sets of priority-setting criteria included absence of existing guidance, high burden for affected individuals and families, and specific health risks requiring adaptation from usual care. In addition, complexity and treatment availability were included for etiology-specific CPGs and common occurrence and societal burden were included for CPGs for shared health topics. Availability and interest of clinical experts and patient organizations were considered required to produce CPGs; shared health topics addressed through dedicated CPGs need to be universal across etiologies.

Conclusion

Aligning with stakeholder perspectives in priority-setting is required to allocate scarce resources to the development of high-priority CPGs for rare conditions. Priority-setting criteria specific to the rare condition context were identified. CPG development was considered a particular priority important for complex conditions and/or health care and where care is nonstandard. Practice variation was not selected as a priority-setting criterion.