Guidelines or Other Guidance Documents for Rare Diseases in the Netherlands: When and Where to Invest (Effort, Time and Money)?

Introduction: Developing Clinical Practice Guidelines (CPGs) is resource-intensive, making it essential to prioritise those CPG projects that are most needed. One of the rules pertains to prevalence, which excludes virtually all guideline development for rare diseases. Still, guidance is needed for their management. We discuss considerations pertaining to the decision to develop a CPG or another type of guidance document for a rare disease. Methods: Using a consensus-based approach, an expert group developed a decision support flowchart to decide about the development of a clinical practice guideline or an alternative type of guidance document for rare diseases. An expert group of three guideline methodologists, a paediatrician, and two quality of care policy officers drafted an initial flowchart. The flowchart was reviewed and refined through three rounds of steering committee discussions in different settings, after which final adaptations were made. Results: The flowchart serves as a support tool to consider whether a CPG is the most suitable type of guidance document for addressing clinical challenges in a particular rare disease. Several alternatives may be more appropriate than developing a CPG, such as a local protocol, a care pathway, a didactic paper, or adolopment or adaptation of an international CPG illustrated by three conditions. Discussion: The proposed flowchart provides a framework to consider all relevant aspects around the choice for development of a guidance document or CPG. Although it results from the Dutch national situation and the rare disease field, it may also be applied in other countries and for more prevalent diseases. We encourage external validation and, if necessary, refinement of the flowchart. It supports strategic decision-making, ensuring that the efforts and resources needed for the development of CPGs or other guidance documents are focused on areas where they will have the greatest impact on medical specialist care.