Article type
Abstract
Background: Providing and accessing evidence-based care is challenging for healthcare providers and individuals dealing with rare diseases. Clinical practice guidelines (CPGs) for such rare conditions may help meet information needs and improve healthcare; yet, their development can be challenging due to scarce published evidence, limited resources, and small expert groups. Considering the significant resources required for CPG development, it is important to carefully select their topics. The prioritization of guideline topics is a particular challenge given the wide range of (ultra)rare conditions and shared health problems covered by the European Reference Network (ERN) ITHACA (Intellectual disability, TeleHealth, Autism and Congenital Anomalies).
Objectives: We aim to establish criteria for the priority-setting of the development of new CPGs, based on input from relevant stakeholders in the field of rare genetic neurodevelopmental disorders and malformation syndromes, which include patient advocates, clinicians, and guideline methodologists.
Methods: Initial sets of prioritization criteria were distilled from literature and discussions at the ERN-ITHACA annual board meeting. These premature sets of criteria were edited following internal feedback from the network’s Executive Committee and Patient Advisory Board. Subsequently, all stakeholders were invited to comment on and rate the importance of these potential criteria through a survey in November-December 2023. A Delphi consensus study to conclusively select a set of final priority-setting criteria with a panel of experts from the involved stakeholder groups is currently ongoing.
Results: Results are estimated to be available in Summer 2024.
Future prospects: Through this work, ERN-ITHACA aims to support a new prioritization strategy for rare disease CPG development that is transparent and ensures the relevance of its guideline development efforts to healthcare professionals and affected individuals and families.
ERN-ITHACA Grant Reference: EU4Health Grant Agreement Nr. 101085231.
Objectives: We aim to establish criteria for the priority-setting of the development of new CPGs, based on input from relevant stakeholders in the field of rare genetic neurodevelopmental disorders and malformation syndromes, which include patient advocates, clinicians, and guideline methodologists.
Methods: Initial sets of prioritization criteria were distilled from literature and discussions at the ERN-ITHACA annual board meeting. These premature sets of criteria were edited following internal feedback from the network’s Executive Committee and Patient Advisory Board. Subsequently, all stakeholders were invited to comment on and rate the importance of these potential criteria through a survey in November-December 2023. A Delphi consensus study to conclusively select a set of final priority-setting criteria with a panel of experts from the involved stakeholder groups is currently ongoing.
Results: Results are estimated to be available in Summer 2024.
Future prospects: Through this work, ERN-ITHACA aims to support a new prioritization strategy for rare disease CPG development that is transparent and ensures the relevance of its guideline development efforts to healthcare professionals and affected individuals and families.
ERN-ITHACA Grant Reference: EU4Health Grant Agreement Nr. 101085231.