'We are the engine': a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability

BACKGROUND: Individuals living with rare congenital malformations and/or intellectual disability often face challenges in accessing appropriate healthcare. Clinical practice guidelines (CPGs) may serve as a tool to provide evidence-based care for rare diseases, but their development is complex, and the views of affected individuals and families often remain unknown. METHODS: Patient advocates of the European Reference Network ITHACA (Intellectual disability, TeleHealth, Autism and Congenital Anomalies) participated in focus groups in which their experiences with and perspectives on CPG use and development were discussed. RESULTS: Patient advocates considered CPGs relevant to address information and care needs and support advocacy efforts. Important characteristics included representation of heterogeneity within conditions, a holistic approach in which and how topics are addressed, user-friendly availability for individuals and families, and reliability of information. Guideline development and implementation were described as challenging, iterative processes in which effective partnership between clinicians, patient advocates, and other stakeholders is essential. CONCLUSIONS: Understanding the perspectives of patient advocates is essential to develop CPGs that meet the life-long and complex care needs of individuals and families living with rare conditions. Identified challenges include balancing the urgency of information needs with thorough guideline development processes, as well as the integration and interpretation of different types of knowledge.