P09.003.C GUIDELINES4RARE: an ERN ITHACA project to improve care for individuals with rare genetic disorders and intellectual disability: Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: Hybrid Posters

Background/objectives: Rare genetic disorders associated with intellectual disability (rare ID) have great impact on physical and psychosocial functioning, requiring lifelong and multidisciplinary care. To optimize care for individuals with rare ID, effective sharing and application of knowledge internationally is indispensable. Clinical practice guidelines bridge the gap between scientific evidence and clinical practice; yet, developing guidelines for this population remains challenging. Methods: With our partners of European Reference Network ITHACA, the European network on rare malformation syndromes and rare intellectual disability, we develop clinical practice guidelines for various genetic syndromes as well as shared comorbidities. Meanwhile, we conduct research to improve guideline methodology for rare disorders, with special attention to experiential knowledge of clinical experts and individuals and families living with rare ID. Results: Guidelines for the Phelan-McDermid and Rubinstein-Taybi syndromes are to be published in 2023; work is ongoing on a range of syndrome-specific guideline projects, as well as guidelines for transition of care, polyhandicap, and challenging behaviour. Through critical appraisal of existing guidelines and methodological guidance, as well as qualitative research among clinical experts and individuals and families living with rare ID, we aim to optimize our methodological approach for future guideline projects in rare disorders. Conclusion: Methodologically sound guideline development is needed to provide evidence-based medicine and improve health outcomes for individuals with rare ID. By providing a blueprint of good care, guidelines may contribute to health equity throughout Europe. Grant references: EU4Health Programme, Grant Agreement nr. 101085231.