Improving the retrieval and dissemination of rare disease guidelines and research recommendations: a RARE-Bestpractices initiative

Michele Hilton Boon, Karen Ritchie, Jan Manson


Introduction: Guidelines on rare diseases (RD) are more likely to be produced by groups other than major guideline development organisations and therefore the retrieval and dissemination of guidelines on rare diseases will be more challenging than for more prevalent conditions. The EU-funded RARE-Bestpractices project includes the development of a collection of guidelines on rare diseases together with a complementary collection of research recommendations.  The basis for development of this collection is presented.
Methods: To test recall and yield we conducted systematic searches for a sample of RD reflecting a range of prevalence: Turner syndrome, Huntington’s disease, and Costello syndrome. Comparisons were made of the structure and contents of existing databases of guidelines and research recommendations.
Results: From sources searched only 15 English language guidelines were retrieved across the 3 test RDs. Searching of major guideline databases was not an effective strategy with the highest number of relevant results obtained through Google searches and pearl growing. Only two databases of research recommendations were identified, neither specific to RD.
Discussion: Existing resources do not allow for easy identification of RD guidelines and research recommendations. The resources being developed as part of the RARE-Bestpractices project are intended to meet this need.


guidelines, rare diseases, information retrieval, literature searching, search strategies, databases, collection development, research recommendations, uncertainties

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