Methodology for production of best practice guidelines for rare diseases

Thomas Sejersen, Cinzia Del Giovane, Graziella Filippini, Carlo Giacomo Leo, Joerg J Meerpohl, Pierpaolo Mincarone, Silvia Minozzi, Sabina Saverio, Schünemann Holger, Juliette Senecat, Domenica Taruscio, RARE-Bestpractices consortium


Best practice guidelines for clinical management have increasingly become useful tools for patients and health care professionals in several disease areas. This is the case not least in the area of rare diseases, where scarcity of expertise is a well known and far too common cause of late or wrong diagnosis and care. However, in order for clinical guidelines to be useful and trustworthy, they must adhere to principles of how they are developed and updated, including a basis of best available evidence. Because of the potential great importance of well made best practice guidelines for rare diseases, we here describe work within the RARE-bestpractices EU project aim to address this topic by i) delineate the current state of existing best practice guidelines, as well as processes and tools for developing, updating, and adapting guidelines in the field of rare diseases, ii) define and agree on methodological quality standards for best practice guidelines on rare diseases, iii) develop pilot best practice guidelines for a specific rare condition, implementing the agreed methodological quality standards and iv) to develop a graphical representation of the sequence of activities in best practice guidelines, which are useful for helping in understanding key steps, for allowing a faster development of information systems supporting the enactment of the modeled process, and for monitoring the effectiveness, efficiency and equity of the implemented guidelines.


rare diseases, care standards, clinical practice guideline, methodology, evidence-based medicine, GRADE, quality-of-care, process-oriented Health Information Systems


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