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. 2017 Jan 18;12(1):e0170365.
doi: 10.1371/journal.pone.0170365. eCollection 2017.

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

Sonia Pavan  1 , Kathrin Rommel  2 , María Elena Mateo Marquina  3 , Sophie Höhn  1 , Valérie Lanneau  1 , Ana Rath  1
Affiliations

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

Sonia Pavan et al. PLoS One. .

Abstract

Clinical practice guidelines (CPGs) for rare diseases (RDs) are scarce, may be difficult to identify through Internet searches and may vary in quality depending on the source and methodology used. In order to contribute to the improvement of the diagnosis, treatment and care of patients, Orphanet (www.orpha.net) has set up a procedure for the selection, quality evaluation and dissemination of CPGs, with the aim to provide easy access to relevant, accurate and specific recommendations for the management of RDs. This article provides an analysis of selected CPGs by medical domain coverage, prevalence of diseases, languages and type of producer, and addresses the variability in CPG quality and availability. CPGs are identified via bibliographic databases, websites of research networks, expert centres or medical societies. They are assessed according to quality criteria derived from the Appraisal of Guidelines, REsearch and Evaluation (AGREE II) Instrument. Only open access CPGs and documents for which permission from the copyright holders has been obtained are disseminated on the Orphanet website. From January 2012 to July 2015, 277 CPGs were disseminated, representing coverage of 1,122 groups of diseases, diseases or subtypes in the Orphanet database. No language restriction is applied, and so far 10 languages are represented, with a predominance of CPGs in English, French and German (92% of all CPGs). A large proportion of diseases with identified CPGs belong to rare oncologic, neurologic, hematologic diseases or developmental anomalies. The Orphanet project on CPG collection, evaluation and dissemination is a continuous process, with regular addition of new guidelines, and updates. CPGs meeting the quality criteria are integrated to the Orphanet database of rare diseases, together with other types of textual information and the appropriate services for patients, researchers and healthcare professionals in 40 countries.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. Methodological flow chart for CPG dissemination via Orphanet.
* indicates the mandatory criteria versus the desirable ones for which exceptions can be made depending on all the other criteria.
Fig 2
Fig 2. CPG distribution on Orphanet.
(A) Proportion of CPGs available by language, (B) CPG distribution by medical specialty and language.
Fig 3
Fig 3. Repartition among diseases of CPGs in different languages.
The Venn diagram representation shows the diseases covered by either one, two or three languages (English, French, German).
Fig 4
Fig 4. CPG distribution by type of publication medium and language.
Fig 5
Fig 5. CPG distribution by disease prevalence.
See this image and copyright information in PMC

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