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Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

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 (w...

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Autores principales: Pavan, Sonia, Rommel, Kathrin, Mateo Marquina, María Elena, Höhn, Sophie, Lanneau, Valérie, Rath, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242437/
https://www.ncbi.nlm.nih.gov/pubmed/28099516
http://dx.doi.org/10.1371/journal.pone.0170365
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author Pavan, Sonia
Rommel, Kathrin
Mateo Marquina, María Elena
Höhn, Sophie
Lanneau, Valérie
Rath, Ana
author_facet Pavan, Sonia
Rommel, Kathrin
Mateo Marquina, María Elena
Höhn, Sophie
Lanneau, Valérie
Rath, Ana
author_sort Pavan, Sonia
collection PubMed
description 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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spelling pubmed-52424372017-02-06 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database Pavan, Sonia Rommel, Kathrin Mateo Marquina, María Elena Höhn, Sophie Lanneau, Valérie Rath, Ana PLoS One Research Article 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. Public Library of Science 2017-01-18 /pmc/articles/PMC5242437/ /pubmed/28099516 http://dx.doi.org/10.1371/journal.pone.0170365 Text en © 2017 Pavan et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Pavan, Sonia
Rommel, Kathrin
Mateo Marquina, María Elena
Höhn, Sophie
Lanneau, Valérie
Rath, Ana
Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
title Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
title_full Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
title_fullStr Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
title_full_unstemmed Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
title_short Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
title_sort clinical practice guidelines for rare diseases: the orphanet database
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242437/
https://www.ncbi.nlm.nih.gov/pubmed/28099516
http://dx.doi.org/10.1371/journal.pone.0170365
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