Genetic cancer drug targets, Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

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Principles of Molecular Diagnostics and Personalized Cancer Medicine

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.

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This article provides an analysis of selected CPGs by medical domain coverage, prevalence genetic cancer drug targets 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. Only open access CPGs and documents for which permission from the copyright holders has been obtained are disseminated on the Orphanet website.

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From January to JulyCPGs were disseminated, representing coverage of 1, groups of diseases, diseases or subtypes in the Orphanet database. A large proportion of diseases with identified CPGs belong to rare oncologic, neurologic, hematologic diseases or developmental anomalies. The Orphanet project on Anti paraziti intestinali collection, evaluation and dissemination is a continuous process, with regular addition of new guidelines, and updates.

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

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.

Introduction Clinical practice guidelines CPGs are "systematically developed statements to assist practitioners and patient decisions about appropriate health care for specific circumstances" [ 1 ].

Many CPGs have been developed in the last 25 years, as depicted in a recent review [ 2 ]. However most of them are aimed genetic cancer drug targets common diseases and recommendations dedicated to rare diseases RDs remain scarce.


In the European Union, a disease is considered as rare when it affects not more than 5 per 10, persons [ 3 ]. The rarity of randomised controlled trials puts a brake on the development of high quality guidelines for RDs, as well as the high development costs for funders who consider more prevalent diseases to be priority investment targets.

In spite of these hurdles, over the last few years the development and dissemination of CPGs for RDs has garnered increasing attention [ 4 — 6 ]. The contribution of CPGs to shortening papilom oral time to diagnosis and improvement of the quality of care is now widely acknowledged, and several European countries have included CPG development as a priority in their respective national plans on RDs [ 7 ].

Retrieving RD guidelines from Internet searches is sometimes challenging for health professionals and patients who genetic cancer drug targets not have the time or skills to search for the most relevant information [ 8 ]. Large national and international databases gathering CPGs are available [ 9 — 12 ] but they generally contain very few guidelines specific to RDs, which are difficult to find amongst the mass of recommendations available for more frequent diseases.

In addition, in the field genetic cancer drug targets RDs, a proportion of the guidelines produced by research networks, reference centres or other expert organisations is not published in international peer-reviewed journals, and thus is not retrieved from biomedical literature databases.

Alternatively, Google searches may help identify RD guidelines, but the specificity of the suggested results is very low [ 13 ]. To assess the quality of CPGs, several manuals have been published [ 1415 ].

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Despite the availability of appraisal handbooks, methodological quality remains variable [ 2141819 ] and needs to be verified. This might be even more important endometrial cancer osmosis RDs, as CPGs are sometimes developed by specialist groups who may not have the same resources as governmental bodies [ 2 ].

Methodologies for CPG development have been proposed that take into account some of the specificities of RDs, e.

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Orphanet is an international data resource dedicated to RDs that was created in to address the scarcity and fragmentation of information on RDs. Orphanet endeavours to provide genetic cancer drug targets community at large with a comprehensive set of information and data genetic cancer drug targets RDs and orphan drugs in order to genetic cancer drug targets to the improvement of the diagnosis, care and treatment of patients with RDs.

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Orphanet is currently the most comprehensive repertoire of information and data on RDs, notably in terms of referenced documents, and the only resource that establishes a link between a classification of RDs, textual information and the appropriate services for patients, researchers and healthcare professionals. This article describes the Orphanet workflow for the identification, evaluation and dissemination of CPGs on RDs, and provides an analysis of the resulting CPGs disseminated through Orphanet in terms of medical domain coverage, prevalence of diseases, languages and type of producer.

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Moreover, this study provides an insight into the variability in CPGs quality and availability, and shows the way these problems have been addressed in order to provide access to relevant, specific and good-quality recommendations for the management of RDs. Only documents developed by expert groups are selected.

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A global bibliographic survey on RD literature is performed as a continuous process using a list of selected medical journals, which allows a small number of CPGs to be retrieved. It genetic cancer drug targets completed by more specific bibliographic searches for guidelines and RDs on PubMed, Google and Google Scholar, each search engine often generating different and complementary search results. For certain diseases, websites of national and international databases, research networks, foundations, learned societies, governmental institutions and expert centres are browsed if applicable.

Pearl-growing using one resource to further identify other resources is also frequently used. Although the most frequent sources of information are in English and in other major European languages, no language restriction is genetic cancer drug targets.

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Documents older than 5 years are not considered unless recent publications clearly state that they are still up-to-date.

Preferably, recommendations less than three years-old are selected.