Utilisation d’un annuaire des services spécialisés et orientation dans le système de soins: l’exemple d’Orphanet dans les maladies rares

Nabarette, Hervé; Oziel, D.; Urbero, Bruno; Maxime, N; Aymé, Ségolène

doi:10.1016/s0398-7620(06)76693-7

Cited by 9 publications

(4 citation statements)

References 10 publications

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“…Il montre l'intérêt de la certification HON, pour ses critères, et parce qu'elle se trouve liée, pour les 8 sites étudiés, à la qualité du contenu. Les associations de patients ont souvent leur propre site, et identifient des sites liés à la maladie dont elles s'occupent [24]. Pour les internautes, le signal qualité apporté par la certification ne peut être que partiel.…”

Section: La Certification Répond-elle Au Besoin Du Chercheur D'informunclassified

Certification des sites dédiés à la santé en France

et al. 2009

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Section: La Certification Répond-elle Au Besoin Du Chercheur D'informunclassified

Certification des sites dédiés à la santé en France

et al. 2009

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“…Orphanet : une référence mondiale sur les maladies rares Orphanet, crée il y a dix ans sous la direction de S. Aymé (Inserm SC11), est devenu au cours des années une réfé-rence majeure sur les maladies rares [8]. Orphanet est un site Internet d'accès gratuit.…”

Section: Rappel Historiqueunclassified

Les maladies rares (ou orphelines): organisation générale de leur prise en charge en 2007

Lamoril

Bogard²,

Ameziane³

et al. 2007

Immuno-analyse & Biologie Spécialisée

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“…In the European Union (EU), a disease is declared as “rare “if no more than 5 out of 10,000 people are affected [ 1 ]. It is estimated that about 7000 different rare diseases (RDs) exist.…”

Section: Introductionmentioning

confidence: 99%

Diagnosis of Rare Diseases: a scoping review of clinical decision support systems

Schaaf

Sedlmayr

Schaefer

et al. 2020

Orphanet J Rare Dis

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Background Rare Diseases (RDs), which are defined as diseases affecting no more than 5 out of 10,000 people, are often severe, chronic and life-threatening. A main problem is the delay in diagnosing RDs. Clinical decision support systems (CDSSs) for RDs are software systems to support clinicians in the diagnosis of patients with RDs. Due to their clinical importance, we conducted a scoping review to determine which CDSSs are available to support the diagnosis of RDs patients, whether the CDSSs are available to be used by clinicians and which functionalities and data are used to provide decision support. Methods We searched PubMed for CDSSs in RDs published between December 16, 2008 and December 16, 2018. Only English articles, original peer reviewed journals and conference papers describing a clinical prototype or a routine use of CDSSs were included. For data charting, we used the data items “Objective and background of the publication/project”, “System or project name”, “Functionality”, “Type of clinical data”, “Rare Diseases covered”, “Development status”, “System availability”, “Data entry and integration”, “Last software update” and “Clinical usage”. Results The search identified 636 articles. After title and abstracting screening, as well as assessing the eligibility criteria for full-text screening, 22 articles describing 19 different CDSSs were identified. Three types of CDSSs were classified: “Analysis or comparison of genetic and phenotypic data,” “machine learning” and “information retrieval”. Twelve of nineteen CDSSs use phenotypic and genetic data, followed by clinical data, literature databases and patient questionnaires. Fourteen of nineteen CDSSs are fully developed systems and therefore publicly available. Data can be entered or uploaded manually in six CDSSs, whereas for four CDSSs no information for data integration was available. Only seven CDSSs allow further ways of data integration. thirteen CDSS do not provide information about clinical usage. Conclusions Different CDSS for various purposes are available, yet clinicians have to determine which is best for their patient. To allow a more precise usage, future research has to focus on CDSSs RDs data integration, clinical usage and updating clinical knowledge. It remains interesting which of the CDSSs will be used and maintained in the future.

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Utilisation d’un annuaire des services spécialisés et orientation dans le système de soins: l’exemple d’Orphanet dans les maladies rares

Cited by 9 publications

References 10 publications

Certification des sites dédiés à la santé en France

Certification des sites dédiés à la santé en France

Les maladies rares (ou orphelines): organisation générale de leur prise en charge en 2007

Diagnosis of Rare Diseases: a scoping review of clinical decision support systems

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