Jason Shourick1, Maxime Wack2, Anne-Sophie Jannot2,3. 1. Department of Medical Informatics, Hôpital Européen Georges Pompidou, AP-HP, 20 Rue Leblanc, 75015, Paris, France. jason.shourick@aphp.fr. 2. Department of Medical Informatics, Hôpital Européen Georges Pompidou, AP-HP, 20 Rue Leblanc, 75015, Paris, France. 3. INSERM, Centre de Recherche des Cordeliers, UMRS 1138, Université de Paris, Université Sorbonne Paris Cité, Paris, France.
Abstract
INTRODUCTION: Estimating the prevalence of diseases is crucial for the organization of healthcare. The amount of literature on a rare pathology could help differentiate between rare and very rare diseases. The objective of this work was to evaluate to what extent the number of publications can be used to predict the prevalence of a given pathology. METHODS: We queried Orphanet for the global prevalence class for all conditions for which it was available. For these pathologies, we cross-referenced the Orphanet, MeSH, and OMIM vocabularies to assess the number of publication available on Pubmed using three different query strategies (one proposed in the literature, and two built specifically for this study). We first studied the association of the number of publications obtained by each of these query strategies with the prevalence class, then their predictive ability. RESULTS: Class prevalence was available for 3128 conditions, 2970 had a prevalence class < 1/1,000,000, 41 of 1-9/1,000,000, 84 of 1-9/100,000, and 33 of 1-9/10,000. We show a significant association and excellent predictive performance of the number of publication, with an AUC over 94% for the best query strategy. CONCLUSION: Our study highlights the link and the excellent predictive performance of the number of publications on the prevalence of rare diseases provided by Orphanet.
INTRODUCTION: Estimating the prevalence of diseases is crucial for the organization of healthcare. The amount of literature on a rare pathology could help differentiate between rare and very rare diseases. The objective of this work was to evaluate to what extent the number of publications can be used to predict the prevalence of a given pathology. METHODS: We queried Orphanet for the global prevalence class for all conditions for which it was available. For these pathologies, we cross-referenced the Orphanet, MeSH, and OMIM vocabularies to assess the number of publication available on Pubmed using three different query strategies (one proposed in the literature, and two built specifically for this study). We first studied the association of the number of publications obtained by each of these query strategies with the prevalence class, then their predictive ability. RESULTS: Class prevalence was available for 3128 conditions, 2970 had a prevalence class < 1/1,000,000, 41 of 1-9/1,000,000, 84 of 1-9/100,000, and 33 of 1-9/10,000. We show a significant association and excellent predictive performance of the number of publication, with an AUC over 94% for the best query strategy. CONCLUSION: Our study highlights the link and the excellent predictive performance of the number of publications on the prevalence of rare diseases provided by Orphanet.
Authors: Francesca Gorini; Michele Santoro; Anna Pierini; Lorena Mezzasalma; Silvia Baldacci; Elena Bargagli; Alessandra Boncristiano; Maurizia Rossana Brunetto; Paolo Cameli; Francesco Cappelli; Giancarlo Castaman; Barbara Coco; Maria Alice Donati; Renzo Guerrini; Silvia Linari; Vittoria Murro; Iacopo Olivotto; Paola Parronchi; Francesca Pochiero; Oliviero Rossi; Barbara Scappini; Andrea Sodi; Alessandro Maria Vannucchi; Alessio Coi Journal: Front Pharmacol Date: 2022-05-16 Impact factor: 5.988
Authors: Simona D Frederiksen; Vladimir Avramović; Tatiana Maroilley; Anna Lehman; Laura Arbour; Maja Tarailo-Graovac Journal: Orphanet J Rare Dis Date: 2022-02-22 Impact factor: 4.123