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. 2021 Mar 20;16(1):139.
doi: 10.1186/s13023-020-01639-7.

Assessing rare diseases prevalence using literature quantification

Jason Shourick  1 , Maxime Wack  2 , Anne-Sophie Jannot  2   3
Affiliations

Assessing rare diseases prevalence using literature quantification

Jason Shourick et al. Orphanet J Rare Dis. .

Erratum in

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.

Keywords: Bibliometrics; Prevalence; Rare diseases.

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Conflict of interest statement

The authors declare no support from any organisation for the submitted work, no financial relationships with any organisations that might have an interest in the submitted work in the previous 3 years, no other relationships or activities that could appear to have influenced the submitted work.

Figures

Fig. 1
Fig. 1
ROC curves for each query strategy and each prevalence category. Footnote: QS Query strategy
See this image and copyright information in PMC

References

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