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The economic and health impact of rare diseases: A meta-analysis

Sequeira, A.R., Mentzakis, E., Archangelidi, O. and Paolucci, F. (2021) The economic and health impact of rare diseases: A meta-analysis. Health Policy and Technology, 10 (1). pp. 32-44.

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Lack of medical and scientific knowledge on rare diseases (RD) often translates into limited research on them and a subsequent lack of understanding of their economic impact. This meta-analysis aims to fill this gap by evaluating the economic impact of RDs and exploring potential factors associated with the societal burden of RD.


Studies published between January 2010 and February 2017 were identified by searches in the PubMed platform. Thirty eligible studies were identified for inclusion, and nineteen studies were included in the meta-analysis and outcomes were explored. The cost categories include direct healthcare costs, direct non-healthcare formal costs, and direct non-healthcare informal costs. The patients’ health-related quality of life (QoL) dimensions examined include EQ-5D scores, VAS scores and Barthel index, and the carers’ utility outcomes include EQ-5d scores, VAS scores and Zarit scale. Random effects meta-regression models were used for modelling the impact of study and societal characteristics on cost.


Across all RDs, mean direct healthcare (DH) costs ($16,513) account for the majority of direct costs (mainly driven by drug costs), followed by mean direct healthcare informal (€15,557) and mean direct healthcare formal (€4,579) costs. Body system affected by the RD, Gross Domestic Product (GDP) per capita and public health expenditure in country of study were the most significant determinants in predicting cost. In regards to QoL outcomes, patients with musculoskeletal diseases seem to have the lowest quality of life across EQ-5D scores, VAS scores and Barthel index. The burden on caregivers seemed to be associated with Autoimmune, followed by Musculoskeletal and Respiratory conditions.


This meta-analysis highlights the significant burden of RDs on the health care system and explicitly provides evidence for the magnitude of this impact. Such estimates are necessary to further the debate on priority setting around RDs and their comparison with other chronic diseases. Nevertheless, the large degree of cost variability across RDs might suggest that the use of umbrella terms to raise awareness around RDs’ societal impact might not be warranted.

Item Type: Journal Article
Murdoch Affiliation(s): Murdoch Business School
Publisher: Elsevier
Copyright: © 2021 Fellowship of Postgraduate Medicine.
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