The University of Southampton
University of Southampton Institutional Repository
Warning ePrints Soton is experiencing an issue with some file downloads not being available. We are working hard to fix this. Please bear with us.

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

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

Objective: 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. Methods: 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. Results: 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. Conclusions: 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.

Cost, Economic impact, Meta-analysis, Quality of life, Rare diseases
2211-8837
32-44
Sequeira, Ana Rita
9b531622-b57d-4c72-a3c7-36dcc845f02c
Mentzakis, Emmanouil
c0922185-18c7-49c2-a659-8ee6d89b5d74
Archangelidi, Olga
0ac00a72-1e2a-4bc4-9fad-105801545611
Paolucci, Francesco
073b630d-7adc-41ee-b198-6b33bcacce6c
Sequeira, Ana Rita
9b531622-b57d-4c72-a3c7-36dcc845f02c
Mentzakis, Emmanouil
c0922185-18c7-49c2-a659-8ee6d89b5d74
Archangelidi, Olga
0ac00a72-1e2a-4bc4-9fad-105801545611
Paolucci, Francesco
073b630d-7adc-41ee-b198-6b33bcacce6c

Sequeira, Ana Rita, Mentzakis, Emmanouil, Archangelidi, Olga and Paolucci, Francesco (2021) The economic and health impact of rare diseases: A meta-analysis. Health Policy and Technology, 10 (1), 32-44. (doi:10.1016/j.hlpt.2021.02.002).

Record type: Article

Abstract

Objective: 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. Methods: 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. Results: 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. Conclusions: 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.

Text
Sequeira Mentzakis et al HPT pre-print - Accepted Manuscript
Restricted to Repository staff only until 4 February 2022.
Request a copy

More information

Accepted/In Press date: 4 February 2021
e-pub ahead of print date: 4 February 2021
Published date: March 2021
Additional Information: Publisher Copyright: © 2021 Fellowship of Postgraduate Medicine Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
Keywords: Cost, Economic impact, Meta-analysis, Quality of life, Rare diseases

Identifiers

Local EPrints ID: 448439
URI: http://eprints.soton.ac.uk/id/eprint/448439
ISSN: 2211-8837
PURE UUID: 0140f21a-c1cb-4c49-a904-a225d7739780
ORCID for Emmanouil Mentzakis: ORCID iD orcid.org/0000-0003-1761-209X

Catalogue record

Date deposited: 22 Apr 2021 16:43
Last modified: 26 Nov 2021 02:58

Export record

Altmetrics

Contributors

Author: Ana Rita Sequeira
Author: Olga Archangelidi
Author: Francesco Paolucci

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×