Reflections on the Importance of Cost of Illness Analysis in Rare Diseases: A Proposal

Abstract

In the field of rare diseases (RDs), the evidence standard is often lower than that required by health technology assessment (HTA) and payer authorities. In this commentary, we propose that appropriate economic evaluation for rare disease treatments should be initially informed by cost-of-illness (COI) studies conducted using a societal perspective. Such an approach contributes to improving countries’ understanding of RDs in their entirety as societal and not merely clinical, or product-specific issues. In order to exemplify how the disease burden’s distribution has changed over the last fifteen years, key COI studies for Hemophilia, Fragile X Syndrome, Cystic Fibrosis, and Juvenile Idiopathic Arthritis are examined. Evidence shows that, besides methodological variability and cross-country differences, the disease burden’s share represented by direct costs generally grows over time as novel treatments become available. Hence, to support effective decision-making processes, it seems necessary to assess the re-allocation of the burden produced by new medicinal products, and this approach requires identifying cost drivers through COI studies with robust design and standardized methodology.

Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review

“…As mentioned earlier, the BURQoL-RD project in Europe used a similar approach regarding the costs taken into consideration but was limited to 10 rare diseases ( López-Bastida et al, 2016a ), while García-Pérez et al ( García-Pérez et al, 2021 ) report some diversity in the costs included in the studies they reviewed, all of them including direct medical costs in their analysis but only 60, 69 and 43% including respectively non-medical costs, loss of productivity and costs of informal care. As Angelis et al ( Angelis et al, 2015 ) and Armeni et al ( Armeni et al, 2021 ) point, there exists significant heterogeneity in the identification of costs associated with rare diseases, as well as in the methodologies used to do so. This in turn complicates comparison between studies.…”

“…In Europe, this could be explained by the selection of 10 diseases included in the BURQoL-RD project ( López-Bastida et al, 2016a ), which used a Delphi approach combined with a Caroll Diagram to select a representative set of rare diseases based on three criteria: prevalence, availability of effective treatment and need for care. The availability of COI studies being positively correlated to the existence of a treatment ( Armeni et al, 2021 ) and knowing that 95% of rare diseases currently do not have a treatment available ( Sequeira et al, 2021 ), it could be argued that a vast majority of conditions are thus left outside the scope of COI and that there is a need to go beyond the existence of a treatment to conduct COI studies to illustrate the true impact of rare diseases. The paucity of available treatments further emphasises the importance of adopting a holistic approach when investigating the impact of rare diseases to avoid leaving out of scope conditions for which there are no medical options but for which daily impacts remain high.…”

“…As Armeni et al ( Armeni et al, 2021 ) state, COI studies in rare diseases are still scarce in comparison to economic evaluations regardless of the perspective used. Despite increasing attention being paid to rare diseases and their impacts on society, healthcare systems and individuals, a review of the literature shows a main emphasis placed on economic features, with COI studies being the reference to define the burden of disease and influence political decisions.…”

Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study

“…Costs of illness studies are important in defining healthcare and research priorities for governments and biopharmaceutical companies 16 . However, such studies in rare diseases, including EB, are scant 17 ,.…”

“…[11][12][13][14][15] Costs of illness studies are important in defining healthcare and research priorities for governments and biopharmaceutical companies. 16 However, such studies in rare diseases, including EB, are scant. 17,18 A questionnaire-based study in 8 European countries in 2016 reported average annual care costs of €31,390 for all EB types.…”