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

Patrizio Armeni,Entela Xoxi,Yllka Kodra,Marianna Cavazza,Domenica Taruscio

doi:10.3390/ijerph18031101

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.

Highlights

In recent years, the peculiarities of evaluations and decisions surrounding the pricing and reimbursement of therapies for rare diseases (RDs) have been in the spotlight of academic debate and discussions among clinicians, health economists, and policymakers.The quality of scientific evidence is often lower than that required or expected by regulatory, Health Technology Assessment (HTA) bodies and payer authorities
In order to exemplify how the burden’s distribution has changed over the last fifteen years, we identified four examples of RDs to support our observation: Hemophilia, Fragile X syndrome, Cystic Fibrosis, and Juvenile Idiopathic Arthritis, representing a broad spectrum of RDs
Even if our goal is not a systematic review of the literature or a meta-analysis, we considered those items of the PRISMA checklist concerning data items and their source, collection, measurement, and processing in all studies published during the period 2004–2019 focused on socioeconomic evaluation of RD examples, applying a societal perspective of cost of illness methods [7]

Summary

Introduction

The peculiarities of evaluations and decisions surrounding the pricing and reimbursement of therapies for rare diseases (RDs) have been in the spotlight of academic debate and discussions among clinicians, health economists, and policymakers. The quality of scientific evidence is often lower than that required or expected by regulatory, Health Technology Assessment (HTA) bodies and payer authorities. Treatments (very often orphan medicinal product, OMPs) for RDs are in most cases offered at a price deemed high by national authorities (payers and providers), especially if compared to the apparently modest clinical benefit characterizing a substantial number of OMPs. In other words, by using the standard set of methods and decisional approaches, RD treatments (RDTs) are likely to appear as low value for money. Many countries have adopted integrative policies to mitigate the influence of strictly evidence-based decision-making approaches (i.e., standard HTA approaches)

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