Evaluation of the Societal Burden of Rare Diseases in the United States

Abstract

BackgroundMost patients with rare diseases have no effective treatment or cure available to them. However, scarcity of data and disease complexity mean the full extent of the patient, family and social burden of rare diseases remains undocumented. Understanding the cost drivers and the economic impact that a lack of treatment poses is critical for highlighting the unmet need to inform future investments and policymaking.MethodsWe selected five priority therapeutic areas (TAs; metabolic, neurological, congenital, hematological and immunological) encompassing 227 well documented rare diseases. Discussions with patients and physicians identified the 24 most relevant (highest unmet need) diseases within the five TAs. We assessed direct (costs associated with medical care), indirect (costs related to productivity losses) and mortality (costs associated with loss of life) costs. We also assessed these costs for 24 chronic mass-market (MM) diseases. Based on the overall cost burden per patient per year (PPPY) for the rare diseases, a scenario analysis was conducted to assess the average cost if treatments were not available. Lastly, the findings from the initial 24 rare diseases were extrapolated to 227 rare diseases in the five TAs. ResultsThe average cost burden of the 24 diseases analyzed ranged from $121 000 to $334 000 PPPY compared with $26 000 PPPY for MM diseases. Averaging across selected rare diseases, lack of treatment was associated with a 21.2% increase in total costs, from $198 000 to $240 000 PPPY. When these results were extrapolated to 227 rare diseases belonging to the five TAs, similar results were obtained: the average cost of rare diseases was approximately 10 times higher ($266 000 PPPY vs $26 000 PPPY) than for the MM diseases. ConclusionsOur findings demonstrate that rare diseases impose substantial economic burden, which remains high even when treatments are available. However, the cost composition shifts towards medical care and away from other types of burden. To the extent that new treatments provide clinical benefit for patients and their families, these shifts in burden are likely productive. Accelerated progress in the development of diagnostic methods, treatments and updated regulatory frameworks for rare diseases are recommended.

The epidemiology and healthcare burden of rare diseases requiring hospitalisation among adult patients in Langkawi, Malaysia: Insights from a pilot study

“…Rare diseases come with a substantial economic burden, with costs per patient per year (PPPY) being approximately ten times higher than mass-market diseases (US Dollars (USD) 266,000 PPPY versus USD 26,000 PPPY) (2). Orphan drugs are medicinal products designed to treat, prevent or diagnose rare diseases.…”