UK: Rare diseases economic burden ten times that of common diseases
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UK: Rare diseases economic burden ten times that of common diseases – study 


According to a new study by Chiesi Global Rare Diseases working in conjunction with IQVIA, the economic burden of rare diseases is around ten times higher than for common “mass market diseases” on a per patient, per year (PPPY) basis. The study looks at the direct, indirect and mortality-related costs of 24 rare diseases across five therapeutic areas (eg Fabry’s disease, acute intermittent porphyria, juvenile idiopathic arthritis, Fragile X syndrome and Duchenne muscular dystrophy), to evaluate the burden of care when treatment is available versus when no treatment exists, and compared these costs to common diseases such as diabetes, Alzheimer’s disease, cancer and back pain.  

Key findings include: 

  • For the 24 rare diseases considered, the total cost to society was $125 billion with an average overall cost of $266,000 PPPY compared to $26,000 for the mass market diseases. 
  • Overall, the burden of rare diseases was driven by direct costs (eg costs of prescription drugs, medical procedures, physician visits) and mortality costs (based on value of statistical life and the difference between average life expectancy and that for people with a rare disease). Indirect costs (eg loss of productivity, travel and accommodation for medical visits) accounted for the smallest proportion of the cost burden for rare diseases. The highest burden was posed by metabolic diseases ($334,000 PPPY) and neurological disorders ($317,000 PPPY). 
  • A lack of treatment for a rare disease is associated with a 21.2% increase in total PPPY costs. The percentage increases ranged from a 2.2% increase for congenital diseases to 51.8% for metabolic diseases. Access to treatment shifts the burden from indirect and mortality costs to direct costs which are more likely to be financed by private and public payers, notes the report. 
  • Extrapolating the cost for 8.4 million patients in the US impacted by 373 rare diseases modelled as part of the analysis, the overall cost of rare diseases in the US is $2.2 trillion per year.  

According to the study, the findings justify investment in diagnostic tools and new-born screening to ensure wider access to treatment. Furthermore the authors conclude that the findings “support the view that the development of safe and effective treatments for rare diseases generates substantial value for society”.   


  2. www.pharmaphorum, “Rare diseases have tenfold higher impact on healthcare costs; study”, 28th February 2022 
  3., “The Burden of Rare Diseases: An Economic Evaluation”, February 2022 

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