The economic burden of rare diseases is 10 times higher than that of mass market diseases

The economic burden of rare diseases based on direct, indirect and mortality-related costs is 10 times greater than the burden of mass market diseases, such as diabetes and cardiovascular disease, and this burden increases when no treatment is not available.

Rare diseases impose a substantial economic burden which is compounded when a rare disease has no treatment, according to a new report from Chiesi Global Rare Diseases with the support of IQVIA.

The authors studied the direct, indirect and mortality-related costs for 24 rare diseases in 5 therapeutic areas: metabolic disorders, hematological disorders, immunological disorders, congenital disorders and neurological disorders. In addition to comparing the costs of these rare diseases to common diseases, they compared the burden of care when treatment is available versus when no treatment exists.

“The paucity of data and the complexity of the disease mean that the full extent of the burden of rare diseases on patient, family and society will likely remain undocumented,” the authors explained.

First, they generated a database of 373 rare diseases covering 8.4 million patients in the United States, then reviewed more than 500 articles and lists and identified priority areas through discussions with physicians and experts. The 5 therapeutic areas encompass 227 well-documented rare diseases. Conversations with patient and physician advocacy groups have led to the 24 most relevant rare diseases in priority therapeutic areas.

The 24 rare diseases affect more than 500,000 people in the United States. There were 24 mainstream chronic diseases, such as diabetes, cardiovascular disease and Alzheimer’s disease, which were used as benchmark comparisons.

Direct costs included prescription drugs, medical products, inpatient and outpatient hospitalization, home health care, professional services and administration. Indirect costs included patient and caregiver productivity costs, lost work, changes of residence, cost of secondary treatments, and travel and accommodation. Mortality costs were calculated as the value of statistical life, or $130,000 per year (or $10.3 million for an average lifespan of 79 years in the United States).

The authors found that the total cost to society of the 24 rare diseases was $125 million and that the overall average economic burden per patient per year (PPPY) was $266,000 (range $121,000 to $334,000). $). The overall economic burden is approximately 10 times the cost associated with mass market illnesses ($26,000 PPPY).

Among the rare diseases, hematology had the highest proportion of direct costs (74%) while congenital diseases had the lowest proportion (47%). However, congenital diseases had the highest proportion of indirect costs (43%) and hematology the lowest (4%). Neurological diseases accounted for the highest proportion of mortality costs (43%) against only 9% for congenital diseases.

Among mass illnesses, indirect costs represented 61% of the overall cost while direct costs represented 26% and mortality costs 13%.

In the scenario analysis of costs when treatments are not available, the authors found that total PPPY costs increased by 21.2%, ranging from only 2.2% for congenital conditions to 51.8% for metabolic diseases.

This 21.2% increase breaks down into:

  • $63,000 PPPY in direct costs with treatment versus $118,000 PPPY without treatment
  • $40,000 PPPY in indirect costs with treatment versus $73,000 PPPY without treatment
  • $36,000 PPPY in mortality costs with treatment versus $49,000 PPPY without treatment

“Importantly, across all therapeutic areas assessed, access to treatment effectively shifts the burden of indirect and mortality costs to direct costs (treatment and other direct costs),” the authors wrote. “These costs are more likely to be funded by private and public payers.”

When no treatment is available, there is an increase in lost productivity for patients and caregivers, underscoring the substantial value to society of access to treatments for rare diseases.

The authors noted that the study highlights the need for policymakers to ensure continued innovation for rare disease therapies based on positive economic return. There is also a case for increasing government investment in newborn diagnosis and screening, they said.

“Policymakers need to recognize the distinct characteristics of the development and commercialization of rare disease treatments and that assessing the value of rare disease treatments differs greatly from mass market diseases,” the authors conclude. “Policy changes must be specific to the unique nature of drug development for rare diseases.”


Andreu P, Karam J, Child C, Chiesi G, Cioffi G. The burden of rare diseases: an economic evaluation. Global rare diseases of Chiesi. Accessed February 28, 2022.

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