The economic burden of rare diseases based on direct, indirect, and mortality-related costs is 10 times greater than the burden for mass market diseases, such as diabetes and cardiovascular disease, and this burden increases when no treatment is available.
The authors studied the direct, indirect, and mortality-related costs for 24 rare diseases across 5 therapeutic areas: metabolic disorders, hematologic 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 vs when no treatment exists.
“Scarcity of data and disease complexity mean the full extent of the patient, family, and social burden of rare diseases will likely remain undocumented,” the authors explained.
First, they generated a database of 373 rare diseases that cover 8.4 million patients in the United States, then reviewed more than 500 articles and lists and identified top priority areas through discussions with physicians and experts. The 5 therapeutic areas encompass 227 well-documented rare diseases. Conversations with patient advocacy groups and physicians led to the 24 more relevant rare diseases in the priority therapeutic areas.
The 24 rare diseases impact more than 500,000 people in the United States. There were 24 chronic mass-market diseases, such as diabetes, cardiovascular disease, and Alzheimer disease, that 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 comprised productivity costs for patient and caregiver, work loss, home changes, cost of secondary treatments, and travel and accommodation. Mortality costs were calculated as the value of statistical life, or $130,000 per year (aka $10.3 million for a 79-year average lifespan in the United States).
The authors found that the total cost to society for the 24 rare diseases was $125 million, and the average overall economic burden per patient per year (PPPY) was $266,000 (range, $121,000-$334,000. The overall economic burden is approximately 10 times the cost associated with mass market diseases ($26,000 PPPY).
Among the rare diseases, hematology had the largest proportion of direct costs (74%) while congenital diseases had the lowest proportion (47%). However, congenital diseases had the largest proportion of indirect costs (43%) and hematology had the smallest (4%). Neurological diseases had the highest proportion of mortality costs (43%) vs only 9% for congenital diseases.
Among the mass-market diseases, indirect costs accounted for 61% of the overall cost while direct costs accounted for 26% and mortality costs for 13%.
In the scenario analysis of costs when treatments are not available, the authors found total costs PPPY increased 21.2%, ranging from just 2.2% for congenital diseases to 51.8% for metabolic diseases.
This 21.2% increase breaks down to:
“Importantly, across all the therapeutic areas assessed, access to treatment effectively shifts the burden relating to indirect and mortality costs into direct costs (treatment and other direct costs),” the authors wrote. “These costs are more likely to be financed by private and public payers.”
When no treatments are available, there is an increase in productivity loss for patients and caregivers, highlighting the substantial value for society when there is access to rare disease treatments.
The authors noted that the study highlights the needs for policy makers to ensure continued innovation for rare disease therapies based on the positive economic return. There is also justification to increase the government’s investment in diagnosis and newborn screening, they said.
“Policy makers must recognize the distinct characteristics of developing and commercializing rare disease treatments and that the value assessment for rare disease treatments greatly differs from mass market diseases,” the authors conclude. “Policy changes should be specific to the unique nature of rare disease drug development.”
Andreu P, Karam J, Child C, Chiesi G, Cioffi G. The burden of rare diseases: an economic evaluation. Chiesi Global Rare Diseases. Accessed February 28, 2022. https://chiesirarediseases.com/assets/pdf/chiesiglobalrarediseases.whitepaper-feb.-2022_production-proof.pdf