Rare diseases are estimated to impact around 300 million people globally. The burden of rare diseases presents a global challenge by imposing significant socio-economic burden on healthcare systems, patients, and their families worldwide. Specifically, rare diseases pose numerous difficulties, including:
In addition, patients & caregivers often face significant emotional and psychological stress, isolation, alongside the burden of navigating complex healthcare systems to name but a few challenges.
The Economic Burden
A recent white paper analysis by the Chiesi group, highlighted that the per-patient per-year (PPPY) cost of rare diseases is about ten times higher than that of more prevalent diseases. In the US 8.4 million patients are affected by 373 rare diseases with the annual cost estimated at around $2.2 trillion. Extrapolating these findings further suggests that the societal cost for all known rare diseases could range between $7.2 trillion and $8.6 trillion per year. To assess economic burden, costs are often split into direct medical, direct non-medical, indirect, and mortality costs for the economic burden calculation (breakdown below).
The Impact of Treatment Availability
One critical finding of the report was the impact that treatment availability has on the economic burden. When treatments are available, direct costs, including those for prescription drugs and medical procedures, become more substantial, but indirect and mortality costs decrease significantly. Without treatment, total costs increase by 21.2% PPPY, highlighting that developing treatments in rare diseases can have substantial impact reducing the overall burden on patients and society.
Psychological and Social Impact
Beyond the direct economic implications, rare diseases also exert a profound psychological and social toll. Patients often face prolonged diagnostic journeys, with many diseases remaining undiagnosed or misdiagnosed for years. The delays in diagnosis and often, limited management once diagnosed, can lead to significant reduction in quality of life. A systematic review by Angelis et al. 2014 highlighted that living with a rare disease is associated with substantial psychological and social impact, including isolation, anxiety, and depression. In addition, the burden on caregivers, who often need to reduce their working hours or quit their jobs to provide care, further exacerbates these challenges.
Policy Implications and Recommendations
Addressing the socio-economic burden of rare diseases requires a multi-faceted approach involving policy reforms, increased investment in research and development, and improved access to care. Policymakers must recognize the unique nature of rare diseases and prioritize efforts to facilitate early diagnosis through new-born screening programs and advanced diagnostic tools. Enhancing incentives for drug development, and maintaining its applicability to multiple indications, can stimulate investment in new therapies.
Further work needs to be done in fostering an ecosystem with collaboration between pharmaceutical companies, research agencies, academic institutions, patient advocacy groups, and regulatory bodies. By doing so, the development of safe and effective treatments for rare diseases can be accelerated, ultimately generating substantial value for society by reducing the economic and social burdens associated with these conditions.
Conclusion
The socio-economic burden of rare diseases is vast and multifaceted, affecting millions of individuals and their families. The high costs associated with inefficient diagnosis and non-existent management options underscore the need for significant investment in treatment development, policy reforms to support early diagnosis and ensuring access to care. By addressing these challenges, society can alleviate the socio-economic burden and improve the quality of life for those affected by rare diseases, ensuring that they receive the care and support they deserve.
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Referenced Articles:
Angelis A, Tordrup D, Kanavos P. Socio-economic burden of rare diseases: A systematic review of cost of illness evidence. Health Policy. 2015 Jul;119(7):964-79. doi: 10.1016/j.healthpol.2014.12.016. Epub 2014 Dec 30. PMID: 25661982.
Pedro Andreu, PhD; Jenny Karam, PharmD; Caroline Child, BSc; Giacomo Chiesi, MBA; Gina Cioffi, JD; The Burden of Rare Diseases: An Economic Evaluation. White Paper. 2022