Making Rare Diseases Count 2026

Although comprehensive estimates remain limited, available data places the global collective cost of rare diseases in the trillions of dollars. A 2022 analysis estimated an annual cost of $7.2–8.6 trillion across all known rare diseases when accounting for direct medical expenses, mortality and indirect losses such as reduced workforce participation and disability accommodations.9 National and regional studies corroborate these figures (see Figure 6). In the United States, a 2021 study found that just 379 rare conditions generated nearly $1 trillion in annual costs.10 In Europe, a 2024 study estimated that 43 rare conditions imposed a combined impact of approximately €250 billion ($290 billion) annually across nine countries.11 Beyond North America and Europe, data is scarce. In Japan, a 2025 study found that 64 rare diseases imposed a total cost of JPY 9.9 trillion annually (approximately $62 billion).12 For most LMICs, no comparable estimates exist. Estimated annual economic impact of rare diseases FIGURE 6Direct and indirect impact of rare diseases across key stakeholder groups FIGURE 51.2 Reducing costs and unlocking economic gains Rare diseases generate financial strain across every part of society: families face high out-of- pocket expenses and lost income; health systems absorb the costs of diagnosis, treatment and long-term care; employers and payers contend with productivity losses and high claims; and governments bear the weight of social services and reduced tax revenues (see Figure 5). Patients and caregiversHealthcare systemsEmployers Payers Governments Quantitative factors Qualitative factors Source: Deloitte World United States Europe Japan All rare diseases $7.2–8.6 trillion379 conditions $1 trillion43 conditions in nine countries €250 billion64 rare diseases JPY 9.9 trillion Source: IQVIA and Chiesi Global Rare Diseases; EveryLife Foundation for Rare Diseases; Charles River Associates (The economic cost of living with a rare disease across Europe; The economic cost of living with a rare disease in Japan)Screening and diagnosis costs Treatment costs Care coordination costs Long-term and palliative care costsInsurance costs Employee turnover Workplace accommodation costs Absenteeism and presenteeismAvoidable medical expenses Claims processing costs Brand and reputationLost productivity Disability and social services costs Tax and budgetary impact Inequality and social cohesionOut-of-pocket costs Lost income due to disability/caregiving Years of life lost Quality of life Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity 9