THE SOCIOECONOMIC AND QUALITY OF LIFE IMPACT OF LIVING WITH RARE DISEASE ACROSS ASIAN COUNTRIES
Author(s)
Rajini Jayasuriya, MSc1, Robin Durand, MSc2, Tim Wilsdon, MSc3, Angelina Petrova, MA4, Jessica Cremonese, MSc5, Nupook Suthisamphat, BA6.
1Charles River Associates International, Washington, DC, USA, 2Rare Diseases International, Paris, France, 3Charles River Associates International, London, United Kingdom, 4Charles River Associates, London, United Kingdom, 5Charles River Associates International, Munich, Germany, 6Charles River Associates International, New York, NY, USA.
1Charles River Associates International, Washington, DC, USA, 2Rare Diseases International, Paris, France, 3Charles River Associates International, London, United Kingdom, 4Charles River Associates, London, United Kingdom, 5Charles River Associates International, Munich, Germany, 6Charles River Associates International, New York, NY, USA.
OBJECTIVES: To provide the first cross-country assessment of rare disease (RD) impact across diverse Asian health systems. Evidence quantifying the socioeconomic burden of RDs in Asia remains limited, particularly across multiple conditions and countries and incorporating caregiver impact.
METHODS: A 2026 cross-sectional survey was conducted across Malaysia, Singapore, South Korea, Thailand, and Vietnam, covering 523 people living with 58 RDs (PLWRDs) and their caregivers, and 509 general population respondents. Healthcare and policy experts were interviewed to contextualise care pathways and system-level barriers, with patient advocacy groups engaged to ensure alignment with lived experience.
RESULTS: We estimate the per person per year impact of RDs to be $87,000, corresponding to a total excess of $63.8 billion (purchasing power parity (PPP)-adjusted). Of PLWRD costs, 52% were direct medical costs, 21% were direct non-medical costs (e.g., home modifications), 18% were indirect costs (e.g., absenteeism), and 9% were costs associated with premature mortality.
Diagnosis pathways are fragmented and inequitable: 34% of PLWRD were misdiagnosed at least once and consulted an average of four providers before receiving a correct diagnosis. Access to care is constrained by geographic barriers, 46% waited over three months for specialist care, with delays exceeding one year for some, and 12% travelling over 100 km for care. Affordability remains a barrier: 87% reported challenges accessing prescribed medications (insurance denials, long wait times), while healthcare-related out-of-pocket spending exceeded 70% of average income, reaching catastrophic levels.
Rare diseases disrupt families. Health-related quality of life is 24% lower among PLWRD compared to the general population, with productivity losses exceeding two months annually and substantial caregiver burden, with 75% reporting family stress.
CONCLUSIONS: RDs in Asia impose a multidimensional impact driven by delayed diagnosis, inequitable access, and financial hardship, highlighting an urgent need for system-level reforms to enable earlier diagnosis, strengthen financial protection, and expand access to treatment.
METHODS: A 2026 cross-sectional survey was conducted across Malaysia, Singapore, South Korea, Thailand, and Vietnam, covering 523 people living with 58 RDs (PLWRDs) and their caregivers, and 509 general population respondents. Healthcare and policy experts were interviewed to contextualise care pathways and system-level barriers, with patient advocacy groups engaged to ensure alignment with lived experience.
RESULTS: We estimate the per person per year impact of RDs to be $87,000, corresponding to a total excess of $63.8 billion (purchasing power parity (PPP)-adjusted). Of PLWRD costs, 52% were direct medical costs, 21% were direct non-medical costs (e.g., home modifications), 18% were indirect costs (e.g., absenteeism), and 9% were costs associated with premature mortality.
Diagnosis pathways are fragmented and inequitable: 34% of PLWRD were misdiagnosed at least once and consulted an average of four providers before receiving a correct diagnosis. Access to care is constrained by geographic barriers, 46% waited over three months for specialist care, with delays exceeding one year for some, and 12% travelling over 100 km for care. Affordability remains a barrier: 87% reported challenges accessing prescribed medications (insurance denials, long wait times), while healthcare-related out-of-pocket spending exceeded 70% of average income, reaching catastrophic levels.
Rare diseases disrupt families. Health-related quality of life is 24% lower among PLWRD compared to the general population, with productivity losses exceeding two months annually and substantial caregiver burden, with 75% reporting family stress.
CONCLUSIONS: RDs in Asia impose a multidimensional impact driven by delayed diagnosis, inequitable access, and financial hardship, highlighting an urgent need for system-level reforms to enable earlier diagnosis, strengthen financial protection, and expand access to treatment.
Conference/Value in Health Info
2026-09, ISPOR Asia Pacific 2026, Bangkok, Thailand
Value in Health, Volume 55, Issue S1
Code
EE104
Topic
Economic Evaluation
Topic Subcategory
Cost/Cost of Illness/Resource Use Studies, Novel & Social Elements of Value, Work & Home Productivity - Indirect Costs
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, SDC: Rare & Orphan Diseases