The burden of mitochondrial disease: healthcare and societal costs

Objectives: To estimate the burden of mitochondrial disease by measurement of healthcare, societal, and lifetime costs of mitochondrial disease. Methods: We recruited patients aged 18 years or over with a clinical confirmation of mitochondrial disease and their carer from a mitochondrial disease referral center to complete a survey for our study. The survey responses and linked administrative data from the patients and carers were used in a microsimulation model to estimate the healthcare and societal costs of mitochondrial disease. Results: In total, 92.5% recruited agreed to participate in our study. We estimated total annual average costs at AU$ 112 721 per household. Of the total annual average costs, a large proportion were societal costs (92%). 4%, 10%, and 86% of societal costs were borne by the Commonwealth government, state government, and private out of pocket, respectively. In total, 8% of the total annual average costs were healthcare, with 61%, 9%, and 30% of the annual average health costs borne by the Commonwealth government, state government, and private out of pocket, respectively. We estimated the total lifetime cost of mitochondrial disease at AU$ 7.6 million per household and the national annual cost is estimated at AU$ 8.6 billion. Conclusions: Mitochondrial disease is an expensive condition with the majority of the costs comprising societal costs, with substantial costs borne privately out of pocket. The findings from this study can be used in other studies, such as cost-effectiveness analysis, to examine the benefits of interventions to treat or prevent mitochondrial disease.