The Development of a Microsimulation Model (MitoMOD) to Estimate the Economic Impact of Mitochondrial Disease in Adults

Mitochondrial diseases (MITO) are serious and debilitating conditions, often multisys-temic and requiring life- long monitoring and treatment of symptoms to reduce the risk of a life-threatening episode or acute illness. The disease is caused by mutations either in the mitochondrial DNA (mtDNA) or nuclear DNA (nDNA), resulting in impaired production of cellular energy from the affected mitochondrial organelles. MITO closely resembles other conditions due to its wide clinical presentation and genetic heterogeneity. While mitochondrial diseases are relatively common serious conditions with likely large medical and social costs to patients, carers and government, there is no microsimulation model of the impacts of this condition. Further, there is relatively little data on the medical costs of mitochondrial diseases and almost no data on social costs. What data there is on health costs has serious limitations and costs may be significantly underestimated. We aim to address this gap with the development of a microsimulation model called MitoMOD to estimate the costs of mitochondrial diseases using a cohort of clinically diagnosed adult patients with mitochondrial diseases as the base population. In this paper, we describe the construction of MitoMOD which is designed to capture economic impacts on adults clinically diagnosed with mitochondrial diseases, their carer and government. To date, this is the first microsimulation model of its kind. from a cohort of clinically diagnosed adult MITO participants. We took a broad perspective antici-pating a large range of economic and social impacts of MITO occurring at the patient, family, health service, and whole- of- government level. Our microsimulation model can be used in future studies to report the health and social costs of MITO and to estimate the cost- effectiveness of whole genome sequencing (WGS) compared to current diagnostic tests.