Study reveals mitochondrial disease costs nation $8.6 billion annually

A groundbreaking Australian study has revealed that mitochondrial disease, which affects approximately 1 in 250 Australians, places an enormous financial burden on impacted families, rather than the healthcare system.

The research, published in Value in Health journal, is the first comprehensive analysis of both healthcare and societal costs of mitochondrial disease in Australia, conducted by researchers from Macquarie University’s Centre for Economic Impacts of Genomic Medicine (GenIMPACT) and the Australian Mitochondrial Disease Centre, now located at Neuroscience Research Australia (NeuRA).

The study found that mitochondrial disease costs an average of $112,721 per household annually, with a staggering 92 per cent of these costs being societal rather than medical expenses.

“Societal costs include things like assistive technology–hearing aids, glasses, wheelchairs, and scooters–transport, welfare payments if individuals can't work, loss of income and basically everything impacted by this condition,” explains researcher Katherine Lim from Macquarie University.

Key Findings:

• Annual cost per household: $112,721

• National annual cost: $8.6 billion

• Lifetime cost per household: $7.6 million

• Estimated affected population: 77,000 Australians

• Societal costs: 92 per cent of total burden ($103,718 per household)

• Healthcare costs: Only eight per cent of total burden ($9,003 per household)

The research reveals that 86 per cent of societal costs are borne privately out-of-pocket by families, while only four per cent are covered by Commonwealth Government support and 10 per cent by state government assistance.

Mitochondrial disease is a group of rare genetic disorders that affect the body's ability to produce energy at the cellular level. It can affect any organ or tissue, particularly those with high energy demands like the brain, heart, and muscles.

“The findings from this study suggest that mitochondrial disease is an expensive condition with the majority of costs comprising societal costs with substantial costs borne privately out-of-pocket,” explains Lim.

The study's comprehensive approach sets it apart from previous research, which typically focused only on healthcare costs from a narrow perspective. The research team used a sophisticated microsimulation model called MITOMOD, incorporating survey responses from 99 patients and their carers, combined with linked administrative data from hospitals and Medicare.

Methodology Highlights:

• Participants recruited from Australia's largest mitochondrial referral clinic (now located at NeuRA)

• 92.5 per cent of approached patients agreed to participate

• Data linked to hospital records and Medicare claims for accuracy

• Costs calculated using 2021 Australian dollar values

The research has immediate practical applications. The Australian Government recently approved Medicare subsidies for genetic testing in suspected mitochondrial disease cases, based partly on data from this study, recognising it as both effective and cost-effective.

“Our findings will be useful for other studies, particularly where reliable, robust and comprehensive data is needed, such as cost-effectiveness analysis,” Lim said.

The study’s lifetime cost analysis reveals that carer and spouse lost income comprises the largest component at $3.7 million, followed by the patient's lost income at $1.4 million and welfare payments at $1.3 million.

About Mitochondrial Disease:

• Affects approximately 1 in 250 Australians

• Over 300 genetic variants known to cause the condition

• Symptoms vary widely, from diabetes to severe multi-system disorders

• Often misdiagnosed – patients see an average of eight doctors before correct diagnosis

• Currently no cure available

The research was supported by the National Health and Medical Research Council (NHMRC) and conducted in collaboration with the Kolling Institute, Royal North Shore Hospital, and Neuroscience Research Australia.