Economic evaluation of genomic sequencing for the diagnosis of childhood mitochondrial disorders

A recent article by You Wu, A/Prof Ilias Goranitis and colleagues from Australian Genomics was published in the European Journal of Human Genetics. The study assessed the cost-effectiveness and cost-benefit of genomic sequencing for diagnosing pediatric-onset mitochondrial disorders compared with conventional care. Two modelling approaches were used, including a decision tree to model the diagnostic and long-term clinical management costs and diagnostic outcomes, and a discrete event simulation to incorporate heterogeneity in the condition and clinical practice. Both approaches were informed with primary clinical and economic data collected prospectively as part of the Australian Genomics Mitochondrial Disease clinical project and retrospectively through the Sydney Children’s Hospitals Network registry.

The study found that genomic sequencing was less costly and more effective compared with conventional diagnostic approaches involving biopsy and enzymology, saving AU$2000 to AU$9000 per child tested, while leading to an additional 11 to 14 diagnoses for every 100 children tested. Implementation of genomic sequencing for mitochondrial disorders in Australia could translate to an annual cost-saving of up to AU$0.7 million. As the first economic evaluation of genomic sequencing in this rare disease context, the findings have important implication for prioritizing genomic sequencing in children suspected with mitochondrial disorders.