Genomic testing is a highly accurate method of diagnosing mitochondrial disease (mito). It has the potential to eliminate the need for invasive and painful testing methods, including muscle and liver biopsies. Until now, implementation of genomic testing has been uncoordinated, with its use differing across states, leading to inefficient health outcomes and unnecessary costs. Currently, there is limited evidence for genomic testing to be included in a federal health policy.


Project Overview

Next generation sequencing, a form of genomic testing, will be performed on patients with suspected mito who are participating in the study. The project will compare genomic testing methods to current diagnostic methods to determine its cost effectiveness and efficacy and will form the evidence base for nationwide implementation.



To compare the effectiveness and benefits of genomic testing compared to current testing methods for mito.
To determine if genomic testing is a cost effective diagnostic tool.
To address issues of poor access to, and the uncoordinated implementation of, genomic testing in Australia.



Genomic testing is faster and more accurate than current diagnostic methods. It can prevent patients from having to undergo months, if not years, of painful, invasive, risky and often inconclusive tests, and experiencing significant emotional and financial stress. Gaining an earlier diagnosis enables patients to access specialist medical care sooner and can result in improvements to their quality of life.

Determining the efficacy and cost effectiveness of genomic testing will assist in convincing the government to make this testing standard across the Australian health system, providing the same opportunity to patients regardless of geographical location.

Lead Investigators


Professor John Christodoulou

Professor Christodoulou is the Head of the Neurodevelopmental Genomics Research Group at Murdoch Childrens Research Institute and Chair of Genomic Medicine in the Department of Paediatrics at Melbourne University. He is currently the Chair of the Mito Foundation Scientific and Medical Advisory Panel, and is a founding director of the Mito Foundation.

Professor David Thorburn

Professor David Thorburn

Professor Thorburn is the Theme Director of Genetics and Group Leader of Mitchondrial Research at the Murdoch Childrens Research Institute. He is a member of the Mito Foundation Nominations Committee, the Deputy Chair of the Mito Foundation Scientific and Medical Advisory Panel and a founding director of the Mito Foundation.

If you are interested in participating in the project, click here.