Genetic testing for mitochondrial disease (mito) has been added to the Medicare Benefits Scheme (MBS). From 1 November 2023, the Australian mito community can access a Medicare subsidy for genetic testing of mito. This is great step forward in the fight against mito and brings hope to the community.

Genetic testing can reduce the time taken to diagnose mito and is key in developing targeted treatments and prevention options.

Our CEO Sean Murray said “November 1 will go down as a historic day in the fight against mitochondrial disease. This brings great help to the mito community, and the result is a wonderful reward for the many people who have worked together to achieve this outcome,”

“Timely diagnosis is absolutely critical and that’s why Medicare funding for genetic testing is such an important step forward.

“This is a credit to the researchers, clinicians and mito community members who all contributed to this outcome.”

This milestone followed Australia’s Medical Services Advisory Committee (MSAC) recommendation that genetic testing for mito be funded by Medicare. Read the outcomes of the MSAC application here and Mito Foundation’s submission to MSAC here.

Thank you to the health professionals and researchers who contributed to this work, particularly teams from the Mito Medical Network, the Kolling Institute, Macquarie University and the Children’s Hospital at Westmead. Thank you also to researchers at Murdoch Children’s Research Institute for contributing their experiences and data.

Genetic testing can reduce the length and complexity of the diagnostic journey for mito and reduce the number of invasive tests needed for some people. Genetic testing can also support diagnosis of family members and access to reproductive options, including mitochondrial donation.

Medicare funding for whole genome sequencing for mito is a major milestone, but it does not immediately make genetic testing accessible to all people with symptoms of mito.

Accessing genetic testing in Australia is complex for many reasons:

Medicare funding is not used in all types of health services. Not all health services are allowed to order tests to be paid for by Medicare. For example, public hospitals do not use Medicare funding. Instead, they have their own policies and budgets that decide what tests are paid for by the hospital.

This type of testing is not available everywhere in Australia. Not all Australian laboratories offer whole genome sequencing of nuclear and mitochondrial DNA. There is likely to still be a gap between the cost of genetic testing and the amount Medicare pays. Mito Foundation is working with several Australian laboratories to encourage them to offer this testing and to bulk bill for this. You can view a list of providers of genetic testing for mito in Australia here.

This type of testing may not be the best fit for all people with symptoms of mito. For example, people with symptoms that suggest a certain type of mito may be better suited to a genetic test that looks for the most common gene changes known to cause that type of mito.

Gene testing does not always result in a genetic diagnosis. For many people who have symptoms of mito, a genetic test will not find a gene change that is known to cause mito. This may happen for around 40% of people who are tested. They might still have mito, but they cannot have this confirmed by a genetic test. Research projects around the world (including the mitoMDT project here in Australia) continue to find genes that cause mito. This means that in the future a gene change and subsequent testing may be identified that does cause their mito.

If you are interested in learning more about mito and genetics and accessing testing in Australia, visit this webpage. Alternatively, you can speak to someone from our Helpline by calling 1300 977 180.