Mito Foundation is pleased to share the submission we made to the Medicare Services Advisory Committee regarding the importance of Medicare funding for genomic testing to help diagnose mitochondrial disease (mito). Thank you to the generous mito community members who shared their stories and perspectives with us.

 “This kind of advocacy is of huge benefit to the mito community,” says Mia Bell, member of the Mito Community Advisory Panel. “When I see the stories of people impacted by mito, parents and spouses in the one document it feels like our diagnostic journey is being seen.” Sean Murray, CEO of Mito Foundation adds “Medicare funding for genomic testing will unlock so much for the mito community. For those with an uncertain diagnosis of mito it will bring clarity. For those still going through the diagnostic odyssey it has the potential to reduce the time, risks and costs of this process. And on top of all this, genomic diagnosis is a key foundation for research into treatments and cures for mito.”

Improving access to genomic testing in Australia is important because research shows that whole genome sequencing is an effective way to confirm or rule out mito. A recent UK study showed that this type of testing found mito in many families where other types of tests did not. The study also showed that whole genome sequencing can uncover another disease that is causing mito-like symptoms.

The decision on including this testing in Medicare is likely to take at least 12 months. In the meantime, you can still discuss genomic testing with your health professionals as it may be available through hospital based genetics services in each state, depending on your circumstances.

It is an exciting time for access to genomic technologies for the Australian mito community. Medicare funding for pre-implantation genetic testing was recently announced.  Progress is being made for access to mitochondrial donation and reproductive carrier screening by Australian families.

If you would like more information about genetic and genomic testing for mito, please contact the Helpline. You can also read more about how Mito Foundation is driving change.