GenImpact success for mitochondrial disease

The Department of Health and Aged Care’s Medical Services Advisory Committee (MSAC) recently endorsed an application for the approval of whole genome sequencing for use in diagnosing primary mitochondrial disease. The recommendation is now with the Department for consideration.

The submission process was a two-year endeavour led by the Mito Medical Network and researchers at the Centre for Economic Impacts of Genomic Medicine (GenIMPACT) at Macquarie University (Professor Deborah Schofield and Associate Professor Rupendra Shrestha), the University of Sydney Kolling Institute team at Royal North Shore Hospital (Professor Carolyn Sue), and The Children’s Hospital at Westmead (Dr Shanti Balasubramaniam).

Mitochondrial diseases are associated with genetic variations in either the mitochondrial DNA or the nuclear genome, affecting the ability of the cells’ power generators, the mitochondria, to create energy. They are the most common inheritable metabolic diseases in Australia, affecting about one in 200 people.

Currently whole genome sequencing is not routinely available for patients suspected of having mitochondrial disease, with few patients having access to this important but costly test.

GenIMPACT Inaugural Director, Professor Deborah Schofield, says mitochondrial disease can be particularly difficult to diagnose, as the disease often mimics other conditions.

“We hope this will improve health outcomes significantly for many patients,” Schofield says. “In some cases, it would represent the end of a diagnostic odyssey that has been decades long.

“Because it can take so long to get a diagnosis, patients are not only prevented from accessing the therapies and clinical trials that might help them, they may also be exposed to serious adverse reactions to inappropriate treatments.

“They can even pass on the disease to their children without realising it.

“GenIMPACT was established to do the research that underpins just these types of breakthroughs.”

The work doesn’t stop here, Dr Karen Crawley, Mito Medical Network Director, says: “The Mito Medical Network appreciates the support received from the MSAC and the Department of Health and Aged Care throughout the assessment process.

“The Network now looks forward to the next stage of implementing public funding, supporting equity of access to genomic testing for patients with mitochondrial disease.”

Read the full MSAC website announcement.