Patients, their biological relatives and reproductive partners can now use the Medicare-subsidised mitochondrial genomic tests to get a more definitive diagnosis earlier, allowing for better patient care and quality of life.
Mitochondrial diseases are the commonest group of heritable metabolic disorders. Mitochondria produce the majority of cellular energy and impaired mitochondrial function may cause multi-organ disruption. About 1 in 200 people are at risk of developing mitochondrial disease.
Genetic testing eliminates an often long and arduous diagnostic journey, and allows for more appropriate, accessible and targeted management, while informing reproductive planning. The new Medicare rebate for carrier screening means families do not have to go through losing a child to discover their risk of passing on a rare condition.
This milestone follows the Department of Health and Aged Care’s Medical Services Advisory Committee’s (MSAC) endorsement in February of an application for the approval of whole genome sequencing for use in diagnosing primary mitochondrial disease, which was prepared by the Mito Medical Network with GenIMPACT, NeuRA, Royal North Shore Hospital and The Children’s Hospital at Westmead.
The GenIMPACT team, headed by Professor Deborah Schofield, focuses primarily on the potential of genomics and similarly path-breaking innovations that improve human health, where these advances have significant impacts on the economy and society.
“The Medicare support for diagnosis of mitochondrial disease is an example of the important role that economics plays in providing evidence and obtaining funding for cost-effective medical breakthroughs,” Professor Schofield says.
“Our team undertook primary data collection and developed the economic model to assess the economic impacts of mitochondrial disease and cost effectiveness of genomic sequencing, taking into account how a molecular diagnosis led to targeted treatment.
“GenIMPACT was established to undertake the pioneering research that underpins just these types of breakthroughs and we are proud of our joint work with Dr Karen Crawley and the Mito Medical Network, Professor Carolyn Sue and her team at NeuRA and Royal North Shore Hospital, and Dr Shanti Balasubramaniam at The Children’s Hospital at Westmead, to make this happen.”
