EXCITING NEWS regarding Mito Diagnostics

[see also https://www.mq.edu.au/macquarie-business-school/news/genimpact-success-for-mitochondrial-disease]

There is wonderful news for patients with mitochondrial diseases, their families, carers and the medical community. The Medical Services Advisory Committee (MSAC) for The Department of Health and Aged Care has now published the MSAC Application 1675 Public Summary Document, supporting the use of genomic sequencing for the diagnosis of mitochondrial disease.

The use of genomic sequencing is not only essential to confirming a mitochondrial disease diagnosis, but “pivotal in the advancement of patient care and management”. As the document states, “an earlier and definitive genetic diagnosis will alleviate much of the patient stress experienced during the MD diagnostic odyssey”, allowing “for more targeted management pathways, avoid inappropriate treatments and investigations that can be both costly and potentially harmful, inform reproductive planning, provide greater access to services and clinical trials, and improvements in quality of life for patients and carers”.

The MitoMedicalNetwork (Dr Karen Crawley), SydneyUni (Kolling Institute) team at RNSH (Royal North Shore Hospital), and the GenIMPACT (Centre for Economic Impacts of Genomic Medicine) team at Macquarie University, and The Children’s Hospital, Westmead worked tirelessly on this application over the last two years. This is an important outcome for patients building directly on the collaborative research program between Kolling-RNSH (Professor Carolyn Sue), GenIMPACT, Macquarie University (Professor Deborah Schofield, and A/Professor Rupendra Shrestha), and The Children’s Hospital, Westmead (Dr Shanti Balasubramaniam).

Medical Services Advisory Committing official website announcement can be see at: http://msac.gov.au/internet/msac/publishing.nsf/content/1675-public.