New MBS Items for Mitochondrial Disease genetic testing
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Seven new MBS items have been launched for mitochondrial genomic testing, starting Nov 1st 2023. This marks a major victory in the diagnostic odyssey of mitochondrial diseases (mito), as specialists can now offer nationally funded access to these ‘gold standard’ tests through Medicare. The introduction of mitochondrial genetic testing onto the Medicare Benefits Scheme (MBS) is a step closer into mainstream medicine, and a significant milestone that greatly benefits its patients, their relatives, and future reproductive partners.

Genomic sequencing plays a crucial role in confirming a mitochondrial disease diagnosis, enabling advancements in patient care and management. As stated in the MSAC 1675 document, an earlier and definitive genetic diagnosis can alleviate the stress experienced during the mito diagnostic odyssey. It allows for more targeted management pathways, avoids inappropriate treatments and investigations that can be costly and potentially harmful, informs reproductive planning, provides greater access to services and clinical trials, and improves the quality of life for patients and carers.

The Mito Medical Network (Dr Karen Crawley), Prof Carolyn Sue of NeuRA (previously RNSH-Royal North Shore Hospital), Dr Shanti Balasubramaniam (SCHN-Westmead), and Professor Deborah Schofield and A/Professor Rupendra Shrestha (Macquarie University), worked tirelessly for the mito community during the two-year application process. We deeply appreciate the letters of support from professional groups (ANZAN, RACP, RCPA, and HGSA), valued public submissions that included the voice of the mito community compiled and presented by the Mito Foundation, and the government teams who have shown great respect for the affected families in dire need of such testing.

As per every other MBS-approved service, the same rules apply, with all ‘eligible’ (i.e., Medicare registered) public patients receiving public inpatient and outpatient hospital services free of charge, based on their clinical need, and regardless of their geographical location. Private patients accessing their health insurance will meet costs as per other private patient fee structures, otherwise they can elect to be managed as a public outpatient to access genomic testing free of charge.

Laboratories unable to perform the requested genetic test should refer their sample(s) onto the appropriate accredited NATA lab, a similar process as per all other specialized testing. The introduction of these seven new items allows for ‘gold standard’ genomic testing (WGS, WES +/- mtDNA analysis, trio or singleton, and re-analysis as required) for patients, cascade testing for biological relatives, reproductive partner screening, and any necessary additional mitochondrial deletion testing.

Despite the comprehensive approach, mitochondrial disease remains inherently complex, and not all patients may be able to obtain a confirmatory diagnosis. Therefore, it is recommended to refer patients to an experienced mitochondrial specialist, not just for ongoing management, but to also assess those seeking a diagnostic review.

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