Mainstreaming genomic testing for mitochondrial disease in Australia.

Area of Science:

• Genetics
• Genomic Medicine
• Clinical Diagnostics

Background:

• Genomic sequencing (GS) has revolutionized mitochondrial disease diagnosis, but clinical integration is hindered by access and funding barriers.
• Australia's Medicare Benefits Scheme (MBS) introduced publicly funded GS for mitochondrial disease in November 2023, aiming to increase testing accessibility.

Purpose of the Study:

• To evaluate the post-implementation impact of publicly funded genome sequencing (GS) for diagnosing mitochondrial disease in Australia.
• To assess test uptake, diagnostic yield, turnaround times, and identify areas for improved access.

Main Methods:

• A post-implementation evaluation of MBS-funded GS for mitochondrial disease was conducted.
• Test request data from November 2023 to May 2025, including demographics, phenotypes, and outcomes, were analyzed from a key laboratory provider.

Main Results:

• Test uptake was 26% of predictions, with lower rates in regional/remote areas.
• Over 19 months, 300 individuals underwent GS, yielding a 20% diagnostic rate (56% in known genes, 70% in mitochondrial DNA).
• Seventeen diagnoses were made in patients with prior non-diagnostic genetic testing.

Conclusions:

• Publicly funded GS can achieve significant diagnostic outcomes for mitochondrial disease nationally.
• Ensuring equitable access, particularly for underserved regions, and developing sustainable integration models are crucial for maximizing impact.