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Mainstreaming genomic testing for mitochondrial disease in Australia.

Megan Ball1,2,3, Naomi Baker4, Sze Chern Lim4

  • 1Murdoch Children's Research Institute, Melbourne, VIC, Australia. megan.ball@mcri.edu.au.

European Journal of Human Genetics : EJHG
|February 26, 2026
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Summary

Publicly funded genome sequencing (GS) for mitochondrial disease in Australia shows promise, achieving a 20% diagnostic yield. Efforts are needed to improve access, especially in remote areas, for broader impact.

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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.