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News & Trends - MedTech & Diagnostics

Genetic testing reimbursed for brain tumours and neuromuscular disorders

Health Industry Hub | July 3, 2023 |

MedTech & Diagnostics News: New pathology items for brain tumours and neuromuscular disorders have been listed on the Medicare Benefits Schedule (MBS) starting from July 1, 2023. This reimbursement update promises to revolutionise the diagnosis and treatment of these complex conditions, offering hope to patients and their families.

Brain cancer, while relatively rare in Australia, remains a formidable challenge, affecting approximately 6.5 individuals per 100,000. Approximately 40% of brain cancers will be a glioma, the most common tumour of the central nervous system. Sadly, the average five-year survival rate for individuals diagnosed with brain cancer stands at a meagre 22.3%.

The latest classification by the World Health Organisation (WHO) underlines the critical importance of molecular diagnostics in accurately diagnosing and classifying brain tumours. Identifying specific genetic markers like co-deletion of chromosome 1p/19q regions, IDH1/2 mutations, and MGMT promoter methylation plays a vital role in improving diagnosis accuracy and providing prognostic information for gliomas.

According to the Medical Services Advisory Committee (MSAC) application put forward by the Royal College of Pathologists of Australasia, the introduction of a comprehensive ‘glioma panel’ test not only streamlines workflow and reduces costs for pathology laboratories but also delivers significant benefits to patients. By minimising the size of required biopsies and shortening the time to diagnosis from an average of six weeks to just two weeks, this breakthrough offers faster and more accurate results. Such a timely diagnosis enables healthcare professionals to make informed decisions regarding therapeutic interventions, resulting in improved outcomes for at least 20% of patients.

Shifting focus to neuromuscular disorders (NMDs), which encompass a wide range of conditions, it becomes clear that accurate diagnosis is crucial for effective treatment. NMDs can be classified into four categories: muscle disorders like Duchenne muscular dystrophy, motor neuron disorders such as spinal muscular atrophies, neuropathies like Charcot-Marie-Tooth disease, and neuromuscular junction disorders. Many of these disorders manifest early in life and are associated with severe disabilities or life-threatening complications.

Historically, treatment options for NMDs were limited. However, recent advancements have introduced curative interventions and reduced morbidity and mortality rates. Crucially, many of these new treatments rely on establishing a definitive genetic diagnosis.

Due to the challenges of categorising NMDs accurately, comprehensive gene panel testing using next-generation sequencing (NGS) is considered the gold standard. By examining a broad range of genes, this approach maximises the chances of identifying causative variants and increases the diagnostic rate. It also eliminates the need for multiple downstream diagnostic tests, including invasive procedures like muscle or nerve biopsies, expensive imaging, and extensive blood and cerebrospinal fluid testing.

The implementation of panel testing for NMDs not only accelerates the diagnostic process, which previously averaged a staggering 7.7 years but also ensures that appropriate treatments can commence earlier. Moreover, a definitive molecular diagnosis allows for life-saving surveillance and referrals, especially for disorders with cardiac or respiratory components. For example, in cases like Pompe disease, where diagnosis in adults can be challenging, genomic diagnosis enables the initiation of Sanofi’s Nexviazyme (avalglucosidase alfa), an IV monotherapy that was TGA registered in November 2021 and is now funded through the Life Saving Drugs Program (LSDP). Similarly, detecting mutations in LMNA (Lamin A/C) facilitates close monitoring of cardiac rhythm to prevent sudden cardiac death.

The Royal College of Pathologists of Australasia, in their application to the MSAC, emphasised that “public funding of genetic testing for NMDs would provide equitable access to these crucial diagnostic services.” Otherwise, some patients resort to overseas laboratories, such as Invitaeb, at a significant cost of up to USD $1,500. However, these tests often include a limited number of genes, leaving many patients without a definitive diagnosis. Furthermore, the quality assurance processes of these foreign laboratories do not match the standards upheld by Australian NATA accredited facilities, leading to subpar outcomes and low ‘hit’ rates.

With advanced molecular testing techniques and comprehensive gene panels, healthcare professionals can now provide faster and more accurate diagnoses for brain tumours and NMDs, leading to improved patient outcomes. By eliminating the need for invasive procedures and reducing the time to diagnosis, this approach not only saves costs but also brings hope and relief to countless individuals and their families across the country.

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