Faster Diagnosis For Rare Diseases And Cancers

19 March 2016

More Victorians with genetic conditions will receive quicker diagnoses and better care thanks to the Andrews Labor Government’s $25 million investment in the state’s genomic sequencing capability project.

Minister for Health, Jill Hennessy, today announced the next five disease areas to be evaluated by the Melbourne Genomics Health Alliance, which will see 800 Victorians access genetic sequencing over the next two years.

The disease areas selected by the Alliance for the project’s second phase are:

  • Immune disorders where the immune system does not function normally
  • Dilated cardiomyopathy where the heart’s pumping function is reduced
  • Congenital deafness where hearing loss is present at birth
  • Infants and children with complex medical issues (some of whom are acutely unwell) where genomic sequencing will be offered as a first diagnostic test rather than after other testing options have been exhausted
  • Cancers of the lymphatic system and solid tumours to better target treatment for individual patients with advanced cancer

Patients with defects in their immune system are among the first to benefit from access to genomic sequencing within the Victorian health system as a result.

Many patients with rare immunology disorders undergo invasive and expensive clinical tests and treatments over long periods of time - in some cases up to 15 or more years – to determine the cause of their illness without receiving a diagnosis.

Genomic sequencing can speed up the diagnosis of rare conditions and inherited diseases, meaning patients can receive better care and potentially improved health outcomes.

Genetic testing is vital for prevention, diagnosis and management of genetic disorders, as people with specific genetic mutations can be more at risk of disease than the general population. It also means Victorians with heredity diseases will have a greater understanding about how their genetic condition might impact them and their family.

Today’s announcement builds on Melbourne Genomics’ work to evaluate genomic sequencing on patients with acute myeloid leukaemia, inherited neuropathy, colorectal cancer, focal epilepsy and childhood syndromes.

Additional disease areas will be announced in 2017.

Quotes attributable to Minister for Health Jill Hennessy

“Many patients with these rare conditions experience years of suffering and invasive testing – we’re investing in the genomic medicine revolution so more patients receive the diagnosis and care they need sooner.”

“Genomic sequencing not only brings the potential for faster and more accurate diagnosis, it gives patients and their families more certainty about how a genetic condition might impact them in the future.”

“Delivering this election commitment puts Victoria at the forefront of genomic sequencing not only in Australia, but on the world stage.”

Reviewed 19 August 2020

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