Faster Diagnosis For Kids With Rare Diseases

03 November 2016

Victorian children with rare genetic conditions are five times more likely to get a diagnosis thanks to an Australian-first DNA testing project, saving thousands of dollars on expensive medical tests.

Minister for Health Jill Hennessy and Parliamentary Secretary for Medical Research Frank McGuire today met three year old Ginger, the first Australian to be diagnosed with KAT6A-related syndrome after participating in Victoria’s ground-breaking genomic sequencing project.

The Andrews Labor Government is investing $25 million in the genomic sequencing capability project which will see around 2000 Victorians access genomic sequencing tests over four years.

The first demonstration phase provided genomic sequencing to 315 patients in the areas of hereditary neuropathy, focal epilepsy, hereditary colorectal cancer, acute myeloid leukaemia and childhood syndromes. The key findings, released today, include:

  • Genomic sequencing provided six times as many diagnoses overall compared to standard testing
  • Five times more children with rare conditions were diagnosed
  • 42 per cent of adults and children with hereditary neuropathy received a diagnosis. None had received a diagnosis through standard tests
  • As a result of a diagnosis, 21 per cent of patients experienced a change in their treatment or management
  • Genomic sequencing saves money. Children received their diagnosis at one quarter of the cost of current testing practices saving thousands of dollars.

Many patients with rare and complex diseases undergo expensive medical tests over several years, and are still unable to find the cause of their illness. Genomic sequencing speeds up the diagnosis of rare and complex genetic conditions. A genomic sequencing test can read the DNA in all 20,000 genes from an individual in a single test.

Through the genomic sequencing project, more patients are receiving a diagnosis for the first time ever and getting the better care and treatment they need to improve health outcomes.

The second phase of the project looking at another five diseases commenced in March this year, with a third phase, looking at an additional five diseases, due to start in 2017.

The Melbourne Genomics Health Alliance is made up of 10 of Victoria’s leading health services and medical research institutes. The Government also today announced distinguished lawyer and business woman Catherine Walter AM had been appointed as Melbourne Genomics Health Alliance’s first Board Chair.

Quotes attributable to Minister for Health Jill Hennessy

“Genomic sequencing is revolutionising the way we diagnose rare and complex genetic conditions – and Victoria is leading the way, here in Australia and across the world.”

“Kids with rare genetic conditions can suffer years of testing and expensive bills without ever learning what’s making them ill – our investment in genomic sequencing will help change that.”

Quote attributable to Parliamentary Secretary for Medical Research Frank McGuire

“These results show genomic sequencing has the power to change lives by giving patients and their families a clear diagnosis and a better understanding of how to treat their illness, now and into the future.”

Reviewed 19 August 2020

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