The map that’s leading us to faster diagnosis for rare diseases and cancer

UniSA researchers have been amongst the first in Australia using supercomputers and genome mapping to speed up diagnoses and improve health outcomes for people with rare diseases and cancer, whilst also saving Australia’s healthcare system an estimated $34 million.

Conspicuous amongst the beneficiaries of this breakthrough are children under 12 months, who make up 35 per cent of the deaths caused by rare diseases with genetic links, whilst also accounting for one-third of our hospital admissions and 50 per cent of hospital costs.

In 2015, the Centre for Cancer Biology (CCB), a partnership between UniSA and SA Pathology, created its Australian Cancer Research Foundation Cancer Genomics Facility to offer clinicians easy access and rapid turnaround times to molecular tests and bioinformatics.

In fact, this was the first facility in Australia accredited by the National Association of Testing Authorities for whole-exome sequencing. With a single test, all 20,000 of a patient’s genes are mapped, leading to a quicker diagnosis, and earlier intervention and prevention of cancers and rare diseases.

The test cost is significantly cheaper when performed locally, which eliminates the need to send samples overseas for testing. Localised testing has raised the rate of successful diagnoses to around 50 per cent: five times the previous average.

Armed with the test results, CCB can then work with clinicians to develop a personalised treatment for each individual based on the specific genetic makeup of their disease; they can also predict when to reduce or stop therapy to save patients from unnecessary side effects and spiralling expenses.

This breakthrough is increasing diagnostic certainty and personalised treatment, which in turn provides greater reassurance and the best use of resources for patients and their families.

Image - Images of Research Finalist: Healthy podocytes sharing with cancer cells – Dr Melanie MacGregor, Research Fellow