Blood cancer patients are receiving faster and more accurate diagnoses, as well as improved treatment thanks to a groundbreaking study by the Leukaemia Foundation and the SA Genomics Health Alliance.
The five-year collaboration produced a state-of-the-art molecular genomic test, which has now been rolled out across Australia and is increasing survival rates and quality of life for people with rare forms of blood cancer.
An urgent need for faster and more accurate testing
Launched in 2018, the research project sought to develop cutting-edge diagnostic tools and make precision medicine a reality for blood cancer patients. The research team initially focused on testing for acute myeloid leukaemia (AML), a rare but very aggressive form of cancer.
More than 1200 people receive an AML diagnoses each year and their survival relies on swift and accurate identification of genetic mutations within cancer cells. This information enables specialists to select the best treatment options.
For more than 20 years, genetic testing for AML has been largely unchanged and could only detect mutations if at least 10% of a patient’s blood or bone marrow contained cancer cells. This meant some patients did not receive optimal treatment in time.
The promise of next-generation sequencing – a powerful tool capable of detecting cancer at a much earlier stage – had long existed, but barriers such as high costs and slow processing times prevented its widespread use. The SA Genomics Health Alliance aimed to change this.
Next-generation sequencing – more sensitive, affordable and faster tests
Led by Associate Professor Anna Brown, the research team designed, tested and validated a revolutionary next-generation sequencing test for AML. This diagnostic tool represented a monumental leap forward:
- Cancer cells could now be detected in only 4% of a patient’s blood or bone marrow
- Testing times were reduced from days to just 24 hours, facilitating faster life-saving treatment decisions
- Leading-edge testing became more accessible for a greater number of Australians
Beyond AML: unlocking new treatment possibilities for all blood cancers
The innovative technology was then expanded into Medicare-funded testing for patients with myeloproliferative neoplasms – rare blood cancers that originate in the bone marrow.
The research team also developed a comprehensive genomic profiling test to identify new treatment options for all types of blood cancers. This is now integrated into standard patient care and innovative clinical trials.
A future without blood cancer: the power of research
The journey to transform blood cancer care is far from over, but the success of this project is a testament to the power of medical research and the impact of dedicated funding. By continuing to invest in genomic discoveries, we move closer to a world where blood cancer can be detected earlier, treated more effectively and, one day, prevented entirely.
For the tens of thousands of Australians diagnosed with blood cancer each year, this research is not just science. It’s a lifeline.
The future of blood cancer treatment is being rewritten thanks to our dedicated researchers and the incredible generosity of our community supporters. For the families affected by this disease, that future can’t come soon enough.
Research partners for this study include the Centre for Cancer Biology, South Australian Health and Medical Research Institute, Royal Adelaide Hospital, The University of Adelaide, The University of South Australia, Flinders University, SA Pathology, and the Women’s and Children’s Hospital.
