Australian blood cancer patients will now have access to circulating tumour DNA (ctDNA) testing, an advanced diagnostics test that will potentially save lives and direct patients to alternative treatment options outside of chemotherapy.

The introduction of ctDNA blood tests in Australia is a leap forward in translating research into clinical practice.

The development of the first of its kind test has been made possible by the philanthropic generosity of donors from the Snowdome Foundation and Epworth HealthCare through the Epworth Medical Foundation and draws on the scientific knowledge of the Christine and Bruce Wilson Centre for Lymphoma Genomics at the Peter MacCallum Cancer Centre.

The new tests are a welcome alternative to painful and limited tissue sample biopsies used to diagnose and monitor a cancer’s progression.

Up until now, diagnosis and assessment of blood cancer progression has relied on invasive biopsies of the lymph node or bone marrow, depending on the cancer type.

Surgical biopsies can be painful procedures, and the results are usually confined to the biopsied area. Also known as ‘liquid biopsies’, ctDNA tests examine blood samples instead, which are relatively easy to perform and less painful to collect.

New research has discovered that DNA from a cancerous tumour can be found circulating in blood, which is the basis for ctDNA tests.

As a result, ctDNA testing can provide a broader perspective of a tumour and is not limited to a biopsied area, making it possible for certain cancers to be tested via a blood test where it’s too difficult or dangerous to carry out a biopsy, such as the lungs or brain.

Dr Bruce Davis, a patient from Epworth HealthCare, owes his life to ctDNA genomic testing.

Bruce had developed T-cell lymphoma back in 2013 and despite a raft of different chemotherapy treatments and immunotherapy, his lymphoma returned in 2018. It had spread to his vital organs including his stomach and brain, making it incredibly risky to biopsy.

Utilising ctDNA genomic testing at Peter MacCallum Cancer Centre’s Christine and Bruce Wilson Centre for Lymphoma Genomics, Bruce’s treating team found a specific protein in his tumour
that is also present in melanoma tumours. A treatment targeting this specific protein could be utilised to attack his cancer.

“I was gravely ill and deterioring very rapidly with lymphoma invading my brain. The molecular testing performed and the abnormality it detected allowed my specialist to give me targeted therapy which sent my disease into remission. I made a miraculous recovery” says Bruce Davis who was on a golf course in Scotland just two months after treatment commenced in early 2019. Bruce’s treatment had gone from palliative care to a targeted treatment, the test literally saved his life.

Director of Cancer Immunology and Molecular Oncology at Epworth HealthCare and Cofounder of the Snowdome Foundation, Professor Miles Prince AM says that ctDNA testing helps clinicians to determine which genes are driving changes in cancers, and allows them to attack the weakest point. “Genomics is opening up more research options and more ways to target and treat an individual’s cancer. All of this means hope that one day, treatment success stories such as Bruce’s will be common,” says Prince.

Dr Piers Blombery from the Molecular Haematology Laboratory at Peter MacCallum Cancer Centre echos Prince’s sentiment. “ctDNA is an exciting step in genomic diagnostics to help tailor treatment for patients with blood cancers,” he says. “Every cancer is different and genomics testing such as the ctDNA panel gives clinicians more details about what drives the individual patients tumour cells, it can give you a more accurate diagnoses, prognoses and ultimately more treatment options.”

Tests conducted to date have resulted in a clinically meaningful outcome for 60% of patients. Genomic testing should now be a central part of the diagnostic work up of patients with blood cancers such as lymphoma and leukaemia.