Genomic diagnostics test available for blood cancer patients

Monday, 13 July, 2020

Genomic diagnostics test available for blood cancer patients

Blood cancer patients at Melbourne’s Epworth HealthCare and Peter MacCallum Cancer Centre now have access to circulating tumour DNA (ctDNA) genomic testing — an advanced diagnostics test that will potentially save lives and direct patients to alternative treatment options outside of chemotherapy.

The development of the 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. For patients, it serves as 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.

ctDNA tests (also known as ‘liquid biopsies’) examine blood samples instead, where DNA from a cancerous tumour can be found circulating. 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. The tests are also relatively easy to perform and less painful to collect.

“ctDNA is an exciting step in genomic diagnostics to help tailor treatment for patients with blood cancers,” said Dr Piers Blombery from the Peter MacCallum Cancer. “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 more accurate diagnoses, prognoses and ultimately, more treatment options.”

Dr Bruce Davis, a patient from Epworth HealthCare, owes his life to ctDNA genomic testing. Dr Davis 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 the Christine and Bruce Wilson Centre for Lymphoma Genomics, Dr Davis’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 deteriorating very rapidly with lymphoma invading my brain,” Dr Davis said. “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.”

Professor Miles Prince, Director of Cancer Immunology and Molecular Oncology at Epworth HealthCare and Co-Founder of the Snowdome Foundation, said 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,” he said. “All of this means hope that one day, treatment success stories such as Bruce’s will be common.”

Image credit: ©

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