After just over a year, a Victorian genomics expert is well on his way to making a new test for melanoma available in Australia with the announcement that his groundbreaking discoveries will be published in the British Journal of Cancer.
 
Dr Ryan van Laar launched Melbourne-based Geneseq Biosciences in November 2016 and the company has since created a genomic database of melanoma patients, mined the data to identify 38 molecules (microRNAs) in patients’ blood samples that indicate melanoma, filed a patent for the Melaseq blood test and undertaken validation research.
 
It’s been a whirlwind process that could see the diagnostic tool, which uses a method called Nanostring nCounter gene expression analysis, soon saving lives.
 
“Being aware of the burden melanoma has on Australia, with three to four people dying from it each day, we are working as hard as possible to make the test available,” van Laar told Healthcare IT News Australia.
 
“I’m so optimistic this test is really going to make a difference. Genomic technologies have matured so much over the past five to 10 years, and the need for new methods to detect and manage melanoma is enormous.”
 
Having the work reviewed by independent experts and accepted for publication in January’s BJC is a “great stamp of approval,” according to the translational genomics scientist, and moves the test one step closer to clinical use.
 
Van Laar said current methods for detecting melanoma are proven to have limited scientific credibility. Skin checks are subjective and recent studies have shown almost one in six melanomas are misdiagnosed, which means some patients aren’t receiving the early treatment they need, giving the cancer time to spread. It also means some people are being treated for a cancer they don’t have, with estimates that 25 per cent of Australia’s melanoma healthcare costs – $71 million per year – are for patients who are later found to have not had the disease.
 
Unlike other common cancers, the death rate of melanoma in Australia has risen alarmingly. Melanoma is the leading cause of cancer death in young people aged between 20 to 39 years old, and in recent years has killed more Australians than road accidents.
 
Using new technology, Melaseq pinpoints the molecular fingerprint of melanoma, even in the earliest stages. Currently the disease is usually diagnosed at a late stage, leading to treatment costs more than 100 times greater than those incurred by treating the early-stage illness. Patient outcomes also vastly differ.
 
Melaseq could increase early detection by being used in the screening of high risk individuals such as those with a large number of moles, fair hair and skin, and a family history of the disease. Post-surgery patients could also be tested to see if treatment was successful.
 
“We’re also currently performing studies to verify whether Melaseq can be used to reassure someone diagnosed with melanoma that their treatment or surgery has been successful. So there may be a post-treatment use for the test too, thereby reducing anxiety about relapses or recurrences,” van Laar said. 
 
It is the culmination of 15 years spent at the interface of cancer research and patient care for van Laar, who began his genomics career at Melbourne’s Peter MacCallum Cancer Centre. Since then he has worked at the world’s first commercial genomics organisation, the Netherlands’ Agendia, where the Mammaprint test for breast cancer was launched. He has also been the Laboratory Director and Head of Research for Signal Genetics, which performed genomic testing for myeloma in patients in the US.
 
Harnessing his genomics expertise in the fight against cancer is a professional vendetta for van Laar.
 
“Cancer is a disease that touches everyone. My main career goal is to bring research discoveries out of the lab and do what I can to make them safe, reliable, and available to patients sooner rather than later,” he said.
 
With publication in the BJC, his Melaseq blood test could be available sooner.
 
“Depending on the level of support we receive from the Australian medical community, we feel confident the test will be available within one to two years.”