World-first diagnostic technology sets new benchmark in blood cancer detection

Queensland patients are among the first in the world to benefit from a diagnostic technology that is accelerating the detection of multiple myeloma, an incurable but treatable blood cancer.

Pathology Queensland Genomics Principal Chief Scientist Dr Adayapalam Nandini was instrumental in introducing the Multi-physics Automated Reconfigurable Separation (MARS) system to Queensland. She said its ability to isolate and concentrate malignant plasma cells was allowing clinically significant abnormalities to be detected at substantially lower disease burdens.

“This technology represents a major leap forward in how myeloma cells are isolated, tested and analysed,” she said. “Patients are getting answers faster and clinicians are getting the accurate information they need to help plan treatment earlier. The most phenomenal thing about this machine is that it enriches plasma cells so effectively, that even the smallest fraction of abnormal cells with genetic abnormalities can be detected.

The technology, already used to support more than 100 patients across Queensland, has significantly enhanced the precision of testing while more than tripling diagnostic turnaround times.

“With previous testing methods, if a patient had a 10% disease burden, we would be confident that we’d get an accurate result. Now we are down to one per cent, which is such a big difference,” added Dr Nandini. “In the cases we’ve done to date, we have detected abnormalities in a lot more patients, which means they’ve been able to receive targeted therapies sooner.”

Genetic testing for multiple myeloma was previously undertaken using cytoplasmic immunoglobulin Fluorescence in Situ Hybridisation (cIg-FISH), a highly specialised process requiring scientists to scrutinise individual cells under a microscope.

The MARS system has fundamentally altered that workflow. A patient’s sample is passed through a selection process in which magnetic beads identify myeloma cells, enabling those cells to be separated from the surrounding material and substantially enriched before genetic analysis.

The effect is considerable. Samples containing fewer than 10% myeloma cells in suspension can now be enriched to approximately 80% myeloma cells. That concentration gives scientists a far richer cellular population to analyse, increasing the likelihood of detecting clinically relevant genetic abnormalities that may previously have remained below the threshold of reliable identification.

The introduction of MARS followed years of logistical challenges and procedural requirements, supported by extensive scientific evaluation and clinical validation, according to Pathology Queensland Genetic Pathologist and Genomics Discipline Director Dr Chiyan Lau.

“Our previous approach relied heavily on microscopic examination – literally scanning slides for hours to find individual plasma cells stained with specific markers before we could analyse the FISH signals in the relevant cells,” Dr Lau said. “That process was incredibly labour-intensive and could take several hours per patient sample. By physically enriching myeloma cells before analysis, the MARS system removes that bottleneck. Now, once the cells are enriched, the slides can be digitally scanned and analysed with computer assistance, rather than relying solely on manual microscopy.”

The shift does not eliminate the need for specialist scientific judgement. Instead, Dr Lau said, it reallocates expertise towards the aspects of genomic analysis where human interpretation remains most consequential, while reducing the burden of repetitive manual examination.

“We’re not moving to a fully computerised process – skilled scientists are still essential – but this technology allows them to focus on the complex analysis that really requires their expertise, rather than the time-consuming manual scanning,” Dr Lau explained.

The implications are particularly significant for patients in regional, rural and remote communities, where distance and specimen viability have historically posed substantial barriers to timely genomic testing.

Under the new system, samples can be enriched to such an extent that they remain suitable for accurate testing for up to five days after collection. That represents a substantial extension of the previous testing window. Plasma cells do not survive for long outside the bone marrow, meaning transport times exceeding 24 hours could previously render some specimens unsuitable for analysis.

Townsville University Hospital staff specialist Dr Joel Wight said the development was particularly consequential for regional patients with myeloma.

“Previously, many samples from regional areas simply couldn’t be tested, as by the time they travelled hundreds of kilometres to a central lab, a large proportion failed,” commented Dr Wight. “Now, with improved processes and higher-quality testing, we’re seeing almost no failures. Faster turnaround times mean we now receive critical prognostic information within a clinically meaningful window and often before treatment even begins, which directly shapes treatment pathways.”

For patients with multiple myeloma, that timing can be clinically significant. Treatment may involve Johnson & Johnson’s Darzalex (daratumumab) in combination with Revlimid (lenalidomide) and dexamethasone, Carvykti, CAR T therapy, stem cell transplant or bone marrow transplant, depending on the aggressiveness and progression of the disease. More comprehensive and timely genetic information enables clinicians to calibrate treatment to the biological characteristics of an individual patient’s disease and influence both the intensity and direction of therapy.

“Identifying high-risk changes early may mean recommending a more aggressive approach, such as a second transplant or enrolment in a clinical trial,” Dr Wight said. “For others – particularly older or frailer patients – it helps guide decisions about whether intensive treatment is appropriate at all.”

He further explained, “For example, I recently had a patient whose results came back within two weeks, revealing a high-risk chromosomal deletion we weren’t expecting. That single result completely changed the treatment plan and ensured he received the most effective care for his type of myeloma. Having this level of insight, and having it early, is invaluable for regional patients.”

The MARS technology is developed by Applied Cells and funded through a Queensland Health innovation program.

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