When it comes to medicine, one size doesn’t fit all

Member Spotlight

Professor Anna DeFazio has been a cancer researcher for more than a generation. She spent a long time researching breast cancer and for the past 20 years, ovarian cancer. She knows only too well that there are 1300 Australian women diagnosed with ovarian cancer every year. Progress on reducing that figure has been slow.

Like all medical researchers, Anna is driven by the quest to improve patient outcomes by finding treatments that can either halt or impede the progress of a disease. For years, the approach has been to identify a standard treatment that gives the best result for the majority of those diagnosed with a disease or a cancer.

But what if there was another way? A way that was highly targeted to the individual? Would the results be different? Would survival rates improve?

“The more research we did, the more we realized that we needed a completely different approach,’’ Anna said. “This idea that all patients are the same and one size fits all, just wasn’t cutting it, and that was the reason we weren’t making more progress.’’

The new approach is called precision medicine.

At the Westmead Institute for Medical Research (WIMR) in western Sydney, precision medicine has become an integral part of their approach to researching a range of diseases and radically changing patient care. And Anna is part of that new approach.

She heads the Institute’s Center for Cancer Research, is the Sydney West Chair of Translational Cancer Research at the University of Sydney and also leads WIMR’s INOVATe program (Individualised Ovarian Cancer Treatment Through Integration of Genomic Pathology into Multidisciplinary Care). The program uses new protocols for molecular tests to match patients with new targeted therapeutic drugs.

The precision medicine approach is built on a long list of research and technological breakthroughs: genomic sequencing and bioinformatics, data-mining and Artificial Intelligence, deeper knowledge about patient risk factors, plus more sophisticated imaging techniques have reshaped diagnosis, treatment, and prevention. Combining those new approaches makes it increasingly possible to tailor treatment to an individual’s disease based on their genetic profile.

Anna has seen how this approach has emerged from the conventional treatment options, especially when it came to clinical trials for ovarian cancer drug treatments.

“There were some patients who do really well on the current recommended treatments but there were actually a lot of patients who didn’t,’’ she said. “We were getting just over 40 percent five-year survival rates and just could not seem to get through that barrier with the usual treatment approach.

“A number of new techniques came on board that enabled us to ask detailed questions about why some patients do so poorly, while other patients do unbelievably well – what’s different between them? And we started to realise there are some fundamental differences between the patients that put them in to different groups that we hadn’t recognised before, some had particular gene alterations in their cancer cells that others didn’t, and some responded better,’’ Anna explained.

“So, the more we learned about the differences from one patient to another, the more we realised that by treating them all the same, we were not doing the best thing by every single patient.’’

Applying the precision medicine approach means analysing a tumour’s genetic profile to match a patient to the most appropriate clinical trial that could potentially deliver a more precise treatment.

Ultimately, there is optimism within medical research circles that these new treatments, which will include targeted drugs, cell therapies and immunotherapies, could treat and possibly cure diseases that are currently intractable.

WIMR’s Executive Director Professor Philip O’Connell explained that personalising health for an individual only came to the fore when the first human genome was sequenced in 1995.

“Since then, medical researchers have recognised, and begun to apply, the power of an individual’s unique genome – the complete set of their DNA – to help diagnose illness, evaluate the risk of disease, its likely progression, and guide treatment decisions,’’ he said.

“Precision medicine not only considers the specifics of an individual’s genome, it also considers their environment and lifestyle. I like to think of precision medicine as changing the focus from treating an illness to treating an individual,’’ Professor O’Connell said.

WIMR’s expertise in the field was also applied to the COVID-19 virus, after the virus genome was released in January, 2020. The WIMR team then developed a genome sequencing and analysis approach that enabled researchers to trace the origins of the first wave of COVID cases.

“The sequencing method was then made public and is now being used across Australia and the world,’’ Professor O’Connell said. “The profound effect that this sequencing technique has on the way we analyse and trace the origin of COVID-19 cases, and how they evolve over time, cannot be overstated.’’

For Anna, the INOVATe program underscores the multidisciplinary approach that is at the heart of precision medicine. “The whole team is looking after the patient,’’ she said. “So, what we want to do is to introduce molecular pathology into the everyday care of our patients.’’ Anna is a researcher, but she is also part of the clinical care team – researchers and clinicians working together and sharing views, thinking, observations and insights. “It has made it much easier for us to do these projects and implement new results because the team work together to address research questions that will ultimately impact on clinical care.’’ Anna said.

The application of precision medicine to ovarian cancer is in its early days but the potential for making a profound difference is real.

“We can’t yet say at the moment that we’ve shifted the dial on survival rates overall,’’ Anna said, “however, I can tell you that individual patients, and specific groups of patients, who would have done very poorly on standard treatments, have done very well on these targeted treatments.’’

The INOVATe program, led by Professor Anna DeFazio at The Westmead Institute for Medical Research, has been funded by grants from the Cancer Institute of NSW and Cancer Council NSW. Expanding on the success of this program, Professor DeFazio intends to launch a similar investigation into precision medicine approaches to endometrial cancers and The Westmead Institute for Medical Research is currently seeking support to help make this possible.

For further information about the INOVATe program, research being undertaken by Professor DeFazio, and The Westmead Institute for Medical Research, please contact Jayne Wasmuth at The Westmead Institute for Medical Research Foundation: jayne.wasmuth@sydney.edu.au.

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