“If you have ovarian cancer, ask your oncologist
to consider a test that will help determine whether your cancer is one of just under 50 per cent that might be responsive to new treatment options such as PARP
inhibitors.”
That’s the message from ovarian cancer researcher Professor Anna deFazio from The Westmead Institute for Medical Research (WIMR) and the University of Sydney.
In January 2024, Homologous Recombination DNA Repair Deficiency (HRD) testing to guide PARP inhibitor treatment became widely available following reimbursement in Australia for patients with advanced stage ovarian cancer with HRD through Medicare.
“This will contribute significantly to the gradual improvement in treatment that has been seen over the last few years. We hope these changes will translate into improved 5-year survival rates, which are currently too low, at less than 50 per cent,” says Prof deFazio. She is leading a project that takes molecular testing further.
Prof deFazio is chief investigator in INOVATe, a project funded by the Cancer Institute NSW and Cancer Council NSW involving 13 Sydney hospitals, 4 research institutes, and 3 Universities, all working to improve ovarian cancer treatment.
“HRD testing has shown how rapidly results can progress from the research laboratory to becoming part of everyday care for patients. Now we can do more,” she says.
“One barrier to improving outcomes was that ovarian cancer had traditionally been treated as a single disease. We now understand that ovarian cancer is a complex, diverse disease comprising multiple distinct subtypes that vary considerably in their biological behaviour and response to standard treatments.”
Over the past eight years, over 800 women in New South Wales with ovarian cancer have agreed to provide samples for comprehensive genomic and molecular testing by the INOVATe Project.
“With Illumina’s support, we were able to better understand every individual cancer, and guide women to the best available clinical trial options,” Prof deFazio says.
A HRD test picks up if ovarian cancer is HRD positive or negative.
“If you are positive then you have a reimbursed treatment option,” says Illumina’s Robert McBride, General Manager Intercontinental Illumina.
“Comprehensive genomic profile gives more information, it can tell you if you are HRD positive and also if your cancer might respond to other drugs. This could be useful for HRD negative patients.”
Prof deFazio says it’s “a remarkable time” to be a cancer researcher.
“I never imagined that we could work on projects where we can make a difference for patients today. There are so many emerging opportunities for treatments.
Professor Anna defazio
“We’ve learnt that every single patient is unique,” she continues.
“The more you look at gene alterations that occur in ovarian cancer cells, the more you realise that every patient and every cancer is different. That’s why wider testing is so important, to get people who need additional treatment on the right trials faster.
“For parts of this research, we used Illumina’s comprehensive genomic profiling technology, which allowed us to test over 500 genes for mutations and look at HRD at the same time. This approach also has great potential for other cancer types including breast cancer and prostate cancer.
“Illumina has been fantastic. We could not have added this important aspect to INOVATe testing without them.”
Caitlin Delaney was diagnosed with stage 4 clear cell ovarian cancer, in 2017, at the age of 39, when her daughters were just two and four years old.
The IVF scientist, from Sydney, says she “probably would have died years ago” if not for a serendipitous encounter with Prof Anna deFazio in 2019.
As luck would have it, Prof deFazio was in the audience when Caitlin spoke at an Ovarian Cancer Australia event at NSW Parliament. Since her diagnosis she has become a patient advocate and founder of compassionate care education business CareFully Solutions.
“A part of why I advocate is not only for the greater good but to stay alive,” Caitlin says. “And through my advocacy, I’ve met amazing people like Anna. She came up to me and asked if I’d had the INOVATe genetic testing that might be able to connect me to some treatments – and I said ‘What’s that?’.”
Caitlin was found to be HRD positive. While she was unable to access a PARP inhibitor, INOVATe testing separately identified another type of gene mutation, in turn guiding treatment specific to her case.
Today, she describes genomic testing as a game-changer and says all women diagnosed with ovarian cancer should immediately ask for the HRD test and “100% request wider genomic profiling”.
“I probably would have died years ago if it wasn’t for genomic testing, and Anna is one of the reasons I’m still here.”
Caitlin also asked for the HER2 tumour marker test, which returned positive, and has undergone a complete genome sequencing through the Australian Rare Cancer Portal. She is a passionate advocate for increased awareness and greater access and equity to genomic profiling and treatments for all cancers.
“Everyone’s cancer is as unique as their fingerprint – even if you have got the same pathology, no two cancers present in the same way. Every cancer patient has such a unique tumour microenvironment. Various mutations and markers may be present, some that we haven’t even identified yet, which is why genomic testing is so important.”
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About HRD and PARP
Research in recent years has shown that some ovarian cancer cells have a weakness, known as Homologous Recombination DNA Repair Deficiency (HRD) that makes them vulnerable to certain new drugs known as PARP inhibitors.
Initially only cancers with BRCA gene alterations were thought to be vulnerable to PARP treatment. Now we know that about half of all ovarian cancers can be treated with PARP. But which half? The HRD genetic test provides a quick answer to that question, and a path to better treatment for many women.
PBS statement on Medicare funding: https://bit.ly/3ZI4dwl
About Illumina
Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments.
Illumina has installed more than 380 sequencers in Australia and works closely with partners in Australia such as the Garvan Institute, Omico Australia, Minderoo Foundation, University of Melbourne, Peter MacCallum Cancer Centre and Australian Genome Research Facility (AGRF). Visit illumina.com and connect on X (Twitter), Facebook, LinkedIn, Instagram, TikTok, and YouTube.
About next-generation sequencing
Next-generation sequencing (NGS) is a massively parallel sequencing technology that offers ultra-high throughput, scalability, and speed. The technology is used to determine the order of nucleotides in entire genomes or targeted regions of DNA or RNA. NGS has revolutionised the biological sciences, allowing labs to perform a wide variety of applications and study biological systems at a level never before possible. Today’s complex genomics questions demand a depth of information beyond the capacity of traditional DNA sequencing technologies. NGS has filled that gap and become an everyday tool to address these questions: https://sapac.illumina.com/science/technology/next-generation-sequencing.html#:~:text=What%20is%20NGS%3F,regions%20of%20DNA%20or%20RNA.