“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,” says ovarian cancer researcher Professor Anna deFazio from The Westmead Institute for Medical Research 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,” says Prof deFazio.
“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.”
“It’s a remarkable time to be a cancer researcher,” says Prof deFazio. “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.” “We’ve learnt that every single patient is unique. 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.”
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.
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