A new Peter Mac-led study has posthumously tested samples from ovarian cancer patients, who missed the chance for genetic testing before they died of the disease.

Genetically testing these patients' samples allows for their families to be informed of potential higher cancer risk, which then makes family members eligible for subsidised genetic testing themselves.

"It's now well recognised how inherited genetic mutations can increase a person's risk for developing ovarian, breast, prostate, pancreatic and other cancers," says Dr Kathryn Alsop, a senior author on the study published in the Journal of Clinical Oncology last week.

In 2013, thanks to previous Peter Mac-led research, the national genetic testing guidelines for ovarian cancer patients where changed.

Since then, it's been recommended that the majority of women with ovarian cancer receive genetic testing, which is subsidised by the federal government.

Without the subsidy the out-of-pocket costs for this testing would be over $1,000.

This study focussed on identifying ovarian cancer patients who were diagnosed before the guidelines were changed, and hence who may not have had the opportunity to undergo genetic testing while they were alive.

"Of the 787 patients we tested in this study, 11% had an inheritable genetic mutation that increases a person's risk of developing cancer," says Dr Rachel Delahunty, lead author of the study.

"Prior to this testing, their families may not have been aware of their increased genetic risk."

The researchers found this health information is welcomed by family members, as it allows them to manage their own cancer risk and possibly even take preventative measures.

"Importantly, it means that these families do not need to wait for another cancer diagnosis within their family before being able to pursue subsidised testing options," says Dr Alsop.

This research was undertaken with support from the Peter Mac Molecular Genomics Core, Bioinformatics Core, Molecular Pathology, Australian Ovarian Cancer Study, the Ovarian Cancer Prognosis and Lifestyle Study, the Australian Cancer Study and the Parkville Familial Cancer Centre.

Ovarian Cancer Australia was a partner on the study, which was undertaken at sites across Australia including St John of God (WA), King Edward Memorial Hospital (WA), the Royal Hospital for Women/Prince of Wales (NSW) and Monash Medical Centre (Vic). It was funded by the Australian Federal Government's Public Health and Chronic Disease Grant program.


For more information contact the Peter Mac Communications team on 0417 123 048.

About Peter Mac

Peter MacCallum Cancer Centre is a world-leading cancer research, education and treatment centre and Australia's only public health service solely dedicated to caring for people affected by cancer.

Image: DNA genotyping and sequencing. Credit: Daniel Sone, National Cancer Institute