Leading genomic health experts from Monash University are calling for urgent government funding to progress the development of a national preventive genomic testing program that would save thousands of Australians from conditions like cancer and heart disease.
This call to action follows a Monash-led nationwide pilot study recently completed, offering free genomic screening to 10,000 Australians aged 18 to 40. The pilot tested for 10 medically actionable genes linked to hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolaemia.
The findings are published today in the inaugural edition of the new academic journal Nature Health. The pilot study was led by Professor Paul Lacaze and Dr Jane Tiller from Monash University, on behalf of a national network of leading clinicians, researchers and public health experts.
The study found an estimated one in 50 young Australians carries a high risk genetic variant for breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolaemia, making genomic testing and preventative treatment a top priority.
But publicly funded DNA testing is currently only available to a limited group of Australians and strict eligibility criteria excludes those who need it most.
In fact, around 9 in 10 Australians at high genetic risk remain undetected.
Monash’s DNA Screen program is working to develop a national screening program that could be available to all adult Australians through the public health system, and is calling on the government to fund the next stage of this vital work.
Project co-lead and Monash legal and genomic expert Dr Jane Tiller said it is a case of life or death for thousands of Australians.
“We must move towards using genomic information to prevent disease, and giving all adult Australians access to this type of screening,” Dr Tiller said.
“Population genomic screening aims to identify adults at high genetic risk of serious but preventable conditions before symptoms appear.
“Without this life-saving testing, thousands of Australians miss out on this critical health information and are unable to prevent disease until it is too late.”
Researchers are now urging the government to fund the next stage of the project: a 100,000 person translational phase that will help determine the best way to implement a program at a national scale.
It would be a lifeline to Australians like Zoe, who was just 12 years old when she lost her mum to breast cancer.
In her 20s, Zoe was told she was too young to start breast surveillance, and wasn’t eligible for testing to determine if she had inherited a genetic risk of developing the disease.
It was only after she enrolled in the DNA Screen program that Zoe discovered she had a high-risk BRCA2 gene variant.
She was this week diagnosed with stage 2 cancer and is scheduled for a double mastectomy.
“Without genomic testing, I wouldn't have had the backing to be able to push for the increased screening in the first place,” she said.
“The cancer likely would have gone undetected for a lot longer, particularly as I don't have any symptoms, noticeable lumps, or any abnormalities or changes in my breasts that would have otherwise given them a cause to investigate further.
“This has really demonstrated just how important screening is, and I am so grateful that I had a way to access that through DNA Screen. It might just have saved my life.”
Professor Paul Lacaze, DNA Screen lead and Monash’s Head of Public Health Genomics, said there is a clear desire from young Australians with high genetic risk of preventive disease to access public screening, with tens of thousands signing up for the DNA Screen pilot study.
“Most of the participants would not have qualified for existing government funded genomic testing,” Professor Lacaze said.
“If we can identify people early, before disease develops, we can intervene, save lives, and reduce future healthcare costs.
“DNA screening has the potential to transform public health in Australia.”
Monash experts have worked tirelessly for more than a decade to lay the groundwork for a national adult genetic screening program.
Dr Tiller has been instrumental in ensuring protection of sensitive genomic health information and worked closely with the government on the recently introduced legislation to ban genetic discrimination in life insurance, paving the way for programs that increase access to preventive genomic information.
To support the campaign for funding to expand the DNA Screen program, visit https://dna-screen.good.do/dnascreeningforall/
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Vision and images of DNA Screen case studies are available here.
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