Monash University researchers are urging the Australian government to provide funding for a national preventive genomic testing program. This follows the completion of a nationwide pilot study, led by Monash, which offered free genomic screening to 10,000 Australians aged 18 to 40. The study tested for 10 medically actionable genes associated with hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia.
Results from the study show that about one in every 50 young Australians carries a high-risk genetic variant linked to these conditions. Currently, publicly funded DNA testing is only available to a small group under strict eligibility rules, leaving many at risk undetected. Researchers estimate that around nine out of ten Australians with high genetic risk are not identified through current programs.
The DNA Screen program at Monash aims to establish a national screening initiative accessible to all adults via the public health system. Project co-lead Dr. Jane Tiller emphasized the importance of expanding access: "It is a case of life or death for thousands of Australians."
Researchers are now seeking government support for a larger translational phase involving 100,000 participants to guide implementation on a national scale.
One participant in the pilot program, Zoe, shared her experience after losing her mother to breast cancer at age 12. In her twenties, she was told she was too young for surveillance and did not qualify for genetic testing until joining DNA Screen revealed she carried a high-risk BRCA2 gene variant. She has since been diagnosed with stage 2 cancer and will undergo surgery.
"Without genomic testing, I wouldn't have had the backing to be able to push for the increased screening in the first place," Zoe 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 from Monash's Public Health Genomics department highlighted strong demand among young people: "Most of the participants would not have qualified for existing government funded genomic testing," he 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."
Over more than ten years of work towards developing an adult genetic screening program nationally, Monash experts like Dr. Tiller have contributed by helping ensure protections around sensitive data and collaborating on recent legislation banning genetic discrimination in life insurance—measures seen as crucial steps toward broader access.
Supporters can find more information about efforts to expand DNA Screen at https://dna-screen.good.do/dnascreeningforall/
