Experts are urging the Australian government to establish a national genomic screening program following the results of a groundbreaking pilot study conducted by Monash University. The DNA Screen pilot study revealed that three-quarters of high-risk genetic variant carriers were not eligible for publicly funded genomic screening, sparking calls for a comprehensive national approach.
Conducted between 2022 and 2024, the study involved over 10,000 Australians aged 18 to 40, although more than 30,000 registered within a day of national media coverage. Participants were carefully selected to represent a diverse cross-section of the population, including rural and remote areas, as well as culturally and linguistically diverse (CALD) communities.
Study Findings and Implications
The cohort consisted of 45.5% males, 30% CALD individuals, and 2.2% Indigenous Australians, with a median age of 31.9 years. Pathogenic or likely pathogenic variants (PLPVs) were identified in 2% of participants. Notably, 75% of those who accepted clinical genetic appointments did not qualify for publicly funded testing.
“Most individuals with PLPVs in the general population remain unidentified, even for commonly tested medically actionable conditions,” the study authors noted.
The study focused on screening for 10 genes associated with hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolaemia. These conditions are recognized by the US Centers for Disease Control and Prevention as tier one conditions—medically actionable yet underdiagnosed at the molecular level. The CDC had previously recommended these as a starting point for adult genomic screening in 2020.
Challenges and the Call to Action
While private genetic testing is available, it often raises concerns about result validity, cost, equity, and lack of follow-up care. The findings from the DNA Screen pilot study have intensified the call for a publicly funded national screening program. Monash University has even launched a campaign site encouraging Australians to lobby their Federal MPs for funding.
Dr. Jane Tiller, project co-lead and legal and genomic expert at Monash, emphasized the urgency of the situation, stating, “We must move towards using genomic information to prevent disease, and giving all adult Australians access to this type of screening.”
Government Response and Future Steps
A spokesperson from the Department of Health, Disability and Ageing acknowledged awareness of the study and confirmed receipt of the proposal for further research. However, no timeline was provided for a response to the funding request. Health Minister Mark Butler had not commented by the time of publication.
The push for a national genomic screening program represents a significant step in preventative healthcare. By identifying individuals with high-risk genetic variants early, medical interventions can be more effectively deployed, potentially saving lives and reducing long-term healthcare costs.
As the debate continues, stakeholders and the public alike await the government’s decision, which could set a precedent for genomic healthcare in Australia. The implications of such a program extend beyond individual health, potentially transforming public health policy and the healthcare system at large.
