Experts have issued a call to action following the findings of the DNA Screen pilot study.
Three quarters of high-risk genetic variant carriers were not eligible for publicly funded genomic screening in a recent pilot study conducted by Monash University, leading to calls from experts to fund the development of a national screening program.
More than 10,000 Australians aged 18 to 40 participated in the study from 2022 to 2024, though over 30,000 people registered to be a part of it after only a single day of national media coverage.
All were selectively recruited to achieve proportional representation from states, territories and ethnicities, including rural and remote areas and culturally and linguistically diverse (CALD) communities.
The cohort were 45.5% were male, 30% were CALD (including 24% born outside Australia and 18% living in households where English was not the primary language) and 2.2% were Indigenous Australians. Median age was 31.9 years.
Pathogenic or likely pathogenic variants (PLPVs) were detected in 2% of the cohort. Of the 165 participants who accepted clinical genetic appointments, 75% did not meet the eligibility criteria for publicly funded genetic testing.
“Most individuals with PLPVs in the general population remain unidentified, even for commonly tested medically actionable conditions,” the authors wrote.
The study screened participants for 10 genes linked to hereditary breast and ovarian cancer, Lynch syndrome and familial hypercholesterolaemia. The US Centers for Disease Control and Prevention designated these as tier one conditions – medically actionable with proven interventions, but molecularly underdiagnosed. The CDC proposed these as a starting point for adult population genomic screening back in 2020.
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And while private genetic testing options do exist, concerns have been raised about the validity of the results, as well as cost, equity and a lack of follow-up care. Combined with the findings of the DNA Screen pilot study, the call to action has been urgent.
Monash University launched a campaign site from which you can email your Federal MP to lobby for this funding request.
Dr Jane Tiller, project co-lead and Monash legal and genomic expert, told media that it was 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,” she said.
A spokesperson for the Department of Health, Disability and Ageing told The Medical Republic that the Government was aware of the DNA Screen pilot study and has received the proposal for further research.
They did not comment on when a response to the funding request could be expected, and Health Minister Mark Butler had not responded to TMR’s request for comment at time of publication.
