Renewed Push for National DNA Screening Program in Australia

Australian genomic researchers have renewed a call for a national DNA testing program, saying the country is at risk of ‘falling behind’ other nations already rolling out public programs. Researchers from Monash University’s DNA Screen program say such an initiative could ‘transform public health in Australia’, as the complete findings of its pilot program, which concluded last year, are published. In the program, researchers tested the DNA of 10,000 Australians aged 18–40 years from across the country. Via saliva samples, it found 2% of participants carried a high-risk genetic variant for hereditary breast and ovarian cancer, Lynch syndrome, or familial hypercholesterolaemia (FH). In Australia, publicly funded DNA testing is currently only available to a limited cohort, under strict eligibility criteria. Yet around nine in 10 Australians who are at high risk of adult-onset genomic conditions remain undetected, say the researchers, who conducted a study based on UK figures. RACGP Expert Committee – Quality Care Chair Professor Mark Morgan says GPs will play a ‘central role’ in any future DNA screening, saying current programs for the general population miss the ‘optimum time to start active surveillance and risk-reduction measures’. He said there is ‘widespread under-detection’ of FH, Lynch syndrome and hereditary breast and ovarian cancer. ‘Our current approach of using family history and cascade testing of relatives falls short,’ Professor Morgan told newsGP. ‘Many of our risk-based screening depends on taking an accurate family history, but often family history is unavailable or inaccurate. ‘In the near future, genetic tests may be a much better way to assign risk.’ DNA Screen project co-lead and Monash legal and genomic expert Dr Jane Tiller said Australia is ‘now at the point where we are falling behind’ in all-population DNA testing. ‘We’ve been saying for a number of years now, if we don’t move into this space as a country, we will fall behind,’ she told newsGP. ‘With all of the announcements that have been made in the last six to 12 months internationally, we are at that point.’ In the United Kingdom, national DNA testing is already in train, where infrastructure is being developed ahead of the introduction of national testing through its National Health Service. By 2030, every newborn baby in England will have their DNA mapped, in an effort to predict and prevent disease and, in turn, ease the burden on health services. The Singapore Government is also already actively rolling out public DNA screening. In November, it launched phase 3 of its National Precision Medicine program, which aims to collect genetic data from up to 450,000 patients by 2031. As part of the program, it had previously launched a national genetic testing program for FH. DNA Screen lead and Monash’s Head of Public Health Genomics, Professor Paul Lacaze, said the response to the call for pilot participants – more than 30,000 people registered for the 10,000 funded spots – shows a clear desire from young Australians with high genetic risk of preventive disease to access public screening. ‘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.’ Professor Morgan said ‘given the central role of GPs’, he would like to see how GPs will be engaged to co-design and help implement the program, and how it could be made widely accessible. ‘For proposed population screening it will be important to work out how to make the test accessible to all the population – not just highly motivated English-speaking people living in urban centres,’ he said. ‘Other questions that should be addressed include, “how will results be available into the future so the test does not need to be duplicated?” “How to gain consent for additional tests or better tests in the future without having to recollect specimens?”. ‘I look forward to a future where a one-off genetic test is carefully used to guide many healthcare interventions.’ The researchers are now seeking $50 million from the Federal Government to fund the 100,000-person ‘translational phase’ that will help shape implementation of a national program. Log in below to join the conversation.