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Researchers are campaigning for all-population DNA screening, and an RACGP expert agrees that GPs need to be involved for it to succeed.
More than 10,000 people have participated in DNA Screen via saliva samples.
An RACGP expert has called on GPs to ‘keep on top of the very rapidly changing’ field of DNA testing, as one Melbourne-based screening program recently showcased findings and sought further funding to expand its scope.
At an event at Parliament House last week, program members from Monash University’s DNA Screen shared results of their pilot program of 10,000 participants, as they campaigned for further federal funding for a five-year implementation trial.
The ultimate aim is for Australia to become the first country to offer preventive DNA screening through a public health system, said Professor Paul Lacaze, DNA Screen lead and Head of Public Health Genomics at Monash University.
‘This is about prevention,’ he said.
‘If we can identify people early, before disease develops, we can intervene, save lives, and reduce future healthcare costs.’
RACGP Expert Committee – Quality Care Chair Professor Mark Morgan, said GPs will be integral to an all-population DNA screening program.
‘The arguments are mounting for whole-of-population DNA testing,’ he told newsGP.
‘It will come down to conversations between well informed GPs and their patients.
‘We know that discussions with GPs make a huge difference to screening uptake. GPs will be central.’
DNA Screen, funded through the Australian Government’s Medical Research Future Fund, was launched in 2022.
Researchers from Monash University opened recruitment for 10,000 participants to take part in a pilot DNA screening study, to test for variants that might indicate a higher risk of certain diseases.
The response was beyond the study team’s wildest expectations, said Professor Lacaze.
‘We actually had 10,000 people sign up on the first day that recruitment was open,’ he told newsGP.
‘Now, over 30,000 people have registered to participate, and we’ve had to essentially put 20,000 people on a waiting list because we only had funding for 10,000 spots.’
The DNA Screen genetic test detects certain DNA changes that cause a high genetic risk of:
hereditary breast and ovarian cancer – including the BRCA1/2 genes
Lynch syndrome – high risk of colorectal cancer in both men and women, and endometrial cancer and ovarian cancer in women
familial hypercholesterolaemia – increased risk of heart disease or stroke due to high cholesterol from an early age.
Open to people aged 18–40 years, the study not only attracted registrants from all over Australia, but from a diverse range of backgrounds, with more than 40% from culturally and linguistically diverse backgrounds, and from ‘all kinds of postcodes and socio-economic groups’, says Professor Lacaze.
‘We were very pleasantly surprised and really thrilled with the public response that we’ve got,’ he said. ‘Across all segments of society in that young adult age range.’
Once deemed eligible, DNA Screen participants were posted a test kit for home-collection saliva sample.
Of those screened so far, one in 50 have been found to have a high genetic risk of cancer or heart disease, and are now in follow-up care and management.
Professor Morgan said it would be practical for GPs to offer DNA saliva tests through clinical consultations.
‘I would think that would be very straightforward, and far better to bring that into the fold with general practice than to have those kits provided outside of general practice … where that opportunity for pre- and post-consideration is lost,’ he said.
However, Professor Morgan said GPs would need to be funded for longer consultations.
‘It will be aided by two significant changes in the way that Medicare rebates work. These consults take longer than somebody presenting with a single condition for diagnosis and management, so we need to support longer consults,’ he said.
‘And secondly, preventive healthcare is not as planned and proactive and team-based across the lifespan as it should be.
‘I’ve long argued for health assessment item numbers, the range of people who are eligible for those, to be expanded.’
Professor Lacaze said for the program to expand to population screening and prevention, it ‘might make more sense’ for a person detected with a variant to be referred to their GP to discuss and develop a risk management plan.
‘Some people are saying this is what we have to do now, and it’s the only way this is going to scale, that this is the role of GPs, primary prevention, and that’s what we should be building,’ he said.
Additionally, GPs need to ‘keep on top of the very rapidly changing availability of testing and functionality of testing’, according to Professor Morgan.
‘It’s going to become a mainstream part of medicine, increasingly, so there is a need to keep up to date,’ he said.
‘We also need to know how to talk to people about results from testing, because some people are getting private tests done, and also to counsel people about the pros and the significant cons of having private testing done.’
Professor Morgan said the United Kingdom is already ‘building infrastructure for national testing as we speak’, ahead of the introduction of whole-population genome sequencing for every newborn baby in England by 2030 under the NHS.
He said that, similarly, infrastructure would be needed to support whole-of-population testing in Australia, ranging from secure storage facilities for test results and an increase in genetic counsellors, through to legislation to prevent insurance companies from accessing genetic testing.
‘There’s a need for insurance companies to be firmly put in a place where they’re not allowed now, or in the future, to introduce loadings based on genetic testing,’ he said.
‘Otherwise, that will act as a barrier to people having genetic testing because of insurance concerns.’
The age range of the DNA Screen participants is ‘exactly the age range’ that has limited contact with general practice, Professor Morgan said.
‘Many people in that age range don’t have multiple long-term medical conditions that would result in them seeing GPs regularly,’ he said.
‘So, a Medicare-funded health assessment eligibility throughout adulthood would be extremely helpful in setting up systems, including recall systems, to proactively look after your patients rather than waiting for them to come, because that’s an age range where people are busy and really only see their GP when they’ve got an acute need to.’
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