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The plan to save Australian lives with nationwide DNA screening
An ambitious vision to introduce mass genetic testing to the entire Australian adult population is being hailed as a solution to the country’s healthcare crisis. But can the health system cope?
Michael Smith Health editor
Oct 4, 2024 – 12.43pm
S even years ago, a scientist and a lawyer working together at Melbourne’s Monash University started collaborating on an ambitious idea.
They knew genetic testing could save lives and ease the burden on Australia’s stretched healthcare system by exposing the hereditary risk of certain cancers and heart disease early.
The science had been around for decades, but it was only more recently that the cost of testing huge numbers of people had come down, the internet was making the logistics easier and the technology existed to stabilise samples being sent by mail.
Jane Tiller, a lawyer and genetic counsellor who led a push to clamp down on life insurers using genetic information to discriminate against policyholders, was surprised DNA screening was not more widespread. Though many Australians were familiar with bowel cancer kits, pap smears and breast screenings, genomic screening was unreachable for most people. Many still do not know it is an option.
Geneticist Jane Tiller wants to scale up the genetic screening project to test 100,000 adults, a possible precursor to a nationwide program. Louis Trerise
Tiller teamed up with Paul Lacaze, a genomics researcher at Monash, to start working on a bold project to test 10,000 adult Australians for gene variants that increase the risk of certain hereditary cancers and heart disease. Logistically, it was challenging, and they needed government funding to make it happen. Their big breakthrough came in 2020 when the project received a $3 million government grant.
“Until then we weren’t sure if we would get funded. We weren’t sure if the health system was ready for this kind of thing,” Tiller says. “When we got that grant that changed everything and that set our course quite clearly in terms of what we were aiming for. We wanted an equitable screening program open to everyone for prevention.”
Tiller and Lacaze are now preparing to take their project called DNA Screen into its next important phase. They want to scale up the program to test 100,000 adults which, if successful, would be the precursor to a nationwide genomic screening program.
This means every adult Australian who wants a test could eventually have their DNA screened for free. Tiller and Lacaze say it would save countless lives by detecting the risk of disease early and save the healthcare system billions of dollars through prevention.
The projection estimates there are 318,000 Australian adults out of 20 million at high genetic risk of the three conditions they are screening for. Given half of those people on average are at risk of developing a cancer or coronary heart disease in their lifetime if it is left unidentified and untreated, they estimate up to 119,000 cancers and 40,000 heart attacks could occur if they are not identified.
“Our long-term goal is for every adult Australian who wants testing to be able to access genomic screening for disease prevention,” Tiller says. “If Australia was to do this, we would be world leaders. There is no country that has a national genomic screening program for adult prevention in the way we are proposing. It is feasible in Australia because of the size of our population, the decreasing cost of testing and our nationally funded healthcare system.”
DNA tests have been growing in popularity for the past decade. Millions of people, including celebrities such as Oprah Winfrey, are spitting into test tubes to learn about their ancestry, and police are using the science to solve crimes decades after they were committed. Screening as a way to detect the risk of disease is not new, but it is not widespread either.
Angelina Jolie inspired thousands of women to get tested when she had a double mastectomy in 2013 after a screening found a genetic mutation which meant she had a high risk of breast cancer.
While the idea of mass DNA testing for some sounds like something out of a dystopian science fiction movie, Monash says the demand was overwhelming when it launched its pilot in 2020.
Though the original plan was to recruit participants through social media over time, 10,000 people applied online on the first day after the story made the evening television news. “The interest was overwhelming. About 20,000 people signed up in the first week, and we had to turn our social media ads off,” Tiller says.
Monash University genomics researcher Paul Lacaze and senior research fellow and lawyer Jane Tiller teamed up to launch DNA Screen.
The tests screened for three adult genetic conditions: hereditary breast and ovarian cancer; Lynch syndrome (which increases the risk of colorectal and other cancers); and familial hypercholesterolaemia, which increases the risk of coronary heart disease.
After a simple eligibility test, saliva testing kits were posted to the participants. They would spit into a tube with a temperature stabilising solution and mail the samples back to Melbourne for testing in Monash’s labs. The total turnaround time varied but for many was about six weeks. Samples deemed high risk were then analysed by a curation team and people were notified about the results.
The results of Monash’s DNA Screen national pilot study found about 2 per cent of those tested were high risk. Three-quarters of those people would not have qualified for any reimbursed genetic testing based on current criteria in the public healthcare system. The study also meant Monash could deliver a detailed cost-effectiveness analysis for a nationwide screening program based on testing costs of $200 to $400 per test.
Figures published in The Lancet medical journal state that at $200 per test, genomic screening would be cost-effective under the Australian threshold, and would require an investment of $832 million to screen half of the Australian population aged 18-40.
Monash is waiting on a funding decision for what it is calling the bridging phase. It proposes an investment by the federal government of $50 million to screen 100,000 Australians in partnership with the Department of Health over four to five years as a precursor to a nationwide government-funded screening program, which could be considered as early as 2030.
One problem with identifying such large numbers of people at risk of cancer or heart disease at the same time is the pressure it would put on the country’s already stretched health system. If Monash’s projections are correct, downstream genetic services would be significantly stretched if they received thousands of referrals. Tiller says the goal would be to prepare the health system and genetics services ahead of time.
“We know that genetic services would be significantly overstretched if they received thousands of referrals, and new, streamlined models are required to effectively deliver population genomics. These models need to be developed and tested in real time to generate evidence and ensure system readiness,” she says.
Critically, to achieve the cost-effectiveness, some government investment needs to be shifted into prevention.
With Australia’s healthcare system facing growing pressure from an ageing population and funding shortfalls, doctors are backing the Monash proposal as another investment in prevention. While DNA screening will add pressure onto the system, they say it is better to identify the risks early and save lives and stop unnecessary treatment in the years ahead.
“The system is absolutely creaking at the seams at the moment and the only way to do it is to pivot from treatment to prevention,” says Steve Robson, former Australian Medical Association president who supports DNA Screen.
A key concern about mass DNA testing was addressed last month when the federal government announced a ban on genetic discrimination. This means people cannot be obliged to share their test results with life insurers, who are also not allowed to ask for them.
Potential data breaches also worry some people. Last year, more than 6 million customers at genetics testing company 23andMe had their data exposed to a data breach. Monash destroys samples if people request it but less than 10 per cent of those screened asked for this.
For some, the concept of screening an entire country’s adult DNA will sound dystopian even if it saves lives. The 1997 science fiction movie Gattaca tells the story of the near future where society is divided between those born or enhanced with more desirable genes and those who are not.
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There is no doubt this is an ambitious ‘biggie’ and there is also no doubt that prevention is a very good thing for all concerned.
Whether anyone can successfully execute such a huge intervention has to be unknown at this point and you can be sure it will cost more than the initial estimate. This is one of those projects where the costs and benefits need to be fully worked through and a pretty decently scaled feasibility study conducted at the very least!
If all that lines up it will be a political and funding decision to go ahead - - along with a public education campaign to get the populace on side!
David.
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