DNA Screen: what Australia’s national genetic screening study found
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This article is part of our guide to proactive health genetic screening.
DNA Screen, a national pilot study led by Monash University and published in Nature Health in January 2026, offered free genetic screening to Australians aged 18 to 40. Of the 10,263 people screened for ten genes associated with hereditary breast and ovarian cancer, Lynch syndrome and familial hypercholesterolaemia, 202 (about 1 in 50) carried a variant linked to a higher chance of one of these conditions. About half had no close relative with the related condition, and around three in four of those assessed would not have qualified for government-funded genetic testing.1 The findings suggest that relying on family history alone misses many people who could benefit from early checks and prevention.
Key takeaways
- DNA Screen tested 10,263 Australians aged 18 to 40 for variants in ten genes, and 2% (about 1 in 50) carried a variant linked to a higher chance of cancer or early heart disease.
- About half of the people with a variant had no parent, brother, sister or child with the related condition.
- Around three in four would not have qualified for government-funded genetic testing under current criteria.
- Most people found to have a familial hypercholesterolaemia variant had no signs of heart disease, which leaves time to lower their risk.
- The researchers are seeking funding for a larger next phase. In the meantime, genetic screening is a personal choice that is best made with good information and genetic counselling.
What was DNA Screen?
DNA Screen was designed to answer a practical question: could genetic screening be offered to young, healthy adults across Australia, and would people take up the follow-up care it led to? The study was funded by a $2.97 million grant from the Medical Research Future Fund’s Genomics Health Futures Mission.2 Australian citizens and permanent residents aged 18 to 40 could register online, and invitations were sent out between August 2022 and July 2024. Participants consented online, posted back a saliva sample and were screened at no cost.1
The screen focused on three groups of conditions for which prevention and early detection are well established. These were hereditary breast and ovarian cancer (the BRCA1, BRCA2 and PALB2 genes, and one specific ATM variant), Lynch syndrome (MLH1, MSH2 and MSH6) and familial hypercholesterolaemia, an inherited cause of high cholesterol (LDLR, APOB and PCSK9). Anyone found to carry a variant was contacted by a genetic counselling team and offered a referral to one of 11 clinical genetics services or lipid clinics around the country.1
What did the study find?
Interest was high from the start. After a single day of national media coverage, more than 30,000 people registered, which was three times the number of funded places, and a further 9,568 joined a waiting list over the next two years. Of the 12,307 people who consented and were sent a kit, 10,263 completed screening.1
Of those screened, 202 people (2.0%) carried a pathogenic or likely pathogenic variant, meaning a variant with strong evidence of a link to increased risk. BRCA2 was the gene most often involved, with 63 variants, followed by LDLR, the main familial hypercholesterolaemia gene, with 48. Uptake of follow-up care was also high. Almost everyone who needed a referral (97.9%) accepted it, and 87.3% attended a specialist appointment.1
Family history did not identify everyone
One of the clearest findings concerns family history, which is the main way people are currently identified for genetic testing in Australia. Among the 165 people who attended a clinic, 53.3% had no first-degree relative (a parent, brother, sister or child) with the related condition. That was true of 49.6% of those with a cancer-related variant and 61.5% of those with a familial hypercholesterolaemia variant. Most were also the first person in their family to have the variant identified.1
Eligibility for public testing showed a similar pattern. Overall, 74.5% of those assessed would not have qualified for any government-funded genetic testing. None of the 113 people with a cancer-related variant would have qualified to be the first person tested in their family, and 72.6% would not have qualified at all.1 Taking a family history is a cheap and simple first step, but commenting on the findings, Professor Mark Morgan of the Royal Australian College of General Practitioners said that relying on family history and testing relatives is not enough on its own.3
Many had time to act
The findings for familial hypercholesterolaemia show why timing matters. Of the 52 people with a variant, 96.2% had no sign of heart disease, yet 63.5% were not taking cholesterol-lowering medicine and 38.5% had not had their cholesterol checked in the past year. Of those not on medicine whose results were available, nearly all (13 of 14) had raised LDL cholesterol.1 For these young adults, the result created an opportunity to start prevention years before any heart problem could develop. Read more in hereditary heart disease.
“What stands out in DNA Screen is how many people had no family history to warn them. A genetic result is not a diagnosis, but it gives people and their doctors a head start, and for most of the conditions in this study there are well-established ways to lower risk or find problems early.”
Dr Mona Saleh, Head Genetic Counsellor, Genotype Health
What are the study’s limitations?
Like any pilot, DNA Screen has limits that help put its findings in context. Participants chose to take part, so they may not represent all young Australians. The screen looked at only ten genes and could not detect some larger genetic changes, so it would have missed some people with an inherited risk. Follow-up ended at the first clinic appointment, which means the study did not measure how many people went on to start screening, medicine or other prevention, and the psychological effects of receiving a result have not yet been reported.1 The authors also note that the chance of developing a condition may be lower for people found through population screening than for people from families with a strong history, because most published risk figures come from those families.1
Diversity is a further consideration. Around 30% of people screened described themselves as culturally or linguistically diverse, but genetic ancestry was not measured.1 Because most genetic reference data still comes from people of European descent, results for people of other backgrounds can be harder to interpret, which is one reason population-tailored testing matters.4 We explore this further in genomic equity.
What happens next?
The DNA Screen team has called for government funding for a larger next stage, involving 100,000 people, to work out how a national program could be delivered, with the long-term aim of a publicly funded screening program for adults.3,5 An earlier modelling study by the same group estimated that offering this kind of screening to Australians aged 18 to 40 would be cost-effective at a test cost of up to AU$325, and could prevent an estimated 63 cancers and 31 cases of coronary heart disease for every 100,000 people screened.6 No national program has yet been announced, so for now public genetic testing remains limited to people who meet clinical or family history criteria (see Medicare funding for genetic testing in Australia).
What does this mean for someone considering genetic screening?
DNA Screen shows that inherited risk is more common than family history suggests, but screening is not the right choice for everyone, and it is a personal decision. A result can bring useful information for both the individual and their relatives. It can also raise questions about family, insurance and next steps, and a negative result does not mean there is no risk, because most cancers and most heart disease are not inherited. Anyone weighing up screening can book an appointment with one of our genetic counsellors to talk these points through before deciding, or chat with Tara, our AI assistant, to find out more about our tests and which one, if any, may suit them.
Anyone with a known variant in the family, or a strong family history of cancer, heart disease or high cholesterol, should speak with a genetic counsellor or their GP first. A targeted diagnostic test may be more appropriate, and in Australia they may be eligible for government-funded testing through a public genetics service, listed in the directory of genetic services across Australia.7 Anyone with symptoms should see their doctor.
How proactive screening with Genotype Health compares
Genotype Health was not involved in DNA Screen. Its proactive screens are designed for healthy adults aged 18 and over who want to understand their inherited risk, and they include the genes tested in DNA Screen alongside others. Prevonco focuses on hereditary cancer (83 genes), Cordagen on inherited heart conditions, including familial hypercholesterolaemia (95 genes), and Omnagen covers both alongside other medically actionable conditions (181 genes). Population-tailored panels are available for Southeast Asian, Middle Eastern and North African, and Ashkenazi Jewish communities. Unlike DNA Screen, these are paid tests. Medicare does not fund proactive screening.
The process starts with a conversation with Tara, Genotype Health’s AI assistant, which provides general information and records personal and family history. Genotype Health uses a simple cheek swab, also known as a buccal swab, collected at home, and results are delivered securely online in about four weeks. If a variant is found, a genetic counsellor explains what it means and the medical follow-up to discuss with a doctor, and blood relatives can be offered Family Variant Testing for the same variant. A screening result is not a diagnosis of disease. It shows an increased risk, which may also be relevant for relatives.
Considering proactive genetic screening?
Find out what each screen covers and whether one may suit you: Explore our proactive screens.
Prefer to talk it through first, or is there a condition in the family? Speak to a genetic counsellor.
What else do people ask about DNA Screen?
Is DNA Screen still recruiting?
No. The pilot’s 10,000 funded places were filled, and screening has finished. The researchers are seeking government funding for a larger next phase.
Was DNA Screen run by Genotype Health?
No. DNA Screen was led by Monash University and funded by the Medical Research Future Fund. Genotype Health was not involved in the study.
Why did DNA Screen only include people aged 18 to 40?
The researchers aimed to identify inherited risk while people are old enough to give informed consent, and young and healthy, before disease develops, so that there is time for prevention and early detection.
Does a negative screening result mean there is no inherited risk?
No. A negative result means no variant was found in the genes tested. Other genes, family history and lifestyle still matter, so usual health checks remain important.
Can life insurers in Australia use genetic test results?
From 8 October 2026, life insurers in Australia cannot use adverse genetic test results to deny or limit cover. They can still consider symptoms and diagnosed conditions. See genetic testing and your insurance.
Is proactive genetic screening covered by Medicare in Australia?
No. Medicare does not fund proactive screening for healthy people. Government-funded testing is available for people who meet clinical or family history criteria, usually through a public genetics service.
Related reading
- Proactive health genetic screening: a complete guide
- A GP’s guide to referring patients for proactive health screening
- Hereditary cancer: a complete guide to inherited cancer risk
- Hereditary heart disease: when genetic testing changes the picture
References
- Lacaze P, Tiller J, Brotchie A, Nguyen-Dumont T, Steen J, Belluoccio D, et al. Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot. Nat Health. 2026;1(1):90–8. doi:10.1038/s44360-025-00020-x
- Monash University. World-first preventative DNA screening for cancer and heart disease risk [Internet]. Melbourne: Monash University; 2022 Aug 21 [cited 2026 Oct 8]. Available from: https://www.monash.edu/news/articles/world-first-preventative-dna-screening-for-cancer-and-heart-disease-risk2
- Roberts J. Renewed push for national DNA screening program. newsGP [Internet]. Melbourne: Royal Australian College of General Practitioners; 2026 Jan 21 [cited 2026 Oct 8]. Available from: https://www1.racgp.org.au/newsgp/clinical/renewed-push-for-national-dna-screening-program
- Popejoy AB, Fullerton SM. Genomics is failing on diversity. Nature. 2016;538(7624):161–4. doi:10.1038/538161a
- Monash University. National genomic screening program would save thousands of Australians from preventable cancer and heart disease [Internet]. Scimex; 2026 Jan 16 [cited 2026 Oct 8]. Available from: https://www.scimex.org/newsfeed/national-genomic-screening-program-would-save-thousands-of-australians-from-preventable-cancer-and-heart-disease
- Lacaze P, Marquina C, Tiller J, Brotchie A, Kang YJ, Merritt MA, et al. Combined population genomic screening for three high-risk conditions in Australia: a modelling study. eClinicalMedicine. 2023;66:102297. doi:10.1016/j.eclinm.2023.102297
- Centre for Genetics Education. Genetic services [Internet]. Sydney: NSW Health; [cited 2026 Oct 8]. Available from: https://www.genetics.edu.au/SitePages/Genetic-Services.aspx
