Familial hypercholesterolaemia (FH) is a serious inherited condition that causes high cholesterol and early heart disease. It affects about 1 in 250 Australians. A single DNA test can diagnose FH; however, it is estimated that over 90% of Australians with the condition remain genetically undiagnosed. This is because genetic testing is typically only offered to people with symptoms or a family history of the condition. Without a diagnosis, those with FH miss out on effective treatments, like cholesterol-lowering medications, that can save lives.

Offering DNA screening to the general population—without limiting it to those who meet specific criteria—could be a more effective way to identify people at risk. Studies suggest this approach would be cost-effective within Australia’s public healthcare system, especially if combined with testing for other inherited conditions, like certain cancers. However, more research is needed to understand the practicality, acceptance and cost of such an approach.

In 2022, the DNA Screen pilot study launched to test this idea. Over 10,000 Australians aged 18–40 participated by signing up online, providing informed consent, and sending saliva samples by mail for DNA analysis. The study identified about 200 participants at high risk for conditions including FH. Those individuals received genetic counselling, referrals and ongoing support. The DNA Screen pilot study demonstrates how population-wide DNA screening can be used to prevent serious conditions like FH through early detection and personalised care.