World-First Preventative DNA Screening for Cancer and Heart Disease Risk

Until now, genetic testing for the DNA changes that increase the risk of cancers and heart disease has only been available on a small scale for those with a known family history or prior disease diagnosis. Population testing, open to everyone, has the potential to drastically improve access and maximize the preventive benefits of DNA testing. Now, a world-first DNA screening study will provide young Australians with access to a free DNA saliva test in order to learn whether they face increased risk of some cancers and heart disease, which can be prevented or treated early if detected.

The collaborative project, led by scientists at Monash University (Melbourne, Australia) and supported by researchers and clinicians across Australia, will screen at least 10,000 people aged 18-40 for genes that increase risk of certain types of cancers and heart disease that often go undetected. DNA Screen is the world’s first preventive DNA screening study designed specifically to assess population DNA screening through a national healthcare system. DNA Screen will identify people with DNA variants in the BRCA1 and BRCA2 genes that lead to an increased risk of hereditary breast and ovarian cancer in women. These genes are also linked to breast and prostate cancer in men, although not as strongly. Men and women who carry DNA variants in the BRCA1 and BRCA2 genes can also pass them onto their children.

The DNA Screen test will also focus on Lynch Syndrome - another condition that increases risk for colorectal, endometrial, and other gastrointestinal cancers. Both cancer-related conditions have effective, proven interventions available to reduce risk if identified early. This includes attending annual check-ups and screens from age 30, and the option of risk-reducing surgery for some people. Early detection and prevention are often life-saving for cancer. The DNA test also encompasses heart disease risk, focusing on familial hypercholesterolemia (FH) or ‘genetic high cholesterol’, which results in high risk of heart disease from a young age. Despite effective medications such as statins being available to reduce risk, an estimated 95% of FH carriers are currently undiagnosed.

The test is free and involves placing a saliva sample into a small tube received by mail, and sending it back in a postage paid envelope. Those found to be at high risk after DNA testing – about one in 75 or 1.3% – will have their situation explained by experts and be offered genetic counseling and prevention measures, such as regular scans and check-ups. DNA Screen, which is recruiting young people via social media, is expected to save lives and could lead to a wide scale preventive DNA testing program for cancer and heart disease risk, where early detection and prevention can be life-saving. The project enables a more efficient and equitable approach to genetic testing, identifying far more people at high risk than current testing methods. DNA Screen is available to everyone in Australia aged 18-40, from all socioeconomic levels, urban/rural residents, and culturally and linguistically diverse communities. The eventual goal is to develop a new population-based DNA screening program that could be offered through the Australian public healthcare system, available to everyone but targeted on certain medically-actionable conditions where early detection is key.

“Providing genetic testing based on family history alone is not enough. Up to 90 per cent of those at high risk in the general population are not identified by current family history-based testing,” said Monash University’s Associate Professor Paul Lacaze. “Most people don’t find out about their genetic risk until it’s too late, like after an incurable cancer or heart attack is diagnosed. We want to change that.”

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