Landmark new DNA screening study to offer free genetic testing to young adults for cancer risk

Associate Professor Paul LacazeA landmark new DNA screening study to identify cancer risk in young adults will go ahead, after Monash University researcher Associate Professor Paul Lacaze was awarded a $2.97 million Medical Research Future Fund (MRFF) grant today. The study will develop a new low-cost DNA screening test which will be offered to 10,000 young Australians. The new approach, once scaled-up, has the potential to drastically improve access to preventive genetic testing in Australia, and could help make Australia the world’s first nation to offer preventive DNA screening through a public healthcare system.

The new study – ‘DNAScreen’ – will investigate the acceptability, cost-effectiveness and scalability of offering preventive DNA screening to healthy young adults aged 18 to 40 years for cancer prevention.

Currently, clinical genetic testing to detect DNA changes that increase cancer risk (found in around 1 in 66 adults) is only offered to a proportion of those with symptoms or family history of cancer.

This misses up to 90% of high-risk individuals in the population who carry these genetic risk variants, who mostly remain undetected and unaware of their risk.

The study aims to fill this gap, identifying people who are living with a heightened cancer risk who would ordinarily be informed only after a potentially incurable cancer is diagnosed.

Participants will be recruited via a targeted social media campaign, and then invited to help co-develop the screening program as a pilot group.

A/Prof Lacaze heads up the Monash School of Public Health and Preventive Medicine’s Public Health Genomics Unit. He says, “This is a welcome investment to help Australia make the critical move into a new paradigm of preventive DNA testing at population-scale, to identify people at high genetic risk of cancer while they are still young and healthy.

“This will help empower young Australians to take pro-active steps to mitigate risk, for earlier detection, surveillance from a younger age, and prevention of cancer altogether. This type of preventive DNA testing will not only save lives, but also save the Australian public healthcare system money by preventing thousands of cancers.”

Together with a team of internationally recognised leaders in genomics, oncology, epidemiology, clinical genetics and health policy, A/Prof Lacaze will develop a new DNA-based screening tool for the program, and help accelerate its implementation into the Australian healthcare system.

The screening will search for genetic changes associated with two well-characterised familial cancer syndromes: Hereditary Breast and Ovarian Cancer (HBOC) and Lynch Syndrome (LS). Together these syndromes affect 1 in 66 people. Effective, proven interventions to reduce risk are available for them once risk has been identified, supported by existing clinical guidelines.

HBOC confers a high risk for breast, ovarian, prostate and pancreatic cancer, and melanomas in those affected, while LS confers a high risk for colorectal, endometrial, ovarian and other cancers.

A/Prof Lacaze says, “Whilst genetic tests have been available for these cancer predisposition syndromes for many years, they’ve only been offered to a very small number of people. My vision is to use them in a far more widespread, scalable and preventive way, to find far more people in the population at high risk, offering them access to preventive care and informed decision making far earlier”.

Current targeted screening programs in Australia are estimated to miss 50-90% of people carrying mutations in the BRCA1 and BRCA2 genes which are associated with HBOC, and around 95% of those carrying Lynch Syndrome gene changes.

Population genomic screening is low-cost tool to implement, and can result in major health savings via reduced hospitalisations where cancer is avoided, delayed or detected early.

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