DNA screening study to identify cancer risk in young adults in Australia

A low-cost screening test to identify cancer risk in young adults is set to be developed as part of a new $2.97 million study at Monash University in Melbourne, Australia.

Once it is developed, 10,000 Australians aged 18-40 years old will be offered the test so that acceptability, cost-effectiveness and scalability of offering preventive DNA screening can be determined.

Dr Paul Lacaze, who will be leading the DNACancerScreen study, said: '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.'

The study will focus on screening for genetic changes associated with two heritable cancer syndromes. Hereditary breast and ovarian cancer syndrome, which confers a high risk for breast, ovarian, prostate and pancreatic cancer, and melanomas in those affected, and Lynch syndrome, which confers a high risk for colorectal, endometrial, ovarian and other cancers. Together these two syndromes affect one in 66 people.

As genetic testing is typically only offered to individuals with symptoms or a family history of these syndromes, therefore up to 90 percent of people carrying genetic mutations associated with one of these syndromes are currently missed.

'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,' said Dr Lacaze.

Before genetic testing for a hereditary cancer syndrome, genetic counselling is usually recommended to discuss the benefits and potential harms of possible test results, both medical and psychological. Individuals must consider implications for family members, the possibility of receiving an uncertain test result, and what, if any, beneficial measures can be taken should the result be positive. These measures could include more frequent checks, such as mammograms, changing personal behaviours to minimise additional risk factors, taking certain medications, or having surgery to remove 'at-risk' tissue.

A study previously conducted by Dr Lacaze modelled the health and economic benefits of screening of the four most common gene variants linked to increased cancer risk. The study predicted that screening for all 18-25 year olds in Australia would reduce cases of cancers attributed to these variants by 28.8 percent, saving 1270 lives. However, the screening was not predicted to be cost-saving, considering the current cost of the tests, but could be if the cost of the tests was halved.

Implementation of screening following completion of the study could make Australia the world's first nation to offer preventive DNA screening through a public healthcare system.