DNA Screen - About Us

The DNA Screen program is led by Professor Paul Lacaze, Monash University, School of Public Health and Preventive Medicine, in Melbourne.

The program is building the evidence base for population DNA screening in Australia and taking key steps towards a national DNA screening program. We recently completed a large pilot study and are working with key stakeholders, including state and territory health services and consumer groups, to achieve this vision.

Overview of the completed pilot study

Overview of the study

The DNA Screen pilot research study assessed a new approach of offering genetic testing to young adults in Australia. The study identified ~2% of individuals who have DNA variants that increase the risk of developing certain types of cancer and heart disease, and provided them with genetic counselling and support. The conditions for which we tested were: hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia (genetic high cholesterol). Combined, these conditions affect approximately 1 in 75 people. There are proven methods to manage or reduce the risk of these conditions. Secure DNA testing was conducted at Monash University, where all DNA samples and data have been stored.

Publicly funded testing (via Medicare) for these conditions is currently only available to a small number of people who meet restrictive criteria. Most people who have these variants do not currently qualify for testing. We aim to change this by developing an evidence base for the public acceptability, scalability and cost effectiveness of a national criteria-free DNA Screening program (similar to BreastScreen or the National Bowel Cancer Screening Program). In the national pilot study, we tested 10,000 people between the ages of 18 and 40 years. Most people (~98%) tested through this study did not have one of these DNA variants and will not have this increased risk.

Need for further government funding

Following the recently completed pilot study of 10,000 Australians, DNA Screen is now seeking further Australian Government investment for the next stage – a proposed implementation trial,over a period of 4–5 years, to answer critical implementation questions and build health-system readiness. The proposed implementation trial (2025–2029) will provide a bridge between research and roll-out of a national DNA screening program.

Research aims

The specific aims of the DNA Screen pilot study were to:

Consumer co-design and implement a recruitment strategy based on targeted social media advertising to engage young adults aged 18-40 years in population genomic screening
Deliver a low-cost DNA screening test by targeted sequencing (lab component of the project)
Assess the cost-effectiveness of offering this test in the Australian public healthcare system (through modelling)
Offer DNA screening to 10,000 representative young Australian adults (18-40 years)
Assess whether population DNA screening increases the number of individuals identified who have high-risk variants (index cases), and who receive preventative care, versus the current status quo of clinical criteria-based testing

Outcome and long-term goals

The study has helped to establish the evidence base for population DNA screening in Australia, and now acts as an critical platform to help determine whether DNA screening is scalable and cost effective in the Australian public healthcare system. This will be an important step toward the long-term vision of establishing a national DNA screening program to prevent cancer and heart disease in Australia.

Funding information

The study was funded by the Australian Government's Medical Research Future Fund Genomics Health Futures Mission from June 2021 to June 2025.

Ethics approval

This study was approved by the Alfred Hospital Ethics Committee and is conducted according to the National Statement on Ethical Conduct in Human Research (2007).

Study leadership and governance

The study was led by Monash University, School of Public Health and Preventive Medicine, in Melbourne. The Chief Investigator is Professor Paul Lacaze, Head of Public Health Genomics at Monash, who is supported by a team of researchers, healthcare professionals and patient group partners from around Australia (Find out more about the team here). The study is support and guided by an International Steering Committee and a First Nations Advisory Group.