DNA Screen is a research study assessing a new approach of offering genetic testing to young adults in Australia. The study will identify individuals who have DNA variants that increase the risk of developing certain types of cancer and heart disease, and provide them with genetic counselling and support. The conditions that we are testing for are: 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 will be conducted at Monash University, where all DNA samples and data will be 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 this national pilot study, we will test 10,000 people between the ages of 18-40 years. Most people (~98%) tested through this study will not have one of these DNA variants and will not have this increased risk.

The specific aims of the DNA Screen study are to:

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

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

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

The study is led by Monash University, School of Public Health and Preventive Medicine, in Melbourne. The Chief Investigator is Associate 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.