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.