DNA screening for high-risk hereditary disease gene variants
The DNA Screen national pilot study offers preventive DNA testing to healthy young adults aged 18-40. The study will test for gene variants that increase the risk of hereditary diseases, including:
- Breast, ovarian, prostate, and pancreatic cancer and melanoma
- Lynch syndrome, which causes bowel and other gastrointestinal and endometrial cancer.
Effective medical interventions are available for people at high genetic risk of these conditions, says Associate Professor Paul Lacaze from Monash University.
‘These conditions are fairly common in the population but are chronically underdiagnosed. Improving detection rates is an unmet need in public health, and emerging opportunity for genomic prevention,’ Paul says.
‘Identifying people with high-risk gene variants empowers them to make more informed decisions about their future health. They can reduce their risk and enable early detection and prevention of cancer and heart disease.’
Around 98% of people tested in DNA Screen will not have high-risk gene variants. But for the 2% who do, discovering this risk could save their lives. The study will provide them with genetic counselling and support.
DNA Screening for the whole population
At present, Australians can access genetic testing for high-risk gene variants through Medicare if they meet particular criteria. This includes a previous diagnosis of cancer or heart disease and/or a family history of genetic disease.
For example, Eve Olsson had genetic testing after her father developed bowel cancer, aged 38, and was diagnosed with Lynch syndrome. Eve found out she inherited the gene for Lynch syndrome from her father when she was just 16.
‘Obviously it's not the news you want to hear,’ Eve tells us. ‘Having Lynch syndrome is certainly difficult. However, it has enabled me to access important services from a younger age, such as colonoscopies. I also connected with a gynaecological oncologist to talk about other cancer risks.
‘It may be scary stuff, but I feel that I have a much better chance of not getting cancer because I know I have Lynch syndrome. And I feel like everyone deserves that chance.’
A huge amount of interest
The benefits of knowing early if you have genetic predisposition to cancer or heart disease could explain the huge amount of public interest in the pilot study. This took Paul by surprise, but he was delighted.
‘We always suspected the community wants more access to genetics. Genetics applies to everyone,’ Paul says.
Paul would like to expand the study to include all 20,000 people who registered. But the team currently only has capacity to screen 10,000 people. ‘One day we hope to be able to screen everyone who registered and many more people,’ Paul says.
Building an evidence base for population DNA screening
Paul and the research team designed the pilot study to build an evidence base for a future nation-wide DNA population screening program in Australia. Paul hopes the study will show DNA screening:
- finds more people with high-risk gene variants to help prevent some cancers and other diseases
- is cost effective
- is acceptable to the public.
With such a positive early public response already demonstrated, Paul says, ‘we know now that the public demand and acceptability is there. So, it's very exciting.
‘But we still need to demonstrate the feasibility of offering population-scale DNA testing in Australia’.
Expanding the study
If the study shows population scale DNA screening is feasible, Paul hopes to expand DNA Screen into a second stage. This would offer DNA screening to 100,000 people or more. Then, if successful, the program would expand further to 1 million people and beyond.
Paul hopes eventually Australia will be the first country to offer free population DNA screening to everyone.
‘There's many more years of research to come,’ he says. ‘What we're trying to do now is bring key people together to build this new public screening program step by step.’
Achieving a lifetime goal
In 2000, the year Paul graduated from high school, scientists published the human genome sequence for the first time. This event inspired Paul to dedicate his career to genetics.
‘I’ve always been fascinated by the question of what will society be like if everyone has access to genetic screening,’ Paul says. ‘There are dystopian views of this outcome, like the science fiction film Gattaca. But I believe genetic screening can be done securely and safely to help people have healthier, longer lives. This will benefit public health.’
Paul spent years preparing to lead the DNA Screen study and test this view. ‘I did a PhD in genomics and then worked in the technology industry for 4 years in DNA sequencing. The industry is advancing rapidly, making all this possible.
‘Then I pivoted into public health research. I had to learn how to deliver a program to the public in a responsible, evidence-based way.’
The MRFF also played a key role in making the study a reality, Paul says. ‘The MRFF Genomics Health Futures Mission really changed the game for genetics research in Australia. This project would not have happened without it.’
The MRFF supported DNA Screen with a grant of $3 million.