Key points
- A world-first DNA Screen study found 1 in 50 young Australians at high genetic risk of cancer or heart disease
- Some will share their stories at an event tomorrow at Canberra's Parliament House
- Parliamentary Friends of Genomics and Genetic Treatment will host the event.
A landmark event at Parliament House in Canberra will highlight the power of genetic screening to prevent life-threatening diseases, with participants of the Monash University-led national DNA Screen study sharing their personal stories of discovery, risk and prevention.
The study tested around 10,000 Australians aged 18–40 and identified 1 in 50 (202 people) with genetic variants that put them at high risk of cancers or heart disease that can be prevented or treated early.
Participants with high-risk results were provided genetic counselling and referrals to local public genetics services, offering a pathway to increased surveillance and prevention.
Hosted by the Parliamentary Friends of Genomics and Genetic Treatment, co-chaired by Dr Mike Freelander MP and Dr Anne Webster MP, tomorrow's event will showcase DNA Screen - Australia's first pilot of preventive DNA screening in young adults.
Professor Paul Lacaze, DNA Screen lead and Head of Public Health Genomics at Monash University said: "This is about prevention. If we can identify people early, before disease develops, we can intervene, save lives, and reduce future healthcare costs. DNA screening has the potential to transform public health in Australia."
Dr Jane Tiller, study co-lead and Ethical, Legal and Social Adviser in Public Health Genomics at Monash University said: "DNA Screen was wildly popular, with tens of thousands of young people registering their interest. Young Australians want genetic risk information to enable them to take preventive steps for their health. We must ready the health system for population DNA screening, and start to use genomic information to prevent disease, as well as for diagnosis and treatment."
The DNA Screen genetic test detects certain changes in DNA that cause a high genetic risk of developing these three conditions:
- Hereditary breast and ovarian cancer (HBOC) – including the BRCA1/2 genes –high risk of breast and ovarian cancer in women and prostate cancer in men.
- Lynch syndrome (LS) – high risk of bowel (colorectal) cancer in both men and women, and endometrial cancer and ovarian cancer in women.
- Familial hypercholesterolaemia (FH) - increased risk of heart disease or stroke due to high cholesterol from an early age.
For these conditions, effective, proven risk-reducing interventions are available for prevention and/or treatment if detected early.
Real lives impacted Young at-risk Australians, who were identified through DNA Screen and will share their stories at the event, include:
- Georgie (age 33) from Hobart has a BRCA2 variant linked to HBOC. "When I found out I had the BRCA2 gene it was a bit of a shock. Now I feel a lot better and I know I can do something about it," she said. Since receiving her result, Georgie had appointments with genetic counsellors and a breast surgeon to consider surgical options, and organised an annual MRI. She said: "After a while you realise that I can actually prevent something and have more control over my health. I think it's important so people can have some control and prevent cancer before it happens."
- Ben (age 39) from Sydney carries a PALB2 variant associated with HBOC. "When I received the results, I was caught entirely off guard. I wasn't aware of any significant family history that would have given me cause to get tested. I only found out because of this pilot program. That knowledge changed everything and has empowered me to have conversations with family members about the importance of getting tested, making health and lifestyle changes, and putting into place prevention strategies to ensure the gene is not passed on to future generations of our family," he said. Since taking the test, Ben has encouraged his broader extended family to get tested and has discussed screening options with a genetic counsellor. He has also made personal lifestyle changes to reduce his cancer risk, including losing weight and reducing alcohol consumption.
