Most genetic testing today only happens after someone gets sick or has a strong family history. But scientists are now exploring a different approach: genomic screening for healthy adults, to find hidden risks before disease develops.
A major pilot study in Australia offered free genetic screening to 10,263 adults aged 18–40, checking 10 genes linked to serious but preventable conditions such as hereditary breast and ovarian cancer, Lynch syndrome (which increases colorectal cancer risk), and familial hypercholesterolaemia (genetic high cholesterol).
What the Study Did
Participants provided DNA samples and were tested for specific genetic variants known to raise disease risk. The goal was to see if such a program could work at a population level—would people engage, would they follow up clinically, and how often would meaningful results show up?
Key Findings
- About 2% of people tested were found to carry a pathogenic or likely pathogenic variant that significantly increases disease risk.
- Almost all referred participants (97.9%) chose to follow up with clinical care, and most (87.3%) attended appointments.
- Notably, nearly three-quarters of those with actionable results would not have qualified for testing under current eligibility rules, meaning they likely would have remained unaware of their risk without this screening.
Why This Matters
This pilot shows that population-wide genomic screening is feasible: people are willing to participate, and healthcare systems can follow up effectively. It also reveals a significant hidden burden of high-risk genetic variants in young adults who wouldn’t normally be tested.
Identifying these risks early allows people and their clinicians to take preventive actions—such as increased surveillance, lifestyle changes, or preventative treatments—potentially reducing disease and saving lives.
Researchers believe these results support the expansion of genomic screening programs, not just in Australia but in other countries too, to shift genetic testing from reactive (after disease) to proactive (before disease).
Read more at https://www.nature.com/articles/s44360-025-00020-x
Interesting.