A new study published in the journal Nature Health shows that large-scale genomic screening of healthy young adults can identify serious genetic risks for cancer and cardiovascular disease long before symptoms appear.

Researchers conducted a national pilot project in Australia involving adults aged 18 to 40 with no previously diagnosed hereditary conditions such as hereditary breast and ovarian cancer, Lynch syndrome, or familial hypercholesterolemia. Traditionally, genetic testing has been recommended only for people with a strong family history of disease, but this study demonstrates that such criteria miss a substantial proportion of individuals at high risk.

As part of the project, more than 30,000 people registered for screening following nationwide media coverage, and about 10,263 ultimately underwent genetic testing.

The genetic analysis identified pathogenic or likely pathogenic variants in genes in 202 participants, representing approximately 2% of those tested. The most frequently detected variants were in the BRCA2 gene, associated with hereditary breast and ovarian cancer, and the LDLR gene, linked to familial hypercholesterolemia—a condition that increases the risk of cardiovascular disease. Nearly all participants (98.1%) were previously unaware of these genetic risks and had no diagnoses, highlighting the ability of screening to uncover hidden threats.

Individuals found to carry high-risk genetic variants received genetic counseling and were referred to relevant specialists for confirmatory testing and the development of preventive strategies.

Many were enrolled in enhanced health surveillance programs, early cancer detection screening, or lipid level monitoring, which may reduce the risk of serious cardiovascular events in the future.

The researchers note that genomic screening has the potential to shift medicine from reactive treatment to proactive prevention, but they emphasize the need for further study of long-term outcomes, effectiveness, and cost-efficiency of such programs, especially in diverse populations.