Genomic testing can provide information about a person’s increased risk of developing certain health conditions. This can be useful for prevention, tailored monitoring and earlier diagnosis. However, genomic information is not a crystal ball. It rarely provides definite answers and cannot predict with certainty whether someone will develop a condition, when symptoms may appear or how severe the condition might be. Instead, genomic testing offers information about risk, expressed as probabilities. Risk-based prevention can therefore be helpful, but it also comes with uncertainty. Understanding and communicating this uncertainty clearly is essential.
Even for conditions largely influenced by a single gene (for example, some hereditary cancers), genomic tests do not provide complete certainty. For common and complex conditions, such as diabetes, heart disease and many neurological conditions, uncertainty is even greater. These conditions usually result from a combination of many genetic factors, as well as lifestyle, environmental and social influences. As a result, the predictive accuracy of genomic tests for complex diseases is still debated, and results may be less reliable across populations.
A strong focus on genomic factors for preventing complex diseases also raises broader ethical and societal questions. If genetic factors are emphasised too heavily, there is a risk of overdiagnosis or the medicalisation of everyday health. There is also a risk that other important influences on health receive less attention, such as:
Effective prevention depends on taking all these factors into account, with genetics seen as one part of a wider picture rather than the sole explanation.
For genomic testing to be meaningful in a preventive setting, people need realistic and accessible ways to act on the information they receive. If a test identifies an increased risk of developing a condition, there should be clear options for follow-up, such as appropriate monitoring, treatment or support for lifestyle changes.
Decisions about which conditions to include in risk-based screening programmes should therefore consider whether effective treatment, monitoring or lifestyle support is realistically accessible for those who need them.
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