Interpreting results

Introduction

Genomics can provide valuable information about people’s health, their relatives and even future children. This knowledge can help guide medical decisions, improve treatments and support prevention. However, the results of genomic tests are not always straightforward or easy to interpret, and they may not always match people’s expectations. Uncertainty is therefore an inherent part of genomics that must be carefully understood and managed.

Uncertain results

When a genetic variant is detected, it may indicate an increased risk of developing a certain condition. However, for many variants, the impact on health is not yet known, and clinicians cannot determine if a variant is harmless or whether it is associated with a real health risk.

These findings are often referred to as variants of unknown significance (VUS). Scientific research may provide more clarity in time, but this will require extensive data and long-term study. In the meantime, uncertain results raise important questions, such as:

Should these findings be shared with patients?
Could they cause unnecessary worry or distress?
Do healthcare professionals have a responsibility to regularly check these variants as new knowledge emerges and recontact patients if interpretations change?

There is no simple or universal answer to these questions, and approaches vary across healthcare systems.

Unexpected findings

Genomic testing can also produce unexpected results. A person may undergo testing for a specific reason, such as investigating a particular illness or through family (cascade) screening, but the test may reveal an increased risk for an unrelated condition. While this information can enable prevention or early detection, it can also be distressing. As a result, there has been significant debate about:

Whether people should be able to choose if they receive such findings;
How informed consent should be handled;
Whether clinicians should disclose information that falls outside the original reason for testing.

The role of genetic counselling

Uncertain and unexpected results emphasise the importance of genetic counselling. Professional counselling can help people interpret their results and understand potential consequences. However, counselling is delivered in many different ways across countries and, in some cases, there is no clear regulation or official guidance for counselling practices. This can lead to variation in quality, access and consistency of support, even though effective counselling is essential for helping people make informed decisions.

Avoiding genetic determinism

Correct interpretation of genomic information is also important to avoid genetic determinism – the idea that genes alone determine health or future outcomes. While genomics offers significant medical and societal benefits, over-promising or over-emphasising genetic factors can be misleading. Health is shaped by many factors, including lifestyle, environment and social conditions. Presenting genomics as one part of this broader picture helps ensure that citizens have a realistic and trustworthy understanding of what genomics can and cannot offer.