Genetic testing is often seen as a way to get clear answers, and for many patients it does exactly that. For others, the result raises as many questions as it settles. As a referrer, you are often the first person they turn to afterwards, so knowing how to support them through that uncertainty can make a real difference.
What genetic uncertainty looks like
Uncertainty can show up in a few different ways:
- A variant of uncertain significance (VUS): a change in a gene where there isn’t yet enough evidence to say whether it causes disease.
- An uninformative negative result: no variant is found, but the personal or family history still points to an inherited cause.
- Reduced penetrance or unexpected findings: a variant linked to a condition that not every carrier develops, or a result unrelated to the original question.
Each of these can leave patients feeling unsettled, especially if they were hoping for a definite answer.
Start the conversation before testing
The best time to prepare a patient for uncertainty is before the sample is collected. Letting them know early that a result may be unclear helps set realistic expectations and reduces the shock if it happens. Pre-test genetic counselling gives patients room to think about what they want to know, how results might affect their family, and how they might feel if the answer isn’t straightforward.
Don’t let a VUS drive management
A VUS should not be treated as a positive result. Decisions about screening, surveillance or risk-reducing surgery should be guided by the patient’s personal and family history, not by the variant itself. Patients sometimes read a VUS as “half positive”, so a clear and consistent message from everyone involved in their care really matters.
Remember that results can change
Genetic knowledge moves quickly. As evidence builds, variants are reclassified, and most VUS findings are eventually downgraded to benign. Encourage patients to keep their contact details up to date with their genetics service and to get in touch if their family history changes. A negative result from several years ago may also be worth revisiting, as testing has improved considerably.
Acknowledge the emotional side
Living with uncertainty can be harder than receiving a clear result. Some patients feel anxious, others feel frustrated or let down by the process. Simply acknowledging that these reactions are normal can be reassuring. Keep an eye out for signs that worry is affecting day-to-day life, and consider additional psychological support where it’s needed.
Think about the family
Genetic results rarely affect just one person. Patients may be unsure what to tell their relatives, especially when the result itself is unclear. Genetic counsellors can help patients work out who needs to know, what to say, and when testing for relatives is (or isn’t) useful.
How Rosalind Genetics can help
At Rosalind Genetics, our genetic counsellors, clinical geneticist, and medical oncologist work with patients before and after testing to help them understand complex or uncertain results. We can also review older results in light of current knowledge.
Because we see patients exclusively via telehealth, we can support people anywhere in Australia, including those in regional and rural areas who may otherwise face long waits or travel. We welcome referrals from GPs and specialists. Patients can also contact us directly, and we’ll ask them to obtain a referral from their doctor.
Uncertainty is part of genetics, but your patients don’t have to navigate it alone. If you have a patient who could benefit from support, we’d be glad to help.
