Genetic testing has become an increasingly common part of modern healthcare, offering insights into an individual’s genetic makeup. While these tests can provide valuable information, they sometimes yield results that are not entirely clear-cut. One such result is a Variant of Uncertain Significance (VUS). This finding indicates a genetic change whose impact on health is not yet fully understood. Explaining a VUS result to patients requires careful communication to ensure clarity, compassion, and accurate understanding of its implications.
Understanding a Variant of Uncertain Significance
A VUS represents a change in a person’s DNA sequence where insufficient evidence exists to determine if it is harmless or disease-causing. Laboratories use a five-tier classification system for genetic variants; a VUS falls into the “uncertain” category because available data is not enough to classify it as benign or pathogenic. This uncertainty often arises because the variant is rare, novel, or there’s conflicting information about its effects. VUS findings are common in genetic testing, especially with larger gene panels; some studies indicate that 20% to 40% of genetic tests identify at least one VUS.
Core Information to Convey
When discussing a VUS result, clearly state that a change was found in a gene, but its connection to health or the condition being investigated is not yet known. Emphasize that this finding is not a definitive diagnosis of a genetic disease. The presence of a VUS does not mean a patient will necessarily develop a specific condition, nor does it rule out a genetic cause for their symptoms.
Patients should understand that no immediate medical action is typically required based solely on a VUS result. Clinical management and medical decisions should continue to be guided by the patient’s personal symptoms, family medical history, and other test results, rather than by the VUS itself. Testing other family members for a VUS is generally not recommended, as it usually does not clarify health risks or change medical care.
Patients should be informed that VUS variants can be reclassified over time as more scientific information becomes available. This reclassification happens as laboratories gather new data from research, other patients with similar variants, and advanced functional studies. Most reclassifications of VUS results tend to be downgraded to benign, with fewer than 10% reclassified as pathogenic.
Strategies for Effective Communication
Effective communication requires clear, simple language free of medical jargon. Using analogies, such as comparing a VUS to a spelling error in a book where it is unknown if the error changes the story’s meaning, can aid understanding. Encouraging questions and actively listening to patient concerns are essential components of the discussion. Healthcare providers should acknowledge and validate any emotions the patient may express, such as anxiety, confusion, or relief. A compassionate and empathetic approach helps build trust and ensures the patient feels supported through the uncertainty.
Setting realistic expectations about the VUS and the potential for future reclassification is important. Providing written summaries of the discussion or directing patients to reliable educational resources can reinforce the information and allow them to review it at their own pace.
What Happens Next
Patients should be informed that a VUS can be reclassified over time as new scientific data emerges. This ongoing process involves laboratories continually gathering more information, such as population data, functional studies, and findings from other individuals with the same variant. Reclassification can take months, years, or even longer, and some VUS results may never be definitively reclassified.
When a VUS is reclassified, the laboratory that performed the initial test will typically send an updated report to the genetic counselor or ordering healthcare provider. The genetic counselor then contacts the patient to explain the updated results and their implications. This emphasizes the importance of maintaining up-to-date contact information with the healthcare team.
Genetic counselors play a significant role in providing ongoing support and clarification regarding VUS results. They can help patients navigate the uncertainty and understand any new information that becomes available. Clinical management should continue to be based on the patient’s individual symptoms and family history, rather than solely on the VUS finding.