Nurses’ consistent and correct use of genomics terminology is critical to reduce confusion and provide safe genomics care to patients and their families, especially when explaining the meaning of genomic tests or findings.
What Is a Variant?
The term variant is regularly used in oncology care. A variant is an alteration in the most common DNA or RNA sequence. Although the term is synonymous with the word mutation, in 2015 the American College of Medical Genetics and Genomics and the Association for Molecular Pathology recommended that the terms mutation (implying a harmful alteration) and polymorphism (implying a harmless alteration) be replaced with variant used with the following modifiers: pathogenic, likely pathogenic, uncertain significance, likely benign, or benign.
Variants are a type of biomarker and can be tumor specific (somatic) or inherited (germline). Determining the pathogenicity of a variant is critical to understand a patient’s future cancer risks, identify cancer surveillance and risk-reducing interventions, and select the most effective treatment.
Prepare Your Patients for Variants of Uncertain Significance
About 10%–20% of germline tests with a multigene panel identify one or more variants of uncertain significance (VUSs), which means we do not yet have enough information about the variant to know if it is harmful or harmless or use it to make treatment decisions. Although patients should be informed of the possibility during pretest education and counseling, receiving a VUS finding can be confusing and frustrating because it is not actionable.
Preparation for the possibility of receiving a VUS result during pretest genetic counseling is reported to help patients become more tolerant of the uncertainty surrounding VUS. Unfortunately, not all patients are prepared, and oncology nurses must be sensitive to the context in which a patient and family receives a VUS finding. Breaking down the information into smaller segments using a question-and-answer approach may also be helpful.
How to Explain Variants to Your Patients
Patients and families can be overwhelmed with genomics terminology, but nurses can use creative ways and ONS tools to help them understand. An analogy is one strategy to explain an unfamiliar or difficult concept by showing its similarity to a more familiar one.
ONS’s Understanding Genetic Variants discussion tool uses a baking analogy to explain the difference between a pathogenic or likely pathogenic variant, benign or likely benign variant, or VUS. Nurses can use the tool to guide conversations to help patients understand their test results. The tool has a companion Facilitator Guide for educating nurses in individual and group settings, both in person and virtually.
ONS’s Talking to Your Patient About a Germline Variant of Uncertain Significance provides information about VUSs, including definitions, incidence rates, implications for family members, reclassification as more data becomes available, and additional resources. The guide uses a question-and-answer format to provide clear, concise information for patient education sessions.
Nurses can use both resources when reviewing test results and reports with their patients. Helping patients to understand that a benign, likely benign or a VUS result is not actionable and that their care recommendations will be based on their personal and family medical history is very important to providing safe care. Patients with positive test results benefit from having specific instructions about the recommendations for care and rationale.
By recognizing and acknowledging that biomarker testing can be anxiety provoking for patients and supporting them through education and referral to a genetics professional for more in-depth counseling and education, oncology nurses have the opportunity to improve outcomes for patients and families.