Abstract
Variants of uncertain significance (VUSs) can introduce uncertainty and frustration into the genetic testing process for both patients and clinicians. However, as VUSs can be reclassified to become useful for patient clinical management, the goal is to move reclassification forward. Reclassification guidelines recommend a shared responsibility between clinics, laboratories and patients; however processes vary, introducing inefficiency and inequity. We surveyed clinical genetic counselors (GCs) through the National Society of Genetic Counselors (NSGC) list-serv to understand their VUS tracking and reassessment management processes. The survey consisted of a mixture of multiple-choice and Likert scale questions with options for open-ended responses. Analysis included descriptive statistics, Chi-squared tests, Fisher’s Exact Test, T-tests and analysis of open-ended responses for themes. We analyzed 79 responses and found that 41% (SD = 0.50) of respondents said they do have an internal tracking method for their VUSs and for those that did have an internal tracking system, the majority (N = 24, 70.60%) stated they use Excel. The majority of respondents, 89.90%, said they have reached out proactively to a laboratory to request a VUS reassessment (SD = 0.30). A majority of respondents, 78.2%, also said they have been involved in reassessment activities in addition to contacting the laboratory (SD = 0.49). Respondents also said in their opinion the laboratory had the primary responsibility for initiating VUS reassessment (86.7%, N = 75, SD = 0.84). Looking at processes across genetic counseling areas, types of clinics and volume of patients seen per week, we were able to assess the current practices of clinical GCs. This information can help inform future guidelines for how clinical GCs can efficiently contribute to VUS reclassification. Future research is recommended to look at the time commitment of individual activities to see how they can be implemented into the clinical GCs’ billable scope of practice.