Date of Award


Document Type

Open Access Thesis


Genetic Counseling

First Advisor

Brook White


Purpose: Cancer genetics has emerged as a critical specialty within the field of genetic counseling. Advancements in research are constantly uncovering new insights into the genetics of cancer and inherited cancer syndromes. It is crucial that genetic counselors and the institutions in which they work are in sync with these advancements. Currently, multiplex or multi-gene cancer testing is rapidly being adapted into the cancer genetic counseling setting. The ‘hot topic’ of an increased likelihood of receiving variant results following such testing has been explored in depth in the literature. However, research surrounding genetic counseling practices and the reclassification of VUS results is lacking. No consensus guidelines addressing variant reclassification yet exist. This study aimed to identify current practices of genetic counselors with regard to variant reclassification, and to explore whether genetic counselors feel they need official guidelines relating to the reclassification of variant results.

Method: An online survey distributed through the National Society of Genetic Counselors and the Cancer Special Interest Group (SIG) was utilized in this research study. Statistical Analysis System (SAS) 9.4 was employed for quantitative data and statistical analysis while qualitative data was coded and analyzed for major themes using grounded theory methods.

Results: We determined that cancer genetic counselors are handling the reclassification of VUS results in a unified manner. Common themes across almost 200 respondents demonstrated that they approach benign or deleterious reclassification in a similar vi fashion. 95% of respondents (n = 209) discuss variant reclassification with their patients upon receiving a VUS result. Similarly, 95% of respondents (n = 209) will sometimes or always make a plan to communicate VUS reclassification results should they arise in the future. The overwhelming majority (97%) of respondents (n = 183) indicated that the protocol for re-contacting patients with a VUS reclassification would not be different from what they had used in the past for single-gene analysis. Varying opinions existed on whether practice guidelines relating to VUS reclassification are necessary. The majority, 62% of respondents (n = 178), agreed or strongly agreed that there was a need for guidelines relating to variant reclassification. Those who disagreed expressed concerns surrounding liability issues and the feasibility of implementing recommendations across different institutions.

Conclusions: Findings from this study indicate that most genetic counselors are utilizing unified practices when handling the reclassification of variant results. Additionally, a proportion of genetic counselors felt that guidance or recommendations for certain areas relating to variant reclassification are necessary. While future research is needed to explore more in-depth the issues and opinions identified in this research project, another possible approach is for the NSGC Cancer SIG to address this topic at their earliest opportunity, given the coming wave of VUS reclassifications from multiple collaborative efforts to more urgently reclassify VUS results.