Date of Award


Document Type

Campus Access Thesis


Genetic Counseling

First Advisor

Peggy Walker


Purpose: Variants of unknown significance (VUS) discovered in microarray testing can be quite challenging to interpret and communicate to parents in the pediatric clinical setting. The purpose of this study was to investigate the current practices in pediatric genetic counseling of presenting VUS results and to better understand counselors' experiences to make recommendations for improvement based on their responses. Methods: Pediatric genetic counselors currently offering microarrays and reporting VUS results were accessed through NSGC membership lists. They completed a mixed-mode survey tool designed to assess how they are challenged with VUS results following microarray testing. Questions focused on consenting, clinical interpretation of lab results, communication to parents, and counselors' degree of satisfaction and frustration. The survey included Likert-scale and multiple choice quantitative questions, for which frequency analysis, Chi-square test, and Spearman's rho correlation analysis were completed. Open-ended questions were grouped into thematic categories using grounded theory methods. Results: Of the total respondents (N = 116), 63 participants met the inclusion criteria. Eighty per cent reported that they discussed possible VUS in pre-test counseling and 65% agreed that their current method of consenting provided sufficient information regarding VUS. Chi-square analysis showed a statistically significant relationship between having an established consenting process that addresses the possibility of VUS and the amount of time spent on explaining the possibility of VUS during pretest counseling (2(1, N = 63) = 27.84, p < .001). Almost 60% of respondents reported limited availability of time as their top barrier. The top three reasons for counselors' frustrations included inability to answer all parents' questions (84%); lack of standard criteria for VUS results interpretation (82%); and increased workload associated with VUS findings (75%). For 61% of the respondents, explaining results of VUS results has neither positively nor negatively affected their relationship with parents. Respondents recommended improvements to the clinical application of microarray technology, including improved laboratory standardization, receiving more clinical information about VUS from laboratories, and desire for a centralized database of VUS and phenotypic results. Conclusions: Pediatric genetic counselors expressed satisfaction with the power of microarrays to discover new diagnostic information for patients, and frustrations when clinical implications of VUS are unknown. The findings of this study can serve to guide us in addressing genetic counselors' limitations of microarray utility in the pediatrics genetic clinic, specifically in the context of 'clinical translation' of VUS results.