Date of Award

1-1-2012

Document Type

Campus Access Thesis

Department

Genetic Counseling

First Advisor

Janice G Edwards

Abstract

Introduction: Variants of uncertain clinical significance (VUS) are commonly encountered in genomic evaluation, such as microarray testing. Such a result can be unsettling for both laboratory professionals and clinicians. As newer, more detailed genomic technologies integrate into pediatric genetic evaluation, parental perspective on the process is important, especially as it relates to VUS. As most parents do not have formal training in genetics, assessment of their level of understanding and evaluation of their perception of current practice is necessary. We hypothesized that parents may not fully understand the information presented on pediatric microarray. We expected that parents would have valuable input and suggest strategies to improve the process. Methods: Parents whose child received a variant of uncertain clinical significance on microarray evaluation were invited to participate in this study. Participants were recruited by clinicians and genetic counselors working in the Greenwood Genetic Center (GGC) offices throughout the state of South Carolina (Greenwood, Greenville, Charleston, and Columbia). Results: Five parents participated in this study, including two mothers, two fathers and one legal guardian. Three patients had autism spectrum disorder (ASD) and two had developmental delay of unknown etiology. The study explored parental understanding of reasons for testing, feelings and satisfaction with the test process, views toward the value of testing, and suggestions for improvement of the process. We found parents tended to have a positive view of the test process and the value it brought to their case, regardless of the uncertainty of results. We also found that parents tended to be confused by VUS results. Participants were able to provide specific suggestions for improvement in informing, consenting, and counseling for pediatric microarray. Conclusion: Parental knowledge and attitudes are important factors in the realm of pediatric genetic evaluation. An evaluative component that includes parental perspective is a necessary aspect of the integration of genomic technologies in pediatric genetic evaluation

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