Date of Award


Document Type

Open Access Dissertation


Genetic Counseling

First Advisor

Emily Jordon


Advances in genomic technology and an increase in the number of gene-disease associations have helped reduce the number of individuals living without a diagnosis. Whole exome sequencing (WES) analyzes the entire human exome in an attempt to determine if there is a molecular etiology for individuals who remain undiagnosed after other clinical or molecular investigations. Still, WES leaves most individuals undiagnosed, resulting in feelings of disappointment and uncertainty. Individuals who remain undiagnosed after WES can subsequently undergo WES reanalysis later due to improvements in bioinformatics, software updates, and an increase in known genedisease associations. This is the first study, to the investigator’s knowledge, which investigates parental perspective of those undergoing the most current genetic testing available. This study recruited parents of undiagnosed individuals who have completed WES and subsequent reanalysis through the Greenwood Genetic Center to investigate their response to and experience with WES reanalysis while on their diagnostic odyssey. Six semi-structured interviews were conducted, recorded, and transcribed verbatim. Transcripts were analyzed using grounded theory and assigned codes to meaningful segments of text. Results showed most participants had lower expectations of reanalysis compared to the initial WES and felt it would not lead to a diagnosis. Most participants responded to nondiagnostic reanalysis results with feelings of disappointment and worry about the future. However, some exhibited a difference in the degree to which they negatively responded. Most participants recognized that reanalysis has been unhelpful for v their child but expressed willingness to contribute to science if it will assist future individuals on a diagnostic odyssey. Despite feelings that reanalysis was unhelpful, most participants would consider reanalysis again for their child. Considering the apparent comprehensive nature of genomic testing, these results show there is a need to balance hope and realistic expectations during counseling and consent of WES reanalysis. In addition, parents desired ongoing medical support which can be offered through reanalysis.