Date of Award

Spring 2021

Document Type

Open Access Thesis


Genetic Counseling

First Advisor

Michael J. Lyons


The purpose of this study was to investigate the efficacy of telegenetic services for pediatric genetic evaluations conducted by telemedicine by comparing it to in-person pediatric genetic evaluations. Research into the utility of telegenetics would greatly serve to identify if this is a preferred alternative service delivery model to bridge the gap in accessibility and reach a greater catchment area of the population, especially to those living in underserved and rural locations. This study was a retrospective review of electronic medical records of pediatric patients seen at Greenwood Genetic Center (GGC) for initial in-person genetic visits prior to the COVID-19 pandemic and initial telemedicine genetic visits during the COVID-19 pandemic. Primary indications were reviewed in conjunction with the final clinical assessment made by the geneticist at the time of visit. Diagnostic information from the clinical assessment was used to determine if a clinical diagnosis could be made, which was categorized into clinical genetic diagnosis (met clinical criteria with/without the need for molecular confirmation), environmental etiology, isolated anomaly, multifactorial etiology, within normal variation, and testing not indicated. If testing was indicated, results were categorized into diagnosed, undiagnosed, uncertain, or not completed. Both clinical assessment and genetic testing outcomes were used in the diagnostic yield comparison. We found that visit type did not have a significant effect on the likelihood of diagnosis. Identifying the similarities in diagnostic outcomes for patients seen by telemedicine may strengthen the support for telegenetic services, improve accessibility to genetic services, and benefit both providers and patients.

Included in

Genetics Commons