Date of Award

5-2022

Document Type

Thesis - Closed Access

Degree Name

MS in Human Genetics

First Advisor

Laura Hercher, MS, CGC

Second Advisor

Abha R. Gupta, MD, PhD

Abstract

Whole exome sequencing (WES) is quickly moving toward becoming a first-tier test for autism spectrum disorder (ASD); however, the diagnostic yield of these tests can be quite low. Many parents will not receive a molecular diagnosis to explain the underlying cause of their child’s autism, so it is important to understand how these parents view genetic testing: both regarding satisfaction with genetic testing and if such results cause significant emotional distress. We surveyed 520 parents who enrolled their child with ASD in SPARK Research Match and received a null genetic finding through WES. We found that, despite not receiving a pathogenic genetic result for ASD, parents were satisfied with genetic testing, and they experienced low levels of emotional distress upon receiving results. Additionally, parents with lower understanding of the test results had significantly decreased satisfaction with testing and experienced increased emotional distress.

Keywords: autism spectrum disorder, genetic testing, exome sequencing, parents, perceptions, attitudes, utility, value, motivations, knowledge

What is known about this topic: Prior studies exploring parental attitudes towards genetic testing for ASD are generally positive, however few studies have examined how parents feel about genetic testing for autism after they have undergone the process. Even though the diagnostic yield of ASD testing can be quite low, no studies have explored parental satisfaction of going through ASD testing and not receiving a pathogenic result for their child.

What this paper adds to the topic: Our study demonstrates that parents are very satisfied with genetic testing even if their child does not receive a pathogenic result, and when they receive such results, they do not experience significant distressing emotions. Additionally, we find that parents who feel like they do not understand the test results have lower satisfaction as well as more emotional distress upon finding that their child does not have a positive genetic test result for ASD.

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