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. 2022 Oct;37(10-11):840-850.
doi: 10.1177/08830738221113901. Epub 2022 Aug 3.

Targeted Whole Exome Sequencing in Children With Early-Onset Epilepsy: Parent Experiences

Armaghan Alam  1   2 , Maksim Parfyonov  2   3 , Camille Y Huang  1 , Inderpal Gill  3 , Mary B Connolly  3 , Judy Illes  1
Affiliations

Targeted Whole Exome Sequencing in Children With Early-Onset Epilepsy: Parent Experiences

Armaghan Alam et al. J Child Neurol. 2022 Oct.

Abstract

This study investigated the experiences of 25 caregivers of children with early-onset, treatment-resistant epilepsy who pursued whole exome sequencing to determine the impact of the test results on their child's treatment. Caregivers who consented to be recontacted were recruited from a previous study investigating the diagnostic yield of whole exome sequencing. A semistructured interview addressed questions based on one of 2 study phases. The first phase discussed the decision-making process for genetic testing (15 interviews), which revealed 4 major themes: (1) prognosis, (2) engagement, (3) concerns, and (4) autonomy. The second phase discussed the impact of genetic testing on treatment (10 interviews), which revealed 3 major themes: (1) testing features, (2) emotional impact, and (3) treatment outcomes. Overall, parents pursued genetic testing to obtain a clear prognosis, inform treatment decisions, engage with other families, and exercise autonomy. Caregivers felt that early testing is warranted to inform their child's diagnostic odyssey.

Keywords: and treatment; children; epilepsy; ethics; genetics; mutation; next-generation sequencing; outcome; seizures.

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Conflict of interest statement

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Major themes identified in phase 1: decision making for genetic testing (n = frequency of themes).
Figure 2.
Figure 2.
Major themes identified in phase 2: impact of genetic testing on treatment choices (n = frequency of themes).
See this image and copyright information in PMC

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