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

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 stu...

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Bibliographic Details
Published in:Journal of child neurology 2022-10, Vol.37 (10-11), p.840-850
Main Authors: Alam, Armaghan, Parfyonov, Maksim, Huang, Camille Y., Gill, Inderpal, Connolly, Mary B., Illes, Judy
Format: Article
Language:English
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Summary: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.
ISSN:0883-0738
1708-8283
DOI:10.1177/08830738221113901