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

Autor:	Armaghan Alam, Maksim Parfyonov, Camille Y. Huang, Inderpal Gill, Mary B. Connolly, Judy Illes
Rok vydání:	2022
Předmět:	Parents Epilepsy Caregivers Exome Sequencing Pediatrics Perinatology and Child Health Humans Genetic Testing Neurology (clinical) Child
Zdroj:	Journal of Child Neurology. 37:840-850
ISSN:	1708-8283 0883-0738
DOI:	10.1177/08830738221113901
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d2e6b8d3cc583cd702c88559aa0d6db https://doi.org/10.1177/08830738221113901 Zobrazit plný text záznamu