Targeted Whole Exome Sequencing in Children with Early Onset Epilepsy: Parent Experiences
Abstract number :
1.368
Submission category :
12. Genetics / 12A. Human Studies
Year :
2022
Submission ID :
2204181
Source :
www.aesnet.org
Presentation date :
12/3/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:23 AM
Authors :
Maksim Parfyonov, MD – BC Children's Hospital; Armaghan Alam, MD – University of British Columbia; Camille Huang, BA – University of British Columbia; Inderpal Gill, BSc – University of British Columbia; Mary Connolly, MB BCh FRCPC – University of British Columbia; Judy Illes, CM, PhD – University of British Columbia
Rationale: Parent perceptions of genetic testing and related ethical and psychosocial implications have been explored for a number of pediatric conditions, but not previously for epilepsy. Data on parent attitudes toward next-generation sequencing in pediatric epilepsy, and how these attitudes inform decision-making about testing and treatment is therefore a significant knowledge gap. To close this gap, we explored the perceptions and experiences of caregivers of children with early onset, treatment-resistant epilepsy in a cohort in British Columbia, Canada, who underwent targeted whole exome sequencing (WES)._x000D_
Methods: We used semi-structured interviews to investigate the experiences of 25 caregivers of children with early onset, treatment-resistant epilepsy who pursued WES to determine the impact of the test results on their child’s treatment. Caregivers who consented to be recontacted from a previous study were recruited to the present one. They variously had received positive, negative and non-definitive results. A first phase of interviews focused on decision-making; the second phase on the impact of genetic testing on treatment.
Results: Results from 15 Phase I interviews revealed four major themes pertaining to: (1) prognosis, (2) engagement, (3) concerns, and (4) autonomy. The second phase based on 10 interviews revealed three major themes: (1) testing features, (2) emotional impact, and (3) treatment outcomes. Families of children who received a genetic diagnosis reported significant relief from gaining a diagnostic label and prognostic information. Those who did not receive a genetic diagnosis (variant of uncertain significance or negative results) also reported benefit from pursuing genetic testing in reducing their sense of anxiety and guilt, and expressed hope for identifying a cause in the future.
Conclusions: This study suggests that early testing, even in the absence of a positive genetic finding, is warranted to inform a child’s journey with epilepsy. Taken together, the themes suggest that parents pursue genetic testing to obtain a clear prognosis, inform treatment decisions, engage with other families, and exercise autonomy.
Funding: This work was supported by the National Institutes of Health (NIH) BRAIN Initiative on Neuroethics [RF1 # MH117805 01; JI, Principal Investigator], the Alva Foundation [MC], and the Pejman Family support of Study of Whole Exome Sequencing in early-onset epilepsy [MC].
Genetics