Parents of a child with epilepsy: Views and expectations on receiving genetic results from Whole Genome Sequencing

Abstract

PurposeThe use of Next Generation Sequencing technologies (NGS), such as Whole Genome Sequencing (WGS), is expected to improve the often complex and protracted course of treatment of patients with epilepsy by providing an earlier and more accurate diagnosis. As part of the “Personalized medicine in the treatment of epilepsy” project, which aimed to determine whether WGS could be used as a valuable “diagnostic tool” in pharmacoresistant epilepsies, we examined parents' expectations, hopes, and concerns upon receiving results related to their child's epilepsy, comorbidities, resistance to medication, and genetic information on unrelated conditions, and how these results could impact their and their child's life. MethodsParents of 32 children participating in the genetic study completed either paper or online questionnaires. A descriptive analysis of responses and comments was conducted regarding parents' experience with their child's epilepsy, as well as their views on WGS, and expectations and concerns surrounding such test results. ResultsMost respondents had trouble explaining the medical causes of their child's epilepsy (n = 27), and a majority (n = 26) feared that their child may be treated unjustly because of their epilepsy, although some acknowledged that their child had never actually been treated unjustly (n = 13). A majority of respondents had also experienced feelings of guilt due to their child's epilepsy (n = 23), and some expected WGS results to have an impact on those feelings. The anticipation of benefits for their child was the parents' primary reason to get involved in a genomic research project, closely followed by altruism. A majority expressed strong intentions to receive as many WGS results as possible, considering that any could be beneficial for them and their child, even when mutations were not found. Respondents were divided as to how and when to tell their child that they might have newly discovered predispositions to develop another disease. In proportion, more parents expressed concerns about sharing unexpected results with their family members compared with sharing results linked to epilepsy, comorbidities, and pharmacoresistance. ConclusionOur results reinforce the importance of having clear guidelines to help parents manage their expectations and better navigate the complexities of receiving and sharing WGS results. Despite the small size of our sample, we believe that our results are meaningful to clinical practice.