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.

本研究调查了 25 名早发性难治性癫痫患儿的看护人的经历，他们进行全外显子组测序以确定检测结果对其孩子治疗的影响。同意重新联系的护理人员是从先前的一项研究中招募的，该研究调查了全外显子组测序的诊断率。半结构化访谈基于 2 个研究阶段之一解决问题。第一阶段讨论了基因检测的决策过程（15 次访谈），揭示了 4 个主要主题：（1）预后、（2）参与、（3）关注和（4）自主权。第二阶段讨论了基因检测对治疗的影响（10 次访谈），揭示了 3 个主要主题：（1）检测特征，（2）情绪影响，以及（3）治疗结果。全面的，父母进行基因检测以获得明确的预后，告知治疗决策，与其他家庭接触并行使自主权。照顾者认为有必要进行早期测试，以告知他们孩子的诊断奥德赛。