Genetic testing and counselling are increasingly important in epilepsy care, aiming at finding a diagnosis, understanding aetiology and improving treatment and outcome. The psychological impact of genetic counselling from patients' or parents’ perspectives is, however, unknown. We studied the counselee-reported outcome of genetic counselling before and after genetic testing for epilepsy by evaluating empowerment – a key outcome goal of counselling reflecting cognitive, decisional and behavioural control, emotional regulation and hope – and anxiety. We asked patients or their parents (for those <16 years or intellectually disabled) referred for genetic testing for epilepsy in two university hospitals between June 2014 and 2017 to complete the same two questionnaires at three timepoints: before and after pre-test counselling and after post-test counselling. Empowerment was measured with the Genetic Counselling Outcome Scale (GCOS-18); anxiety with the short State Trait Anxiety Inventory (STAI-6). A total of 63 participants (55 parents with the age of 29–66 years; 8 patients with the age of 21–42 years) were included in our study. Empowerment significantly increased during the genetic counselling trajectory with a medium effect size (p < 0.001, d = 0.57). A small but significant increase in empowerment was already seen after pre-test counselling (p = 0.038, d = 0.29). Anxiety did not change significantly during the counselling trajectory (p = 0.223, d = −0.24). Our study highlights that patients with epilepsy or their parents show a clinically relevant increase in empowerment after genetic counselling. Empowerment was already increased after pre-test counselling, suggesting the importance of counselling before initiating genetic testing for epilepsy. However, individual differences in changes in empowerment and anxiety were seen, suggesting that counselling could be further improved, based on individual needs.

基因测试和咨询在癫痫治疗中越来越重要，其目的是发现诊断，了解病因并改善治疗和结果。然而，从患者或父母的角度来看遗传咨询对心理的影响尚不清楚。我们通过评估赋权能力研究了遗传咨询对癫痫患者进行遗传测试之前和之后的遗传咨询的结果，而赋权是反映认知，决策和行为控制，情绪调节和希望的咨询的主要结局目标-焦虑。我们要求在2014年6月至2017年之间在两家大学医院进行癫痫病基因检测的患者或其父母（年龄在16岁以下或智力残疾的患者）在三个时间点填写相同的两个调查表：测试前辅导前后，测试后辅导之后。用遗传咨询结果量表（GCOS-18）来衡量赋权。短期状态特质焦虑量表（STAI-6）引起的焦虑。本研究共纳入63名参与者（55名父母，年龄在29-66岁； 8名患者，年龄在21-42岁）。在遗传咨询过程中，赋权显着增加，效果中等（p ＜0.001，d  ＝ 0.57）。在测试前咨询后，已经看到授权的增加很小但是很显着（p  =  0.038，d  = 0.29）。在咨询过程中焦虑没有显着变化（p  = 0.223，d = -0.24）。我们的研究强调，遗传咨询后，患有癫痫病的患者或他们的父母表现出增强的临床相关能力。在进行测试前的咨询后，授权已得到提高，这表明在进行癫痫病的基因检测之前咨询的重要性。但是，在赋权和焦虑变化方面存在个体差异，这表明可以根据个人需求进一步改善咨询服务。