Otten Ellen, Birnie Erwin, Ranchor Adelita V, van Tintelen J Peter, van Langen Irene M
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Department of Health Psychology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Eur J Hum Genet. 2015 Nov;23(11):1462-7. doi: 10.1038/ejhg.2015.10. Epub 2015 Feb 4.
The introduction of next-generation sequencing in everyday clinical genetics practise is increasing the number of genetic disorders that can be confirmed at DNA-level, and consequently increases the possibilities for cascade screening. This leads to a greater need for genetic counselling, whereas the number of professionals available to provide this is limited. We therefore piloted group genetic counselling for symptomatic cardiomyopathy patients at regional hospitals, to assess whether this could be an acceptable alternative to individual counselling. We performed a cohort study with pre- and post-counselling patient measurements using questionnaires, supplemented with evaluations of the group counselling format by the professionals involved. Patients from eight regional hospitals in the northern part of the Netherlands were included. Questionnaires comprised patient characteristics, psychological measures (personal perceived control (PPC), state and trait anxiety inventory (STAI)), and satisfaction with counsellors, counselling content and design. In total, 82 patients (mean age 57.5 year) attended one of 13 group sessions. Median PPC and STAI scores showed significantly higher control and lower anxiety after the counselling. Patients reported they were satisfied with the counsellors, and almost 75% of patients were satisfied with the group counselling. Regional professionals were also, overall, satisfied with the group sessions. The genetics professionals were less satisfied, mainly because of their perceived large time investment and less-than-expected group interaction. Hence, a group approach to cardiogenetic counselling is feasible, accessible, and psychologically effective, and could be one possible approach to counselling the increasing patient numbers in cardiogenetics.
在日常临床遗传学实践中引入下一代测序技术,使得能够在DNA水平确诊的遗传疾病数量不断增加,从而增加了级联筛查的可能性。这导致对遗传咨询的需求更大,而能够提供遗传咨询的专业人员数量有限。因此,我们在地区医院对有症状的心肌病患者进行了群体遗传咨询试点,以评估这是否可以成为个体咨询的可接受替代方案。我们进行了一项队列研究,在咨询前后使用问卷对患者进行测量,并辅以参与其中的专业人员对群体咨询形式的评估。纳入了荷兰北部八家地区医院的患者。问卷包括患者特征、心理测量指标(个人感知控制(PPC)、状态和特质焦虑量表(STAI))以及对咨询师、咨询内容和设计的满意度。共有82名患者(平均年龄57.5岁)参加了13次群体咨询中的一次。咨询后,PPC和STAI得分中位数显示出控制感显著增强,焦虑感显著降低。患者报告他们对咨询师感到满意,近75%的患者对群体咨询感到满意。总体而言,地区专业人员对群体咨询也感到满意。遗传学专业人员的满意度较低,主要是因为他们认为投入的时间较多,且群体互动未达预期。因此,群体方式的心脏遗传学咨询是可行的、可及的且在心理上是有效的,可能是应对心脏遗传学领域不断增加的患者数量的一种咨询方式。