Christian S, Somerville M, Huculak C, Atallah J
Department of Medical Genetic, University of Alberta, 826 Medical Sciences Building, Edmonton, AB, T6G 2H7, Canada.
Department of Medical Genetics, Alberta Health Services, Calgary, AB, Canada.
J Genet Couns. 2018 Aug 21. doi: 10.1007/s10897-018-0293-x.
Cascade predictive genetic testing is available for many families as a means to identify individuals at risk of long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), hypertrophic cardiomyopathy (HCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). The general issue of offering predictive genetic testing to minors has been an area of ethical debate among genetic counselors and other healthcare professionals for many years. An online questionnaire was circulated to four international genetic counseling associations to assess the views of cardiac genetic counselors regarding when to offer predictive genetic testing to children at risk of LQTS, CPVT, HCM, and ARVC. Analysis was both quantitative and qualitative. The study sample comprised 98 respondents. The majority reported that they offer predictive genetic testing before 5 years of age to children at risk of LQTS (83%) and CVPT (75%) and before 10 years of age to children at risk of HCM (66%) or ARVC (70%). Influencing factors included country of practice, clinical setting, and years of experience. The rationale provided for when to offer predictive genetic testing is encompassed by the ethical principles of beneficence, non-maleficence, autonomy, and informed consent. In conclusion, significant practice variation exists among cardiac genetic counselors regarding predictive genetic testing for children at risk of an inherited cardiomyopathy. These variations call for more research in the area to assist with the development of evidence-based guidelines.
级联预测性基因检测适用于许多家庭，作为识别有患长QT综合征（LQTS）、儿茶酚胺能多形性室性心动过速（CPVT）、肥厚型心肌病（HCM）和致心律失常性右室心肌病（ARVC）风险个体的一种手段。多年来，向未成年人提供预测性基因检测这一普遍问题一直是遗传咨询师和其他医疗保健专业人员之间伦理辩论的一个领域。向四个国际遗传咨询协会发放了一份在线问卷，以评估心脏遗传咨询师对于何时向有患LQTS、CPVT、HCM和ARVC风险的儿童提供预测性基因检测的看法。分析包括定量和定性分析。研究样本包括98名受访者。大多数人报告说，他们在5岁之前向有患LQTS风险的儿童（83%）和CVPT风险的儿童（75%）提供预测性基因检测，在10岁之前向有患HCM风险的儿童（66%）或ARVC风险的儿童（70%）提供预测性基因检测。影响因素包括执业国家、临床环境和工作经验年限。提供预测性基因检测时机的理由包含在行善、不伤害、自主和知情同意等伦理原则之中。总之，心脏遗传咨询师在对有遗传性心肌病风险的儿童进行预测性基因检测方面存在显著的实践差异。这些差异需要该领域进行更多研究，以协助制定基于证据的指南。
