Clinical Epidemiology Unit, Memorial University, Newfoundland, Canada.
Genet Med. 2009 Dec;11(12):859-65. doi: 10.1097/GIM.0b013e3181c20bb3.
Arrhythmogenic right ventricular cardiomyopathy, a lethal autosomal dominant cause of sudden cardiac death in young people, is prevalent in Newfoundland and Labrador (genetic subtype ARVD5). In the absence of implantable cardioverter defibrillator treatment, death rates are extremely high. Research into arrhythmogenic right ventricular cardiomyopathy (ARVD5) began in the 1980s and the causative gene and mutation were discovered in 2008. The decades of research highlighted major issues associated with the ethical management of genetic information and the translation of research findings to clinical care. We describe these issues and the strategies used in managing them. Effective knowledge transfer of the research information has resulted in systematic clinical and genetic screening coupled with genetic counseling and treatment for at-risk family members. Improved survival for patients has been one clear result of this strategy. Optimal care of families where individuals are at-high risk of inheriting a disease with high morbidity and mortality requires the full integration of both genetic research and clinical genetics programs. Although yet to be fully effected in our setting, our discussion highlights both the ethical necessity as well as some practical barriers in realizing this outcome.
致心律失常性右室心肌病是一种致命的常染色体显性遗传性疾病，导致年轻人心脏性猝死，在纽芬兰和拉布拉多省（ARVD5 遗传亚型）较为常见。如果没有植入式心脏复律除颤器治疗，死亡率极高。对致心律失常性右室心肌病（ARVD5）的研究始于 20 世纪 80 年代，2008 年发现了致病基因和突变。数十年的研究凸显了与遗传信息的伦理管理和研究结果转化为临床护理相关的重大问题。我们描述了这些问题以及在管理这些问题时使用的策略。研究信息的有效知识转移导致了系统的临床和遗传筛查，以及对高危家庭成员进行遗传咨询和治疗。这一策略的一个明显结果是提高了患者的生存率。为个体有高发病率和死亡率的疾病高风险的家庭提供最佳护理，需要充分整合遗传研究和临床遗传学计划。尽管在我们的环境中尚未完全实现，但我们的讨论既强调了实现这一结果的伦理必要性，也强调了一些实际障碍。
