Burns Charlotte, McGaughran Julie, Davis Andrew, Semsarian Christopher, Ingles Jodie
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia.
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
Am J Med Genet A. 2016 Feb;170A(2):418-425. doi: 10.1002/ajmg.a.37455. Epub 2015 Nov 6.
Ongoing challenges of clinical assessment of long QT syndrome (LQTS) highlight the importance of genetic testing in the diagnosis of asymptomatic at-risk family members. Effective access, uptake, and communication of genetic testing are critical for comprehensive cascade family screening and prevention of disease complications such as sudden cardiac death. The aim of this study was to describe factors influencing uptake of LQTS genetic testing, including those relating to access and family communication. We show those who access genetic testing are overrepresented by the socioeconomically advantaged, and that although overall family communication is good, there are some important barriers to be addressed. There were 75 participants (aged 18 years or more, with a clinical and/or genetic diagnosis of LQTS; response rate 71%) who completed a survey including a number of validated scales; demographics; and questions about access, uptake, and communication. Mean age of participants was 46 ± 16 years, 20 (27%) were males and 60 (80%) had genetic testing with a causative gene mutation in 42 (70%). Overall uptake of cascade testing within families was 60% after 4 years from proband genetic diagnosis. All participants reported at least one first-degree relative had been informed of their risk, whereas six (10%) reported at least one first-degree relative had not been informed. Those who were anxious or depressed were more likely to perceive barriers to communicating. Genetic testing is a key aspect of care in LQTS families and intervention strategies that aim to improve equity in access and facilitate effective family communication are needed.
长QT综合征（LQTS）临床评估中持续存在的挑战凸显了基因检测在无症状高危家庭成员诊断中的重要性。基因检测的有效获取、接受程度及沟通对于全面的级联式家庭筛查以及预防诸如心源性猝死等疾病并发症至关重要。本研究的目的是描述影响LQTS基因检测接受程度的因素，包括与获取途径和家庭沟通相关的因素。我们发现，进行基因检测的人群在社会经济方面处于优势的比例过高，并且尽管总体家庭沟通良好，但仍有一些重要障碍需要解决。有75名参与者（年龄在18岁及以上，临床诊断和/或基因诊断为LQTS；应答率71%）完成了一项调查，该调查包括一些经过验证的量表、人口统计学信息以及关于获取途径、接受程度和沟通的问题。参与者的平均年龄为46±16岁，20名（27%）为男性，60名（80%）进行了基因检测，其中42名（70%）检测到致病基因突变。从先证者基因诊断起4年后，家庭中级联检测的总体接受率为60%。所有参与者均报告至少有一位一级亲属被告知其患病风险，而6名（10%）参与者报告至少有一位一级亲属未被告知。焦虑或抑郁的参与者更有可能察觉到沟通障碍。基因检测是LQTS家庭护理的关键方面，需要采取旨在改善获取公平性并促进有效家庭沟通的干预策略。
