Shah Lisa L, Daack-Hirsch Sandra
University of Pittsburgh School of Nursing, 363A Victoria Building, 3500 Victoria Street, Pittsburgh, PA, 15261, USA.
University of Iowa College of Nursing, Iowa City, IA, USA.
J Genet Couns. 2018 Sep;27(5):1022-1039. doi: 10.1007/s10897-018-0225-9. Epub 2018 Feb 28.
Screening for hereditary cardiomyopathies and arrhythmias (HCA) may enable early detection, treatment, targeted surveillance, and result in effective prevention of debilitating complications and sudden cardiac death. Screening at-risk family members for HCA is conducted through cascade screening. Only half of at-risk family members are screened for HCA. To participate in screening, at-risk family members must be aware of their risk. This often relies on communication from diagnosed individuals to their relatives. However, family communication is not well understood and is ripe for developing interventions to improve screening rates. Until very recently, family communication of genetic risk has been mostly studied in non-cardiac disease. Using this non-cardiac literature, we developed the family communication of genetic risk (FCGR) conceptual framework. The FCGR has four main elements of the communication process: influential factors, communication strategies, communication occurrence, and reaction to communication. Using the FCGR, we conducted an integrated review of the available literature on genetic risk communication in HCA families. Descriptive analysis of 12 articles resulted in the development of categories describing details of the FCGR elements in the context of HCA. This review synthesizes what is known about influential factors, communication strategies, communication occurrence, and outcomes of communication in the context of HCA.
对遗传性心肌病和心律失常(HCA)进行筛查可能有助于早期发现、治疗、有针对性的监测,并有效预防使人衰弱的并发症和心源性猝死。通过级联筛查对有HCA风险的家庭成员进行筛查。只有一半有风险的家庭成员接受了HCA筛查。为了参与筛查,有风险的家庭成员必须了解自己的风险。这通常依赖于已确诊个体向其亲属的告知。然而,家庭沟通并未得到很好的理解,且亟待开发干预措施以提高筛查率。直到最近,遗传风险的家庭沟通大多是在非心脏疾病中进行研究的。利用这些非心脏疾病的文献,我们构建了遗传风险家庭沟通(FCGR)概念框架。FCGR有沟通流程的四个主要要素:影响因素、沟通策略、沟通发生情况以及对沟通的反应。利用FCGR,我们对HCA家庭中遗传风险沟通的现有文献进行了综合综述。对12篇文章的描述性分析得出了在HCA背景下描述FCGR要素细节的类别。本综述总结了在HCA背景下关于影响因素、沟通策略、沟通发生情况以及沟通结果的已知信息。