Hudson Janella, Sturm Amy C, Salberg Lisa, Brennan Simone, Quinn Gwendolyn P, Vadaparampil Susan T
Health Outcomes and Behavior Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, 33612, USA.
, Tampa, USA.
J Community Genet. 2019 Apr;10(2):207-217. doi: 10.1007/s12687-018-0377-1. Epub 2018 Aug 18.
Hypertrophic cardiomyopathy (HCM) affects 1 in 200 people and is the most common cause of sudden cardiac death in the young. Given that HCM usually is inherited in an autosomal dominant pattern, an HCM diagnosis has implications for biologically related family members. The purpose of this study was to explore probands' disclosure of an HCM diagnosis with these biologically related, at-risk family members. An online survey was posted on the website of the Hypertrophic Cardiomyopathy Association (HCMA), an advocacy and support group for HCM patients and their families. Descriptive statistics were used to summarize responses to closed-ended questions and demographics. Using an iterative content analysis with the constant comparison approach, we analyzed the responses to open-ended questions inquiring about the nature and role of disclosure communication with at-risk relatives. A total of 315 individuals with a self-reported diagnosis of HCM completed the survey. Most participants (98%) disclosed their diagnosis to at-risk family members. Sixty-four percent disclosed to family members less than 1 year after diagnosis. Participants also disclosed potential treatment options (74.6%) and the emotional impact of the diagnosis (39%). HCM specialists were ranked by participants as being the most helping in explaining the benefit of genetic counseling, while genetic counselor were ranked as least helpful. Emerging themes address the need to encourage screening and genetic testing among family members and to identify external educational resources for use during the disclosure process. Importantly, our study found that the process of disclosure varies based on individuals' experiences and family communication dynamics. However, almost all participants expressed the importance of disclosing the diagnosis of HCM as well as the importance of being screened and expressed needs for additional support during the disclosure process.
肥厚型心肌病（HCM）在每200人中就有1人患病，是年轻人心源性猝死的最常见原因。鉴于HCM通常以常染色体显性模式遗传，HCM的诊断对有血缘关系的家庭成员具有影响。本研究的目的是探讨先证者向这些有血缘关系的高危家庭成员透露HCM诊断结果的情况。一项在线调查发布在肥厚型心肌病协会（HCMA）的网站上，该协会是一个为HCM患者及其家属提供宣传和支持的组织。描述性统计用于总结对封闭式问题和人口统计学问题的回答。我们采用迭代内容分析法和持续比较法，分析了对开放式问题的回答，这些问题询问了与高危亲属进行诊断结果披露沟通的性质和作用。共有315名自我报告诊断为HCM的个体完成了调查。大多数参与者（98%）向高危家庭成员透露了他们的诊断结果。64%的人在诊断后不到1年就向家庭成员透露了。参与者还透露了潜在的治疗选择（74.6%）和诊断的情感影响（39%）。参与者将HCM专家列为在解释遗传咨询益处方面最有帮助的，而遗传咨询师则被列为最没有帮助的。新出现的主题涉及鼓励家庭成员进行筛查和基因检测的必要性，以及在披露过程中确定外部教育资源以供使用。重要的是，我们的研究发现，披露过程因个人经历和家庭沟通动态而异。然而，几乎所有参与者都表达了披露HCM诊断结果的重要性以及进行筛查的重要性，并表示在披露过程中需要额外的支持。
