Bonner Carissa, Spinks Catherine, Semsarian Christopher, Barratt Alex, Ingles Jodie, McCaffery Kirsten
Sydney School of Public Health, University of Sydney, Rm 126A, Edward Ford Building A27, Sydney, NSW, 2006, Australia.
Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
J Genet Couns. 2018 Sep;27(5):1040-1048. doi: 10.1007/s10897-018-0218-8. Epub 2018 Feb 22.
Families with a history of hypertrophic cardiomyopathy (HCM) may be offered genetic testing in addition to clinical surveillance. Asymptomatic family members who are gene positive (silent gene carriers) represent a new group of "patients" who may not develop HCM, with little evidence available to assist clinical management. This study explored experiences of HCM genetic testing to identify potential benefits and harms. Thirty-two individuals previously offered genetic testing for HCM were recruited. Semi-structured interviews were conducted face-to-face or by phone, and transcribed audio-recordings were coded using framework analysis. Key themes were as follows: (1) helping the next generation, (2) misunderstanding risk, (3) discrepancy between actual/perceived impact. Participants described multiple psychological (shock, worry, uncertainty) and behavioural (career, sport, insurance, family planning) consequences, depending on perceived risk. Most considered only the benefits of genetic testing for children or grandchildren, but there were some cases of significant adverse impact. The interpretation of the HCM genetic test result is variable for silent gene carriers and can lead to psychological and behavioural changes. The impact of a positive gene result may be mitigated by increased clarity of the clinical consequences and efforts to ensure informed decision-making, highlighting even further the important role of cardiac genetic counselling.
除了临床监测外，有肥厚型心肌病（HCM）家族病史的家庭可能会接受基因检测。基因检测呈阳性的无症状家庭成员（沉默基因携带者）代表了一组新的“患者”群体，他们可能不会患肥厚型心肌病，目前几乎没有证据可用于指导临床管理。本研究探讨了肥厚型心肌病基因检测的经历，以确定潜在的益处和危害。招募了32名之前接受过肥厚型心肌病基因检测的个体。通过面对面或电话方式进行半结构式访谈，并使用框架分析法对转录的录音进行编码。主要主题如下：（1）帮助下一代，（2）对风险的误解，（3）实际/感知影响之间的差异。参与者描述了多种心理（震惊、担忧、不确定性）和行为（职业、运动、保险、计划生育）后果，这取决于感知到的风险。大多数人只考虑了基因检测对子女或孙辈的好处，但也有一些产生重大负面影响的案例。对于沉默基因携带者，肥厚型心肌病基因检测结果的解读存在差异，可能导致心理和行为变化。通过更明确临床后果和努力确保知情决策，基因检测结果呈阳性的影响可能会得到缓解，这进一步凸显了心脏遗传咨询的重要作用。
