Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics: A Study of Parents and Adolescents.
Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics: A Study of Parents and Adolescents.
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DOI：
10.1161/circgen.120.003189
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发表时间：
2021-08
期刊：
影响因子：
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通讯作者：
Chung WK
中科院分区：
文献类型：
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作者：
Ahimaz P;Sabatello M;Qian M;Wang A;Miller EM;Parrott A;Lal AK;Chatfield KC;Rossano JW;Ware SM;Parent JJ;Kantor P;Yue L;Wynn J;Lee TM;Addonizio LJ;Appelbaum PS;Chung WK
对于有遗传性心肌病个人或家族史的儿童，建议进行基因检测，以确定适当的管理方法，并告知家庭成员的风险分层。对孩子来说，积极的基因结果可能会影响他们的情绪健康。鉴于未成年人心肌病基因检测的细微差别，本研究旨在了解父母如何让孩子参与检测过程，并调查基因结果对家庭动态的影响。一项调查从儿童心肌病基金会和儿童心肌病登记处的七个北美站点招募了参与者。该调查使用麦克马斯特家庭评估设备，探讨青少年和家长在收到他们/他们孩子的基因结果时的情绪、亲子结果沟通及其对家庭功能的影响。162名未成年人和48名青少年的父母完成了这项调查，他们接受了个人或家族心肌病病史的基因检测。患有心肌病的父母更有可能向孩子透露阳性的诊断基因结果（p值=0.014）。未受影响的孩子和阳性预测测试结果的父母更容易对结果产生负面情绪（p值=<0.001），但也比阴性预测结果的父母有更好的家庭功能得分（p值=0.019）。大多数青少年更喜欢结果直接传达给孩子，但父母在孩子的结果应该先公布给他们还是先公布给孩子的问题上存在分歧。这些发现对于提供者如何为青少年构建遗传服务以及促进父母和孩子之间关于结果的讨论具有重要的考虑意义。
Genetic testing is indicated for children with a personal or family history of hereditary cardiomyopathy to determine appropriate management and inform risk stratification for family members. The implications of a positive genetic result for children can potentially impact emotional wellbeing. Given the nuances of cardiomyopathy genetic testing for minors, this study aimed to understand how parents involve their children in the testing process and investigate the impact of genetic results on family dynamics. A survey was distributed to participants recruited from the Children’s Cardiomyopathy Foundation and seven North American sites in the Pediatric Cardiomyopathy Registry. The survey explored adolescent and parent participants’ emotions upon receiving their/their child’s genetic results, parent-child result communication and its impact on family functionality, using the McMaster Family Assessment Device. One hundred sixty two parents of minors and 48 adolescents who were offered genetic testing for a personal or family history of cardiomyopathy completed the survey. Parents whose child had cardiomyopathy were more likely to disclose positive diagnostic genetic results to their child (p value=0.014). Parents with unaffected children and positive predictive testing results were more likely to experience negative emotions about the result (p value=<0.001) but also had better family functioning scores than those with negative predictive results (p value=0.019). Most adolescents preferred results communicated directly to the child, but parents were divided about whether their child’s result should first be released to them or their child. These findings have important considerations for how providers structure genetic services for adolescents and facilitate discussion between parents and their children about results.