Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland.
Heart Rhythm. 2018 May;15(5):780-786. doi: 10.1016/j.hrthm.2017.11.024. Epub 2017 Nov 23.
Given the dynamic nature of the electrical activity of the heart and ongoing challenges in the diagnostics of inherited heart rhythm disorders, genetic information can be a vital aspect of family management. Communication of genetic information is complex, and the responsibility to convey this information to the family lies with the proband. Current practice falls short, requiring additional support from the clinician and multidisciplinary team. Communication is a 2-part iterative process, reliant on both the understanding of the probands and their ability to effectively communicate with relatives. With the surge of high-throughput genetic testing, results generated are increasingly complex, making the task of communication more challenging. Here we discuss 3 key issues. First, the probabilistic nature of genetic test results means uncertainty is inherent to the practice. Second, secondary findings may arise. Third, personal preferences, values, and family dynamics also come into play and must be acknowledged when considering how best to support effective communication. Here we provide insight into the challenges and provide practical advice for clinicians to support effective family communication. These strategies include acknowledging and managing genetic uncertainty, genetic counseling and informed consent, and consideration of personal and familial barriers to effective communication. We will explore the potential for developing resources to assist clinicians in providing patients with sufficient knowledge and support to communicate complex information to their at-risk relatives. Specialized multidisciplinary clinics remain the best equipped to manage patients and families with inherited heart rhythm disorders given the need for a high level of information and support.
鉴于心脏电活动的动态性质和遗传性心律失常诊断中持续存在的挑战，遗传信息可能是家庭管理的一个重要方面。遗传信息的交流很复杂，向家庭成员传达这些信息的责任在于先证者。目前的实践还存在不足，需要临床医生和多学科团队提供额外的支持。交流是一个由两部分组成的迭代过程，依赖于先证者的理解能力及其与亲属有效沟通的能力。随着高通量基因检测的激增，生成的结果越来越复杂，使得沟通任务更加具有挑战性。在这里，我们讨论了 3 个关键问题。首先，遗传测试结果的概率性质意味着实践中固有的不确定性。其次，可能会出现次要发现。第三，个人偏好、价值观和家庭动态也会产生影响，在考虑如何最好地支持有效沟通时，必须予以承认。在这里，我们深入探讨了挑战，并为临床医生提供了实用的建议，以支持有效的家庭沟通。这些策略包括承认和管理遗传不确定性、遗传咨询和知情同意，以及考虑个人和家庭沟通障碍，以实现有效的沟通。我们将探讨开发资源的潜力，以协助临床医生为有风险的亲属提供足够的知识和支持，以传达复杂的信息。鉴于遗传性心律失常患者和家庭需要高度的信息和支持，专门的多学科诊所仍然是管理这些患者和家庭的最佳选择。
