Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
BC Inherited Arrhythmia Program, Vancouver, BC, Canada.
Eur J Hum Genet. 2019 Jul;27(7):1134-1142. doi: 10.1038/s41431-019-0377-6. Epub 2019 Mar 21.
Interpretation of sequence variants is an ongoing challenge and new approaches aim to increase stringency. The reclassification of variants has the potential to alter medical management and elicit psychosocial consequences for patients. The perspective of patients with an inherited cardiac disease and a clinically significant variant reclassification was explored through semi-structured phone interviews. Participants were recruited from two specialized multidisciplinary centers in Canada and Australia. Qualitative analysis was performed through a thematic analysis approach. Fifteen participants were interviewed, including 9 (60%) with an inherited cardiomyopathy and 6 (40%) with an inherited arrhythmia syndrome. Six (40%) patients had a classification upgrade, while 9 (60%) had a downgrade. Four major themes emerged: (1) reactions towards the reclassified variant; (2) impact on decision-making; (3) perception of the reclassification process; and (4) improvement of the reclassification process. Many patients adjusted to the reclassification, however some misunderstood the implications, impacting their responses and decision-making. In conclusion, careful discussion with patients about uncertainty and the potential for reclassification are crucial to ensure a deeper understanding of the outcome of genetic testing and impact on families.
序列变异的解读是一个持续存在的挑战，新的方法旨在提高严格性。变异的重新分类有可能改变医疗管理，并给患者带来心理社会后果。通过半结构化电话访谈探讨了患有遗传性心脏病和临床意义上的变异重新分类的患者的观点。参与者是从加拿大和澳大利亚的两个专门的多学科中心招募的。通过主题分析方法进行定性分析。共采访了 15 名参与者，其中 9 名（60%）患有遗传性心肌病，6 名（40%）患有遗传性心律失常综合征。6 名（40%）患者的分类升级，9 名（60%）患者的分类降级。出现了四个主要主题：（1）对重新分类变异的反应；（2）对决策的影响；（3）对重新分类过程的看法；和（4）改进重新分类过程。许多患者适应了重新分类，但有些患者误解了其含义，影响了他们的反应和决策。总之，与患者就不确定性和重新分类的可能性进行仔细讨论对于确保更深入地了解遗传测试的结果及其对家庭的影响至关重要。
