Genetic testing for cardiac disorders continues to change. Our objective was to assess trends in variant classification in pediatric arrhythmia and cardiomyopathy. We conducted a retrospective review of patients tested for genetic arrhythmia and cardiomyopathy disorders from 2006–2017. Variants were classified by CLIA laboratories. Trends were assessed by the Spearman correlation. There were 914 variants in 583 patients from 337 families. The total number of tests ordered increased over time, accelerating after 2012. There was a strong positive correlation between the average number of genes tested per panel and year of testing (r = .97, p < .001) and a weak correlation between the year and a decrease in the percentage of clinically actionable variants (r = −.20, p = .005). By 2011, VUS represented >50% of variants reported on panels. Over 12 years, 203 genes were interrogated; one or more variants were reported in 91 of 203 genes (45%). 32% of patients had at least one clinically actionable variant; 28% had at least one VUS. Reclassification is an important long‐term issue, with 21.5% variants changing clinical interpretation. We observed an increase over time in three areas: total number of tests ordered, average number of genes/panel, and percentage of VUS. Providers may need to interpret results from 90 + genes, and ongoing education is critical. Due to their specific training in test result interpretation, we recommend the inclusion of a genetic counselor in pediatric electrophysiology and cardiomyopathy teams.

中文翻译：

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儿童心肌病和电生理学中基因变异随时间的变化

心脏疾病的基因检测不断变化。我们的目标是评估小儿心律失常和心肌病变异分类的趋势。我们对 2006 年至 2017 年接受遗传性心律失常和心肌病检测的患者进行了回顾性研究。变体由 CLIA 实验室分类。通过 Spearman 相关性评估趋势。来自 337 个家庭的 583 名患者中有 914 个变异。订购的测试总数随着时间的推移而增加，并在 2012 年之后加速。每组测试的平均基因数与测试年份之间存在很强的正相关性 ( r  = .97, p  < .001)，而在年和临床可操作变异的百分比下降（r = -.20，p  = .005）。到 2011 年，VUS 代表了面板上报告的 >50% 的变体。超过 12 年，203 个基因被检测；203 个基因中有 91 个（45%）报告了一个或多个变体。32% 的患者至少有一种临床上可操作的变异；28% 的人至少有一个 VUS。重新分类是一个重要的长期问题，21.5% 的变异会改变临床解释。我们观察到三个方面随着时间的推移而增加：订购的测试总数、基因/面板的平均数量和 VUS 的百分比。提供者可能需要解释来自 90 多个基因的结果，并且持续教育至关重要。由于他们在测试结果解释方面的特定培训，我们建议在儿科电生理学和心肌病团队中包括一名遗传咨询师。