Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology.
Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology.
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DOI：
10.1002/jgc4.1313
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发表时间：
2021-03
影响因子：
1.9
通讯作者：
Webster G
中科院分区：
文献类型：
--
作者：
Cherny S;Olson R;Chiodo K;Balmert LC;Webster G
心脏病的基因检测不断变化。我们的目的是评估小儿心律失常和心肌病变异分类的趋势。我们对 2006-17 年间接受遗传性心律失常和心肌病测试的患者进行了回顾性审查。变体由 CLIA 实验室进行分类。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，在 2012 年之后加速。每个面板测试的平均基因数量与测试年份之间存在很强的正相关性（r=0.97，p <0.001），而年份与临床可操作变异百分比下降之间的相关性较弱（r=-0.20，p=0.005）。到 2011 年，VUS 占面板上报告的变异的 50% 以上。 12 年来，203 个基因被研究； 91/203 个基因 (45%) 中报告了一种或多种变异。 32% 的患者至少有一种临床可行的变异； 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% 的变异改变了临床解释。我们观察到三个方面随着时间的推移有所增加：订购的测试总数、基因/组的平均数量以及 VUS 的百分比。提供者可能需要解释 90 多个基因的结果，持续的教育至关重要。由于他们在测试结果解释方面接受过专门培训，我们建议在儿科电生理学和心肌病团队中纳入遗传咨询师。
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 2006–17. Variants were classified by CLIA labs. Trends were assessed by 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=0.97, p <0.001) and a weak correlation between the year and a decrease in the percentage of clinically actionable variants (r=−0.20, p=0.005). By 2011, VUS represented >50% of variants reported on panels. Over 12 years, 203 genes were interrogated; one or more variants were reported in 91/203 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.
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