外显子组测序在诊断疑似单基因疾病的儿童方面比模拟的疾病特异性面板具有更高的诊断率。
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
机构信息
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, Australia.
出版信息
Eur J Hum Genet. 2018 May;26(5):644-651. doi: 10.1038/s41431-018-0099-1. Epub 2018 Feb 16.
As test costs decline, whole-exome sequencing (WES) has become increasingly used for clinical diagnosis, and now represents the primary alternative to gene panel testing for patients with a suspected genetic disorder. We sought to compare the diagnostic yield of singleton-WES with simulated application of commercial gene panels in children suspected of having a genetically heterogeneous condition. Recruitment, singleton-WES and phenotype-driven variant analysis was completed for 145 paediatric patients. At recruitment, clinicians were required to propose commercial gene panel tests as an alternative to WES and nominate a phenotype-driven candidate gene list. In WES-diagnosed children, three commercial options for each proposed panel were identified and evaluated for hypothetical diagnostic yield assuming 100% analytical sensitivity and specificity. We compared the price of WES with the least costly panel in WES-diagnosed children. In WES-undiagnosed children, we evaluated the exonic coverage of their phenotype-driven gene list using aggregate data. WES diagnoses were made in genes not included in at least one-of-three commercial panels in 42% of cases. Had a panel been selected instead, 23% of WES-diagnosed children would not have been diagnosed. In 26% of cases, the least costly panel option would have been more expensive than WES. Evaluation of WES coverage found that at the most stringent level of 20× coverage, the likelihood of missing a clinically relevant variant in a candidate gene list was maximally 8%. The broader coverage of WES makes it a superior alternative to gene panel testing at similar financial cost for children with suspected complex monogenic phenotypes.
随着检测成本的降低,全外显子组测序(WES)已越来越多地用于临床诊断,目前已成为疑似遗传疾病患者基因检测的主要替代方法。我们旨在比较 WES 与模拟应用商业基因检测面板在疑似遗传异质性疾病患儿中的诊断效果。共招募了 145 名儿科患者,完成了 WES 检测、表型驱动的变异分析。在招募时,临床医生需选择 WES 作为替代方案,并提出商业基因检测面板,同时提名一个表型驱动的候选基因列表。在 WES 诊断的患儿中,为每个提议的面板确定了三种商业选择,并假设分析灵敏度和特异性均为 100%,评估了假设的诊断效果。我们比较了 WES 的价格与在 WES 诊断患儿中成本最低的面板。在 WES 无法诊断的患儿中,我们使用汇总数据评估了其表型驱动基因列表的外显子覆盖率。在 42%的病例中,WES 诊断的基因未包含在至少一个商业面板中的三个基因中。如果选择了面板,那么 23%的 WES 诊断患儿将无法被诊断。在 26%的病例中,成本最低的面板选项将比 WES 更昂贵。对 WES 覆盖率的评估发现,在最严格的 20×覆盖率标准下,候选基因列表中错过临床相关变异的可能性最大为 8%。WES 更广泛的覆盖范围使其成为疑似复杂单基因表型患儿的基因检测的替代方案,在相似的财务成本下具有优势。