Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis
Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis
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DOI：
10.1177/0883073815627880
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发表时间：
2016-06-01
影响因子：
1.9
通讯作者：
Carlson, Martha
中科院分区：
文献类型：
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作者：
Nolan, Danielle;Carlson, Martha
神经系统疾病的遗传异质性一直是基于表型的诊断测试的障碍。作者假设，通过全外显子组测序收集的信息将改善儿科神经病患者的临床诊断和管理。作者对 2011 年 6 月至 2015 年 6 月期间在密歇根大学小儿神经病学诊所接受评估的患者进行了回顾性图表审查。作者记录了之前的诊断测试、全外显子组测序的适应症以及全外显子组测序结果。建议对 135 名患者进行全外显子组测序，并在 53 名患者中进行了全外显子组测序。保险障碍常常阻碍全外显子组测序。全外显子组测序最常见的适应症是神经发育障碍。全外显子组测序将患者队列的推定诊断率从 25% 提高到 48%。临床意义包括计划生育、药物选择和系统研究。与当前的二级检测相比，全外显子组测序可以降低长期费用并实现更及时的诊断。克服与全外显子组测序保险授权相关的障碍可以实现更高效、更富有成效的诊断神经学评估。
Genetic heterogeneity in neurologic disorders has been an obstacle to phenotype-based diagnostic testing. The authors hypothesized that information compiled via whole exome sequencing will improve clinical diagnosis and management of pediatric neurology patients. The authors performed a retrospective chart review of patients evaluated in the University of Michigan Pediatric Neurology clinic between 6/2011 and 6/2015. The authors recorded previous diagnostic testing, indications for whole exome sequencing, and whole exome sequencing results. Whole exome sequencing was recommended for 135 patients and obtained in 53 patients. Insurance barriers often precluded whole exome sequencing. The most common indication for whole exome sequencing was neurodevelopmental disorders. Whole exome sequencing improved the presumptive diagnostic rate in the patient cohort from 25% to 48%. Clinical implications included family planning, medication selection, and systemic investigation. Compared to current second tier testing, whole exome sequencing can result in lower long-term charges and more timely diagnosis. Overcoming barriers related to whole exome sequencing insurance authorization could allow for more efficient and fruitful diagnostic neurological evaluations.