Angione Kaitlin, Gibbons Melissa, Demarest Scott
Department of Pediatrics, Section of Neurology, University of Colorado Denver, Aurora, CO, USA.
J Child Neurol. 2019 Mar;34(3):139-143. doi: 10.1177/0883073818815036. Epub 2018 Dec 20.
Next-generation sequencing panels are particularly useful in identifying genetic diagnoses in patients with nonspecific clinical findings by allowing for analysis of many genes at once. The purpose of this study was to develop a simple, objective system to evaluate the quality of available next-generation sequencing panels.
A list of potentially important features of next-generation sequencing panels generated from the literature was evaluated for accessibility and objectivity and distilled to a "core" set of quality features. This was then applied to a clinical setting using the example of epilepsy panels. Panels at 8 laboratories were rated based on several objective measures to create a scoring system that differentiated between labs in a clinically meaningful way.
There was substantial variability in 6 "core" test criteria, allowing for creation of a scoring system that clearly distinguished labs based on identified strengths and weaknesses of each panel.
We have demonstrated an objective method for comparing next-generation sequencing panels that can be applied or adapted to any clinical phenotype for which genetic testing is available. This method offers an unbiased approach to determining the ideal test for a given indication at a given time.
新一代测序面板通过一次分析多个基因，在识别具有非特异性临床发现的患者的基因诊断方面特别有用。本研究的目的是开发一个简单、客观的系统来评估可用的新一代测序面板的质量。
对从文献中生成的新一代测序面板的潜在重要特征列表进行可及性和客观性评估，并提炼出一组“核心”质量特征。然后以癫痫面板为例将其应用于临床环境。根据若干客观指标对8个实验室的面板进行评分，以创建一个能以具有临床意义的方式区分不同实验室的评分系统。
6项“核心”测试标准存在很大差异，从而能够创建一个基于每个面板已确定的优势和劣势来清晰区分实验室的评分系统。
我们展示了一种比较新一代测序面板的客观方法，该方法可应用于或适用于任何有基因检测可用的临床表型。这种方法为在给定时间针对给定适应症确定理想测试提供了一种无偏见的途径。
