Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.
Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.
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DOI：
10.1016/j.jmoldx.2017.01.011
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发表时间：
2017-05
期刊：
影响因子：
--
通讯作者：
Nikiforova MN
中科院分区：
文献类型：
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作者：
Jennings LJ;Arcila ME;Corless C;Kamel-Reid S;Lubin IM;Pfeifer J;Temple-Smolkin RL;Voelkerding KV;Nikiforova MN
用于癌症检测的下一代测序（NGS）方法已被临床实验室迅速采用。为了建立体细胞变异的NGS基因组检测的分析验证最佳实践指南，分子病理学协会召集了一个工作组，美国病理学家学院的联络代表。这些联合共识建议涉及NGS检测开发、优化和验证，包括检测验证前进行的样本组内容选择和优化及熟悉阶段的基本原理建议;使用参考细胞系和参考材料评价检测性能;确定每种变异类型的阳性一致率和阳性预测值;以及用于建立测试性能特性的最小覆盖深度和最小样本数量的要求。这些建议强调了实验室主任在使用基于错误的方法中的作用，该方法可以识别整个分析过程中可能发生的错误的潜在来源，并通过测试设计，方法验证或质量控制来解决这些潜在错误，从而不会对患者造成伤害。本文中包含的建议旨在帮助临床实验室验证和持续监测用于检测体细胞变异的NGS检测，并确保测序结果的高质量。
Next-generation sequencing (NGS) methods for cancer testing have been rapidly adopted by clinical laboratories. To establish analytical validation best practice guidelines for NGS gene panel testing of somatic variants, a working group was convened by the Association of Molecular Pathology with liaison representation from the College of American Pathologists. These joint consensus recommendations address NGS test development, optimization, and validation, including recommendations on panel content selection and rationale for optimization and familiarization phase conducted before test validation; utilization of reference cell lines and reference materials for evaluation of assay performance; determining of positive percentage agreement and positive predictive value for each variant type; and requirements for minimal depth of coverage and minimum number of samples that should be used to establish test performance characteristics. The recommendations emphasize the role of laboratory director in using an error-based approach that identifies potential sources of errors that may occur throughout the analytical process and addressing these potential errors through test design, method validation, or quality controls so that no harm comes to the patient. The recommendations contained herein are intended to assist clinical laboratories with the validation and ongoing monitoring of NGS testing for detection of somatic variants and to ensure high quality of sequencing results.
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影响因子：
3
作者：
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通讯作者：
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使用下一代 DNA 测序数据进行变异发现和基因分型的框架。
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