College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests
College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests
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DOI：
10.5858/arpa.2014-0250-cp
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发表时间：
2015-04-01
影响因子：
4.6
通讯作者：
Voelkerding, Karl V.
中科院分区：
文献类型：
--
作者：
Aziz, Nazneen;Zhao, Qin;Voelkerding, Karl V.
背景。-与桑格测序相比，下一代测序（NGS）的更高通量和更低的每碱基成本导致其在临床测试中的快速采用。在过去的几年里，提供基于NGS的测试的实验室数量也有了相当大的增长，尽管1988年的临床实验室改进修正案/美国病理学家学院（CAP）实验室标准尚未制定来规范这项技术。制定使用NGS技术的临床检测清单，为分析湿台过程和生物信息学或“干台”分析设定标准。由于基于NGS的临床测试是诊断测试的新产品，并且比传统的基于桑格测序的测试复杂得多，因此迫切需要为提供这些测试的实验室制定新的监管标准。为了为NGS制定必要的监管框架，并促进该技术在临床测试中的适当采用，CAP于2011年成立了一个委员会，即NGS工作组，以审议清单中应包含的内容。CAP的分子病理学检查表（MOL）中包含了分析湿工作台过程和生物信息学分析过程的18项实验室认证检查表要求。本报告描述了CAP委员会在制定新的清单要求期间考虑的重要问题，这些要求涉及文件编制、验证、质量保证、确认性试验、异常日志、升级监测、变体解释和报告、偶然发现、数据存储、版本可追溯性和数据传输保密性。
Context.-The higher throughput and lower per-base cost of next-generation sequencing (NGS) as compared to Sanger sequencing has led to its rapid adoption in clinical testing. The number of laboratories offering NGS-based tests has also grown considerably in the past few years, despite the fact that specific Clinical Laboratory Improvement Amendments of 1988/College of American Pathologists (CAP) laboratory standards had not yet been developed to regulate this technology.Objective.-To develop a checklist for clinical testing using NGS technology that sets standards for the analytic wet bench process and for bioinformatics or '' dry bench'' analyses. As NGS-based clinical tests are new to diagnostic testing and are of much greater complexity than traditional Sanger sequencing-based tests, there is an urgent need to develop new regulatory standards for laboratories offering these tests.Design.-To develop the necessary regulatory framework for NGS and to facilitate appropriate adoption of this technology for clinical testing, CAP formed a committee in 2011, the NGS Work Group, to deliberate upon the contents to be included in the checklist.Results.-A total of 18 laboratory accreditation checklist requirements for the analytic wet bench process and bioinformatics analysis processes have been included within CAP's molecular pathology checklist (MOL).Conclusions.-This report describes the important issues considered by the CAP committee during the development of the new checklist requirements, which address documentation, validation, quality assurance, confirmatory testing, exception logs, monitoring of upgrades, variant interpretation and reporting, incidental findings, data storage, version traceability, and data transfer confidentiality.