美国病理学家学会下一代测序临床试验室标准。
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.
作者信息
Aziz Nazneen, Zhao Qin, Bry Lynn, Driscoll Denise K, Funke Birgit, Gibson Jane S, Grody Wayne W, Hegde Madhuri R, Hoeltge Gerald A, Leonard Debra G B, Merker Jason D, Nagarajan Rakesh, Palicki Linda A, Robetorye Ryan S, Schrijver Iris, Weck Karen E, Voelkerding Karl V
机构信息
From Molecular Medicine (Dr Aziz), Laboratory Improvement Programs (Dr Zhao and Ms Palicki), and Laboratory Accreditation and Regulatory Affairs (Ms Driscoll), College of American Pathologists, Northfield, Illinois; the Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts (Dr Bry); the Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts (Dr Funke); the Department of Clinical Sciences, University of Central Florida College of Medicine, Orlando (Dr Gibson); the Divisions of Medical Genetics and Molecular Diagnostics, Department of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, UCLA Institute for Society and Genetics, Molecular Diagnostic Laboratories and Clinical Genomics Center, UCLA Medical Center, Los Angeles, California (Dr Grody); the Department of Human Genetics, Emory University School of Medicine, Decatur, Georgia (Dr Hegde); Robert J. Tomsich Pathology & Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio (Dr Hoeltge); the Department of Pathology, University of Vermont College of Medicine, Burlington (Dr Leonard); the Departments of Pathology (Drs Merker and Schrijver) and Pediatrics (Dr Schrijver), Stanford University School of Medicine, Stanford, California; the Department of Pathology & Immunology, Washington University School of Medicine, St Louis, Missouri (Dr Nagarajan); the Department of Laboratory Medicine & Pathology, Mayo Clinic in Arizona, Phoenix (Dr Robetorye); the Departments of Pathology & Laboratory Medicine and Genetics, University of North Carolina at Chapel Hill, Chapel Hill (Dr Weck); and ARUP Laboratories Institute for Clinical and Experimental Pathology, and Department of Pathology, University of Utah School of Medicine, Salt Lake City (Dr Voelkerding). Dr Aziz is now with Phoenix Children's Hospital, Phoenix, Arizona.
出版信息
Arch Pathol Lab Med. 2015 Apr;139(4):481-93. doi: 10.5858/arpa.2014-0250-CP. Epub 2014 Aug 25.
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.
背景
与桑格测序相比，新一代测序（NGS）通量更高且每碱基成本更低，这使得它在临床检测中迅速得到应用。尽管1988年《临床实验室改进修正案》/美国病理学家学会（CAP）的特定实验室标准尚未制定以规范这项技术，但在过去几年中，提供基于NGS检测的实验室数量也大幅增加。
目的
制定一份使用NGS技术进行临床检测的清单，为分析湿实验过程以及生物信息学或“干实验”分析设定标准。由于基于NGS的临床检测对于诊断检测来说是新事物，并且比传统的基于桑格测序的检测复杂得多，因此迫切需要为提供这些检测的实验室制定新的监管标准。
设计
为了为NGS制定必要的监管框架，并促进该技术在临床检测中的适当应用，CAP在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。结果。-CAP的分子病理学清单（MOL）中总共包含了18项针对分析湿实验过程和生物信息学分析过程的实验室认可清单要求。
结论
本报告描述了CAP委员会在制定新的清单要求时考虑的重要问题，这些问题涉及文件记录、验证、质量保证、确证检测、异常日志、升级监测、变异解读与报告、偶然发现、数据存储、版本可追溯性以及数据传输保密性。
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