Kim Jihun, Park Woong-Yang, Kim Nayoung K D, Jang Se Jin, Chun Sung-Min, Sung Chang-Ohk, Choi Jene, Ko Young-Hyeh, Choi Yoon-La, Shim Hyo Sup, Won Jae-Kyung
Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Center for Cancer Genome Discovery, Asan Institute for Life Sciences, Seoul, , Korea.
J Pathol Transl Med. 2017 May;51(3):191-204. doi: 10.4132/jptm.2017.03.14. Epub 2017 May 10.
Next-generation sequencing (NGS) has recently emerged as an essential component of personalized cancer medicine due to its high throughput and low per-base cost. However, no sufficient guidelines for implementing NGS as a clinical molecular pathology test are established in Korea. To ensure clinical grade quality without inhibiting adoption of NGS, a taskforce team assembled by the Korean Society of Pathologists developed laboratory guidelines for NGS cancer panel testing procedures and requirements for clinical implementation of NGS. This consensus standard proposal consists of two parts: laboratory guidelines and requirements for clinical NGS laboratories. The laboratory guidelines part addressed several important issues across multistep NGS cancer panel tests including choice of gene panel and platform, sample handling, nucleic acid management, sample identity tracking, library preparation, sequencing, analysis and reporting. Requirements for clinical NGS tests were summarized in terms of documentation, validation, quality management, and other required written policies. Together with appropriate pathologist training and international laboratory standards, these laboratory standards would help molecular pathology laboratories to successfully implement NGS cancer panel tests in clinic. In this way, the oncology community would be able to help patients to benefit more from personalized cancer medicine.
新一代测序（NGS）因其高通量和低单碱基成本，最近已成为个性化癌症医学的重要组成部分。然而，韩国尚未建立将NGS作为临床分子病理学检测的充分指南。为了在不阻碍NGS应用的情况下确保临床级质量，韩国病理学家协会组建的一个特别工作组制定了NGS癌症检测板检测程序的实验室指南以及NGS临床实施的要求。这一共识标准提案由两部分组成：实验室指南和临床NGS实验室的要求。实验室指南部分涉及多步骤NGS癌症检测板检测中的几个重要问题，包括基因检测板和平台的选择、样本处理、核酸管理、样本身份追踪、文库制备、测序、分析和报告。临床NGS检测的要求从文件记录、验证、质量管理和其他所需书面政策方面进行了总结。这些实验室标准连同适当的病理学家培训和国际实验室标准，将有助于分子病理学实验室在临床上成功实施NGS癌症检测板检测。通过这种方式，肿瘤学界将能够帮助患者从个性化癌症医学中更多地受益。
