Ann Lab Med 2019; 39(6): 515-523  https://doi.org/10.3343/alm.2019.39.6.515
Korean Society for Genetic Diagnostics Guidelines for Validation of Next-Generation Sequencing-Based Somatic Variant Detection in Hematologic Malignancies
Heyjin Kim , M.D.1,2*, Jae Won Yun , M.D.1*, Seung-Tae Lee , M.D.3, Hee-Jin Kim , M.D.1, Sun-Hee Kim , M.D.1, Jong Won Kim , M.D.1, and The Korean Society for Genetic Diagnostics Clinical Guidelines Committee
1Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea; 2Department of Laboratory Medicine, Korea Cancer Center Hospital, Seoul, Korea; 3Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea
Corresponding author: Jong-Won Kim, M.D.
Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-2705 Fax: +82-2-3410-2719 E-mail: kimjw@skku.edu

*These authors contributed equally to this study.
Received: December 5, 2018; Revised: March 31, 2019; Accepted: June 13, 2019; Published online: November 1, 2019.
© Korean Society for Laboratory Medicine. All rights reserved.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Next-generation sequencing (NGS) is currently used in the clinical setting for targeted therapies and diagnosis of hematologic malignancies. Accurate detection of somatic variants is challenging because of tumor purity, heterogeneity, and the complexity of genetic alterations, with various issues ranging from high detection design to test implementation. This article presents guidelines developed through consensus among a panel of experts from the Korean Society for Genetic Diagnostics. They are based on experiences with the validation processes of NGS-based somatic panels for hematologic malignancies, with reference to previous international recommendations. These guidelines describe basic parameters with emphasis on the design of a validation protocol for NGS-based somatic panels to be used in practice. In addition, they suggest thresholds of key metrics, including minimum coverage, mean coverage with uniformity index, and minimum variant allele frequency, for the initial diagnosis of hematologic malignancies.
Keywords: Next-generation sequencing, Validation, Somatic variant, Guidelines, Panels, Hematologic malignancies



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