Center for Human Genetics, KU Leuven, Gasthuisberg, Laboratory for Molecular Diagnosis, Leuven, Belgium.
CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16.
In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions. The use of WGS in diagnostics warrants the re-evaluation and update of previously published guidelines. This work was jointly initiated by EuroGentest and the Horizon2020 project Solve-RD. Statements from the 2016 guidelines have been reviewed in the context of WGS and updated where necessary. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.
2016 年，EuroGentest 发布了诊断下一代测序（NGS）的指南，以协助实验室在诊断环境中实施和认证 NGS。这些指南主要集中在全外显子组测序（WES）和靶向（基因面板）测序，检测小的种系变异（单核苷酸变异（SNVs）和插入/缺失（indels））。自那时以来，全基因组测序（WGS）已越来越多地应用于罕见病的诊断，因为 WGS 允许同时检测 SNVs、结构变异（SVs）和其他类型的变异，如重复扩展。WGS 在诊断中的使用需要重新评估和更新以前发布的指南。这项工作是由 EuroGentest 和 Horizon2020 项目 Solve-RD 共同发起的。在 WGS 的背景下审查了 2016 年指南中的陈述，并在必要时进行了更新。这些建议的主要目的是为临床（实验室）遗传学家、生物信息学家和（非）遗传学家列出考虑因素，提供技术建议，辅助临床决策和结果报告。
