Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.
J Med Genet. 2022 Aug;59(8):727-736. doi: 10.1136/jmedgenet-2021-108238. Epub 2022 Apr 7.
The purpose of this document is to provide pre-analytical, analytical and post-analytical considerations and recommendations to Canadian clinical laboratories developing, validating and offering next-generation sequencing (NGS)-based and () tumour testing in ovarian cancers. This document was drafted by the members of the Canadian College of Medical Geneticists (CCMG) somatic BRCA Ad Hoc Working Group, and representatives from the Canadian Association of Pathologists. The document was circulated to the CCMG members for comment. Following incorporation of feedback, this document has been approved by the CCMG board of directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. The current CCMG Practice Guidelines were developed as a resource for clinical laboratories in Canada; however, they are not inclusive of all information laboratories should consider in the validation and use of NGS for tumour testing in ovarian cancers.
本文件的目的是为加拿大临床实验室提供关于开发、验证和提供基于下一代测序（NGS）的卵巢癌肿瘤检测的分析前、分析中和分析后考虑因素和建议。本文件由加拿大医学遗传学家学院（CCMG）体细胞 BRCA 特别工作组的成员以及加拿大病理学家协会的代表起草。该文件已分发给 CCMG 成员征求意见。在纳入反馈意见后，本文件已获得 CCMG 董事会的批准。CCMG 是一个负责认证医学遗传学家和临床实验室遗传学家的加拿大组织，并为加拿大临床遗传学服务制定专业和道德标准。当前的 CCMG 实践指南是作为加拿大临床实验室的资源开发的；然而，它们并不包括实验室在验证和使用 NGS 进行卵巢癌肿瘤检测时应考虑的所有信息。
