Song Jinming, Hussaini Mohammad
Department of Hematopathology and Lab Medicine, Moffitt Cancer Center, Tampa, FL, 33612, USA.
Pract Lab Med. 2020 Feb 10;19:e00154. doi: 10.1016/j.plabm.2020.e00154. eCollection 2020 Mar.
With advancements in the understanding of human cancers (carcinomas, sarcomas, and hematopoietic malignancies), molecular profiling, especially by Next Generation Sequencing (NGS), is playing an increasingly important role in the diagnosis, prognostication, and therapeutic management of cancer patients. The final and critical step in NGS is the annotation of detected variants and reporting of their clinical significance. Automated bioinformatics tools are available to assist with annotation, but the final responsibility for interpretation and validation of the annotation rests with the pathologist who may be constrained by the pressures of clinical sign-out and limited training in NGS. In this manuscript, we detail our experience in outsourcing variant annotation to a high-quality vendor to improve quality, standardize reporting, and decrease turn-around time of NGS reporting in clinical practice. We describe the composition of the evaluation team, steps that should be taken to evaluate potential annotation vendors, and detailed parameters that should be addressed before contracting with a vendor to guarantee the clinical reliability of the reported annotations.
随着对人类癌症（癌、肉瘤和血液系统恶性肿瘤）认识的不断进步，分子谱分析，尤其是通过新一代测序（NGS）技术，在癌症患者的诊断、预后评估和治疗管理中发挥着越来越重要的作用。NGS的最后关键步骤是对检测到的变异进行注释并报告其临床意义。虽然有自动化生物信息学工具协助注释，但对注释进行解读和验证的最终责任在于病理学家，而他们可能受到临床签出压力以及NGS方面培训有限的限制。在本手稿中，我们详细介绍了将变异注释外包给高质量供应商的经验，以提高临床实践中NGS报告的质量、规范报告并缩短周转时间。我们描述了评估团队的组成、评估潜在注释供应商应采取的步骤，以及在与供应商签约前应考虑的详细参数，以确保所报告注释的临床可靠性。
