Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Mol Diagn Ther. 2021 Sep;25(5):529-536. doi: 10.1007/s40291-021-00541-7. Epub 2021 Jul 20.
Novel gene-disease discoveries, rapid advancements in technology, and improved bioinformatics tools all have the potential to yield additional molecular diagnoses through the reanalysis of exome sequencing data. Collaborations between clinical laboratories, ordering physicians, and researchers are also driving factors that can contribute to these new insights. Automation in ongoing natural history collection, evolving phenotype updates, advancements in processing next-generation sequencing data, and up-to-date variant-gene-disease databases are increasingly needed for systematic exome reanalysis. Here, we review some of the advantages and challenges for clinician-initiated and laboratory-initiated exome reanalysis, and we propose a model for the future that could potentially maximize the clinical utility of exome reanalysis by integrating information from electronic medical records and knowledge databases into routine clinical workflows.
新的基因疾病发现、技术的快速进步和改进的生物信息学工具都有可能通过重新分析外显子组测序数据提供更多的分子诊断。临床实验室、开单医生和研究人员之间的合作也是推动这些新见解的因素。为了进行系统的外显子组重新分析，越来越需要对正在进行的自然病史采集、不断演变的表型更新、下一代测序数据处理的进步以及最新的变异基因疾病数据库进行自动化处理。在这里，我们回顾了临床医生发起和实验室发起的外显子组重新分析的一些优势和挑战，并提出了一个未来的模型，该模型可以通过将电子病历和知识库中的信息整合到常规临床工作流程中，从而最大限度地提高外显子组重新分析的临床实用性。
