从信息过载到可操作的见解:从基因组测试中解释癌症变异的数字解决方案

S. Yaung, Adeline Pek
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引用次数: 3

摘要

鉴于基因组检测在常规临床应用中的增加,越来越需要数字技术解决方案来帮助病理学家、肿瘤学家和研究人员将变异呼叫转化为可操作的知识,以个性化患者管理计划。在本文中,我们讨论了分子遗传学家和医学肿瘤学家在处理下一代体细胞肿瘤测序测试结果时面临的挑战,并提出了实施决策支持软件以帮助解释临床重要变异的关键考虑因素。此外,我们回顾了一个示例决策支持软件NAVIFY Mutation Profiler的结果。NAVIFY Mutation Profiler是一种基于云的软件,提供管理、注释、解释和报告通过下一代测序鉴定的体细胞变异。该软件根据AMP、ASCO、CAP和ACMG的一致建议报告分层分类。使用NAVIFY突变分析器进行的研究表明,该软件提供了及时的更新和准确的管理,以及变异组合的解释,这表明决策支持工具可以帮助推进精确肿瘤学的实施。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
From Information Overload to Actionable Insights: Digital Solutions for Interpreting Cancer Variants from Genomic Testing
Given the increase in genomic testing in routine clinical use, there is a growing need for digital technology solutions to assist pathologists, oncologists, and researchers in translating variant calls into actionable knowledge to personalize patient management plans. In this article, we discuss the challenges facing molecular geneticists and medical oncologists in working with test results from next-generation sequencing for somatic oncology, and propose key considerations for implementing a decision support software to aid the interpretation of clinically important variants. In addition, we review results from an example decision support software, NAVIFY Mutation Profiler. NAVIFY Mutation Profiler is a cloud-based software that provides curation, annotation, interpretation, and reporting of somatic variants identified by next-generation sequencing. The software reports a tiered classification based on consensus recommendations from AMP, ASCO, CAP, and ACMG. Studies with NAVIFY Mutation Profiler demonstrated that the software provided timely updates and accurate curation, as well as interpretation of variant combinations, demonstrating that decision support tools can help advance implementation of precision oncology.
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