arXiv:2608.30912cs.AIcs.CL2026-08综述

AI助力癌症基因组学临床转化,关键在解决信任与整合难题

Responsible Integration of AI in Cancer Genomics: Barriers, Risks, and Pathways to Trustworthy Clinical Translation

论文配图:Responsible Integration of AI in Cancer Genomics: Barriers, Risks, and Pathways to Trustworthy Clinical Translation
图 1 · 摘自论文原文
  • 从文献挖掘到临床试验匹配,构建AI支持的基因组分析全流程
  • 识别四大信任障碍:证据不一致、可解释性差、数据治理难、系统互操作性弱
  • 提出全生命周期监管框架,强调验证、透明与人工监督

人工智能(AI)与自然语言处理(NLP)正日益用于提取、整合和解读与癌症基因组学相关的生物医学知识,但其向常规临床肿瘤学的转化进展缓慢。核心挑战并非计算能力,而是可信地融入临床工作流程。本文综述了NLP与AI如何支持癌症基因组学全流程,涵盖文献挖掘、自动变异解读、临床试验匹配、知识图谱构建及多模态数据整合。我们识别出四个相互关联的转化失败领域:证据不一致性、可解释性与不确定性、数据治理与可复现性、互操作性。不将这些挑战孤立看待,而是从系统层面考察其在转化路径中的交互作用。提出一个概念框架与路线图,通过严格验证、不确定性感知方法、可互操作基础设施、监管协调及全生命周期的人工监督来应对。临床常规应用的推进,将更依赖于系统性解决这些交互式失败领域,而非单纯提升模型性能。

原文摘要 · Abstract (English)

Artificial intelligence (AI) and natural language processing (NLP) are increasingly used to extract, integrate, and interpret biomedical knowledge relevant to cancer genomics, yet their translation into routine clinical oncology has been comparatively slow. The central challenge is not computational capability alone, but trustworthy integration into clinical workflows. This review examines how NLP and AI support the cancer genomics pipeline, from literature mining and automated variant interpretation to clinical trial matching, knowledge graph construction, and multimodal data integration. We identify four interrelated translational failure domains: evidence inconsistency, explainability and uncertainty, data governance and reproducibility, and interoperability. Rather than considering these challenges in isolation, we take a systems-level view, focusing on their interaction across the translational pathway. We propose a conceptual framework and roadmap for addressing these domains through rigorous validation, uncertainty-aware methods, interoperable infrastructures, regulatory alignment, and human oversight across the AI lifecycle. Progress toward routine clinical use will depend less on further improving model capability than on systematically addressing these interacting failure domains from development through deployment and post-deployment monitoring.

癌症基因组AI医疗可信AI临床转化

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