将癌症基因组学转化为人工智能导向的精准医学:应用、挑战和未来展望。
Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives.
机构信息
IBM Watson Health, Cambridge, MA, USA.
出版信息
Hum Genet. 2019 Feb;138(2):109-124. doi: 10.1007/s00439-019-01970-5. Epub 2019 Jan 22.
In the field of cancer genomics, the broad availability of genetic information offered by next-generation sequencing technologies and rapid growth in biomedical publication has led to the advent of the big-data era. Integration of artificial intelligence (AI) approaches such as machine learning, deep learning, and natural language processing (NLP) to tackle the challenges of scalability and high dimensionality of data and to transform big data into clinically actionable knowledge is expanding and becoming the foundation of precision medicine. In this paper, we review the current status and future directions of AI application in cancer genomics within the context of workflows to integrate genomic analysis for precision cancer care. The existing solutions of AI and their limitations in cancer genetic testing and diagnostics such as variant calling and interpretation are critically analyzed. Publicly available tools or algorithms for key NLP technologies in the literature mining for evidence-based clinical recommendations are reviewed and compared. In addition, the present paper highlights the challenges to AI adoption in digital healthcare with regard to data requirements, algorithmic transparency, reproducibility, and real-world assessment, and discusses the importance of preparing patients and physicians for modern digitized healthcare. We believe that AI will remain the main driver to healthcare transformation toward precision medicine, yet the unprecedented challenges posed should be addressed to ensure safety and beneficial impact to healthcare.
在癌症基因组学领域,下一代测序技术提供的广泛遗传信息以及生物医学出版物的快速增长,导致了大数据时代的到来。将人工智能(AI)方法(如机器学习、深度学习和自然语言处理(NLP))集成到数据的可扩展性和高维度的挑战中,并将大数据转化为临床可操作的知识,正在不断扩展,并成为精准医学的基础。本文在整合基因组分析以实现精准癌症护理的工作流程背景下,综述了人工智能在癌症基因组学中的应用现状和未来方向。批判性地分析了癌症基因检测和诊断(如变异调用和解释)中人工智能的现有解决方案及其局限性。还综述和比较了文献挖掘中用于基于证据的临床推荐的关键 NLP 技术的公有工具或算法。此外,本文还强调了人工智能在数字医疗中应用所面临的数据要求、算法透明度、可重复性和真实世界评估方面的挑战,并讨论了使患者和医生为现代数字化医疗做好准备的重要性。我们相信,人工智能将仍然是向精准医学转变的主要驱动力,但为了确保安全和对医疗保健产生有益的影响,应该解决这些前所未有的挑战。