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实现机器学习在精准肿瘤学中的前景:关于机遇与挑战的专家观点

Realizing the promise of machine learning in precision oncology: expert perspectives on opportunities and challenges.

作者信息

Nittas Vasileios, Ormond Kelly E, Vayena Effy, Blasimme Alessandro

机构信息

Epidemiology, Biostatistics and Prevention Institute, University of Zurich, Hirschengraben 84, Zurich, 8001, Switzerland.

Health Ethics and Policy Lab, Department of Health Sciences and Technology, Swiss Federal Institute of Technology (ETH Zurich), Hottingerstrasse 10, Zurich, 8092, Switzerland.

出版信息

BMC Cancer. 2025 Feb 17;25(1):276. doi: 10.1186/s12885-025-13621-2.

Abstract

BACKGROUND

The ability of machine learning (ML) to process and learn from large quantities of heterogeneous patient data is gaining attention in the precision oncology community. Some remarkable developments have taken place in the domain of image classification tasks in areas such as digital pathology and diagnostic radiology. The application of ML approaches to the analysis of DNA data, including tumor-derived genomic profiles, microRNAs, and cancer epigenetic signatures, while relatively more recent, has demonstrated some utility in identifying driver variants and molecular signatures with possible prognostic and therapeutic applications.

METHODS

We conducted semi-structured interviews with academic and clinical experts to capture the status quo, challenges, opportunities, ethical implications, and future directions.

RESULTS

Our participants agreed that machine learning in precision oncology is in infant stages, with clinical integration still rare. Overall, participants equated ongoing developments with better clinical workflows and improved treatment decisions for more cancer patients. They underscored the ability of machine learning to tackle the dynamic nature of cancer, break down the complexity of molecular data, and support decision-making. Our participants emphasized obstacles related to molecular data access, clinical utility, and guidelines. The availability of reliable and well-curated data to train and validate machine learning algorithms and integrate multiple data sources were described as constraints yet necessary for future clinical implementation. Frequently mentioned ethical challenges included privacy risks, equity, explainability, trust, and incidental findings, with privacy being the most polarizing. While participants recognized the issue of hype surrounding machine learning in precision oncology, they agreed that, in an assistive role, it represents the future of precision oncology.

CONCLUSIONS

Given the unique nature of medical AI, our findings highlight the field's potential and remaining challenges. ML will continue to advance cancer research and provide opportunities for patient-centric, personalized, and efficient precision oncology. Yet, the field must move beyond hype and toward concrete efforts to overcome key obstacles, such as ensuring access to molecular data, establishing clinical utility, developing guidelines and regulations, and meaningfully addressing ethical challenges.

摘要

背景

机器学习(ML)处理大量异质性患者数据并从中学习的能力在精准肿瘤学界日益受到关注。在数字病理学和诊断放射学等领域的图像分类任务方面已经取得了一些显著进展。虽然将ML方法应用于DNA数据(包括肿瘤衍生的基因组图谱、微小RNA和癌症表观遗传特征)的分析相对较新,但已显示出在识别具有潜在预后和治疗应用的驱动变异和分子特征方面具有一定效用。

方法

我们对学术和临床专家进行了半结构化访谈,以了解现状、挑战、机遇、伦理影响和未来方向。

结果

我们的参与者一致认为,精准肿瘤学中的机器学习尚处于起步阶段,临床整合仍然很少见。总体而言,参与者将持续发展等同于更好的临床工作流程和为更多癌症患者改善治疗决策。他们强调了机器学习应对癌症动态特性、分解分子数据复杂性以及支持决策的能力。我们的参与者强调了与分子数据获取、临床效用和指南相关的障碍。描述了可靠且精心整理的数据对于训练和验证机器学习算法以及整合多个数据源的可用性,这是未来临床实施的制约因素,但也是必要条件。经常提到的伦理挑战包括隐私风险、公平性、可解释性、信任和偶发发现,其中隐私问题最具争议性。虽然参与者认识到精准肿瘤学中围绕机器学习的炒作问题,但他们一致认为,作为辅助角色,它代表了精准肿瘤学的未来。

结论

鉴于医学人工智能的独特性质,我们的研究结果突出了该领域的潜力和剩余挑战。ML将继续推动癌症研究,并为以患者为中心、个性化和高效的精准肿瘤学提供机会。然而,该领域必须超越炒作,朝着具体努力方向前进,以克服关键障碍,例如确保获取分子数据、确立临床效用、制定指南和法规以及切实应对伦理挑战。

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