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大语言模型时代的可解释人工智能(XAI):在儿科眼科诊断中使用Gemini模型应用XAI框架

Explainable Artificial Intelligence (XAI) in the Era of Large Language Models: Applying an XAI Framework in Pediatric Ophthalmology Diagnosis using the Gemini Model.

作者信息

Upadhyaya Dipak P, Prantzalos Katrina, Golnari Pedram, Shaikh Aasef G, Sivagnanam Subhashini, Majumdar Amitava, Ghasia Fatema F, Sahoo Satya S

机构信息

Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.

National VA Parkinson's Consortium Center, Louis Stokes Cleveland VA Medical Center, OH, USA.

出版信息

AMIA Jt Summits Transl Sci Proc. 2025 Jun 10;2025:566-575. eCollection 2025.

PMID:40502262
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12150742/
Abstract

Amblyopia is a neurodevelopmental disorder affecting children's visual acuity, requiring early diagnosis for effective treatment. Traditional diagnostic methods rely on subjective evaluations of eye tracking recordings from high fidelity eye tracking instruments performed by specialized pediatric ophthalmologists, often unavailable in rural, low resource clinics. As such, there is an urgent need to develop a scalable, low cost, high accuracy approach to automatically analyze eye tracking recordings. Large Language Models (LLM) show promise in accurate detection of amblyopia; our prior work has shown that the Google Gemini model, guided by expert ophthalmologists, can detect control and amblyopic subjects from eye tracking recordings. However, there is a clear need to address the issues of transparency and trust in medical applications of LLMs. To bolster the reliability and interpretability of LLM analysis of eye tracking records, we developed a Feature Guided Interprative Prompting (FGIP) framework focused on critical clinical features. Using the Google Gemini model, we classify high-fidelity eye-tracking data to detect amblyopia in children and apply the Quantus framework to evaluate the classification results across key metrics (faithfulness, robustness, localization, and complexity). These metrics provide a quantitative basis for understanding the model's decision-making process. This work presents the first implementation of an Explainable Artificial Intelligence (XAI) framework to systematically characterize the results generated by the Gemini model using high-fidelity eye-tracking data to detect amblyopia in children. Results demonstrated that the model accurately classified control and amblyopic subjects, including those with nystagmus while maintaining transparency and clinical alignment. The results of this study support the development of a scalable and interpretable clinical decision support (CDS) tool using LLMs that has the potential to enhance the trustworthiness of AI applications.

摘要

弱视是一种影响儿童视力的神经发育障碍,需要早期诊断以便进行有效治疗。传统的诊断方法依赖于由专业儿科眼科医生使用高保真眼动追踪仪器对眼动记录进行主观评估,而在农村、资源匮乏的诊所往往无法获得此类仪器。因此,迫切需要开发一种可扩展、低成本、高精度的方法来自动分析眼动记录。大语言模型(LLM)在弱视的准确检测方面显示出前景;我们之前的工作表明,在专家眼科医生的指导下,谷歌Gemini模型可以从眼动记录中检测出对照者和弱视患者。然而,在大语言模型的医学应用中,显然需要解决透明度和信任问题。为了增强大语言模型对眼动记录分析的可靠性和可解释性,我们开发了一个专注于关键临床特征的特征引导解释性提示(FGIP)框架。使用谷歌Gemini模型,我们对高保真眼动数据进行分类,以检测儿童弱视,并应用Quantus框架跨关键指标(忠实性、稳健性、定位性和复杂性)评估分类结果。这些指标为理解模型的决策过程提供了定量依据。这项工作首次实现了一个可解释人工智能(XAI)框架,该框架使用高保真眼动数据系统地表征Gemini模型生成的结果,以检测儿童弱视。结果表明,该模型能够准确地对对照者和弱视患者进行分类,包括那些患有眼球震颤的患者,同时保持透明度并与临床情况相符。这项研究的结果支持使用大语言模型开发一种可扩展且可解释的临床决策支持(CDS)工具,该工具有可能提高人工智能应用的可信度。

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本文引用的文献

1
Large language models for biomedicine: foundations, opportunities, challenges, and best practices.大型语言模型在生物医学领域的应用:基础、机遇、挑战和最佳实践。
J Am Med Inform Assoc. 2024 Sep 1;31(9):2114-2124. doi: 10.1093/jamia/ocae074.
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Large language models encode clinical knowledge.大语言模型编码临床知识。
Nature. 2023 Aug;620(7972):172-180. doi: 10.1038/s41586-023-06291-2. Epub 2023 Jul 12.
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Amblyopia and fixation eye movements.弱视与固视眼运动。
J Neurol Sci. 2022 Oct 15;441:120373. doi: 10.1016/j.jns.2022.120373. Epub 2022 Aug 3.
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Explainability for artificial intelligence in healthcare: a multidisciplinary perspective.人工智能在医疗保健中的可解释性:多学科视角。
BMC Med Inform Decis Mak. 2020 Nov 30;20(1):310. doi: 10.1186/s12911-020-01332-6.
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A Survey on Explainable Artificial Intelligence (XAI): Toward Medical XAI.可解释人工智能(XAI)研究综述:迈向医学 XAI
IEEE Trans Neural Netw Learn Syst. 2021 Nov;32(11):4793-4813. doi: 10.1109/TNNLS.2020.3027314. Epub 2021 Oct 27.
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Development of a targeted client communication intervention to women using an electronic maternal and child health registry: a qualitative study.开发一种针对使用电子孕产妇健康登记系统的妇女的目标客户沟通干预措施:一项定性研究。
BMC Med Inform Decis Mak. 2020 Jan 6;20(1):1. doi: 10.1186/s12911-019-1002-x.
7
Visuomotor Behaviour in Amblyopia: Deficits and Compensatory Adaptations.弱视的视动行为:缺陷与代偿适应。
Neural Plast. 2019 Jun 9;2019:6817839. doi: 10.1155/2019/6817839. eCollection 2019.
8
A guide to deep learning in healthcare.深度学习在医疗保健中的应用指南。
Nat Med. 2019 Jan;25(1):24-29. doi: 10.1038/s41591-018-0316-z. Epub 2019 Jan 7.
9
Prevalence of amblyopia or strabismus in asian and non-Hispanic white preschool children: multi-ethnic pediatric eye disease study.亚洲和非西班牙裔白种人学龄前儿童弱视或斜视的患病率:多民族儿科眼病研究。
Ophthalmology. 2013 Oct;120(10):2117-24. doi: 10.1016/j.ophtha.2013.03.001. Epub 2013 May 19.
10
A quantitative study of fixation stability in amblyopia.弱视患者固视稳定性的定量研究。
Invest Ophthalmol Vis Sci. 2013 Mar 19;54(3):1998-2003. doi: 10.1167/iovs.12-11054.