AI结合家族史与皮肤影像,提升诊断准确率。
AI-Powered Dermatological Diagnosis: From Interpretable Models to Clinical Implementation A Comprehensive Framework for Accessible and Trustworthy Skin Disease Detection
- 用可解释的深度学习融合图像与家族病史数据。
- 加入家族史后,黑素瘤等遗传性皮肤病诊断更准。
- 适合临床部署,帮助医生早期发现和个性化诊疗。
全球有19亿人受皮肤病影响,但准确诊断因专科医生不足和临床表现复杂而困难。家族史显著影响皮肤疾病易感性和治疗反应,但在诊断中常被忽略。本研究提出一个整合多模态数据的AI框架,结合基于深度学习的图像分析与结构化临床数据(含详细家族史)。方法采用可解释的卷积神经网络与融入遗传风险因素的临床决策树,通过前瞻性临床试验在多样医疗环境中验证AI辅助诊断效果。当前工作已由医疗专业人员评估AI输出与临床预期的一致性;未来将开展更多真实世界临床试验。结果显示,纳入家族史后,对黑色素瘤、银屑病和特应性皮炎等遗传性皮肤病的诊断准确率提升。专家反馈认为有望改善早期发现与个性化建议,正式临床试验正在规划中。系统设计支持临床流程集成,并通过可解释AI机制保障透明度。
原文摘要 · Abstract (English)
Dermatological conditions affect 1.9 billion people globally, yet accurate diagnosis remains challenging due to limited specialist availability and complex clinical presentations. Family history significantly influences skin disease susceptibility and treatment responses, but is often underutilized in diagnostic processes. This research addresses the critical question: How can AI-powered systems integrate family history data with clinical imaging to enhance dermatological diagnosis while supporting clinical trial validation and real-world implementation? We developed a comprehensive multi-modal AI framework that combines deep learning-based image analysis with structured clinical data, including detailed family history patterns. Our approach employs interpretable convolutional neural networks integrated with clinical decision trees that incorporate hereditary risk factors. The methodology includes prospective clinical trials across diverse healthcare settings to validate AI-assisted diagnosis against traditional clinical assessment. In this work, validation was conducted with healthcare professionals to assess AI-assisted outputs against clinical expectations; prospective clinical trials across diverse healthcare settings are proposed as future work. The integrated AI system demonstrates enhanced diagnostic accuracy when family history data is incorporated, particularly for hereditary skin conditions such as melanoma, psoriasis, and atopic dermatitis. Expert feedback indicates potential for improved early detection and more personalized recommendations; formal clinical trials are planned. The framework is designed for integration into clinical workflows while maintaining interpretability through explainable AI mechanisms.
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