DeepRare 重磅发布：全球首个可循证智能体诊断系统，直击医学Last Exam难题

Core Viewpoint - The article discusses the challenges of diagnosing rare diseases and introduces DeepRare, an innovative AI-driven diagnostic system designed to improve the accuracy and efficiency of rare disease diagnosis [1][4][40]. Group 1: Rare Disease Challenges - Over 350 million people globally are affected by rare diseases, with more than 7,000 types identified, 80% of which are genetic [1]. - Patients often face significant delays in diagnosis, averaging over 5 years, with more than 7 consultations and 3 misdiagnoses, leading to a misdiagnosis rate of 40%-50% [1]. - The high heterogeneity of symptoms and fragmented information complicates the diagnostic process, making traditional AI models inadequate [2]. Group 2: DeepRare System Overview - DeepRare is the world's first reasoning-based intelligent diagnostic system for rare diseases, developed by Shanghai Jiao Tong University in collaboration with several institutions [4][6]. - The system utilizes a multi-agent architecture combined with large language models to simulate the diagnostic reasoning process of clinical doctors [6]. - It supports multi-modal inputs, including free text, structured phenotype data, and genomic data, allowing for adaptive responses to various input scenarios [8]. Group 3: Diagnostic Workflow and Performance - The diagnostic process in DeepRare consists of two main stages: gene analysis and knowledge matching, utilizing over 40 medical tools and databases for comprehensive reasoning [11][13]. - The system has shown significant performance improvements, with an average Recall@1 of 57.18%, surpassing existing methods by 23.79 percentage points [23]. - In real clinical cases, DeepRare achieved a Recall@1 of 70.6%, significantly outperforming Exomiser [33]. Group 4: Case Study and Impact - A case study highlighted the successful diagnosis of a 20-month-old child with Prader-Willi syndrome using DeepRare, which had previously gone undiagnosed [18][19]. - The system's ability to provide accurate diagnostic suggestions not only aids in clinical decision-making but also offers hope to families facing undiagnosed conditions [20]. Group 5: Future Prospects - DeepRare represents a paradigm shift in rare disease diagnosis, with potential applications in research to accelerate the interpretation of ambiguous variants and expand treatable rare diseases [40][41]. - The online platform for DeepRare has been launched, facilitating structured input and diagnostic suggestions for clinical doctors [38].