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Updated: May 11, 2025

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将人工智能应用于罕见疾病:一篇文献综述强调了法布里病的教训

Dominique P Germain^1,2, David Gruson³, Marie Malcles⁴

¹Division of Medical Genetics, University of Versailles-St Quentin en Yvelines (UVSQ), Paris-Saclay University, 2 avenue de la Source de la Bièvre, 78180, Montigny, France. dominique.germain@uvsq.fr.

Orphanet journal of rare diseases

|April 17, 2025

概括

人工智能 (AI) 为罕见疾病的诊断和管理提供了重大进展. 人工智能工具可以改善患者识别,疾病监测和个性化治疗,同时解决道德问题.

科学领域:

医疗信息学医疗信息学
遗传学是一个遗传学.
计算生物学计算生物学

背景情况:

人工智能 (AI) 在罕见疾病中的应用正在迅速扩大.
机器学习和深度学习方法是分析复杂健康数据的关键.
费布里病是一种X链接遗传疾病,在罕见疾病中作为AI的模型.

研究的目的:

审查用于罕见疾病研究的常见AI方法.
用法布里病作为案例研究来说明AI适应罕见疾病.
突出AI在诊断,监测和个性化治疗方面的潜力.

主要方法:

在PubMed系统搜索人工智能,罕见疾病和法布里病.
专注于对受法布里病影响的特定器官的AI应用的搜索.
分析了2025年1月之前发表的关于AI和法布里病的20篇文章.

主要成果:

人工智能可以前性地识别罕见疾病患者,并回顾性地诊断被忽视的病例.
人工智能促进了法布里病的诊断,监测器官的进展,并有助于个性化治疗的发展.
医疗保健中的人工智能可以提高罕见疾病的认识,加快转诊,但也引发了需要新法规的伦理问题.

结论:

基于人工智能的方法有望在罕见疾病诊断和管理方面取得实质性改进.
确保人工智能实施的人类监督对于以患者为中心的护理至关重要.
将人工智能创新与人类参与相平衡,对于未来的罕见病管理至关重要.

关键词:

人工智能的人工智能是人工智能.深度学习是一种深度学习.费布里病是什么意思费布里病是什么意思机器学习是机器学习.罕见疾病是一种罕见的疾病.

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