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医学创新:探索ChatGPT对罕见病管理的影响。

Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management.

作者信息

Zampatti Stefania, Peconi Cristina, Megalizzi Domenica, Calvino Giulia, Trastulli Giulia, Cascella Raffaella, Strafella Claudia, Caltagirone Carlo, Giardina Emiliano

机构信息

Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.

Department of Science, Roma Tre University, 00146 Rome, Italy.

出版信息

Genes (Basel). 2024 Mar 28;15(4):421. doi: 10.3390/genes15040421.

DOI:10.3390/genes15040421
PMID:38674356
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11050022/
Abstract

Artificial intelligence (AI) is rapidly transforming the field of medicine, announcing a new era of innovation and efficiency. Among AI programs designed for general use, ChatGPT holds a prominent position, using an innovative language model developed by OpenAI. Thanks to the use of deep learning techniques, ChatGPT stands out as an exceptionally viable tool, renowned for generating human-like responses to queries. Various medical specialties, including rheumatology, oncology, psychiatry, internal medicine, and ophthalmology, have been explored for ChatGPT integration, with pilot studies and trials revealing each field's potential benefits and challenges. However, the field of genetics and genetic counseling, as well as that of rare disorders, represents an area suitable for exploration, with its complex datasets and the need for personalized patient care. In this review, we synthesize the wide range of potential applications for ChatGPT in the medical field, highlighting its benefits and limitations. We pay special attention to rare and genetic disorders, aiming to shed light on the future roles of AI-driven chatbots in healthcare. Our goal is to pave the way for a healthcare system that is more knowledgeable, efficient, and centered around patient needs.

摘要

人工智能(AI)正在迅速改变医学领域,开启了一个创新与高效的新时代。在为通用目的设计的人工智能程序中,ChatGPT凭借OpenAI开发的创新语言模型占据着突出地位。由于使用了深度学习技术,ChatGPT作为一种特别可行的工具脱颖而出,以能够对查询生成类人回复而闻名。包括风湿病学、肿瘤学、精神病学、内科和眼科在内的各个医学专科都在探索将ChatGPT整合其中,初步研究和试验揭示了每个领域的潜在益处和挑战。然而,遗传学和遗传咨询领域以及罕见病领域是适合探索的领域,因为其数据集复杂且需要个性化的患者护理。在本综述中,我们综合了ChatGPT在医学领域的广泛潜在应用,突出其益处和局限性。我们特别关注罕见病和遗传病,旨在阐明人工智能驱动的聊天机器人在医疗保健中的未来作用。我们的目标是为一个更具知识、更高效且以患者需求为中心的医疗保健系统铺平道路。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60c5/11050022/c4130db0eb02/genes-15-00421-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60c5/11050022/145870b67a61/genes-15-00421-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60c5/11050022/c4130db0eb02/genes-15-00421-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60c5/11050022/145870b67a61/genes-15-00421-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60c5/11050022/c4130db0eb02/genes-15-00421-g002.jpg

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本文引用的文献

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Google DeepMind's gemini AI versus ChatGPT: a comparative analysis in ophthalmology.谷歌深度思维公司的Gemini人工智能与ChatGPT:眼科领域的比较分析
Eye (Lond). 2024 Jun;38(8):1412-1417. doi: 10.1038/s41433-024-02958-w. Epub 2024 Feb 14.
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Performance of ChatGPT as an AI-assisted decision support tool in medicine: a proof-of-concept study for interpreting symptoms and management of common cardiac conditions (AMSTELHEART-2).
评估生成式人工智能在支持罕见病遗传咨询中的应用。
Diagnostics (Basel). 2025 Mar 10;15(6):672. doi: 10.3390/diagnostics15060672.
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AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.人工智能驱动的神经遗传学:利用聊天机器人辅助患者评估。
Genes (Basel). 2024 Dec 27;16(1):29. doi: 10.3390/genes16010029.
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Federated Learning: Breaking Down Barriers in Global Genomic Research.联邦学习:打破全球基因组研究中的障碍。
Genes (Basel). 2024 Dec 22;15(12):1650. doi: 10.3390/genes15121650.
6
Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.解析 FSHD 的复杂性:一种多模态方法作为罕见疾病的模型。
Int J Mol Sci. 2024 Oct 11;25(20):10949. doi: 10.3390/ijms252010949.
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Assessing the Impact of ChatGPT in Dermatology: A Comprehensive Rapid Review.评估ChatGPT在皮肤科的影响:一项全面的快速综述。
J Clin Med. 2024 Oct 3;13(19):5909. doi: 10.3390/jcm13195909.
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[What is the potential of ChatGPT for qualified patient information? : Attempt of a structured analysis on the basis of a survey regarding complementary and alternative medicine (CAM) in rheumatology].[ChatGPT在提供合格患者信息方面的潜力如何?:基于一项关于风湿病补充和替代医学(CAM)的调查进行结构化分析的尝试]
Z Rheumatol. 2025 Apr;84(3):179-187. doi: 10.1007/s00393-024-01535-6. Epub 2024 Jul 10.
ChatGPT 在医学中作为 AI 辅助决策支持工具的性能:解释常见心脏疾病症状和管理的概念验证研究 (AMSTELHEART-2)。
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