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Expertise or Hallucination? A Comprehensive Evaluation of ChatGPT's Aptitude in Clinical Genetics

文献类型： 外文期刊

作者： Zhang, Yingbo 1 ; Ren, Shumin 1 ; Wang, Jiao 1 ; Zhan, Chaoying 1 ; He, Mengqiao 1 ; Liu, Xingyun 1 ; Wu, Rongrong 1 ; Zhao, Jing 1 ; Wu, Cong 1 ; Fan, Chuanzhu 5 ; Shen, Bairong 1 ;

作者机构： 1.Sichuan Univ, West China Hosp, Frontiers Sci Ctr Dis Related Mol Network, Dept Urol, Chengdu 610017, Peoples R China

2.Sichuan Univ, West China Hosp, Inst Syst Genet, Frontiers Sci Ctr Dis Related Mol Network, Chengdu 610017, Peoples R China

3.Chinese Acad Trop Agr Sci CATAS, Trop Crops Genet Resources Inst, Haikou 571101, Peoples R China

4.Univ A Coruna, Dept Comp Sci & Informat Technol, La Coruna 15008, Spain

5.Wayne State Univ, Dept Biol Sci, Detroit, MI 48202 USA

关键词： Genetics; Diseases; Chatbots; Market research; Biological cells; Databases; Testing; Accuracy; Medical diagnostic imaging; Big Data; Clinical genetics; ChatGPT (chat generative pre-trained transformer); genetic diseases; pathogenic gene; chromosomal abnormalities; knowledge hallucination

期刊名称：IEEE TRANSACTIONS ON BIG DATA （ 影响因子：5.7； 五年影响因子：5.7 ）

ISSN： 2332-7790

年卷期： 2025 年 11 卷 3 期

页码：

收录情况： SCI

摘要： Whether viewed as an expert or as a source of 'knowledge hallucination', the use of ChatGPT in medical practice has stirred ongoing debate. This study sought to evaluate ChatGPT's capabilities in the field of clinical genetics, focusing on tasks such as 'Clinical genetics exams', 'Associations between genetic diseases and pathogenic genes', and 'Limitations and trends in clinical genetics'. Results indicated that ChatGPT performed exceptionally well in question-answering tasks, particularly in clinical genetics exams and diagnosing single-gene diseases. It also effectively outlined the current limitations and prospective trends in clinical genetics. However, ChatGPT struggled to provide comprehensive answers regarding multi-gene or epigenetic diseases, particularly with respect to genetic variations or chromosomal abnormalities. In terms of systematic summarization and inference, some randomness was evident in ChatGPT's responses. In summary, while ChatGPT possesses a foundational understanding of general knowledge in clinical genetics due to hyperparameter learning, it encounters significant challenges when delving into specialized knowledge and navigating the complexities of clinical genetics, particularly in mitigating 'Knowledge Hallucination'. To optimize its performance and depth of expertise in clinical genetics, integration with specialized knowledge databases and knowledge graphs is imperative.

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