{"title":"人工智能在医学遗传学中获得了太多的赞誉吗?","authors":"Imen F. Alkuraya","doi":"10.1002/ajmg.c.32062","DOIUrl":null,"url":null,"abstract":"<p>Artificial intelligence has lately proven useful in the field of medical genetics. It is already being used to interpret genome sequences and diagnose patients based on facial recognition. More recently, large-language models (LLMs) such as ChatGPT have been tested for their capacity to provide medical genetics information. It was found that ChatGPT performed similarly to human respondents in factual and critical thinking questions, albeit with reduced accuracy in the latter. In particular, ChatGPT's performance in questions related to calculating the recurrence risk was dismal, despite only having to deal with a single disease. To see if challenging ChatGPT with more difficult problems may reveal its flaws and their bases, it was asked to solve recurrence risk problems dealing with two diseases instead of one. Interestingly, it managed to correctly understand the mode of inheritance of recessive diseases, yet it incorrectly calculated the probability of having a healthy child. Other LLMs were also tested and showed similar noise. This highlights a major limitation for clinical use. While this shortcoming may be solved in the near future, LLMs may not be ready yet to be used as an effective clinical tool in communicating medical genetics information.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8000,"publicationDate":"2023-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32062","citationCount":"1","resultStr":"{\"title\":\"Is artificial intelligence getting too much credit in medical genetics?\",\"authors\":\"Imen F. Alkuraya\",\"doi\":\"10.1002/ajmg.c.32062\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>Artificial intelligence has lately proven useful in the field of medical genetics. It is already being used to interpret genome sequences and diagnose patients based on facial recognition. More recently, large-language models (LLMs) such as ChatGPT have been tested for their capacity to provide medical genetics information. It was found that ChatGPT performed similarly to human respondents in factual and critical thinking questions, albeit with reduced accuracy in the latter. In particular, ChatGPT's performance in questions related to calculating the recurrence risk was dismal, despite only having to deal with a single disease. To see if challenging ChatGPT with more difficult problems may reveal its flaws and their bases, it was asked to solve recurrence risk problems dealing with two diseases instead of one. Interestingly, it managed to correctly understand the mode of inheritance of recessive diseases, yet it incorrectly calculated the probability of having a healthy child. Other LLMs were also tested and showed similar noise. This highlights a major limitation for clinical use. While this shortcoming may be solved in the near future, LLMs may not be ready yet to be used as an effective clinical tool in communicating medical genetics information.</p>\",\"PeriodicalId\":7445,\"journal\":{\"name\":\"American Journal of Medical Genetics Part C: Seminars in Medical Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2023-08-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32062\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Medical Genetics Part C: Seminars in Medical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.32062\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.32062","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Is artificial intelligence getting too much credit in medical genetics?
Artificial intelligence has lately proven useful in the field of medical genetics. It is already being used to interpret genome sequences and diagnose patients based on facial recognition. More recently, large-language models (LLMs) such as ChatGPT have been tested for their capacity to provide medical genetics information. It was found that ChatGPT performed similarly to human respondents in factual and critical thinking questions, albeit with reduced accuracy in the latter. In particular, ChatGPT's performance in questions related to calculating the recurrence risk was dismal, despite only having to deal with a single disease. To see if challenging ChatGPT with more difficult problems may reveal its flaws and their bases, it was asked to solve recurrence risk problems dealing with two diseases instead of one. Interestingly, it managed to correctly understand the mode of inheritance of recessive diseases, yet it incorrectly calculated the probability of having a healthy child. Other LLMs were also tested and showed similar noise. This highlights a major limitation for clinical use. While this shortcoming may be solved in the near future, LLMs may not be ready yet to be used as an effective clinical tool in communicating medical genetics information.
期刊介绍:
Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.