人工智能在医学遗传学中获得了太多的赞誉吗?

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-08-22 DOI:10.1002/ajmg.c.32062
Imen F. Alkuraya
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引用次数: 1

摘要

人工智能最近被证明在医学遗传学领域是有用的。它已经被用于解释基因组序列和基于面部识别的患者诊断。最近,像ChatGPT这样的大型语言模型(LLM)已经测试了它们提供医学遗传学信息的能力。研究发现,ChatGPT在事实和批判性思维问题上的表现与人类受访者相似,尽管后者的准确性有所下降。特别是,尽管只需要处理一种疾病,但ChatGPT在计算复发风险相关问题上的表现令人沮丧。为了观察用更困难的问题挑战ChatGPT是否会揭示其缺陷及其基础,它被要求解决两种疾病而不是一种疾病的复发风险问题。有趣的是,它成功地正确理解了隐性疾病的遗传模式,但却错误地计算了生一个健康孩子的概率。其他LLM也进行了测试,显示出类似的噪音。这突出了临床使用的一个主要限制。虽然这一缺点可能在不久的将来得到解决,但LLM可能还没有准备好用作交流医学遗传学信息的有效临床工具。
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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.

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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
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.
期刊最新文献
My Journey With Arthrogryposis and Some of the People Who Made a Difference. Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation. Correction to "Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community". Family Lore, a Variant of Uncertain Significance, and CADASIL. Pink, White, and Probability.
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