近日，一名长年受病痛困扰的患者，在数十位医生无法确诊下，将自身完整病史输入OpenAI 的人工智能模型ChatGPT，获AI直接点出MTHFR A1298C基因突变，成为诊断突破口。这类基因突变会影响叶酸代谢，约有7%至12%的美国人口受到影响。ChatGPT指出，虽然病患的B12数值正常，但其持续神经疼痛与疲劳感不符，推论可能存在甲基化阻断。内科医师审核后也认可该基因异常与症状高度吻合，最终确认AI诊断正确。 该事件在医疗圈引发关注，OpenAI总裁Greg Brockman也转发案例表态支持。此前Reddit论坛上亦有多位网友分享ChatGPT协助确诊的经历。通用人工智能(AGI)观察者Rohan Paul表示，AI模型提供的第二意见应成为诊疗流程的一部分。 除OpenAI之外，微软、谷歌等巨头亦已投入AI医疗技术。微软近期发布AI诊断平台MAI-DxO，在评估《新英格兰医学期刊》(NEJM)病例时，准确率高达85%，是专业医生的四倍，成本也更低。据悉，该AI系统每日处理超过5000万次健康相关互动，包括初步症状查询到寻找诊所。
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