As I was preparing for my clinic the following day, I noticed one of the patients had already undergone genetic testing through another specialty and been diagnosed with a rare genetic disorder. Given the breadth of conditions we encounter as clinical geneticists, it’s common to come across disorders we’ve never seen before. I did my homework: reviewed the literature, learned the condition, and outlined a management plan.

The next day, I walked into the room to meet a healthy-appearing, intellectually sharp software engineer who worked professionally in artificial intelligence (AI). As I collected his history, he explained that he had self-diagnosed his condition using a large language model (LLM), inputting lab results and clinical features. Initially, the specialist managing the conditi

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