Partners in Diagnosis: ChatGPT, a Mother’s Intuition, and a Doctor’s Expertise with Courtney Hofmann

In this episode of NEJM AI Grand Rounds, hosts Raj Manrai and Andy Beam interview Courtney Hofmann, a mother whose use of ChatGPT led to her son’s diagnosis of tethered cord syndrome after seeing 17 doctors over three years, and Dr. Holly Gilmer, the pediatric neurosurgeon who confirmed and treated the condition. The conversation explores how AI helped bridge diagnostic gaps, systemic health care challenges that led to missed diagnoses, and the evolving role of AI in patient advocacy and medical practice. The episode highlights the importance of combining AI insights with human medical expertise, while discussing both the potential and limitations of AI in health care.

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I've found gpt very helpful with my geriatric dogs. Not many vets have experience with elderly animals.
Treating it as a very knowledgeable but also drunk person is useful.
I throw their full history, blood test results etc into it, tell it that it is a specialist vet consulting with a student and tell it to ask me questions to find out more to find a diagnosis.
Don't generally just ask it what's wrong, you'll get confidently wrong or incomplete answers. Half the benifit comes from getting extra history, symptoms that you thought were inconsequential or hadn't thought of as a symptom.

O1 is amazing at interpreting all the information and getting you diagnosis and importantly suggesting unusual, rare or missed diagnosis.

Giving different intial prompts to a few instances telling each that it is portraying different specialists that are collaborating together in a conversation on a diagnosis can be useful too. Studies showed greatly increased diagnostic power from this approach.