Currently, artificial intelligence is implemented in many of the actions we carry out in our daily lives, with ChatGPT as a consumer AI that has marked a before and after. Now This technology also reaches the field of health with the aim of helping the diagnosis of rare diseases. And the first place where it will be implemented in our country is in the health system of the Community of Madrid.
And this new tool, which is a pioneer in the entire world, is the result of the agreement between the Community of Madrid, Fundación 29 and Microsoft. Your goal is improve healthcare for patients and the work of doctors in diagnosing rare diseases. This tool is currently in a pilot project and is intended to be used in Primary Care to speed up referral to a specialist.
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An AI like ChatGPT that will help diagnose rare diseases
The tool in question is called dxGPT, a generative AI that we have already been able to test, showing very good behavior. Yes ok, This will reach the systems of the CAM Primary Care doctors through its own internal IT tool.
And currently there are many ‘rare diseases’ that can occur and that have a complicated diagnosis. This leads to the fact that on average It takes about five years to diagnose and offer treatment.or that can slow down its progression or cure it. In addition, it also involves going through different specialists and receiving treatment that can sometimes be wrong and therefore aggravate the initial illness.
This application, as we have mentioned, is a conversational assistant developed by OpenAI by using the most advanced AI models (GPT-4 and GPT-3.5) together with Azure services. Its operation is very simple, since can be categorized as a ‘ChatGPT for doctors’ when entering open text with different details. Normally the doctor here must introduce a patient’s history (for example, if he has paralysis of the lower limbs with febrile processes or seizures).
Obviously, you accept complex medical terminology that the AI is going to analyze as a whole. As a result of entering this data A list of diseases that match that list of symptoms will be generatedbeing able to select whether rare diseases (such as syndromes with a low incidence) or common diseases should be shown.
In particular, we have been able to use it by introducing the classic history of a person who may suffer from Guillain-Barre syndrome, highlighting paralysis in the lower limbs without a history of trauma. And the truth is that We were surprised by how well it worked.. The list of results shows all the possible diseases with a description of them, and at the bottom you can add tests that have been done, new symptoms or genetic tests to refine the result.

Obviously this is a tool that is not intended to replace a doctor. Simply gives you more diagnostic tools when dealing with a complicated or unusual case with the aim of being able to refer to the most appropriate specialist or request studies that allow obtaining results quickly. This can avoid excessive waiting for the patient, being a field to explore in medicine that is really interesting for us.
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