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AI is becoming increasingly used in healthcare in a wide range of uses, including one of the most critical: diagnosis. There is a big chance of misdiagnosis, especially in cases of rare diseases. More than 300 million people, or 3.5% of the global population, live with rare diseases such as Dravet syndrome, cystic fibrosis, and hemophilia. About 70% of these rare diseases begin in childhood.
In 2017 Julián Isla co-founded a nonprofit dedicated to AI for healthcare innovation called Foundation 29. That same year, he connected with Satya Nadella, Microsoft’s chairman and CEO. Both are fathers to children with diseases at a young age — one is a rare illness and the other cerebral palsy. Together they’ve had an impact on healthcare that may last for years to come.
A father’s search for answers
Julián Isla was a software engineer who worked for Microsoft in Madrid for 27 years. His son was three months old when he showed symptoms of Dravet syndrome, a severe neurological condition that affects young children. But the diagnosis came only after over 10 months of misdiagnosis and improper treatment, which resulted in the child experiencing up to 20 seizures a day.
The condition of his son and the misdiagnosis caused Isla distress, anxiety, and uncertainty. He believed that this was an area where technology could be most helpful. “I had a thorn in my side from my son’s experience, and couldn’t understand why no technology was being used,” Isla said in an interview. “We felt fear and uncertainty. We spent time and money visiting many specialists, trying to find an answer.”
Doctors can only do so much with the skills, expertise, and tools that they have. But with the help of technology, outcomes could improve significantly. AI can make a difference in healthcare, especially in diagnosing rare diseases, by saving time and increasing accuracy.
Isla called AI “a facilitator” in “the odyssey of diagnosis.”
Turning personal tragedy into innovation
Nadella’s own son was born with cerebral palsy. After hearing about how technology can help those with similar special needs, Isla emailed Nadella and opened up his idea of the possibility of using Microsoft’s existing technology to provide better diagnoses.
“I want to provide diagnoses for those without one,” he wrote. “It’s achievable. Microsoft has the technology to make it happen.”
Nadella responded within five minutes and facilitated the collaboration with Isla and Microsoft teams on AI for healthcare.
DxGPT: AI-powered diagnosis for rare diseases
With Microsoft’s backing, Isla’s Foundation 29 used AI algorithms to develop a diagnostic device. In 2023 the team released DxGPT, a large language model-based diagnostic tool hosted on Microsoft’s Azure Cloud.
Using OpenAI’s GPT-4o and o1, DxGPT offers fast, efficient, and accurate responses as the models are trained with medical and clinical data available to the public as well as exclusive data from healthcare provider partners. DxGPT’s clinical tests must pass through committee evaluation and must comply with the EU’s General Data Protection Regulation (GDPR).
AI-powered tools have been used in hospitals as medical virtual assistants or medical image analysts, and in surgery rooms. Although some concerns arise about data privacy and data protection policies that some AI models may have violated.
More than 6,000 doctors in Madrid use DxGPT, which is accessible for free, offering faster diagnosis which eases the travails of patients. Today, more than 500,000 people use the AI healthcare platform across the U.S., Europe, and Asia.
“We have transformed a personal problem into something that can help others,” Isla said. “It fills you with satisfaction. Being able to do something for others is rewarding.”