Artificial intelligence tools are helping patients and physicians identify rare and hard-to-diagnose diseases faster, according to an Aug. 15 report from The Wall Street Journal.
The report cited several cases in which AI helped care teams or patients arrive at rare diagnoses, which can often take five years or longer to reach through conventional means.
In one case, a nurse practitioner at Mayo Clinic in Rochester, Minn., used an internally developed, FDA-cleared AI tool that flagged a 98% probability of cardiac amyloidosis in a male patient initially suspected of having pneumonia or heart failure, the Journal reported. Follow-up imaging confirmed the diagnosis — one the NP had never made before.
Emerging research backs up this trend. A study published last year in a JAMA Network Open found two AI chatbots correctly diagnosed 13% and 10% of 90 previously solved complex rare-disease cases, respectively, compared with 5.6% for physicians who reviewed medical records alone.
Patients are also turning to AI directly. After years of being unconvinced by physicians who dismissed her son’s growth delays and short stature, a mother in New York uploaded his photo to Face2Gene, an AI-assisted app that uses facial analysis to flag rare genetic disorders. The tool surfaced a strong match for trichorhinophalangeal syndrome, a rare genetic disorder that can cause painful bone and joint problems, which genetic testing later confirmed.
This momentum extends beyond individual diagnoses. In July, Anthropic shared plans to fund biotech research into rare-disease drug development and diagnosis, betting its Claude AI model can accelerate the process.
Still, physicians told the Journal that AI diagnostic tools remain limited by sparse, poorly digitized data on rare conditions and require human oversight to confirm results.
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