Pierantonio Russo, MD, Chief Medical Officer at Eversana, discusses the expanding role artificial intelligence (AI) plays in the diagnostics of rare conditions.
As noted by Dr. Russo, diagnostic delays are expected in rare diseases due to many factors. A main factor is that many rare conditions do not have an ICD-10 code associated with them. Furthermore, electronic records show signs and symptoms of a rare disease in a patient’s history. However, doctors generally identify those symptoms as part of the rare condition only after diagnosing the disease.
To remedy this latter problem, AI can read past medical records of patients. Then, using data from known natural history data can determine if these new patients are at risk for having a rare condition. The physician can receive the notation and then decide whether their patient should undergo testing for that condition and/or receive a referral to a center of excellence.
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