Скачать или смотреть Using Artificial Intelligence to Diagnose Rare Diseases

Pierantonio Russo, MD, Chief Medical Officer at Eversana, discusses the expanding role artificial intelligence (AI) plays in diagnosing rare conditions.

As noted by Dr. Russo, diagnostic delays are common in rare diseases. This is due to many factors but a main factor, according to Dr. Russo, 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, identifying those symptoms as part of the rare condition generally only occurs after the disease has been diagnosed.

To remedy this latter problem, Dr. Russo noted that AI can read past medical records of patients, and using data from known natural history data, it can determine if these new patients are at risk for having a rare condition. That notation can then be sent to the physician who can then decide if these new patients are at risk for having a rare condition.