Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence in diagnosing rare diseases

This study has demonstrated the potential of the differential diagnostic tool "Isabel Healthcare DDx companion" to assist in patient diagnosis. However, discrepancies between the tool's findings and expert decisions suggest that, although it can support clinicians in decision-making, its independent effectiveness may be limited by accurately filtering and interpreting the essential medical history required for a precise diagnosis.