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

Sendtner, G.W., Muecke, M., Grigull, L. et al. Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence in diagnosing rare diseases. Orphanet J Rare Dis 20, 564 (2025). doi:10.1186/s13023-025-04112-5

In this study, we showed that the differential diagnostic tool “Isabel Healthcare” can assist in identifying patient diagnoses. However, discrepancies between the tool’s output and the interdisciplinary case conferences were observed, indicating that while “Isabel Healthcare” can aid clinicians when filtered input is applied, it may not yet be fully effective on its own. Our findings highlight the potential of tools like “Isabel Healthcare” in the diagnostic process but emphasize the essential role of clinicians in filtering and contextualizing medical information.