Clinical trajectories and genetic architecture across the neurological-psychiatric boundary
Kopal, J.; Smeland, O. B.; Hagen, E.; Amanzadi, A.; Erdos, B.; Fuhrer, J.; Shadrin, A. A.; Frei, O.; van der Meer, D.; O'Connell, K. S.; Dale, A. M.; Andreassen, O. A.
Show abstract
Foundation models trained on health records are increasingly used to represent human disease, but whether their embeddings reflect biology is hard to establish. We validate disease trajectory embeddings from an attention-based transformer against an external signal: genome-wide genetic architecture. Across 19 neurological and psychiatric disorders, clinical trajectory similarity mirrors genetic similarity, and the model recovers the same neurological-psychiatric boundary that emerges from genetic data, including which disorders cross it. A model with no access to diagnostic labels or genetic data thus recovers biological structure it was never trained on.
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