Kan AI diagnosticere visse sjældne sygdomme ud fra elektroniske patientjournaler ?
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Diagnostiske ledsagemodeller i 2024 fandt tilfælde af sjældne tilstande, som klinikere havde overset, både i træningsdata og i levende forsøg.
Background
Over the past few years several groups have built transformer-based models that read longitudinal EHR sequences and flag patients whose symptom trajectories match curated rare-disease cohorts. In 2023 a system trained on more than 30,000 US patient records achieved a positive predictive value above 0.7 for four lysosomal storage disorders but fell below 0.5 for a rarer glycogenosis subtype, illustrating uneven performance across disorders. A multi-centre study published the same year compared two proprietary LLMs fine-tuned on anonymised records from specialist clinics and found they recovered 79 % of previously missed cases of Niemann-Pick type C while introducing one false positive per ten true positives. Workflows that combine structured billing codes with unstructured clinician notes have shown the biggest gains, yet they remain brittle when applied to centres whose documentation styles diverge from the training corpora. At least one large health-system rollout was paused after an audit revealed clinically significant drift when ICD-10 codes were updated, underscoring the maintenance burden of keeping rare-disease models current.
SOURCE: BMJ, 2024
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Kan AI diagnosticere visse sjældne sygdomme ud fra elektroniske patientjournaler?
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The Case File
Across 25 sessions, 61 jurors have heard this case. Combined tally: 11 YES · 47 ALMOST · 3 NO · 0 IN RESEARCH.
Note: cumulative includes older juror opinions. The current session tally above is the live verdict.
By a vote of 0 — 1 — 0, the panel returns a verdict of NæSTEN, with verdict confidence of 90%. The court so orders.
"AI models show high accuracy on specific rare disease datasets but lack generalization across the full spectrum of rare diseases in real-world EHRs."
Individuelle nævningers udtalelser vises på originalengelsk for at bevare bevismæssig præcision.
Hvad publikum mener
Nej 6% · Ja 91% · Måske 3% 236 votesDiskussion
no comments⚖ 25 jury checks · seneste for 21 timer siden
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