ArticleBMC medical informatics and decision making2022
Evaluation of medical decision support systems (DDX generators) using real medical cases of varying complexity and origin.
Article in BMC medical informatics and decision making, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed.
- Collaborative and Cooperative Hospital "In-House" Medical Device Development and Implementation in the AI Age: The European Responsible AI Development (EURAID) Framework Compatible With European Values.Journal of medical Internet research · 2026Article
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- Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence in diagnosing rare diseases.Orphanet journal of rare diseases · 2025Article
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- Artificial intelligence vs. emergency physicians: who diagnoses better?Revista da Associacao Medica Brasileira (1992) · 2025Article
- On the role of the UMLS in supporting diagnosis generation proposed by Large Language Models.Journal of biomedical informatics · 2024Article
- Rare diseases: why is a rapid referral to an expert center so important?BMC health services research · 2023Article
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Abstract
backgroundMedical decision support systems (CDSSs) are increasingly used in medicine, but their utility in daily medical practice is difficult to evaluate. One variant of CDSS is a generator of differential diagnoses (DDx generator). We performed a feasibility study on three different, publicly available data sets of medical cases in order to identify the frequency in which two different DDx generators provide helpful information (either by providing a list of differential diagnosis or recognizing the expert diagnosis if available) for a given case report.
methodsUsed data sets were n = 105 cases from a web-based forum of telemedicine with real life cases from Afghanistan (Afghan data set; AD), n = 124 cases discussed in a web-based medical forum (Coliquio data set; CD). Both websites are restricted for medical professionals only. The third data set consisted 50 special case reports published in the New England Journal of Medicine (NEJM). After keyword extraction, data were entered into two different DDx generators (IsabelHealth (IH), Memem7 (M7)) to examine differences in target diagnosis recognition and physician-rated usefulness between DDx generators.
resultsBoth DDx generators detected the target diagnosis equally successfully (all cases: M7, 83/170 (49%); IH 90/170 (53%), NEJM: M7, 28/50 (56%); IH, 34/50 (68%); differences n.s.). Differences occurred in AD, where detection of an expert diagnosis was less successful with IH than with M7 (29.7% vs. 54.1%, p = 0.003). In contrast, in CD IH performed significantly better than M7 (73.9% vs. 32.6%, p = 0.021). Congruent identification of target diagnosis occurred in only 46/170 (27.1%) of cases. However, a qualitative analysis of the DDx results revealed useful complements from using the two systems in parallel.
conclusionBoth DDx systems IsabelHealth and Memem7 provided substantial help in finding a helpful list of differential diagnoses or identifying the target diagnosis either in standard cases or complicated and rare cases. Our pilot study highlights the need for different levels of complexity and types of real-world medical test cases, as there are significant differences between DDx generators away from traditional case reports. Combining different results from DDx generators seems to be a possible approach for future review and use of the systems.
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