Evidence map›Paper›PMID 42090313›Full record

ArticleJournal of the American Medical Informatics Association : JAMIA2026

Disparate language and model effects on AI-based translation and recognition of genetic conditions.

Dat Duong, Irini Manoli, Shubha R Phadke, Chanika Phornphutkul, Jonathan D Raymond, Benjamin D Solomon

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Article in Journal of the American Medical Informatics Association : JAMIA, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Dat DuongMedical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, United States.
Irini ManoliMetabolic Medicine Branch, National Human Genome Research Institute, Bethesda, Maryland, United States.
Shubha R PhadkeMedical Genetics, Jupiter Hospital, Baner, Pune, India.
Chanika PhornphutkulDivision of Genetics and Metabolism, Brown University, Providence, Rhode Island, United States.ORCID 0000-0002-0130-9101
Jonathan D RaymondMedical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, United States.
Benjamin D SolomonMedical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, United States.

Funding

Intramural Research Program of the National Human Genome Research Institute of the National Institutes of HealthNational Human Genome Research Institute of the National Institutes of Health
6 · The paper itself

Abstract

introductionArtificial intelligence (AI) is increasingly prevalent. Patients and clinicians may use AI-based tools in many different languages.

objectiveTo investigate AI translation tools for descriptions of genetic conditions and how AI identification of genetic conditions is affected by translations. MATERIALS AND

methodsWe used Neural machine translation (NMT) and large language-model (LLM) translation to translate descriptions of 40 genetic conditions into 191 and 93 languages, respectively. Excluding translations retaining English medical terms verbatim, we respectively focused on 139 and 70 languages. After assessing translations, we assessed the ability of 3 proprietary and 3 open-weight general LLMs to identify conditions in the translations. We analyzed how accuracy was affected by the conditions' prevalence in the literature, and attributes of the languages (the script, language family, and prevalence of the language in training sources). We also investigated adaptive translation for select languages.

resultsWe found significant differences in condition identification based on the translation method, condition, language, and prediction model. The accuracy of some models was more affected than others by factors like the conditions' literature prevalence, language script, family, and language prevalence. Adaptive translation for select languages did not improve translations or diagnostic accuracy with the 3 tested LLMs. However, further analysis with 1 language showed that this approach was more effective with smaller LLMs.

conclusionsAI-based translation has variable performance, which can affect the ability of AI models to recognize genetic conditions. These findings should inform safe medical AI use to support consistent performance in different languages.

Indexed as

Artificial IntelligenceLanguageNeural Networks, ComputerTranslatingHumansIntelligent SystemsLarge Language ModelsNatural Language Processingartificial intelligencelarge language modelmedical geneticsmedical genomicstranslation

Identifiers

PMID42090313
PMCPMC13317944

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