首页 > 最新文献

Journal of the American Medical Informatics Association最新文献

英文 中文
Benchmarking LLMs for hospital-course summarisation: aligning metrics with clinical factuality, safety, and robustness. 标杆法学硕士的医院课程总结:调整指标与临床事实,安全性和稳健性。
IF 4.6 2区 医学 Q1 COMPUTER SCIENCE, INFORMATION SYSTEMS Pub Date : 2026-02-10 DOI: 10.1093/jamia/ocag023
Jose Zablah, Yolly Molina, Antonio Garcia Loureiro
{"title":"Benchmarking LLMs for hospital-course summarisation: aligning metrics with clinical factuality, safety, and robustness.","authors":"Jose Zablah, Yolly Molina, Antonio Garcia Loureiro","doi":"10.1093/jamia/ocag023","DOIUrl":"https://doi.org/10.1093/jamia/ocag023","url":null,"abstract":"","PeriodicalId":50016,"journal":{"name":"Journal of the American Medical Informatics Association","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146203642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evidence-based medicine on FHIR augments the standards-based approach to digital health research. 基于FHIR的循证医学增强了基于标准的数字健康研究方法。
IF 4.6 2区 医学 Q1 COMPUTER SCIENCE, INFORMATION SYSTEMS Pub Date : 2026-02-10 DOI: 10.1093/jamia/ocag024
Brian S Alper, Joanne Dehnbostel, Harold Lehmann
{"title":"Evidence-based medicine on FHIR augments the standards-based approach to digital health research.","authors":"Brian S Alper, Joanne Dehnbostel, Harold Lehmann","doi":"10.1093/jamia/ocag024","DOIUrl":"https://doi.org/10.1093/jamia/ocag024","url":null,"abstract":"","PeriodicalId":50016,"journal":{"name":"Journal of the American Medical Informatics Association","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146203644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Letter to the Editor in response to "Optimizing example-selection in retrieval-augmented biomedical in-context learning: reflections on the MMRAG study". 致编辑的回复“优化检索增强生物医学语境学习中的例子选择:对MMRAG研究的反思”的信。
IF 4.6 2区 医学 Q1 COMPUTER SCIENCE, INFORMATION SYSTEMS Pub Date : 2026-02-09 DOI: 10.1093/jamia/ocaf237
Zaifu Zhan, Rui Zhang
{"title":"Letter to the Editor in response to \"Optimizing example-selection in retrieval-augmented biomedical in-context learning: reflections on the MMRAG study\".","authors":"Zaifu Zhan, Rui Zhang","doi":"10.1093/jamia/ocaf237","DOIUrl":"https://doi.org/10.1093/jamia/ocaf237","url":null,"abstract":"","PeriodicalId":50016,"journal":{"name":"Journal of the American Medical Informatics Association","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146202787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Optimizing example-selection in retrieval-augmented biomedical in-context learning: reflections on the MMRAG study. 检索增强生物医学语境学习中优化样本选择:对MMRAG研究的反思。
IF 4.6 2区 医学 Q1 COMPUTER SCIENCE, INFORMATION SYSTEMS Pub Date : 2026-02-06 DOI: 10.1093/jamia/ocaf236
Weihao Cheng
{"title":"Optimizing example-selection in retrieval-augmented biomedical in-context learning: reflections on the MMRAG study.","authors":"Weihao Cheng","doi":"10.1093/jamia/ocaf236","DOIUrl":"https://doi.org/10.1093/jamia/ocaf236","url":null,"abstract":"","PeriodicalId":50016,"journal":{"name":"Journal of the American Medical Informatics Association","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146202867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The subtleties of abolishing "race correction" in clinical artificial intelligence. 废除临床人工智能中“种族矫正”的微妙之处。
IF 4.6 2区 医学 Q1 COMPUTER SCIENCE, INFORMATION SYSTEMS Pub Date : 2026-02-04 DOI: 10.1093/jamia/ocag012
Moustafa Abdalla, LLana James, David S Jones, Mohamed Abdalla

Objectives: To explore the complexities of eliminating race correction in clinical artificial intelligence (AI), the pitfalls of naive solutions, and to propose systematic strategies for equitable model development.

Background and significance: Race correction in clinical AI, as in traditional medicine, introduces biases with potentially harmful consequences. Simple removal of race from models is insufficient due to the lasting influence of historically biased data.

Approach: We analyze 4 standardized scenarios to demonstrate how race correction manifests in clinical AI: use of race-corrected variables, explicit inclusion of race, inference via proxy variables, and use of race-specific models.

Results: For each scenario, the intuitive solution to removing race correction fails to eliminate bias, often due to legacy effects embedded in the data. More thoughtful approaches are required.

Discussion: Ending race correction in clinical AI requires deliberate, context-sensitive interventions, inclusion of diverse stakeholders, and strategies to make model reasoning more transparent and auditable.

目的:探讨消除临床人工智能(AI)中种族纠正的复杂性,幼稚解决方案的陷阱,并提出公平模型开发的系统策略。背景和意义:与传统医学一样,临床人工智能中的种族纠正会引入偏见,并带来潜在的有害后果。由于历史上有偏见的数据的持久影响,简单地从模型中删除种族是不够的。方法:我们分析了4种标准化场景,以展示种族纠正如何在临床人工智能中表现出来:使用种族纠正变量,明确包含种族,通过代理变量进行推理,以及使用种族特定模型。结果:对于每种情况,消除种族校正的直观解决方案都无法消除偏见,这通常是由于数据中嵌入的遗留效应。需要更深思熟虑的方法。讨论:在临床人工智能中结束种族纠正需要深思熟虑的、上下文敏感的干预措施,包括不同的利益相关者,以及使模型推理更加透明和可审计的策略。
{"title":"The subtleties of abolishing \"race correction\" in clinical artificial intelligence.","authors":"Moustafa Abdalla, LLana James, David S Jones, Mohamed Abdalla","doi":"10.1093/jamia/ocag012","DOIUrl":"https://doi.org/10.1093/jamia/ocag012","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the complexities of eliminating race correction in clinical artificial intelligence (AI), the pitfalls of naive solutions, and to propose systematic strategies for equitable model development.</p><p><strong>Background and significance: </strong>Race correction in clinical AI, as in traditional medicine, introduces biases with potentially harmful consequences. Simple removal of race from models is insufficient due to the lasting influence of historically biased data.</p><p><strong>Approach: </strong>We analyze 4 standardized scenarios to demonstrate how race correction manifests in clinical AI: use of race-corrected variables, explicit inclusion of race, inference via proxy variables, and use of race-specific models.</p><p><strong>Results: </strong>For each scenario, the intuitive solution to removing race correction fails to eliminate bias, often due to legacy effects embedded in the data. More thoughtful approaches are required.</p><p><strong>Discussion: </strong>Ending race correction in clinical AI requires deliberate, context-sensitive interventions, inclusion of diverse stakeholders, and strategies to make model reasoning more transparent and auditable.</p>","PeriodicalId":50016,"journal":{"name":"Journal of the American Medical Informatics Association","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146127231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Development of BERT-based large language models for emergency department triage using real-world conversations. 开发基于bert的大型语言模型,使用真实世界的对话进行急诊科分类。
IF 4.6 2区 医学 Q1 COMPUTER SCIENCE, INFORMATION SYSTEMS Pub Date : 2026-02-04 DOI: 10.1093/jamia/ocag007
Sukyo Lee, Sumin Jung, Jong-Hak Park, Hanjin Cho, Sungwoo Moon, Sejoong Ahn

Objectives: Accurate triage in emergency departments (ED) is critical for appropriate resource allocation. While artificial intelligence (AI) has been explored for triage, prior models relied on summarized clinical scenarios. We aimed to develop and evaluate large language models (LLMs) trained on real-world clinical conversations to classify patient urgency.

Materials and methods: We used a nationally curated dataset of anonymized triage-level conversations from 3 tertiary Korean hospitals. Two BERT-based models were developed to classify urgency per the Korean Triage and Acuity Scale (KTAS) into urgent (KTAS 3) or non-urgent (KTAS 4-5). One model tokenized the entire conversation, while the other applied a hierarchical structure with sentence-level tokenization and speaker-role embeddings. Performance metrics included accuracy, precision, recall, and F1-score. We compared our models against ChatGPT GPT-4o and ClinicalBERT, and assessed explainability using SHapley Additive exPlanations (SHAP).

Results: A total of 5244 clinical conversations, 1057 triage-level dialogues were used, with 950 for training and 107 for testing. Our model with hierarchical structure achieved accuracies of 75.94%, significantly outperforming ChatGPT (56.68%) or fine-tuned ClinicalBERT (69.42%). For urgent cases, the best model achieved a recall of 0.9610, outperforming ChatGPT (0.5352). SHapley Additive exPlanations analysis confirmed that our model focused on clinically relevant cues aligned with KTAS criteria.

Conclusion: BERT-based LLMs trained on real-world ED conversations significantly outperform general-purpose models like ChatGPT in triage accuracy. This approach demonstrates the potential for enhancing clinical decision support with interpretable and efficient AI.

目的:在急诊科(ED)准确的分类是关键的适当的资源分配。虽然人工智能(AI)已经被用于分类,但之前的模型依赖于总结的临床场景。我们的目标是开发和评估大型语言模型(llm),这些模型训练于现实世界的临床对话,以对患者的紧急程度进行分类。材料和方法:我们使用了来自3家韩国三级医院的匿名分类级别对话的国家管理数据集。开发了两个基于bert的模型,根据韩国分诊和急性程度量表(KTAS)将紧急程度分为紧急(KTAS 3)或非紧急(KTAS 4-5)。一个模型将整个对话标记化,而另一个模型则应用具有句子级标记化和说话者角色嵌入的分层结构。性能指标包括准确性、精密度、召回率和f1分数。我们将我们的模型与ChatGPT gpt - 40和ClinicalBERT进行比较,并使用SHapley加法解释(SHAP)评估可解释性。结果:共使用5244个临床对话,1057个分诊级别对话,其中950个用于培训,107个用于测试。我们的分层结构模型达到了75.94%的准确率,显著优于ChatGPT(56.68%)或微调后的ClinicalBERT(69.42%)。对于紧急情况,最佳模型的召回率为0.9610,优于ChatGPT(0.5352)。SHapley加性解释分析证实,我们的模型专注于与KTAS标准一致的临床相关线索。结论:基于bert的llm在现实世界的ED对话中训练,在分类准确性方面明显优于ChatGPT等通用模型。这种方法展示了通过可解释和高效的人工智能增强临床决策支持的潜力。
{"title":"Development of BERT-based large language models for emergency department triage using real-world conversations.","authors":"Sukyo Lee, Sumin Jung, Jong-Hak Park, Hanjin Cho, Sungwoo Moon, Sejoong Ahn","doi":"10.1093/jamia/ocag007","DOIUrl":"https://doi.org/10.1093/jamia/ocag007","url":null,"abstract":"<p><strong>Objectives: </strong>Accurate triage in emergency departments (ED) is critical for appropriate resource allocation. While artificial intelligence (AI) has been explored for triage, prior models relied on summarized clinical scenarios. We aimed to develop and evaluate large language models (LLMs) trained on real-world clinical conversations to classify patient urgency.</p><p><strong>Materials and methods: </strong>We used a nationally curated dataset of anonymized triage-level conversations from 3 tertiary Korean hospitals. Two BERT-based models were developed to classify urgency per the Korean Triage and Acuity Scale (KTAS) into urgent (KTAS 3) or non-urgent (KTAS 4-5). One model tokenized the entire conversation, while the other applied a hierarchical structure with sentence-level tokenization and speaker-role embeddings. Performance metrics included accuracy, precision, recall, and F1-score. We compared our models against ChatGPT GPT-4o and ClinicalBERT, and assessed explainability using SHapley Additive exPlanations (SHAP).</p><p><strong>Results: </strong>A total of 5244 clinical conversations, 1057 triage-level dialogues were used, with 950 for training and 107 for testing. Our model with hierarchical structure achieved accuracies of 75.94%, significantly outperforming ChatGPT (56.68%) or fine-tuned ClinicalBERT (69.42%). For urgent cases, the best model achieved a recall of 0.9610, outperforming ChatGPT (0.5352). SHapley Additive exPlanations analysis confirmed that our model focused on clinically relevant cues aligned with KTAS criteria.</p><p><strong>Conclusion: </strong>BERT-based LLMs trained on real-world ED conversations significantly outperform general-purpose models like ChatGPT in triage accuracy. This approach demonstrates the potential for enhancing clinical decision support with interpretable and efficient AI.</p>","PeriodicalId":50016,"journal":{"name":"Journal of the American Medical Informatics Association","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146127197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gaps in artificial intelligence research for rural health in the United States: a scoping review. 美国农村卫生领域人工智能研究的差距:范围审查。
IF 4.6 2区 医学 Q1 COMPUTER SCIENCE, INFORMATION SYSTEMS Pub Date : 2026-02-01 DOI: 10.1093/jamia/ocaf206
Katherine E Brown, Sharon E Davis

Objective: Artificial intelligence (AI) has impacted healthcare at urban and academic medical centers in the US. There are concerns, however, that the promise of AI may not be realized in rural communities. This scoping review aims to determine the extent of AI research in the rural US.

Materials and methods: We conducted a scoping review following the PRISMA guidelines. We included peer-reviewed, original research studies indexed in PubMed, Embase, and WebOfScience after January 1, 2010 and through April 29, 2025. Studies were required to discuss the development, implementation, or evaluation of AI tools in rural US healthcare, including frameworks that help facilitate AI development (eg, data warehouses).

Results: Our search strategy found 26 studies meeting inclusion criteria after full text screening with 14 papers discussing predictive AI models and 12 papers discussing data or research infrastructure. AI models most often targeted resource allocation and distribution. Few studies explored model deployment and impact. Half noted the lack of data and analytic resources as a limitation. None of the studies discussed examples of generative AI being trained, evaluated, or deployed in a rural setting.

Discussion: Practical limitations may be influencing and limiting the types of AI models evaluated in the rural US. Validation of tools in the rural US was underwhelming.

Conclusion: With few studies moving beyond AI model design and development stages, there are clear gaps in our understanding of how to reliably validate, deploy, and sustain AI models in rural settings to advance health in all communities.

目的:人工智能(AI)已经影响了美国城市和学术医疗中心的医疗保健。然而,有人担心,人工智能的前景可能无法在农村社区实现。这一范围审查旨在确定人工智能研究在美国农村的程度。材料和方法:我们按照PRISMA指南进行了范围审查。我们收录了2010年1月1日至2025年4月29日期间在PubMed、Embase和WebOfScience中被索引的同行评议的原创研究。需要进行研究,讨论美国农村医疗保健中人工智能工具的开发、实施或评估,包括有助于促进人工智能开发的框架(例如,数据仓库)。结果:经过全文筛选,我们的搜索策略发现26篇研究符合纳入标准,其中14篇论文讨论预测人工智能模型,12篇论文讨论数据或研究基础设施。人工智能模型通常针对资源分配和分配。很少有研究探讨模型的部署和影响。一半的人指出缺乏数据和分析资源是一个限制。这些研究都没有讨论在农村环境中训练、评估或部署生成式人工智能的例子。讨论:实际限制可能会影响和限制在美国农村评估的人工智能模型的类型。在美国农村地区,对这些工具的验证并不令人印象深刻。结论:由于很少有研究超越了人工智能模型的设计和开发阶段,我们对如何在农村环境中可靠地验证、部署和维持人工智能模型以促进所有社区健康的理解存在明显差距。
{"title":"Gaps in artificial intelligence research for rural health in the United States: a scoping review.","authors":"Katherine E Brown, Sharon E Davis","doi":"10.1093/jamia/ocaf206","DOIUrl":"10.1093/jamia/ocaf206","url":null,"abstract":"<p><strong>Objective: </strong>Artificial intelligence (AI) has impacted healthcare at urban and academic medical centers in the US. There are concerns, however, that the promise of AI may not be realized in rural communities. This scoping review aims to determine the extent of AI research in the rural US.</p><p><strong>Materials and methods: </strong>We conducted a scoping review following the PRISMA guidelines. We included peer-reviewed, original research studies indexed in PubMed, Embase, and WebOfScience after January 1, 2010 and through April 29, 2025. Studies were required to discuss the development, implementation, or evaluation of AI tools in rural US healthcare, including frameworks that help facilitate AI development (eg, data warehouses).</p><p><strong>Results: </strong>Our search strategy found 26 studies meeting inclusion criteria after full text screening with 14 papers discussing predictive AI models and 12 papers discussing data or research infrastructure. AI models most often targeted resource allocation and distribution. Few studies explored model deployment and impact. Half noted the lack of data and analytic resources as a limitation. None of the studies discussed examples of generative AI being trained, evaluated, or deployed in a rural setting.</p><p><strong>Discussion: </strong>Practical limitations may be influencing and limiting the types of AI models evaluated in the rural US. Validation of tools in the rural US was underwhelming.</p><p><strong>Conclusion: </strong>With few studies moving beyond AI model design and development stages, there are clear gaps in our understanding of how to reliably validate, deploy, and sustain AI models in rural settings to advance health in all communities.</p>","PeriodicalId":50016,"journal":{"name":"Journal of the American Medical Informatics Association","volume":" ","pages":"509-520"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12844595/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145598168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinician, patient, and organizational perspectives on ambient AI scribes. 临床医生、患者和组织对环境人工智能记录仪的看法。
IF 4.6 2区 医学 Q1 COMPUTER SCIENCE, INFORMATION SYSTEMS Pub Date : 2026-02-01 DOI: 10.1093/jamia/ocaf231
Suzanne Bakken
{"title":"Clinician, patient, and organizational perspectives on ambient AI scribes.","authors":"Suzanne Bakken","doi":"10.1093/jamia/ocaf231","DOIUrl":"10.1093/jamia/ocaf231","url":null,"abstract":"","PeriodicalId":50016,"journal":{"name":"Journal of the American Medical Informatics Association","volume":"33 2","pages":"253-255"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12844586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146068393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A scoping review of models to identify transgender patients in electronic health records. 电子健康记录中识别跨性别患者模型的范围审查。
IF 4.6 2区 医学 Q1 COMPUTER SCIENCE, INFORMATION SYSTEMS Pub Date : 2026-02-01 DOI: 10.1093/jamia/ocaf185
Robert A Becker, Jhansi U L Kolli, Colin G Walsh

Objective: Electronic health records (EHRs) lack a widely adopted standard for recording transgender and gender diverse (TGD) status, complicating research on TGD health. Computational models have been developed to identify TGD individuals in EHRs; however, gaps remain in understanding which components contribute to stronger phenotyping approaches. This scoping review evaluates EHR-based models for identifying TGD individuals, focusing on identifier types, performance, external validation, and ethical reporting to guide best practices.

Materials and methods: We searched PubMed, CINAHL, Web of Science, and Embase for peer-reviewed articles published before January 2024, following PRISMA-ScR guidelines. Included studies used EHR data to identify TGD individuals, verified TGD status, reported or allowed calculation of positive predictive value (PPV), and listed identifiers. Two authors screened and extracted data. We categorized models by data type and logic (structured, unstructured, and multimodal), summarized PPV distributions, and synthesized author-reported ethical considerations.

Results: Fourteen studies describing 50 models met inclusion criteria. Models using TGD-related diagnostic codes alone (n = 11) or requiring both structured and unstructured data (n = 6) showed the highest mean PPVs (85.3% and 97.1%). Models validated on larger confirmed TGD cohorts reported more stable performance, but external validation was rare. Most studies minimally addressed ethics; only 3 described protective measures or stakeholder engagement.

Discussion: Phenotyping of TGD individuals in EHR data remains heterogeneous in design and ethical transparency. Reported PPVs should be interpreted cautiously, as performance is influenced by study design, sample size, and verification methods.

Conclusions: Our recommendations emphasize the components that strengthen phenotyping approaches-identifier choice, multimodal intersection logic, validation practices, and ethical safeguards-rather than endorsing any single model.

目的:电子健康档案(Electronic health records, EHRs)缺乏广泛采用的跨性别和性别多样性(TGD)状态记录标准,使TGD健康研究复杂化。已经开发了计算模型来识别电子病历中的TGD个体;然而,在了解哪些成分有助于更强的表型方法方面仍然存在差距。此范围审查评估了用于识别TGD个体的基于ehr的模型,重点关注标识符类型、性能、外部验证和道德报告,以指导最佳实践。材料和方法:我们按照PRISMA-ScR指南,检索PubMed、CINAHL、Web of Science和Embase,检索2024年1月之前发表的同行评议文章。纳入的研究使用EHR数据来识别TGD个体,验证TGD状态,报告或允许计算阳性预测值(PPV),并列出标识符。两位作者筛选和提取数据。我们根据数据类型和逻辑(结构化、非结构化和多模态)对模型进行了分类,总结了PPV分布,并综合了作者报告的伦理考虑。结果:14项研究描述50个模型符合纳入标准。单独使用tgd相关诊断代码(n = 11)或同时需要结构化和非结构化数据(n = 6)的模型显示最高的平均ppv(85.3%和97.1%)。在更大的TGD队列中验证的模型报告了更稳定的性能,但外部验证很少。大多数研究很少涉及伦理问题;只有3个描述了保护措施或利益相关者参与。讨论:电子病历数据中TGD个体的表型在设计和伦理透明度方面仍然存在异质性。报告的ppv应谨慎解释,因为性能受研究设计、样本量和验证方法的影响。结论:我们的建议强调加强表型方法的组成部分——标识符选择、多模态交叉逻辑、验证实践和伦理保障——而不是支持任何单一模型。
{"title":"A scoping review of models to identify transgender patients in electronic health records.","authors":"Robert A Becker, Jhansi U L Kolli, Colin G Walsh","doi":"10.1093/jamia/ocaf185","DOIUrl":"10.1093/jamia/ocaf185","url":null,"abstract":"<p><strong>Objective: </strong>Electronic health records (EHRs) lack a widely adopted standard for recording transgender and gender diverse (TGD) status, complicating research on TGD health. Computational models have been developed to identify TGD individuals in EHRs; however, gaps remain in understanding which components contribute to stronger phenotyping approaches. This scoping review evaluates EHR-based models for identifying TGD individuals, focusing on identifier types, performance, external validation, and ethical reporting to guide best practices.</p><p><strong>Materials and methods: </strong>We searched PubMed, CINAHL, Web of Science, and Embase for peer-reviewed articles published before January 2024, following PRISMA-ScR guidelines. Included studies used EHR data to identify TGD individuals, verified TGD status, reported or allowed calculation of positive predictive value (PPV), and listed identifiers. Two authors screened and extracted data. We categorized models by data type and logic (structured, unstructured, and multimodal), summarized PPV distributions, and synthesized author-reported ethical considerations.</p><p><strong>Results: </strong>Fourteen studies describing 50 models met inclusion criteria. Models using TGD-related diagnostic codes alone (n = 11) or requiring both structured and unstructured data (n = 6) showed the highest mean PPVs (85.3% and 97.1%). Models validated on larger confirmed TGD cohorts reported more stable performance, but external validation was rare. Most studies minimally addressed ethics; only 3 described protective measures or stakeholder engagement.</p><p><strong>Discussion: </strong>Phenotyping of TGD individuals in EHR data remains heterogeneous in design and ethical transparency. Reported PPVs should be interpreted cautiously, as performance is influenced by study design, sample size, and verification methods.</p><p><strong>Conclusions: </strong>Our recommendations emphasize the components that strengthen phenotyping approaches-identifier choice, multimodal intersection logic, validation practices, and ethical safeguards-rather than endorsing any single model.</p>","PeriodicalId":50016,"journal":{"name":"Journal of the American Medical Informatics Association","volume":" ","pages":"472-483"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12844585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145446502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Derivation and validation of an algorithm for maternal-child linkage in electronic health records. 电子健康记录中母婴联动算法的推导与验证。
IF 4.6 2区 医学 Q1 COMPUTER SCIENCE, INFORMATION SYSTEMS Pub Date : 2026-02-01 DOI: 10.1093/jamia/ocaf177
Colin M Rogerson, Christopher W Bartlett, John Price, Lang Li, Eneida A Mendonca, Shaun Grannis

Introduction: We created a probabilistic maternal-child electronic health record (EHR) linkage algorithm to promote clinical research in maternal-child health.

Methods: We used EHR data from 1994 to 2024 to create an XGBoost model to predict maternal-child linkages. The model used standard EHR elements as predictor variables, including first name, last name, birthdate, address, phone number, email, and an EHR-embedded maternal-child indicator as the deterministic outcome.

Results: From 82 million unique records, 6.2 billion potential pairs met blocking criteria. Of the potential pairs, 33 364 674 contained the deterministic indicator and were used as cases, and an equal number of controls were randomly sampled. The final model obtained an accuracy of 92%, a precision of 98%, a recall of 87%, and an F1-score of 92%.

Conclusion: We derived and validated a probabilistic maternal-child linkage algorithm using routinely collected EHR data elements that could benefit future observational research in maternal-child health.

为了促进母婴健康的临床研究,我们创建了一个概率母婴电子健康记录(EHR)联动算法。方法:利用1994 ~ 2024年的电子病历数据,建立XGBoost模型预测母婴联系。该模型使用标准的电子病历元素作为预测变量,包括名字、姓氏、出生日期、地址、电话号码、电子邮件,以及嵌入电子病历的母婴指标作为确定性结果。结果:从8200万条唯一记录中,有62亿个潜在的对符合阻断标准。在潜在对中,有33 364 674对含有确定性指标作为病例,并随机抽取相同数量的对照。最终模型的准确率为92%,精密度为98%,召回率为87%,f1得分为92%。结论:我们使用常规收集的电子病历数据元素推导并验证了一种概率母婴关联算法,该算法可用于未来的母婴健康观察研究。
{"title":"Derivation and validation of an algorithm for maternal-child linkage in electronic health records.","authors":"Colin M Rogerson, Christopher W Bartlett, John Price, Lang Li, Eneida A Mendonca, Shaun Grannis","doi":"10.1093/jamia/ocaf177","DOIUrl":"10.1093/jamia/ocaf177","url":null,"abstract":"<p><strong>Introduction: </strong>We created a probabilistic maternal-child electronic health record (EHR) linkage algorithm to promote clinical research in maternal-child health.</p><p><strong>Methods: </strong>We used EHR data from 1994 to 2024 to create an XGBoost model to predict maternal-child linkages. The model used standard EHR elements as predictor variables, including first name, last name, birthdate, address, phone number, email, and an EHR-embedded maternal-child indicator as the deterministic outcome.</p><p><strong>Results: </strong>From 82 million unique records, 6.2 billion potential pairs met blocking criteria. Of the potential pairs, 33 364 674 contained the deterministic indicator and were used as cases, and an equal number of controls were randomly sampled. The final model obtained an accuracy of 92%, a precision of 98%, a recall of 87%, and an F1-score of 92%.</p><p><strong>Conclusion: </strong>We derived and validated a probabilistic maternal-child linkage algorithm using routinely collected EHR data elements that could benefit future observational research in maternal-child health.</p>","PeriodicalId":50016,"journal":{"name":"Journal of the American Medical Informatics Association","volume":" ","pages":"451-456"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12844568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Journal of the American Medical Informatics Association
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1