Journal of the American Medical Informatics Association最新文献

Objectives: Trafficked persons experience adverse health consequences and seek help, but many go unrecognized by health-care professionals. This study explored professionals' perspectives on current approaches toward identifying and supporting trafficked persons in health-care settings, highlighting current technology roles, gaps, and future directions.

Materials and methods: We developed an interview guide to investigate current human trafficking (HT) approaches, safety procedures, and HT education. Semistructured interviews were conducted via Zoom, iteratively coded in Dedoose, and analyzed using a thematic analysis approach.

Results: We interviewed 19 health-care and community group professionals and identified 3 themes: (1) participants described a responsibility to build trust with patients through compassionate communication, rapport, and trauma-informed approaches across different stages of care. (2) Technology played a dual role, as professionals navigated both benefits and challenges of tools such as Zoom, virtual interpreters, and cameras in trust building. (3) Safety and privacy concerns guided how participants documented patient encounters and shared community resources, ensuring confidentiality while supporting patient and community well-being.

Discussion: Technology can both support and hinder trust in health care, directly affecting trafficked patients and their safety. Informatics can improve care for trafficked persons, but further research is needed on technology-based interventions. We provide recommendations to strengthen trust, enhance safety, support trauma-informed care, and promote safe documentation practices.

Conclusion: Effective sociotechnical approaches rely on trust, safety, and mindful documentation to support trafficked patients. Future research directions include refining the role of informatics in trauma-informed care to strengthen trust and mitigate unintended consequences.

Objective: Population health management programs coordinate care for over 80 million Medicaid beneficiaries but lack systematic clinical decision support for determining when to intervene and which interventions to select for patients with complex conditions. Our objective was to develop and validate a clinical decision support system integrating acuity prediction and intervention selection models for population health management programs.

Materials and methods: We conducted a retrospective cohort study of 155 631 Medicaid patients enrolled in population health programs across Washington, Virginia, and Ohio (January 2023-July 2025). We developed integrated informatics workflows combining time-to-event prediction models for acute care events with heterogeneous treatment effect estimators for intervention selection. Models used structured electronic health record data, claims, and care management records. Performance was evaluated through clinical validation with 3 blinded physicians reviewing 200 cases.

Results: The integrated decision support system achieved 81.3% sensitivity (95% CI, 79.8%-82.8%) and 82.1% specificity (95% CI, 80.6%-83.6%) for 30-day acute care prediction. The intervention selection component demonstrated 1.59 percentage points absolute risk reduction compared with standard care (95% CI, 0.21-3.04), translating to preventing one acute event for every 63 patients receiving model-guided rather than standard care. Clinical validation revealed systematic differences: physicians relied on recent utilization patterns (explaining 75.8% of decision variance) while models integrated broader clinical signals, identifying intervention opportunities earlier in disease trajectories. Both approaches recommended similar intervention types, suggesting complementary rather than replacement roles.

Discussion: An integrated clinical decision support system can enhance population health management by providing actionable guidance on intervention timing and selection.

Conclusion: An integrated decision support system's ability to identify opportunities before high utilization manifests offers potential for shifting from reactive to preventive care delivery for vulnerable populations.

Objectives: To develop and evaluate a knowledge graph-augmented large language model (LLM) framework that synthesizes epidemiological evidence to infer life-course exposure-outcome pathways, using gestational diabetes mellitus (GDM) and dementia as a case study.

Materials and methods: We constructed a causal knowledge graph by extracting empirical epidemiological associations from scientific literature, excluding hypothetical assertions. The graph was integrated with GPT-4 through four graph retrieval-augmented generation (GRAG) strategies to infer bridging variables between early-life exposure (GDM) and later-life outcome (dementia). Semantic triples served as structured inputs to support LLM reasoning. Each GRAG strategy was evaluated by human clinical experts and three LLM-based reviewers (GPT-4o, Llama 3-70B, and Gemini Advanced), assessing scientific reliability, novelty, and clinical relevance.

Results: The GRAG strategy using a minimal set of abstracts specifically related to GDM-dementia bridging variables performed comparably to the strategy using broader sub-community abstracts, and both significantly outperformed approaches using the full GDM- or dementia-related corpus or baseline GPT-4 without external augmentation. The knowledge graph-augmented LLM identified 108 maternal candidate mediators, including validated risk factors such as chronic kidney disease and physical inactivity. The structured approach improved accuracy and reduced confabulation compared to standard LLM outputs.

Discussion: Our findings suggest that augmenting LLMs with epidemiological knowledge graphs enables effective reasoning over fragmented literature and supports the reconstruction of progressive risk pathways. Expert assessments revealed that LLMs may overestimate clinical relevance, highlighting the need for human-AI collaboration in interpretation and application.

Conclusion: Integrating semantic epidemiological knowledge with LLMs via GRAG strategies provides a promising framework for life-course epidemiology, enabling early detection of modifiable risk factors and guiding variable selection in cohort study design.

Objectives: Documentation of gender identity (GI) and anatomy data in the electronic health record (EHR) is a proposed standard of care for transgender populations. However, there is limited research on implementation of proposed best practices, particularly anatomy data collection. This study aims to characterize factors that influence patient preferences and comfort around the collection and documentation of GI and anatomy in EHRs.

Materials and methods: From November 2023 to January 2024, 17 one-on-one, semi-structured virtual interviews were conducted with transgender adults residing in the Metropolitan New York area. Transcriptions were analyzed using inductive thematic analysis.

Results: Themes clustered around comfort and preferences for data collection processes and outcomes. Factors that influenced preferences and comfort around anatomy data were distinct from those impacting GI documentation preferences and comfort. The tension between the categories of GI and sex assigned at birth impacted anatomy data documentation preferences. Clinical context emerged as a consistent factor that impacts both preferences and comfort of GI and anatomy data documentation.

Discussion and conclusion: GI data collection efforts in clinical settings must consider the implication of anatomy data collection when determining data collection best practice methodologies. Anticipated and experienced stigma remain significant hurdles to patient comfort and willingness to collect GI and anatomy data, and their impact on actual data collection should be further elucidated among diverse gender identities. Clinical data collection methods, tools, and education warrant ongoing research investment to further elucidate best practices.

Objectives: Real-world evidence (RWE) increasingly informs clinical decisions, yet manual adjustment for confounding limits scalability. Data-adaptive (DA) algorithms for high-dimensional proxy adjustment show promise but have not been systematically compared to investigator-specified (IS) approaches across diverse treatment scenarios. We evaluated whether DA strategies perform comparably to manually curated IS models using claims-based emulations of 15 randomized trials from the RCT-DUPLICATE initiative.

Materials and methods: We identified new-user cohorts for 15 trial emulations in Optum's de-identified Clinformatics Data Mart Database (2004-2023). Treatment effects were estimated using 3 adjustment strategies: (1) IS models with manually tailored covariates; (2) full-DA strategies using empirical features from semiautomated pipelines; and (3) hybrid-DA models incorporating both empirical and investigator-defined covariates. Agreement with RCT benchmarks was assessed via binary metrics and difference-in-differences.

Results: Outcome-adaptive LASSO achieved better RWE-RCT agreement than IS adjustment in 73% of full-DA and 87% of hybrid-DA emulations. Other DA methods considering feature associations with both treatment and outcome performed similarly well, while models tuned solely for treatment prediction performed poorly. Performance of IS vs DA strategies differed across emulated trials.

Discussion: Top DA algorithms matched manual IS models on average, but impact varied by emulation. Case studies illustrate the continued importance of subject-matter knowledge, particularly for complex treatment strategies.

Conclusion: Data-adaptive algorithms show promise for scalable confounding adjustment in large-scale evidence systems and as augmentation tools for investigator-specified designs. Hybrid strategies combining algorithmic methods with investigator expertise offer the most reliable approach for individual causal questions.

Introduction: Automation of clinical orders in electronic health records (EHRs) has the potential to reduce clinician burden and enhance patient safety. However, determining which orders are appropriate for automation requires a structured framework to ensure clinical validity, transparency, and safety.

Objective: To develop and validate a framework of desiderata for assessing the appropriateness of automating clinical orders in EHRs and to demonstrate its operational value in a live health system dataset.

Materials and methods: The study comprised 4 phases to move from concept generation to real-world demonstration. First, we conducted focus group analyses using ground theory to identify themes and developed desiderata informed by these themes and existing literature. We validated the desiderata by surveying clinicians at a single institution, presenting 10 use cases to and assessing perceived appropriateness, cognitive support, and patient safety using a 4-point Likert scale. Survey results were compared to a priori appropriateness designations using t-tests. To evaluate operational impact, we analyzed one year of order-based alerts and orders (1.4 million firings alert and 44.1 million orders, respectively) using filtering rules and association rule mining to identify candidate orders for automation and their impact.

Results: We identified 8 desiderata for automated order appropriateness: logical consistency, data provenance, order transparency, context permanence, monitoring plans, trigger consistency, care team empowerment, and system accountability. Use cases deemed appropriate based on these criteria received significantly higher scores for appropriateness (3.13 ± 0.84 vs 2.30 ± 0.99), cognitive support (3.08 ± 0.82 vs 2.25 ± 0.94), and patient safety (3.08 ± 0.86 vs 2.21 ± 0.98) (all P < .001) compared to those considered inappropriate. Operational analysis revealed an alert firing 19 109 times annually, with a 96% signed order rate, where automation could save an estimated 26.5 provider hours per year. Additionally, an association rule with 16 628 occurrences (68.4% confidence) suggested automation could save 15.8 hours annually and yield 8000 additional appropriate orders.

Discussion: The desiderata align with clinician perceptions and provide a structured approach for evaluating automated orders. Our findings highlight the potential for automation of certain clinical orders to improve cognitive support while maintaining patient safety.

Conclusion: Healthcare systems should use these desiderata, coupled with data mining techniques, to systematically identify and govern appropriate automated orders. Further research is needed to validate operational scalability.

Objectives: Externalizing behaviors in children, such as aggression, hyperactivity, and defiance, are influenced by complex interplays between genetic predispositions and environmental factors, particularly parental behaviors. Unraveling these intricate causal relationships can benefit from the use of robust data-driven methods.

Materials and methods: We developed "Hillclimb-Causal Inference," a causal discovery approach that integrates the Hill Climb Search algorithm with a customized Linear Gaussian Bayesian Information Criterion (BIC). This method was applied to data from the Adolescent Brain Cognitive Development (ABCD) Study, which included parental behavior assessments, children's genotypes, and externalizing behavior measures. We performed dimensionality reduction to address multicollinearity among parental behaviors and assessed children's genetic risk for externalizing disorders using polygenic risk scores (PRS), which were computed based on GWAS summary statistics from independent cohorts. Once the causal pathways were identified, we employed structural equation modeling (SEM) to quantify the relationships within the model.

Results: We identified prominent causal pathways linking parental behaviors to children's externalizing outcomes. Parental alcohol misuse and broader behavioral issues exhibited notably stronger direct effects (0.33 and 0.20, respectively) compared to children's PRS (0.07). Moreover, when considering both direct and indirect paths, parental substance misuse (alcohol, drugs, and tobacco) collectively resulted in a total effect exceeding 1.1 on externalizing behaviors. Bootstrap and sensitivity analyses further validated the robustness of these findings.

Discussion and conclusion: Parental behaviors exert larger effects on children's externalizing outcomes than genetic risk, suggesting potential targets for prevention and intervention. The Hillclimb-Causal framework provides a general, data-driven way to map causal pathways in developmental psychiatry and related domains.

Objectives: Longitudinal data in electronic health records (EHRs) represent an individual's clinical history through a sequence of codified concepts, including diagnoses, procedures, medications, and laboratory tests. Generative pretrained transformers (GPT) can leverage this data to predict future events. While fine-tuning of these models can enhance task-specific performance, it becomes costly when applied to many clinical prediction tasks. In contrast, a pretrained foundation model can be used in zero-shot forecasting setting, offering a scalable alternative to fine-tuning separate models for each outcome.

Materials and methods: This study presents the first comprehensive analysis of zero-shot forecasting with GPT-based foundational models in EHRs, introducing a novel pipeline that formulates medical concept prediction as a generative modeling task. Unlike supervised approaches requiring extensive labeled data, our method enables the model to forecast the next medical event purely from a pretraining knowledge. We evaluate performance across multiple time horizons and clinical categories, demonstrating model's ability to capture latent temporal dependencies and complex patient trajectories without task supervision.

Results: The model's performance in predicting the next medical concept was evaluated using precision and recall metrics, achieving an average top-1 precision of 0.614 and recall of 0.524. For 12 major diagnostic conditions, the model demonstrated strong zero-shot performance, achieving high true positive rates while maintaining low false positives.

Discussion: We demonstrate the power of a foundational EHR GPT model in capturing diverse phenotypes and enabling robust, zero-shot forecasting of clinical outcomes. This capability highlights both its versatility across conditions like liver cancer and SLE, and its limitations in more ambiguous settings such as depression, while also revealing meaningful latent clinical structure.

Conclusion: This capability enhances the versatility of predictive healthcare models and reduces the need for task-specific training, enabling more scalable applications in clinical settings.