{"title":"Enhancing the Functionalities of Personal Health Record Systems: Empirical Study Based on the HL7 Personal Health Record System Functional Model Release 1.","authors":"Teng Cao, Zhi Chen, Masaharu Nakayama","doi":"10.2196/56735","DOIUrl":"10.2196/56735","url":null,"abstract":"<p><strong>Background: </strong>The increasing demand for personal health record (PHR) systems is driven by individuals' desire to actively manage their health care. However, the limited functionality of current PHR systems has affected users' willingness to adopt them, leading to lower-than-expected usage rates. The HL7 (Health Level Seven) PHR System Functional Model (PHR-S FM) was proposed to address this issue, outlining all possible functionalities in PHR systems. Although the PHR-S FM provides a comprehensive theoretical framework, its practical effectiveness and applicability have not been fully explored.</p><p><strong>Objective: </strong>This study aimed to design and develop a tethered PHR prototype in accordance with the guidelines of the PHR-S FM. It sought to explore the feasibility of applying the PHR-S FM in PHR systems by comparing the prototype with the results of previous research.</p><p><strong>Methods: </strong>The PHR-S FM profile was defined to meet broad clinical data management requirements based on previous research. We designed and developed a PHR prototype as a web application using the Fast Healthcare Interoperability Resources R4 (FHIR) and Logical Observation Identifiers Names and Codes (LOINC) coding system for interoperability and data consistency. We validated the prototype using the Synthea dataset, which provided realistic synthetic medical records. In addition, we compared the results produced by the prototype with those of previous studies to evaluate the feasibility and implementation of the PHR-S FM framework.</p><p><strong>Results: </strong>The PHR prototype was developed based on the PHR-S FM profile. We verified its functionality by demonstrating its ability to synchronize data with the FHIR server, effectively managing and displaying various health data types. Validation using the Synthea dataset confirmed the prototype's accuracy, achieving 100% coverage across 1157 data items. A comparison with the findings of previous studies indicated the feasibility of implementing the PHR-S FM and highlighted areas for future research and improvements.</p><p><strong>Conclusions: </strong>The results of this study offer valuable insights into the potential for practical application and broad adoption of the PHR-S FM in real-world health care settings.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"12 ","pages":"e56735"},"PeriodicalIF":3.1,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11481820/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Use of SNOMED CT in Large Language Models: Scoping Review.","authors":"Eunsuk Chang, Sumi Sung","doi":"10.2196/62924","DOIUrl":"10.2196/62924","url":null,"abstract":"<p><strong>Background: </strong>Large language models (LLMs) have substantially advanced natural language processing (NLP) capabilities but often struggle with knowledge-driven tasks in specialized domains such as biomedicine. Integrating biomedical knowledge sources such as SNOMED CT into LLMs may enhance their performance on biomedical tasks. However, the methodologies and effectiveness of incorporating SNOMED CT into LLMs have not been systematically reviewed.</p><p><strong>Objective: </strong>This scoping review aims to examine how SNOMED CT is integrated into LLMs, focusing on (1) the types and components of LLMs being integrated with SNOMED CT, (2) which contents of SNOMED CT are being integrated, and (3) whether this integration improves LLM performance on NLP tasks.</p><p><strong>Methods: </strong>Following the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines, we searched ACM Digital Library, ACL Anthology, IEEE Xplore, PubMed, and Embase for relevant studies published from 2018 to 2023. Studies were included if they incorporated SNOMED CT into LLM pipelines for natural language understanding or generation tasks. Data on LLM types, SNOMED CT integration methods, end tasks, and performance metrics were extracted and synthesized.</p><p><strong>Results: </strong>The review included 37 studies. Bidirectional Encoder Representations from Transformers and its biomedical variants were the most commonly used LLMs. Three main approaches for integrating SNOMED CT were identified: (1) incorporating SNOMED CT into LLM inputs (28/37, 76%), primarily using concept descriptions to expand training corpora; (2) integrating SNOMED CT into additional fusion modules (5/37, 14%); and (3) using SNOMED CT as an external knowledge retriever during inference (5/37, 14%). The most frequent end task was medical concept normalization (15/37, 41%), followed by entity extraction or typing and classification. While most studies (17/19, 89%) reported performance improvements after SNOMED CT integration, only a small fraction (19/37, 51%) provided direct comparisons. The reported gains varied widely across different metrics and tasks, ranging from 0.87% to 131.66%. However, some studies showed either no improvement or a decline in certain performance metrics.</p><p><strong>Conclusions: </strong>This review demonstrates diverse approaches for integrating SNOMED CT into LLMs, with a focus on using concept descriptions to enhance biomedical language understanding and generation. While the results suggest potential benefits of SNOMED CT integration, the lack of standardized evaluation methods and comprehensive performance reporting hinders definitive conclusions about its effectiveness. Future research should prioritize consistent reporting of performance comparisons and explore more sophisticated methods for incorporating SNOMED CT's relational structure into LLMs. In addition, the biomedical NLP commun","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"12 ","pages":"e62924"},"PeriodicalIF":3.1,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11494256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142382572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comparative Study to Evaluate the Accuracy of Differential Diagnosis Lists Generated by Gemini Advanced, Gemini, and Bard for a Case Report Series Analysis: Cross-Sectional Study.","authors":"Takanobu Hirosawa, Yukinori Harada, Kazuki Tokumasu, Takahiro Ito, Tomoharu Suzuki, Taro Shimizu","doi":"10.2196/63010","DOIUrl":"10.2196/63010","url":null,"abstract":"<p><strong>Background: </strong>Generative artificial intelligence (GAI) systems by Google have recently been updated from Bard to Gemini and Gemini Advanced as of December 2023. Gemini is a basic, free-to-use model after a user's login, while Gemini Advanced operates on a more advanced model requiring a fee-based subscription. These systems have the potential to enhance medical diagnostics. However, the impact of these updates on comprehensive diagnostic accuracy remains unknown.</p><p><strong>Objective: </strong>This study aimed to compare the accuracy of the differential diagnosis lists generated by Gemini Advanced, Gemini, and Bard across comprehensive medical fields using case report series.</p><p><strong>Methods: </strong>We identified a case report series with relevant final diagnoses published in the American Journal Case Reports from January 2022 to March 2023. After excluding nondiagnostic cases and patients aged 10 years and younger, we included the remaining case reports. After refining the case parts as case descriptions, we input the same case descriptions into Gemini Advanced, Gemini, and Bard to generate the top 10 differential diagnosis lists. In total, 2 expert physicians independently evaluated whether the final diagnosis was included in the lists and its ranking. Any discrepancies were resolved by another expert physician. Bonferroni correction was applied to adjust the P values for the number of comparisons among 3 GAI systems, setting the corrected significance level at P value <.02.</p><p><strong>Results: </strong>In total, 392 case reports were included. The inclusion rates of the final diagnosis within the top 10 differential diagnosis lists were 73% (286/392) for Gemini Advanced, 76.5% (300/392) for Gemini, and 68.6% (269/392) for Bard. The top diagnoses matched the final diagnoses in 31.6% (124/392) for Gemini Advanced, 42.6% (167/392) for Gemini, and 31.4% (123/392) for Bard. Gemini demonstrated higher diagnostic accuracy than Bard both within the top 10 differential diagnosis lists (P=.02) and as the top diagnosis (P=.001). In addition, Gemini Advanced achieved significantly lower accuracy than Gemini in identifying the most probable diagnosis (P=.002).</p><p><strong>Conclusions: </strong>The results of this study suggest that Gemini outperformed Bard in diagnostic accuracy following the model update. However, Gemini Advanced requires further refinement to optimize its performance for future artificial intelligence-enhanced diagnostics. These findings should be interpreted cautiously and considered primarily for research purposes, as these GAI systems have not been adjusted for medical diagnostics nor approved for clinical use.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"12 ","pages":"e63010"},"PeriodicalIF":3.1,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11483254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142367689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sarah Conderino, Rebecca Anthopolos, Sandra S Albrecht, Shannon M Farley, Jasmin Divers, Andrea R Titus, Lorna E Thorpe
{"title":"Addressing Information Biases Within Electronic Health Record Data to Improve the Examination of Epidemiologic Associations With Diabetes Prevalence Among Young Adults: Cross-Sectional Study.","authors":"Sarah Conderino, Rebecca Anthopolos, Sandra S Albrecht, Shannon M Farley, Jasmin Divers, Andrea R Titus, Lorna E Thorpe","doi":"10.2196/58085","DOIUrl":"10.2196/58085","url":null,"abstract":"<p><strong>Background: </strong>Electronic health records (EHRs) are increasingly used for epidemiologic research to advance public health practice. However, key variables are susceptible to missing data or misclassification within EHRs, including demographic information or disease status, which could affect the estimation of disease prevalence or risk factor associations.</p><p><strong>Objective: </strong>In this paper, we applied methods from the literature on missing data and causal inference to assess whether we could mitigate information biases when estimating measures of association between potential risk factors and diabetes among a patient population of New York City young adults.</p><p><strong>Methods: </strong>We estimated the odds ratio (OR) for diabetes by race or ethnicity and asthma status using EHR data from NYU Langone Health. Methods from the missing data and causal inference literature were then applied to assess the ability to control for misclassification of health outcomes in the EHR data. We compared EHR-based associations with associations observed from 2 national health surveys, the Behavioral Risk Factor Surveillance System (BRFSS) and the National Health and Nutrition Examination Survey, representing traditional public health surveillance systems.</p><p><strong>Results: </strong>Observed EHR-based associations between race or ethnicity and diabetes were comparable to health survey-based estimates, but the association between asthma and diabetes was significantly overestimated (OREHR 3.01, 95% CI 2.86-3.18 vs ORBRFSS 1.23, 95% CI 1.09-1.40). Missing data and causal inference methods reduced information biases in these estimates, yielding relative differences from traditional estimates below 50% (ORMissingData 1.79, 95% CI 1.67-1.92 and ORCausal 1.42, 95% CI 1.34-1.51).</p><p><strong>Conclusions: </strong>Findings suggest that without bias adjustment, EHR analyses may yield biased measures of association, driven in part by subgroup differences in health care use. However, applying missing data or causal inference frameworks can help control for and, importantly, characterize residual information biases in these estimates.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"12 ","pages":"e58085"},"PeriodicalIF":3.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11460830/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142367688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Disambiguating Clinical Abbreviations by One-to-All Classification: Algorithm Development and Validation Study.","authors":"Sheng-Feng Sung, Ya-Han Hu, Chong-Yan Chen","doi":"10.2196/56955","DOIUrl":"10.2196/56955","url":null,"abstract":"<p><strong>Background: </strong>Electronic medical records store extensive patient data and serve as a comprehensive repository, including textual medical records like surgical and imaging reports. Their utility in clinical decision support systems is substantial, but the widespread use of ambiguous and unstandardized abbreviations in clinical documents poses challenges for natural language processing in clinical decision support systems. Efficient abbreviation disambiguation methods are needed for effective information extraction.</p><p><strong>Objective: </strong>This study aims to enhance the one-to-all (OTA) framework for clinical abbreviation expansion, which uses a single model to predict multiple abbreviation meanings. The objective is to improve OTA by developing context-candidate pairs and optimizing word embeddings in Bidirectional Encoder Representations From Transformers (BERT), evaluating the model's efficacy in expanding clinical abbreviations using real data.</p><p><strong>Methods: </strong>Three datasets were used: Medical Subject Headings Word Sense Disambiguation, University of Minnesota, and Chia-Yi Christian Hospital from Ditmanson Medical Foundation Chia-Yi Christian Hospital. Texts containing polysemous abbreviations were preprocessed and formatted for BERT. The study involved fine-tuning pretrained models, ClinicalBERT and BlueBERT, generating dataset pairs for training and testing based on Huang et al's method.</p><p><strong>Results: </strong>BlueBERT achieved macro- and microaccuracies of 95.41% and 95.16%, respectively, on the Medical Subject Headings Word Sense Disambiguation dataset. It improved macroaccuracy by 0.54%-1.53% compared to two baselines, long short-term memory and deepBioWSD with random embedding. On the University of Minnesota dataset, BlueBERT recorded macro- and microaccuracies of 98.40% and 98.22%, respectively. Against the baselines of Word2Vec + support vector machine and BioWordVec + support vector machine, BlueBERT demonstrated a macroaccuracy improvement of 2.61%-4.13%.</p><p><strong>Conclusions: </strong>This research preliminarily validated the effectiveness of the OTA method for abbreviation disambiguation in medical texts, demonstrating the potential to enhance both clinical staff efficiency and research effectiveness.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"12 ","pages":"e56955"},"PeriodicalIF":3.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11460304/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jay G Ronquillo, Jamie Ye, Donal Gorman, Adina R Lemeshow, Stephen J Watt
{"title":"Practical Aspects of Using Large Language Models to Screen Abstracts for Cardiovascular Drug Development: Cross-Sectional Study.","authors":"Jay G Ronquillo, Jamie Ye, Donal Gorman, Adina R Lemeshow, Stephen J Watt","doi":"10.2196/64143","DOIUrl":"10.2196/64143","url":null,"abstract":"<p><strong>Unlabelled: </strong>Cardiovascular drug development requires synthesizing relevant literature about indications, mechanisms, biomarkers, and outcomes. This short study investigates the performance, cost, and prompt engineering trade-offs of 3 large language models accelerating the literature screening process for cardiovascular drug development applications.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"12 ","pages":"e64143"},"PeriodicalIF":3.1,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11469161/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142376312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Toward Better Semantic Interoperability of Data Element Repositories in Medicine: Analysis Study.","authors":"Zhengyong Hu, Anran Wang, Yifan Duan, Jiayin Zhou, Wanfei Hu, Sizhu Wu","doi":"10.2196/60293","DOIUrl":"10.2196/60293","url":null,"abstract":"<p><strong>Background: </strong>Data element repositories facilitate high-quality medical data sharing by standardizing data and enhancing semantic interoperability. However, the application of repositories is confined to specific projects and institutions.</p><p><strong>Objective: </strong>This study aims to explore potential issues and promote broader application of data element repositories within the medical field by evaluating and analyzing typical repositories.</p><p><strong>Methods: </strong>Following the inclusion of 5 data element repositories through a literature review, a novel analysis framework consisting of 7 dimensions and 36 secondary indicators was constructed and used for evaluation and analysis.</p><p><strong>Results: </strong>The study's results delineate the unique characteristics of different repositories and uncover specific issues in their construction. These issues include the absence of data reuse protocols and insufficient information regarding the application scenarios and efficacy of data elements. The repositories fully comply with only 45% (9/20) of the subprinciples for Findable and Reusable in the FAIR principle, while achieving a 90% (19/20 subprinciples) compliance rate for Accessible and 67% (10/15 subprinciples) for Interoperable.</p><p><strong>Conclusions: </strong>The recommendations proposed in this study address the issues to improve the construction and application of repositories, offering valuable insights to data managers, computer experts, and other pertinent stakeholders.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"12 ","pages":"e60293"},"PeriodicalIF":3.1,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11474123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Implementation of the Observational Medical Outcomes Partnership Model in Electronic Medical Record Systems: Evaluation Study Using Factor Analysis and Decision-Making Trial and Evaluation Laboratory-Best-Worst Methods.","authors":"Ming Luo, Yu Gu, Feilong Zhou, Shaohong Chen","doi":"10.2196/58498","DOIUrl":"10.2196/58498","url":null,"abstract":"<p><strong>Background: </strong>Electronic medical record (EMR) systems are essential in health care for collecting and storing patient medical data. They provide critical information to doctors and caregivers, facilitating improved decision-making and patient care. Despite their significance, optimizing EMR systems is crucial for enhancing health care quality. Implementing the Observational Medical Outcomes Partnership (OMOP) shared data model represents a promising approach to improve EMR performance and overall health care outcomes.</p><p><strong>Objective: </strong>This study aims to evaluate the effects of implementing the OMOP shared data model in EMR systems and to assess its impact on enhancing health care quality.</p><p><strong>Methods: </strong>In this study, 3 distinct methodologies are used to explore various aspects of health care information systems. First, factor analysis is utilized to investigate the correlations between EMR systems and attitudes toward OMOP. Second, the best-worst method (BWM) is applied to determine the weights of criteria and subcriteria. Lastly, the decision-making trial and evaluation laboratory technique is used to illustrate the interactions and interdependencies among the identified criteria.</p><p><strong>Results: </strong>In this research, we evaluated the AliHealth EMR system by surveying 98 users and practitioners to assess its effectiveness and user satisfaction. The study reveals that among all components, \"EMR resolution\" holds the highest importance with a weight of 0.31007783, highlighting its significant role in the evaluation. Conversely, \"EMR ease of use\" has the lowest weight of 0.1860467, indicating that stakeholders prioritize the resolution aspect over ease of use in their assessment of EMR systems.</p><p><strong>Conclusions: </strong>The findings highlight that stakeholders prioritize certain aspects of EMR systems, with \"EMR resolution\" being the most valued component.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"12 ","pages":"e58498"},"PeriodicalIF":3.1,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11470222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Arindam Brahma, Samir Chatterjee, Kala Seal, Ben Fitzpatrick, Youyou Tao
{"title":"Development of a Cohort Analytics Tool for Monitoring Progression Patterns in Cardiovascular Diseases: Advanced Stochastic Modeling Approach.","authors":"Arindam Brahma, Samir Chatterjee, Kala Seal, Ben Fitzpatrick, Youyou Tao","doi":"10.2196/59392","DOIUrl":"10.2196/59392","url":null,"abstract":"<p><strong>Background: </strong>The World Health Organization (WHO) reported that cardiovascular diseases (CVDs) are the leading cause of death worldwide. CVDs are chronic, with complex progression patterns involving episodes of comorbidities and multimorbidities. When dealing with chronic diseases, physicians often adopt a \"watchful waiting\" strategy, and actions are postponed until information is available. Population-level transition probabilities and progression patterns can be revealed by applying time-variant stochastic modeling methods to longitudinal patient data from cohort studies. Inputs from CVD practitioners indicate that tools to generate and visualize cohort transition patterns have many impactful clinical applications. The resultant computational model can be embedded in digital decision support tools for clinicians. However, to date, no study has attempted to accomplish this for CVDs.</p><p><strong>Objective: </strong>This study aims to apply advanced stochastic modeling methods to uncover the transition probabilities and progression patterns from longitudinal episodic data of patient cohorts with CVD and thereafter use the computational model to build a digital clinical cohort analytics artifact demonstrating the actionability of such models.</p><p><strong>Methods: </strong>Our data were sourced from 9 epidemiological cohort studies by the National Heart Lung and Blood Institute and comprised chronological records of 1274 patients associated with 4839 CVD episodes across 16 years. We then used the continuous-time Markov chain method to develop our model, which offers a robust approach to time-variant transitions between disease states in chronic diseases.</p><p><strong>Results: </strong>Our study presents time-variant transition probabilities of CVD state changes, revealing patterns of CVD progression against time. We found that the transition from myocardial infarction (MI) to stroke has the fastest transition rate (mean transition time 3, SD 0 days, because only 1 patient had a MI-to-stroke transition in the dataset), and the transition from MI to angina is the slowest (mean transition time 1457, SD 1449 days). Congestive heart failure is the most probable first episode (371/840, 44.2%), followed by stroke (216/840, 25.7%). The resultant artifact is actionable as it can act as an eHealth cohort analytics tool, helping physicians gain insights into treatment and intervention strategies. Through expert panel interviews and surveys, we found 9 application use cases of our model.</p><p><strong>Conclusions: </strong>Past research does not provide actionable cohort-level decision support tools based on a comprehensive, 10-state, continuous-time Markov chain model to unveil complex CVD progression patterns from real-world patient data and support clinical decision-making. This paper aims to address this crucial limitation. Our stochastic model-embedded artifact can help clinicians in efficient disease monitoring and intervention deci","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"12 ","pages":"e59392"},"PeriodicalIF":3.1,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462104/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142309223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Parinaz Tabari, Gennaro Costagliola, Mattia De Rosa, Martin Boeker
{"title":"State-of-the-Art Fast Healthcare Interoperability Resources (FHIR)-Based Data Model and Structure Implementations: Systematic Scoping Review.","authors":"Parinaz Tabari, Gennaro Costagliola, Mattia De Rosa, Martin Boeker","doi":"10.2196/58445","DOIUrl":"10.2196/58445","url":null,"abstract":"<p><strong>Background: </strong>Data models are crucial for clinical research as they enable researchers to fully use the vast amount of clinical data stored in medical systems. Standardized data and well-defined relationships between data points are necessary to guarantee semantic interoperability. Using the Fast Healthcare Interoperability Resources (FHIR) standard for clinical data representation would be a practical methodology to enhance and accelerate interoperability and data availability for research.</p><p><strong>Objective: </strong>This research aims to provide a comprehensive overview of the state-of-the-art and current landscape in FHIR-based data models and structures. In addition, we intend to identify and discuss the tools, resources, limitations, and other critical aspects mentioned in the selected research papers.</p><p><strong>Methods: </strong>To ensure the extraction of reliable results, we followed the instructions of the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) checklist. We analyzed the indexed articles in PubMed, Scopus, Web of Science, IEEE Xplore, the ACM Digital Library, and Google Scholar. After identifying, extracting, and assessing the quality and relevance of the articles, we synthesized the extracted data to identify common patterns, themes, and variations in the use of FHIR-based data models and structures across different studies.</p><p><strong>Results: </strong>On the basis of the reviewed articles, we could identify 2 main themes: dynamic (pipeline-based) and static data models. The articles were also categorized into health care use cases, including chronic diseases, COVID-19 and infectious diseases, cancer research, acute or intensive care, random and general medical notes, and other conditions. Furthermore, we summarized the important or common tools and approaches of the selected papers. These items included FHIR-based tools and frameworks, machine learning approaches, and data storage and security. The most common resource was \"Observation\" followed by \"Condition\" and \"Patient.\" The limitations and challenges of developing data models were categorized based on the issues of data integration, interoperability, standardization, performance, and scalability or generalizability.</p><p><strong>Conclusions: </strong>FHIR serves as a highly promising interoperability standard for developing real-world health care apps. The implementation of FHIR modeling for electronic health record data facilitates the integration, transmission, and analysis of data while also advancing translational research and phenotyping. Generally, FHIR-based exports of local data repositories improve data interoperability for systems and data warehouses across different settings. However, ongoing efforts to address existing limitations and challenges are essential for the successful implementation and integration of FHIR data models.</p>","PeriodicalId":56334,"journal":{"name":"JMIR Medical Informatics","volume":"12 ","pages":"e58445"},"PeriodicalIF":3.1,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11472501/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142309224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}