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Global Health Informatics (GHI) as a branch of health informatics has been established for 2 decades now. During that time, great strides have been made in the creation and implementation of informatics tools to improve healthcare delivery and outcomes in the most vulnerable and remote communities worldwide. In many of the most successful projects, innovation has been shared between teams in high- and low- or middle-income countries (LMICs). In this perspective, we review the state of the academic field of GHI and the work published in JAMIA in the last 6 1/2 years. We apply criteria for articles about LMICs, those on international health, and on indigenous and refugee population, and subtypes of research. For comparison, we apply those criteria to JAMIA Open and 3 other health informatics journals which publish articles on GHI. We make recommendations for future directions and the role that journals like JAMIA can play in strengthening this work worldwide.
BACKGROUND: Detailed, comprehensive, and timely reporting on population health by underlying causes of disability and premature death is crucial to understanding and responding to complex patterns of disease and injury burden over time and across age groups, sexes, and locations. The availability of disease burden estimates can promote evidence-based interventions that enable public health researchers, policy makers, and other professionals to implement strategies that can mitigate diseases. It can also facilitate more rigorous monitoring of progress towards national and international health targets, such as the Sustainable Development Goals. For three decades, the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) has filled that need. A global network of collaborators contributed to the production of GBD 2021 by providing, reviewing, and analysing all available data. GBD estimates are updated routinely with additional data and refined analytical methods. GBD 2021 presents, for the first time, estimates of health loss due to the COVID-19 pandemic. METHODS: The GBD 2021 disease and injury burden analysis estimated years lived with disability (YLDs), years of life lost (YLLs), disability-adjusted life-years (DALYs), and healthy life expectancy (HALE) for 371 diseases and injuries using 100 983 data sources. Data were extracted from vital registration systems, verbal autopsies, censuses, household surveys, disease-specific registries, health service contact data, and other sources. YLDs were calculated by multiplying cause-age-sex-location-year-specific prevalence of sequelae by their respective disability weights, for each disease and injury. YLLs were calculated by multiplying cause-age-sex-location-year-specific deaths by the standard life expectancy at the age that death occurred. DALYs were calculated by summing YLDs and YLLs. HALE estimates were produced using YLDs per capita and age-specific mortality rates by location, age, sex, year, and cause. 95% uncertainty intervals (UIs) were generated for all final estimates as the 2·5th and 97·5th percentiles values of 500 draws. Uncertainty was propagated at each step of the estimation process. Counts and age-standardised rates were calculated globally, for seven super-regions, 21 regions, 204 countries and territories (including 21 countries with subnational locations), and 811 subnational locations, from 1990 to 2021. Here we report data for 2010 to 2021 to highlight trends in disease burden over the past decade and through the first 2 years of the COVID-19 pandemic. FINDINGS: Global DALYs increased from 2·63 billion (95% UI 2·44-2·85) in 2010 to 2·88 billion (2·64-3·15) in 2021 for all causes combined. Much of this increase in the number of DALYs was due to population growth and ageing, as indicated by a decrease in global age-standardised all-cause DALY rates of 14·2% (95% UI 10·7-17·3) between 2010 and 2019. Notably, however, this decrease in rates reversed during the first 2 years of the COVID-19 pandemic, with increases in global age-standardised all-cause DALY rates since 2019 of 4·1% (1·8-6·3) in 2020 and 7·2% (4·7-10·0) in 2021. In 2021, COVID-19 was the leading cause of DALYs globally (212·0 million [198·0-234·5] DALYs), followed by ischaemic heart disease (188·3 million [176·7-198·3]), neonatal disorders (186·3 million [162·3-214·9]), and stroke (160·4 million [148·0-171·7]). However, notable health gains were seen among other leading communicable, maternal, neonatal, and nutritional (CMNN) diseases. Globally between 2010 and 2021, the age-standardised DALY rates for HIV/AIDS decreased by 47·8% (43·3-51·7) and for diarrhoeal diseases decreased by 47·0% (39·9-52·9). Non-communicable diseases contributed 1·73 billion (95% UI 1·54-1·94) DALYs in 2021, with a decrease in age-standardised DALY rates since 2010 of 6·4% (95% UI 3·5-9·5). Between 2010 and 2021, among the 25 leading Level 3 causes, age-standardised DALY rates increased most substantially for anxiety disorders (16·7% [14·0-19·8]), depressive disorders (16·4% [11·9-21·3]), and diabetes (14·0% [10·0-17·4]). Age-standardised DALY rates due to injuries decreased globally by 24·0% (20·7-27·2) between 2010 and 2021, although improvements were not uniform across locations, ages, and sexes. Globally, HALE at birth improved slightly, from 61·3 years (58·6-63·6) in 2010 to 62·2 years (59·4-64·7) in 2021. However, despite this overall increase, HALE decreased by 2·2% (1·6-2·9) between 2019 and 2021. INTERPRETATION: Putting the COVID-19 pandemic in the context of a mutually exclusive and collectively exhaustive list of causes of health loss is crucial to understanding its impact and ensuring that health funding and policy address needs at both local and global levels through cost-effective and evidence-based interventions. A global epidemiological transition remains underway. Our findings suggest that prioritising non-communicable disease prevention and treatment policies, as well as strengthening health systems, continues to be crucially important. The progress on reducing the burden of CMNN diseases must not stall; although global trends are improving, the burden of CMNN diseases remains unacceptably high. Evidence-based interventions will help save the lives of young children and mothers and improve the overall health and economic conditions of societies across the world. Governments and multilateral organisations should prioritise pandemic preparedness planning alongside efforts to reduce the burden of diseases and injuries that will strain resources in the coming decades. FUNDING: Bill & Melinda Gates Foundation.
An easy to use implementation of routine structural missing data diagnostics with functions to visualize the proportions of missing observations, investigate missing data patterns and conduct various empirical missing data diagnostic tests. Reference: Weberpals J, Raman SR, Shaw PA, Lee H, Hammill BG, Toh S, Connolly JG, Dandreo KJ, Tian F, Liu W, Li J, Hernández-Muñoz JJ, Glynn RJ, Desai RJ. smdi: an R package to perform structural missing data investigations on partially observed confounders in real-world evidence studies. JAMIA Open. 2024 Jan 31;7(1):ooae008. <<a href="https://doi.org/10.1093%2Fjamiaopen%2Fooae008" target="_top">doi:10.1093/jamiaopen/ooae008</a>>.
Importance: Thirteen human malignant neoplasms have been identified as obesity-associated cancers (OACs), ie, the presence of excess body fat is associated with increased risk of developing cancer and worse prognosis in patients with these specific tumors. The glucagon-like peptide receptor agonist (GLP-1RA) class of pharmaceuticals are effective agents for the treatment of type 2 diabetes (T2D) and for achieving weight loss, but the association of GLP-1RAs with the incident risk of 13 OACs is unclear. Objective: To compare the incident risk of each of the 13 OACs in patients with T2D who were prescribed GLP-1RAs vs insulins or metformin. Design, Setting, and Participants: This retrospective cohort study was based on a nationwide multicenter database of electronic health records (EHRs) of 113 million US patients. The study population included 1 651 452 patients with T2D who had no prior diagnosis of OACs and were prescribed GLP-1RAs, insulins, or metformin during March 2005 to November 2018. Data analysis was conducted on April 26, 2024. Exposures: Prescription of GLP-1RAs, insulins, or metformin. Main Outcomes and Measures: Incident (first-time) diagnosis of each of the 13 OACs occurring during a 15-year follow-up after the exposure was examined using Cox proportional hazard and Kaplan-Meier survival analyses with censoring applied. Hazard ratios (HRs), cumulative incidences, and 95% CIs were calculated. All models were adjusted for confounders at baseline by propensity-score matching baseline covariates. Results: In the study population of 1 651 452 patients with T2D (mean [SD] age, 59.8 [15.1] years; 827 873 [50.1%] male and 775 687 [47.0%] female participants; 5780 [0.4%] American Indian or Alaska Native, 65 893 [4.0%] Asian, 281 242 [17.0%] Black, 13 707 [0.8%] Native Hawaiian or Other Pacific Islander, and 1 000 780 [60.6%] White participants), GLP-1RAs compared with insulin were associated with a significant risk reduction in 10 of 13 OACs, including in gallbladder cancer (HR, 0.35; 95% CI, 0.15-0.83), meningioma (HR, 0.37; 95% CI, 0.18-0.74), pancreatic cancer (HR, 0.41; 95% CI, 0.33-0.50), hepatocellular carcinoma (HR, 0.47; 95% CI, 0.36-0.61), ovarian cancer (HR, 0.52; 95% CI, 0.03-0.74), colorectal cancer (HR, 0.54; 95% CI, 0.46-0.64), multiple myeloma (HR, 0.59; 95% CI, 0.44-0.77), esophageal cancer (HR, 0.60; 95% CI, 0.42-0.86), endometrial cancer (HR, 0.74; 95% CI, 0.60-0.91), and kidney cancer (HR, 0.76; 95% CI, 0.64-0.91). Although not statistically significant, the HR for stomach cancer was less than 1 among patients who took GLP-1RAs compared with those who took insulin (HR, 0.73; 95% CI, 0.51-1.03). GLP-1RAs were not associated with a reduced risk of postmenopausal breast cancer or thyroid cancer. Of those cancers that showed a decreased risk among patients taking GLP-1RAs compared with those taking insulin, HRs for patients taking GLP-1RAs vs those taking metformin for colorectal and gallbladder cancer were less than 1, but the risk reduction was not statistically significant. Compared with metformin, GLP-1RAs were not associated with a decreased risk of any cancers, but were associated with an increased risk of kidney cancer (HR, 1.54; 95% CI, 1.27-1.87). Conclusions and Relevance: In this study, GLP-1RAs were associated with lower risks of specific types of OACs compared with insulins or metformin in patients with T2D. These findings provide preliminary evidence of the potential benefit of GLP-1RAs for cancer prevention in high-risk populations and support further preclinical and clinical studies for the prevention of certain OACs.
As healthcare systems around the world face challenges such as escalating costs, limited access, and growing demand for personalized care, artificial intelligence (AI) is emerging as a key force for transformation. This review is motivated by the urgent need to harness AI's potential to mitigate these issues and aims to critically assess AI's integration in different healthcare domains. We explore how AI empowers clinical decision-making, optimizes hospital operation and management, refines medical image analysis, and revolutionizes patient care and monitoring through AI-powered wearables. Through several case studies, we review how AI has transformed specific healthcare domains and discuss the remaining challenges and possible solutions. Additionally, we will discuss methodologies for assessing AI healthcare solutions, ethical challenges of AI deployment, and the importance of data privacy and bias mitigation for responsible technology use. By presenting a critical assessment of AI's transformative potential, this review equips researchers with a deeper understanding of AI's current and future impact on healthcare. It encourages an interdisciplinary dialogue between researchers, clinicians, and technologists to navigate the complexities of AI implementation, fostering the development of AI-driven solutions that prioritize ethical standards, equity, and a patient-centered approach.
The use of digital twins (DTs) has proliferated across various fields and industries, with a recent surge in the healthcare sector. The concept of digital twin for health (DT4H) holds great promise to revolutionize the entire healthcare system, including management and delivery, disease treatment and prevention, and health well-being maintenance, ultimately improving human life. The rapid growth of big data and continuous advancement in data science (DS) and artificial intelligence (AI) have the potential to significantly expedite DT research and development by providing scientific expertise, essential data, and robust cybertechnology infrastructure. Although various DT initiatives have been underway in the industry, government, and military, DT4H is still in its early stages. This paper presents an overview of the current applications of DTs in healthcare, examines consortium research centers and their limitations, and surveys the current landscape of emerging research and development opportunities in healthcare. We envision the emergence of a collaborative global effort among stakeholders to enhance healthcare and improve the quality of life for millions of individuals worldwide through pioneering research and development in the realm of DT technology.
BACKGROUND: Artificial intelligence (AI), particularly generative AI, has emerged as a transformative tool in healthcare, with the potential to revolutionize clinical decision-making and improve health outcomes. Generative AI, capable of generating new data such as text and images, holds promise in enhancing patient care, revolutionizing disease diagnosis and expanding treatment options. However, the utility and impact of generative AI in healthcare remain poorly understood, with concerns around ethical and medico-legal implications, integration into healthcare service delivery and workforce utilisation. Also, there is not a clear pathway to implement and integrate generative AI in healthcare delivery. METHODS: This article aims to provide a comprehensive overview of the use of generative AI in healthcare, focusing on the utility of the technology in healthcare and its translational application highlighting the need for careful planning, execution and management of expectations in adopting generative AI in clinical medicine. Key considerations include factors such as data privacy, security and the irreplaceable role of clinicians' expertise. Frameworks like the technology acceptance model (TAM) and the Non-Adoption, Abandonment, Scale-up, Spread and Sustainability (NASSS) model are considered to promote responsible integration. These frameworks allow anticipating and proactively addressing barriers to adoption, facilitating stakeholder participation and responsibly transitioning care systems to harness generative AI's potential. RESULTS: Generative AI has the potential to transform healthcare through automated systems, enhanced clinical decision-making and democratization of expertise with diagnostic support tools providing timely, personalized suggestions. Generative AI applications across billing, diagnosis, treatment and research can also make healthcare delivery more efficient, equitable and effective. However, integration of generative AI necessitates meticulous change management and risk mitigation strategies. Technological capabilities alone cannot shift complex care ecosystems overnight; rather, structured adoption programs grounded in implementation science are imperative. CONCLUSIONS: It is strongly argued in this article that generative AI can usher in tremendous healthcare progress, if introduced responsibly. Strategic adoption based on implementation science, incremental deployment and balanced messaging around opportunities versus limitations helps promote safe, ethical generative AI integration. Extensive real-world piloting and iteration aligned to clinical priorities should drive development. With conscientious governance centred on human wellbeing over technological novelty, generative AI can enhance accessibility, affordability and quality of care. As these models continue advancing rapidly, ongoing reassessment and transparent communication around their strengths and weaknesses remain vital to restoring trust, realizing positive potential and, most importantly, improving patient outcomes.
BACKGROUND: Artificial Intelligence (AI) is rapidly transforming healthcare, and there is a critical need for a nuanced understanding of how AI is reshaping teaching, learning, and educational practice in medical education. This review aimed to map the literature regarding AI applications in medical education, core areas of findings, potential candidates for formal systematic review and gaps for future research. METHODS: This rapid scoping review, conducted over 16 weeks, employed Arksey and O'Malley's framework and adhered to STORIES and BEME guidelines. A systematic and comprehensive search across PubMed/MEDLINE, EMBASE, and MedEdPublish was conducted without date or language restrictions. Publications included in the review spanned undergraduate, graduate, and continuing medical education, encompassing both original studies and perspective pieces. Data were charted by multiple author pairs and synthesized into various thematic maps and charts, ensuring a broad and detailed representation of the current landscape. RESULTS: The review synthesized 278 publications, with a majority (68%) from North American and European regions. The studies covered diverse AI applications in medical education, such as AI for admissions, teaching, assessment, and clinical reasoning. The review highlighted AI's varied roles, from augmenting traditional educational methods to introducing innovative practices, and underscores the urgent need for ethical guidelines in AI's application in medical education. CONCLUSION: The current literature has been charted. The findings underscore the need for ongoing research to explore uncharted areas and address potential risks associated with AI use in medical education. This work serves as a foundational resource for educators, policymakers, and researchers in navigating AI's evolving role in medical education. A framework to support future high utility reporting is proposed, the FACETS framework.
We aim to build and evaluate an open-source natural language processing system for information extraction from electronic medical record clinical free-text. We describe and evaluate our system, the clinical Text Analysis and Knowledge Extraction System (cTAKES), released open-source at http://www.ohnlp.org. The cTAKES builds on existing open-source technologies-the Unstructured Information Management Architecture framework and OpenNLP natural language processing toolkit. Its components, specifically trained for the clinical domain, create rich linguistic and semantic annotations. Performance of individual components: sentence boundary detector accuracy=0.949; tokenizer accuracy=0.949; part-of-speech tagger accuracy=0.936; shallow parser F-score=0.924; named entity recognizer and system-level evaluation F-score=0.715 for exact and 0.824 for overlapping spans, and accuracy for concept mapping, negation, and status attributes for exact and overlapping spans of 0.957, 0.943, 0.859, and 0.580, 0.939, and 0.839, respectively. Overall performance is discussed against five applications. The cTAKES annotations are the foundation for methods and modules for higher-level semantic processing of clinical free-text.
Objective: This article describes a scalable, performant, sustainable global network of electronic health record data for biomedical and clinical research. Materials and Methods: TriNetX has created a technology platform characterized by a conservative security and governance model that facilitates collaboration and cooperation between industry participants, such as pharmaceutical companies and contract research organizations, and academic and community-based healthcare organizations (HCOs). HCOs participate on the network in return for access to a suite of analytics capabilities, large networks of de-identified data, and more sponsored trial opportunities. Industry participants provide the financial resources to support, expand, and improve the technology platform in return for access to network data, which provides increased efficiencies in clinical trial design and deployment. Results: TriNetX is a growing global network, expanding from 55 HCOs and 7 countries in 2017 to over 220 HCOs and 30 countries in 2022. Over 19 000 sponsored clinical trial opportunities have been initiated through the TriNetX network. There have been over 350 peer-reviewed scientific publications based on the network's data. Conclusions: The continued growth of the TriNetX network and its yield of clinical trial collaborations and published studies indicates that this academic-industry structure is a safe, proven, sustainable path for building and maintaining research-centric data networks.
In this review, we address the issue of fairness in the clinical integration of artificial intelligence (AI) in the medical field. As the clinical adoption of deep learning algorithms, a subfield of AI, progresses, concerns have arisen regarding the impact of AI biases and discrimination on patient health. This review aims to provide a comprehensive overview of concerns associated with AI fairness; discuss strategies to mitigate AI biases; and emphasize the need for cooperation among physicians, AI researchers, AI developers, policymakers, and patients to ensure equitable AI integration. First, we define and introduce the concept of fairness in AI applications in healthcare and radiology, emphasizing the benefits and challenges of incorporating AI into clinical practice. Next, we delve into concerns regarding fairness in healthcare, addressing the various causes of biases in AI and potential concerns such as misdiagnosis, unequal access to treatment, and ethical considerations. We then outline strategies for addressing fairness, such as the importance of diverse and representative data and algorithm audits. Additionally, we discuss ethical and legal considerations such as data privacy, responsibility, accountability, transparency, and explainability in AI. Finally, we present the Fairness of Artificial Intelligence Recommendations in healthcare (FAIR) statement to offer best practices. Through these efforts, we aim to provide a foundation for discussing the responsible and equitable implementation and deployment of AI in healthcare.
As simulation is playing an increasingly important role in medicine, providing the individual patient with a customised diagnosis and treatment is envisaged as part of future precision medicine. Such customisation will become possible through the emergence of digital twin (DT) technology. The objective of this article is to review the progress of prominent research on DT technology in medicine and discuss the potential applications and future opportunities as well as several challenges remaining in digital healthcare. A review of the literature was conducted using PubMed, Web of Science, Google Scholar, Scopus and related bibliographic resources, in which the following terms and their derivatives were considered during the search: DT, medicine and digital health virtual healthcare. Finally, analyses of the literature yielded 465 pertinent articles, of which we selected 22 for detailed review. We summarised the application examples of DT in medicine and analysed the applications in many fields of medicine. It revealed encouraging results that DT is being increasing applied in medicine. Results from this literature review indicated that DT healthcare, as a key fusion approach of future medicine, will bring the advantages of precision diagnose and personalised treatment into reality.
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The potential of artificial intelligence (AI) to reduce health care disparities and inequities is recognized, but it can also exacerbate these issues if not implemented in an equitable manner. This perspective identifies potential biases in each stage of the AI life cycle, including data collection, annotation, machine learning model development, evaluation, deployment, operationalization, monitoring, and feedback integration. To mitigate these biases, we suggest involving a diverse group of stakeholders, using human-centered AI principles. Human-centered AI can help ensure that AI systems are designed and used in a way that benefits patients and society, which can reduce health disparities and inequities. By recognizing and addressing biases at each stage of the AI life cycle, AI can achieve its potential in health care.
Variation in human biology means that two seemingly similar patients may have different clinical presentations or therapeutic responses. Patient-centered case reports highlight these novel cases and help to broaden clinicians' knowledge of clinical manifestation of disease, diagnostic approach, or therapeutic alternatives. Similarly, in applied clinical informatics (CI), informatics professionals must grapple with the heterogeneity of health system structures and digital health tool configurations. Exposure to a breadth of different informatics program designs and implementations is crucial to this learning process. Sometimes known as organizational case reports, these nonclinical case reports provide educational exposure to multiple perspectives, different health system settings, and a variety of electronic health record (EHR) products. In the informatics literature, we call these CI case reports, and they offer insights into CI in a specific real-word context while illustrating fundamental CI principles. Examples of CI case reports are published in NEJM Catalyst, the Journal of the American Medical Informatics Association (JAMIA), and JAMIA Open, Applied Clinical Informatics (ACI) and ACI Open, Journal of Medical Internet Research (JMIR), and others.
BACKGROUND: Synthesis of multiple randomized controlled trials (RCTs) in a systematic review can summarize the effects of individual outcomes and provide numerical answers about the effectiveness of interventions. Filtering of searches is time consuming, and no single method fulfills the principal requirements of speed with accuracy. Automation of systematic reviews is driven by a necessity to expedite the availability of current best evidence for policy and clinical decision-making. We developed Rayyan ( http://rayyan.qcri.org ), a free web and mobile app, that helps expedite the initial screening of abstracts and titles using a process of semi-automation while incorporating a high level of usability. For the beta testing phase, we used two published Cochrane reviews in which included studies had been selected manually. Their searches, with 1030 records and 273 records, were uploaded to Rayyan. Different features of Rayyan were tested using these two reviews. We also conducted a survey of Rayyan's users and collected feedback through a built-in feature. RESULTS: Pilot testing of Rayyan focused on usability, accuracy against manual methods, and the added value of the prediction feature. The "taster" review (273 records) allowed a quick overview of Rayyan for early comments on usability. The second review (1030 records) required several iterations to identify the previously identified 11 trials. The "suggestions" and "hints," based on the "prediction model," appeared as testing progressed beyond five included studies. Post rollout user experiences and a reflexive response by the developers enabled real-time modifications and improvements. The survey respondents reported 40% average time savings when using Rayyan compared to others tools, with 34% of the respondents reporting more than 50% time savings. In addition, around 75% of the respondents mentioned that screening and labeling studies as well as collaborating on reviews to be the two most important features of Rayyan. As of November 2016, Rayyan users exceed 2000 from over 60 countries conducting hundreds of reviews totaling more than 1.6M citations. Feedback from users, obtained mostly through the app web site and a recent survey, has highlighted the ease in exploration of searches, the time saved, and simplicity in sharing and comparing include-exclude decisions. The strongest features of the app, identified and reported in user feedback, were its ability to help in screening and collaboration as well as the time savings it affords to users. CONCLUSIONS: Rayyan is responsive and intuitive in use with significant potential to lighten the load of reviewers.
Regardless of the type of biomedical and health informatics research conducted (eg computational, randomized controlled trials, qualitative, mixed methods), transparency, reproducibility, and replicability are crucial to scientific rigor, open science, and advancing the knowledge base of our field and its application across practice domains. These principles are also essential to high-quality publications in Journal of the American Medical Informatics Association (JAMIA). Transparency is reflected by explicit, clear, and open communication about the methods and procedures used to obtain the research results and is foundational to reproducibility (ability to repeatedly obtain the same results from data) and replicability (ability of other investigators to observe the same result under identical conditions). In the following paragraphs, I summarize key strategies from a number of authors 1-3 as well as my own thoughts in 4 categories (data, code, connect, publish) and, when applicable, describe their relationship to publishing in JAMIA. While the principles apply across types of research, the relevance of some strategies varies.
Biomedical informatics is a young, highly interdisciplinary field that is evolving quickly. It is important to know which published topics in generalist biomedical informatics journals elicit the most interest from the scientific community, and whether this interest changes over time, so that journals can better serve their readers. It is also important to understand whether free access to biomedical informatics articles impacts their citation rates in a significant way, so authors can make informed decisions about unlock fees, and journal owners and publishers understand the implications of open access. The topics and JAMIA articles from years 2009 and 2010 that have been most cited according to the Web of Science are described. To better understand the effects of free access in article dissemination, the number of citations per month after publication for articles published in 2009 versus 2010 was compared, since there was a significant change in free access to JAMIA articles between those years. Results suggest that there is a positive association between free access and citation rate for JAMIA articles.