International Medical Informatics Association Yearbook Research Articles

Informatics for One Health.

To introduce the 2023 International Medical Informatics Association (IMIA) Yearbook by the editors. The editorial provides an introduction and overview to the 2023 IMIA Yearbook where the special topic is "Informatics for One Health". The special topic, survey papers and some best papers are discussed. The section changes in the Yearbook editorial committee are also described. IMIA Yearbook 2023 provides many perspectives on a relatively new topic called "One Digital Health". The subject is vast, and includes the use of digital technologies to promote the well-being of people and animals, but also of the environment in which they evolve. Many sections produced new work in the topic including One Health and all sections included the latest themes in many specialties in medical informatics. The theme of "Informatics for One Health" is relatively new but the editors of the IMIA Yearbook have presented excellent and thought-provoking work for biomedical informatics in 2023.

Knowledge Representation and Management 2022: Findings in Ontology Development and Applications.

To select, present, and summarize the best papers in 2022 for the Knowledge Representation and Management (KRM) section of the International Medical Informatics Association (IMIA) Yearbook. We conducted PubMed queries and followed the IMIA Yearbook guidelines for performing biomedical informatics literature review to select the best papers in KRM published in 2022. We retrieved 1,847 publications from PubMed. We nominated 15 candidate best papers, and two of them were finally selected as the best papers in the KRM section. The topics covered by the candidate papers include ontology and knowledge graph creation, ontology applications, ontology quality assurance, ontology mapping standard, and conceptual model. In the KRM best paper selection for 2022, the candidate best papers encompassed a broad range of topics, with ontology and knowledge graph creation remaining a considerable research focus.

Clinical Decision Support Systems: Contributions from 2021.

To summarize significant research contributions published in 2021 in the field of clinical decision support (CDS) systems and select the best papers for the Decision Support section of the International Medical Informatics Association (IMIA) Yearbook. The authors searched the MEDLINE® database for papers focused on clinical decision support (CDS) systems. From search results, section editors established a list of candidate best papers, which were then peer-reviewed by at least three external reviewers. The IMIA Yearbook editorial committee selected the best papers on the basis of all reviews including the section editors' evaluation. A total of 337 articles were retrieved from which 13 candidate papers were identified. Finally, from the candidate papers, the top three papers were selected. The first paper introduces an innovative evaluation approach to CDS systems, the second compares six health institutions on how they are measuring CDS alert fatigue and the last one adds new evidence on how CDS can help to reduce unnecessary interventions.

Inclusive Digital Health.

To introduce the 2022 International Medical Informatics Association (IMIA) Yearbook by the editors. The editorial provides an introduction and overview to the 2022 IMIA Yearbook whose special topic is "Inclusive Digital Health: Addressing Equity, Literacy, and Bias for Resilient Health Systems". The special topic, survey papers, section editor synopses and some best papers are discussed. The sections' changes in the Yearbook Editorial Committee are also described. As shown in the previous edition, health informatics in the context of a global pandemic has led to the development of ways to collect, standardize, disseminate and reuse data worldwide. The Corona Virus Disease 2019 (COVID-19) pandemic has demonstrated the need for timely, reliable, open, and globally available information to support decision making. It has also highlighted the need to address social inequities and disparities in access to care across communities. This edition of the Yearbook acknowledges the fact that much work has been done to study health equity in recent years in the various fields of health informatics research. There is a strong desire to better consider disparities between populations to avoid biases being induced in Artificial Intelligence algorithms in particular. Telemedicine and m-health must be more inclusive for people with disabilities or living in isolated geographical areas.

Health Data, Information, and Knowledge Sharing for Addressing the COVID-19

SummaryObjectives: To introduce the 2021 International Medical Informatics Association (IMIA) Yearbook by the editors. Methods: The editorial provides an introduction and overview to the 2021 IMIA Yearbook whose special topic is “Managing Pandemics with Health Informatics - Successes and Challenges”. The Special Topic, the keynote paper, and survey papers are discussed. The IMIA President's statement and the IMIA dialogue with the World Health Organization are introduced. The sections’ changes in the Yearbook Editorial Committee are also described. Results: Health informatics, in the context of a global pandemic, led to the development of ways to collect, standardize, disseminate and reuse data worldwide: public health data but also information from social networks and scientific literature. Fact checking methods were mostly based on artificial intelligence and natural language processing. The pandemic also introduced new challenges for telehealth support in times of critical response. Next generation sequencing in bioinformatics helped in decoding the sequence of the virus and the development of messenger ribonucleic acid (mRNA) vaccines. Conclusions: The Corona Virus Disease 2019 (COVID-19) pandemic shows the need for timely, reliable, open, and globally available information to support decision making and efficiently control outbreaks. Applying Findable, Accessible, Interoperable, and Reusable (FAIR) requirements for data is a key success factor while challenging ethical issues have to be considered.

Clinical Decision Support Systems and Computerized Provider Order Entry: Contributions from 2020.

SummaryObjectives: To summarize research contributions published in 2020 in the field of clinical decision support systems (CDSS) and computerized provider order entry (CPOE), and select the best papers for the Decision Support section of the International Medical Informatics Association (IMIA) Yearbook 2021. Methods: Two bibliographic databases were searched for papers referring to clinical decision support systems. From search results, section editors established a list of candidate best papers, which were then peer-reviewed by seven external reviewers. The IMIA Yearbook editorial committee finally selected the best papers on the basis of all reviews including the section editors’ evaluation. Results: A total of 1,919 articles were retrieved. 15 best paper candidates were selected, the reviews of which resulted in the selection of two best papers. One paper reports on the use of electronic health records to support a public health response to the COVID-19 pandemic in the United States. The second paper proposes a combination of CDSS and telemedicine as a technology-based intervention to improve the outcomes of depression as part of a cluster trial. Conclusions: As shown by the number and the variety of works related to clinical decision support, research in the field is very active. This year's selection highlighted the application of CDSS to fight COVID-19 and a combined technology-based strategy to improve the treatment of depression.

Predictions, Pivots, and a Pandemic: a Review of 2020's Top Translational Bioinformatics Publications.

SummaryObjectives: Provide an overview of the emerging themes and notable papers which were published in 2020 in the field of Bioinformatics and Translational Informatics (BTI) for the International Medical Informatics Association Yearbook. Methods: A team of 16 individuals scanned the literature from the past year. Using a scoring rubric, papers were evaluated on their novelty, importance, and objective quality. 1,224 Medical Subject Headings (MeSH) terms extracted from these papers were used to identify themes and research focuses. The authors then used the scoring results to select notable papers and trends presented in this manuscript. Results: The search phase identified 263 potential papers and central themes of coronavirus disease 2019 (COVID-19), machine learning, and bioinformatics were examined in greater detail. Conclusions: When addressing a once in a centruy pandemic, scientists worldwide answered the call, with informaticians playing a critical role. Productivity and innovations reached new heights in both TBI and science, but significant research gaps remain.

Clinical Information Systems Research in the Pandemic Year 2020

SummaryObjective: In this synopsis, we give an overview of recent research and propose a selection of best papers published in 2020 in the field of Clinical Information Systems (CIS). Method: As CIS section editors, we annually apply a systematic process to retrieve articles for the International Medical Informatics Association Yearbook of Medical Informatics. For seven years now, we use the same query to find relevant publications in the CIS field. Each year we retrieve more than 2,400 papers which we categorize in a multi-pass review to distill a preselection of 15 candidate papers. External reviewers and yearbook editors then assess the selected candidate papers. Based on the review results, the IMIA Yearbook editorial board chooses up to four best publications for the section at a selection meeting. To get an overview of the content of the retrieved articles, we use text mining and term co-occurrence mapping techniques. Results: We carried out the query in mid-January 2021 and retrieved a deduplicated result set of 2,787 articles from 1,135 different journals. We nominated 15 papers as candidates and finally selected four of them as the best papers in the CIS section. As in the previous years, the content analysis of the articles revealed the broad spectrum of topics covered by CIS research. Thus, this year we could observe a significant impact of COVID-19 on CIS research. Conclusions: The trends in CIS research, as seen in recent years, continue to be observable. What was very visible was the impact of the Corona Virus Disease 2019 (COVID-19) pandemic, which has affected not only our lives but also CIS.

Design and Use of Semantic Resources: Findings from the Section on Knowledge Representation and Management of the 2020 International Medical Informatics Association Yearbook.

Summary Objective : To select, present, and summarize the best papers in the field of Knowledge Representation and Management (KRM) published in 2019. Methods : A comprehensive and standardized review of the biomedical informatics literature was performed to select the most interesting papers of KRM published in 2019, based on PubMed and ISI Web Of Knowledge queries. Results : Four best papers were selected among 1,189 publications retrieved, following the usual International Medical Informatics Association Yearbook reviewing process. In 2019, research areas covered by pre-selected papers were represented by the design of semantic resources (methods, visualization, curation) and the application of semantic representations for the integration/enrichment of biomedical data. Besides new ontologies and sound methodological guidance to rethink knowledge bases design, we observed large scale applications, promising results for phenotypes characterization, semantic-aware machine learning solutions for biomedical data analysis, and semantic provenance information representations for scientific reproducibility evaluation. Conclusion : In the KRM selection for 2019, research on knowledge representation demonstrated significant contributions both in the design and in the application of semantic resources. Semantic representations serve a great variety of applications across many medical domains, with actionable results.

Pragmatic Considerations on Clinical Decision Support from the 2019 Literature.

Summary Objectives : To summarize significant research contributions published in 2019 in the field of computerized clinical decision support and select the best papers for the Decision Support section of the International Medical Informatics Association (IMIA) Yearbook. Methods : Two bibliographic databases were searched for papers referring to clinical decision support systems (CDSSs) and computerized provider order entry (CPOE) systems. From search results, section editors established a list of candidate best papers, which were then peer-reviewed by external reviewers. The IMIA Yearbook editorial committee finally selected the best papers on the basis of all reviews including the section editors’ evaluation. Results : A total of 1,378 articles were retrieved. Fifteen best paper candidates were selected, the reviews of which resulted in the selection of three best papers. One paper reports on a guideline modeling approach based on clinical decision trees, both clinically interpretable and suitable for implementation in CDSSs. In another paper, authors promote the use of extended Timed Transition Diagrams in CDSSs to formalize consistently recurrent medical processes for chronic diseases management. The third paper proposes a conceptual framework and a grid for assessing the performance of predictive tools based on the critical appraisal of published evidence. Conclusions : As showed by the number and the variety of works related to decision support, research in the field is very active. This year’s selection highlighted pragmatic works that promote transparency and trust required by decision support tools.

Transparency of Health Informatics Processes as the Condition of Healthcare Professionals’ and Patients’ Trust and Adoption: the Rise of Ethical Requirements

Summary Objectives : To provide an introduction to the 2020 International Medical Informatics Association (IMIA) Yearbook by the editors. Methods : This editorial provides an introduction and overview to the 2020 IMIA Yearbook which special topic is: “Ethics in Health Informatics”. The keynote paper, the survey paper of the Special Topic section, and the paper about Donald Lindberg’s ethical scientific openness in the History of Medical Informatics chapter of the Yearbook are discussed. Changes in the Yearbook Editorial Committee are also described. Results : Inspired by medical ethics, ethics in health informatics progresses with the advances in biomedical informatics. With the wide use of EHRs, the enlargement of the care team perimeter, the need for data sharing for care continuity, the reuse of data for the sake of research, and the implementation of AI-powered decision support tools, new ethics requirements are necessary to address issues such as threats on privacy, confidentiality breaches, poor security practices, lack of patient information, tension on data sharing and reuse policies, need for more transparency on apps effectiveness, biased algorithms with discriminatory outcomes, guarantee on trustworthy AI, concerns on the re-identification of de-identified data. Conclusions : Despite privacy rules rooted in the Health Insurance Portability and Accountability Act of 1996 (HIPAA) in the USA and even more restrictive new regulations such as the EU General Data Protection Regulation published in May 2018, some people do not believe their data will be kept confidential and may not share sensitive information with a provider, which may also induce unethical situations. Transparency on healthcare data processes is a condition of healthcare professionals’ and patients’ trust and their adoption of digital tools.

Contributions from the 2019 Literature on Bioinformatics and Translational Informatics.

Summary Objectives : Summarize recent research and select the best papers published in 2019 in the field of Bioinformatics and Translational Informatics (BTI) for the corresponding section of the International Medical Informatics Association Yearbook. Methods : A literature review was performed for retrieving from PubMed papers indexed with keywords and free terms related to BTI. Independent review allowed the section editors to select a list of 15 candidate best papers which were subsequently peer-reviewed. A final consensus meeting gathering the whole Yearbook editorial committee was organized to finally decide on the selection of the best papers. Results : Among the 931 retrieved papers covering the various subareas of BTI, the review process selected four best papers. The first paper presents a logical modeling of cancer pathways. Using their tools, the authors are able to identify two known behaviours of tumors. The second paper describes a deep-learning approach to predicting resistance to antibiotics in Mycobacterium tuberculosis. The authors of the third paper introduce a Genomic Global Positioning System (GPS) enabling comparison of genomic data with other individuals or genomics databases while preserving privacy. The fourth paper presents a multi-omics and temporal sequence-based approach to provide a better understanding of the sequence of events leading to Alzheimer’s Disease. Conclusions : Thanks to the normalization of open data and open science practices, research in BTI continues to develop and mature. Noteworthy achievements are sophisticated applications of leading edge machine-learning methods dedicated to personalized medicine.

Findings from the Health Information Management Section of the 2020 International Medical Informatics Association Yearbook.

Summary Objectives : To summarize the recent literature and research and present a selection of the best papers published in 2019 in the field of Health Information Management (HIM) and Health Informatics. Methods : A systematic review of the literature was performed by the two section editors with the help of a medical librarian. The search through bibliographic databases for HIM-related papers was achieved using both MeSH headings and keywords in titles and abstracts. A shortlist of 15 candidate best papers was first selected by section editors before being peer-reviewed by independent external reviewers. Results : Over half of the 15 papers addressed the issue of data quality in the electronic health record (EHR). In addition to the focus on data quality, there were papers on other topics of long-standing interest to the field of HIM. These topics include privacy, security, and confidentiality of health information, comparability of different coding vocabularies, classifications and terminologies, and the HIM workforce. Finally, there were papers on newer topics for the HIM field, including mobile Health (mHealth), EHR use by public health departments, and usability of different strategies for displaying information in the EHR. Conclusions : Traditional HIM concerns about HIM practice and workforce as well as issues about data in the EHR including data quality, coding, and privacy and confidentiality continue to be a large part of the HIM research literature. However, newer topics which reflect innovative and emerging technologies, usability assessments, and the application of the EHR outside the traditional clinical setting are starting to appear and more research is needed on these newer areas.

International Academy of Health Sciences Informatics (IAHSI): Strategy and Focus Areas, 1st Version.

Summary Background : The International Academy of Health Sciences Informatics (IAHSI) is the Academy of the International Medical Informatics Association (IMIA). As an international forum for peers in biomedical and health informatics, the Academy shall play an important role in exchanging knowledge, providing education and training, and producing policy documents. Objectives : A major priority of the Academy’s activities in its inaugural phase was to define its strategy and focus areas in accordance with its objectives and to prioritize the Academy’s work, which can then be transferred to respective taskforces. Method : This document reflects the major outcomes of intensive discussions that occurred during 2019. It was presented at the Academy’s 3rd Plenary on August 25th, 2019, in Lyon, France. Results : Regardless of the ‘living nature’ of the strategy and focus areas document, it was concluded during the Plenary that the first version, which will be used as a base for decisions on the Academy’s future activities, should be made available to a broad audience. Three out of eight ‘Visions for IAHSI‘, presented in the IMIA Yearbook of Medical Informatics 2018, were identified as central for developing, implementing, and evaluating the Academy’s strategic directions: (1) advise governments and organizations on developing health and health sciences through informatics, (2) stimulate progress in biomedical and health informatics research, education, and practice, and (3) share and exchange knowledge. Taskforces shall be implemented to work in the following areas, which were considered as priority themes: (1) artificial intelligence in health: future collaboration of entities with natural and with artificial intelligence in health care, and (2) current landscape of standards for digital health. Conclusions : Taskforces are now being established. Besides specific key performance indicators, suggested for monitoring the work of theses taskforces, the strategy to monitor the progress of the Academy itself has to be measured by relevant and acceptable metrics.

Findings from the 2019 International Medical Informatics Association Yearbook Section on Health Information Management.

Summary Objectives : To summarize the recent literature and research and present a selection of the best papers published in 2018 in the field of Health Information Management (HIM) and Health Informatics. Methods : A systematic review of the literature was performed, with the help of a medical librarian, by the two editors of the HIM section of the International Medical Informatics Association (IMIA) Yearbook. In order to include papers that would address the special theme of the 2019 Yearbook on artificial intelligence (AI) as well as HIM, we searched bibliographic databases for HIM-related papers with an AI focus using both Medical Subject Headings (MeSH) descriptors and keywords in titles and abstracts. A shortlist of 15 candidate best papers was first selected by section editors before being peer-reviewed by independent external reviewers. Results : While there were a significant number of manuscripts that addressed issues relevant to HIM, there were virtually none with MeSH headings indicating an HIM focus. Manuscripts that were considered related to the HIM field in terms of the practice of health information management as well as the profession included those that examined using machine learning and other AI approaches to identify protected health information in clinical text to aid with de-identification, automated coding approaches to translate free-text into standardized codes, and natural language processing approaches to extract clinical data to assist with populating cancer and other registries. Conclusions : The papers discussed in the HIM section reflect the special theme of the use of AI in healthcare on issues particularly relevant to the field of HIM. This synopsis discusses these papers and recommends that HIM practitioners be more involved in research and that researchers in AI and related areas recognize the applicability and relevance of their work to the field of HIM.

Contributions from the 2018 Literature on Bioinformatics and Translational Informatics.

Summary Objectives : To summarize recent research and select the best papers published in 2018 in the field of Bioinformatics and Translational Informatics (BTI) for the corresponding section of the International Medical Informatics Association (IMIA) Yearbook. Methods : A literature review was performed for retrieving from PubMed papers indexed with keywords and free terms related to BTI. Independent review allowed the two section editors to select a list of 14 candidate best papers which were subsequently peer-reviewed. A final consensus meeting gathering the whole IMIA Yearbook editorial committee was organized to finally decide on the selection of the best papers. Results : Among the 636 retrieved papers published in 2018 in the various subareas of BTI, the review process selected four best papers. The first paper presents a computational method to identify molecular markers for targeted treatment of acute myeloid leukemia using multi-omics data (genome-wide gene expression profiles) and in vitro sensitivity to 160 chemotherapy drugs. The second paper describes a deep neural network approach to predict the survival of patients suffering from glioma on the basis of digitalised pathology images and genomics biomarkers. The authors of the third paper adopt a pan-cancer approach to take benefit of multi-omics data for drug repurposing. The fourth paper presents a graph-based semi-supervised method to accurate phenotype classification applied to ovarian cancer. Conclusions : Thanks to the normalization of open data and open science practices, research in BTI continues to develop and mature. Noteworthy achievements are sophisticated applications of leading edge machine-learning methods dedicated to personalized medicine.

Expanding the Diversity of Texts and Applications: Findings from the Section on Clinical Natural Language Processing of the International Medical Informatics Association Yearbook.

Summary Objectives: To summarize recent research and present a selection of the best papers published in 2017 in the field of clinical Natural Language Processing (NLP). Methods: A survey of the literature was performed by the two editors of the NLP section of the International Medical Informatics Association (IMIA) Yearbook. Bibliographic databases PubMed and Association of Computational Linguistics (ACL) Anthology were searched for papers with a focus on NLP efforts applied to clinical texts or aimed at a clinical outcome. A total of 709 papers were automatically ranked and then manually reviewed based on title and abstract. A shortlist of 15 candidate best papers was selected by the section editors and peer-reviewed by independent external reviewers to come to the three best clinical NLP papers for 2017. Results: Clinical NLP best papers provide a contribution that ranges from methodological studies to the application of research results to practical clinical settings. They draw from text genres as diverse as clinical narratives across hospitals and languages or social media. Conclusions: Clinical NLP continued to thrive in 2017, with an increasing number of contributions towards applications compared to fundamental methods. Methodological work explores deep learning and system adaptation across language variants. Research results continue to translate into freely available tools and corpora, mainly for the English language.

Findings from 2017 on Health Information Management

Summary Objective: To summarize the recent literature and research and present a selection of the best papers published in 2017 in the field of Health Information Management (HIM) and Health Informatics. Methods: A systematic review of the literature was performed by the two HIM section editors of the International Medical Informatics Association (IMIA) Yearbook with the help of a medical librarian. We searched bibliographic databases for HIM-related papers using both MeSH descriptors and keywords in titles and abstracts. A shortlist of 15 candidate best papers was first selected by section editors before being peer-reviewed by independent external reviewers. Results: Health Information Exchange was a major theme within candidate best papers. The four papers ultimately selected as ‘Best Papers’ represent themes that include health information exchange, governance and policy issues, results of health information exchange, and methods of integrating information from multiple sources. Other articles within the candidate best papers include these themes as well as those focusing on authentication and de-identification and usability of information systems. Conclusions: The papers discussed in the HIM section of IMIA Yearbook reflect the overall theme of the 2018 edition of the Yearbook, i.e., the tension between privacy and access to information. While most of the papers focused on health information exchange, which reflects the “access” side of the equation, most of the others addressed privacy issues. This synopsis discusses these key issues at the intersection of HIM and informatics.

On the Way to Close the Loop in Information Logistics: Data from the Patient - Value for the Patient.

Summary Objective: To summarize recent research and to propose a selection of best papers published in 2017 in the field of Clinical Information Systems (CIS). Method: Each year a systematic process is carried out to retrieve articles and to select a set of best papers for the CIS section of the International Medical Informatics Association (IMIA) Yearbook of Medical Informatics. The query aiming at identifying relevant publications in the field of CIS was refined by the section editors during the last years. For three years now, the query is stable. It comprises search terms from the Medical Subject Headings (MeSH) thesaurus as well as additional free text search terms from PubMed and Web of Science ® . The retrieved articles were categorized in a multi-pass review carried out by the two section editors. The final selection of candidate papers was then peer-reviewed by Yearbook editors and external reviewers. Based on the review results, the best papers were then selected by the IMIA Yearbook editorial board. Text mining, and term co-occurrence mapping techniques were used to get an overview on the content of the retrieved articles. Results: The query was carried out in mid-January 2018, yielding a consolidated result set of 2,255 articles which had been published in 939 different journals. Out of them, 15 papers were nominated as candidate best papers and four of them were finally selected as best papers in the CIS section. Again, the content analysis of the articles revealed the broad spectrum of topics which is covered by CIS research. Conclusions: Modern clinical information systems serve as backbone for a very complex, trans-institutional information logistics process. Data that is produced by, documented in, shared via, organized in, presented by, and stored within clinical information systems is more and more reused for multiple purposes. We found a lot of examples showing the benefits of such data reuse with various novel approaches implemented to tackle the challenges of this process. We also found that the patient moves in the focus of interest of CIS research. So the loop of information logistics begins to close: data from the patients is used to produce value for the patients.

Visualization of the IMIA Yearbook of Medical Informatics Publications over the Last 25 Years.

The last 25 years have been a period of innovation in the area of medical informatics. The International Medical Informatics Association (IMIA) has published, every year for the last quarter century, the Yearbook of Medical Informatics, collating selected papers from various journals in an attempt to provide a summary of the academic medical informatics literature. The objective of this paper is to visualize the evolution of the medical informatics field over the last 25 years according to the frequency of word occurrences in the papers published in the IMIA Yearbook of Medical Informatics. A literature review was conducted examining the IMIA Yearbook of Medical Informatics between 1992 and 2015. These references were collated into a reference manager application to examine the literature using keyword searches, word clouds, and topic clustering. The data was considered in its entirety, as well as segregated into 3 time periods to examine the evolution of main trends over time. Several methods were used, including word clouds, cluster maps, and custom developed web-based information dashboards. The literature search resulted in a total of 1210 references published in the Yearbook, of which 213 references were excluded, resulting in 997 references for visualization. Overall, we found that publications were more technical and methods-oriented between 1992 and 1999; more clinically and patient-oriented between 2000 and 2009; and noted the emergence of "big data", decision support, and global health in the past decade between 2010 and 2015. Dashboards were additionally created to show individual reference data, as well as, aggregated information. Medical informatics is a vast and expanding area with new methods and technologies being researched, implemented, and evaluated. Determining visualization approaches that enhance our understanding of literature is an active area of research, and like medical informatics, is constantly evolving as new software and algorithms are developed. This paper examined several approaches for visualizing the medical informatics literature to show historical trends, associations, and aggregated summarized information to illustrate the state and changes in the IMIA Yearbook publications over the last quarter century.