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In this report, we describe the Automated Epidemiological Geotemporal Integrated Surveillance system (AEGIS), developed for real-time population health monitoring in the state of Massachusetts. AEGIS provides public health personnel with automated near-real-time situational awareness of utilization patterns at participating healthcare institutions, supporting surveillance of bioterrorism and naturally occurring outbreaks. As real-time public health surveillance systems become integrated into regional and national surveillance initiatives, the challenges of scalability, robustness, and data security become increasingly prominent. A modular and fault tolerant design helps AEGIS achieve scalability and robustness, while a distributed storage model with local autonomy helps to minimize risk of unauthorized disclosure. The report includes a description of the evolution of the design over time in response to the challenges of a regional and national integration environment. [ABSTRACT FROM AUTHOR]

Objective: This study sought to define a scalable architecture to support the National Health Information Network (NHIN). This architecture must concurrently support a wide range of public health, research, and clinical care activities.Study Design: The architecture fulfils five desiderata: (1) adopt a distributed approach to data storage to protect privacy, (2) enable strong institutional autonomy to engender participation, (3) provide oversight and transparency to ensure patient trust, (4) allow variable levels of access according to investigator needs and institutional policies, (5) define a self-scaling architecture that encourages voluntary regional collaborations that coalesce to form a nationwide network.Results: Our model has been validated by a large-scale, multi-institution study involving seven medical centers for cancer research. It is the basis of one of four open architectures developed under funding from the Office of the National Coordinator of Health Information Technology, fulfilling the biosurveillance use case defined by the American Health Information Community. The model supports broad applicability for regional and national clinical information exchanges.Conclusions: This model shows the feasibility of an architecture wherein the requirements of care providers, investigators, and public health authorities are served by a distributed model that grants autonomy, protects privacy, and promotes participation. [ABSTRACT FROM AUTHOR]

Objective: To address challenges in large-scale electronic health record (EHR) data exchange, we sought to develop, deploy, and test an open source, cloud-hosted app "listener" that accesses standardized data across the SMART/HL7 Bulk FHIR Access application programming interface (API)., Methods: We advance a model for scalable, federated, data sharing and learning. Cumulus software is designed to address key technology and policy desiderata including local utility, control, and administrative simplicity as well as privacy preservation during robust data sharing, and artificial intelligence (AI) for processing unstructured text., Results: Cumulus relies on containerized, cloud-hosted software, installed within a healthcare organization's security envelope. Cumulus accesses EHR data via the Bulk FHIR interface and streamlines automated processing and sharing. The modular design enables use of the latest AI and natural language processing tools and supports provider autonomy and administrative simplicity. In an initial test, Cumulus was deployed across 5 healthcare systems each partnered with public health. Cumulus output is patient counts which were aggregated into a table stratifying variables of interest to enable population health studies. All code is available open source. A policy stipulating that only aggregate data leave the institution greatly facilitated data sharing agreements., Discussion and Conclusion: Cumulus addresses barriers to data sharing based on (1) federally required support for standard APIs, (2) increasing use of cloud computing, and (3) advances in AI. There is potential for scalability to support learning across myriad network configurations and use cases., (© The Author(s) 2024. Published by Oxford University Press on behalf of the American Medical Informatics Association. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Objectives: According to the ideation-to-action framework of suicidality, suicidal ideation and suicidal action arise via distinct trajectories. Studying suicidality under this framework requires accurate identification of both ideation and action. We sought to assess the accuracy of ICD-10 codes for suicidal ideation and action in emergency department (ED) encounters., Methods: Accuracy of ICD-10 coding for suicidality was assessed through chart review of clinical notes for 205 ED encounters among patients 6-18 years old at a large academic pediatric hospital between June 1, 2016, and June 1, 2022. Physician notes were reviewed for documentation of past or present suicidal ideation, suicidal action, or both. The study cohort consisted of 103 randomly selected "cases," or encounters assigned at least one ICD-10 code for suicidality, and 102 propensity-matched "non-cases" lacking ICD-10 codes. Accuracy of ICD-10 codes was assessed using sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV)., Results: Against a gold standard chart review, the PPV for ICD-10 suicidality codes was 86.9%, and the NPV was 76.2%. Nearly half of encounters involving suicidality were not captured by ICD-10 coding (sensitivity=53.4%). Sensitivity was higher for ideation-present (82.4%) than for action-present (33.7%) or action-past (20.4%)., Conclusions: Many cases of suicidality may be missed by relying on only ICD-10 codes. Accuracy of ICD-10 codes is high for suicidal ideation but low for action. To scale the ideation-to-action model for use in large populations, better data sources are needed to identify cases of suicidal action.

Objective: To evaluate the real-world performance of the SMART/HL7 Bulk Fast Health Interoperability Resources (FHIR) Access Application Programming Interface (API), developed to enable push button access to electronic health record data on large populations, and required under the 21st Century Cures Act Rule., Materials and Methods: We used an open-source Bulk FHIR Testing Suite at 5 healthcare sites from April to September 2023, including 4 hospitals using electronic health records (EHRs) certified for interoperability, and 1 Health Information Exchange (HIE) using a custom, standards-compliant API build. We measured export speeds, data sizes, and completeness across 6 types of FHIR., Results: Among the certified platforms, Oracle Cerner led in speed, managing 5-16 million resources at over 8000 resources/min. Three Epic sites exported a FHIR data subset, achieving 1-12 million resources at 1555-2500 resources/min. Notably, the HIE's custom API outperformed, generating over 141 million resources at 12 000 resources/min., Discussion: The HIE's custom API showcased superior performance, endorsing the effectiveness of SMART/HL7 Bulk FHIR in enabling large-scale data exchange while underlining the need for optimization in existing EHR platforms. Agility and scalability are essential for diverse health, research, and public health use cases., Conclusion: To fully realize the interoperability goals of the 21st Century Cures Act, addressing the performance limitations of Bulk FHIR API is critical. It would be beneficial to include performance metrics in both certification and reporting processes., (© The Author(s) 2024. Published by Oxford University Press on behalf of the American Medical Informatics Association. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Background: Real-time surveillance of emerging infectious diseases necessitates a dynamically evolving, computable case definition, which frequently incorporates symptom-related criteria. For symptom detection, both population health monitoring platforms and research initiatives primarily depend on structured data extracted from electronic health records., Objective: This study sought to validate and test an artificial intelligence (AI)-based natural language processing (NLP) pipeline for detecting COVID-19 symptoms from physician notes in pediatric patients. We specifically study patients presenting to the emergency department (ED) who can be sentinel cases in an outbreak., Methods: Subjects in this retrospective cohort study are patients who are 21 years of age and younger, who presented to a pediatric ED at a large academic children's hospital between March 1, 2020, and May 31, 2022. The ED notes for all patients were processed with an NLP pipeline tuned to detect the mention of 11 COVID-19 symptoms based on Centers for Disease Control and Prevention (CDC) criteria. For a gold standard, 3 subject matter experts labeled 226 ED notes and had strong agreement (F 1 -score=0.986; positive predictive value [PPV]=0.972; and sensitivity=1.0). F 1 -score, PPV, and sensitivity were used to compare the performance of both NLP and the International Classification of Diseases, 10th Revision (ICD-10) coding to the gold standard chart review. As a formative use case, variations in symptom patterns were measured across SARS-CoV-2 variant eras., Results: There were 85,678 ED encounters during the study period, including 4% (n=3420) with patients with COVID-19. NLP was more accurate at identifying encounters with patients that had any of the COVID-19 symptoms (F 1 -score=0.796) than ICD-10 codes (F 1 -score =0.451). NLP accuracy was higher for positive symptoms (sensitivity=0.930) than ICD-10 (sensitivity=0.300). However, ICD-10 accuracy was higher for negative symptoms (specificity=0.994) than NLP (specificity=0.917). Congestion or runny nose showed the highest accuracy difference (NLP: F 1 -score=0.828 and ICD-10: F 1 -score=0.042). For encounters with patients with COVID-19, prevalence estimates of each NLP symptom differed across variant eras. Patients with COVID-19 were more likely to have each NLP symptom detected than patients without this disease. Effect sizes (odds ratios) varied across pandemic eras., Conclusions: This study establishes the value of AI-based NLP as a highly effective tool for real-time COVID-19 symptom detection in pediatric patients, outperforming traditional ICD-10 methods. It also reveals the evolving nature of symptom prevalence across different virus variants, underscoring the need for dynamic, technology-driven approaches in infectious disease surveillance., (©Andrew J McMurry, Amy R Zipursky, Alon Geva, Karen L Olson, James R Jones, Vladimir Ignatov, Timothy A Miller, Kenneth D Mandl. Originally published in the Journal of Medical Internet Research (https://www.jmir.org), 04.04.2024.)

Objective : To implement an open source, free, and easily deployable high throughput natural language processing module to extract concepts from clinician notes and map them to Fast Healthcare Interoperability Resources (FHIR). Materials and Methods : Using a popular open-source NLP tool (Apache cTAKES), we create FHIR resources that use modifier extensions to represent negation and NLP sourcing, and another extension to represent provenance of extracted concepts. Results : The SMART Text2FHIR Pipeline is an open-source tool, released through standard package managers, and publicly available container images that implement the mappings, enabling ready conversion of clinical text to FHIR. Discussion : With the increased data liquidity because of new interoperability regulations, NLP processes that can output FHIR can enable a common language for transporting structured and unstructured data. This framework can be valuable for critical public health or clinical research use cases. Conclusion : Future work should include mapping more categories of NLP-extracted information into FHIR resources and mappings from additional open-source NLP tools., (©2023 AMIA - All rights reserved.)

Purpose: Treatment of non-muscle-invasive bladder cancer (NMIBC) is guided by risk stratification using clinical and pathologic criteria. This study aimed to develop a natural language processing (NLP) model for identifying patients with high-risk NMIBC retrospectively from unstructured electronic medical records (EMRs) and to apply the model to describe patient and tumor characteristics., Methods: We used three independent EMR-derived data sets including adult patients with a bladder cancer diagnosis in 2011-2020 for NLP model development and training (n = 140), validation (n = 697), and application for the retrospective cohort analysis (n = 4,402). Deep learning methods were used to train NLP recognition of medical chart terminology to identify seven high-risk NMIBC criteria; model performance was assessed using the F1 score, weighted across features. An algorithm was then used to classify each patient as high-risk NMIBC (yes/no). Manually reviewed records served as the gold standard., Results: The F1 scores after model training were >0.7 for all but one uncommon feature (prostatic urethral involvement). The highest area under the receiver operating curves (AUC) was observed for Ta (0.897) and T1 (0.897); the lowest AUC was for carcinoma in situ (CIS; 0.617). For high-risk NMIBC classification, positive predictive value was 79.4%, negative predictive value was 93.2%, and false-positive rate was 8.9%. Sensitivity and specificity were 83.7% and 91.1%, respectively. Of 748 patients manually confirmed as having high-risk NMIBC, 196 (26%) had CIS (of whom 19% also had T1 and 23% also had Ta disease); 552 tumors (74%) had no associated CIS., Conclusion: The NLP model, combined with a rule-based algorithm, identified high-risk NMIBC with good performance and will enable future work to study real-world treatment patterns and clinical outcomes for high-risk NMIBC.

Objective: To identify a cohort of COVID-19 cases, including when evidence of virus positivity was only mentioned in the clinical text, not in structured laboratory data in the electronic health record (EHR)., Materials and Methods: Statistical classifiers were trained on feature representations derived from unstructured text in patient EHRs. We used a proxy dataset of patients with COVID-19 polymerase chain reaction (PCR) tests for training. We selected a model based on performance on our proxy dataset and applied it to instances without COVID-19 PCR tests. A physician reviewed a sample of these instances to validate the classifier., Results: On the test split of the proxy dataset, our best classifier obtained 0.56 F1, 0.6 precision, and 0.52 recall scores for SARS-CoV2 positive cases. In an expert validation, the classifier correctly identified 97.6% (81/84) as COVID-19 positive and 97.8% (91/93) as not SARS-CoV2 positive. The classifier labeled an additional 960 cases as not having SARS-CoV2 lab tests in hospital, and only 177 of those cases had the ICD-10 code for COVID-19., Discussion: Proxy dataset performance may be worse because these instances sometimes include discussion of pending lab tests. The most predictive features are meaningful and interpretable. The type of external test that was performed is rarely mentioned., Conclusion: COVID-19 cases that had testing done outside of the hospital can be reliably detected from the text in EHRs. Training on a proxy dataset was a suitable method for developing a highly performant classifier without labor-intensive labeling efforts., Competing Interests: None declared., (© The Author(s) 2023. Published by Oxford University Press on behalf of the American Medical Informatics Association.)

The Human Genome Variation Society (HGVS) nomenclature guidelines encourage the accurate and standard description of DNA, RNA, and protein sequence variants in public variant databases and the scientific literature. Inconsistent application of the HGVS guidelines can lead to misinterpretation of variants in clinical settings. Reliable software tools are essential to ensure consistent application of the HGVS guidelines when reporting and interpreting variants. We present the hgvs Python package, a comprehensive tool for manipulating sequence variants according to the HGVS nomenclature guidelines. Distinguishing features of the hgvs package include: (1) parsing, formatting, validating, and normalizing variants on genome, transcript, and protein sequences; (2) projecting variants between aligned sequences, including those with gapped alignments; (3) flexible installation using remote or local data (fully local installations eliminate network dependencies); (4) extensive automated tests; and (5) open source development by a community from eight organizations worldwide. This report summarizes recent and significant updates to the hgvs package since its original release in 2014, and presents results of extensive validation using clinical relevant variants from ClinVar and HGMD., (© 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc.)

Background: Physician notes routinely recorded during patient care represent a vast and underutilized resource for human disease studies on a population scale. Their use in research is primarily limited by the need to separate confidential patient information from clinical annotations, a process that is resource-intensive when performed manually. This study seeks to create an automated method for de-identifying physician notes that does not require large amounts of private information: in addition to training a model to recognize Protected Health Information (PHI) within private physician notes, we reverse the problem and train a model to recognize non-PHI words and phrases that appear in public medical texts., Methods: Public and private medical text sources were analyzed to distinguish common medical words and phrases from Protected Health Information. Patient identifiers are generally nouns and numbers that appear infrequently in medical literature. To quantify this relationship, term frequencies and part of speech tags were compared between journal publications and physician notes. Standard medical concepts and phrases were then examined across ten medical dictionaries. Lists and rules were included from the US census database and previously published studies. In total, 28 features were used to train decision tree classifiers., Results: The model successfully recalled 98% of PHI tokens from 220 discharge summaries. Cost sensitive classification was used to weight recall over precision (98% F10 score, 76% F1 score). More than half of the false negatives were the word "of" appearing in a hospital name. All patient names, phone numbers, and home addresses were at least partially redacted. Medical concepts such as "elevated white blood cell count" were informative for de-identification. The results exceed the previously approved criteria established by four Institutional Review Boards., Conclusions: The results indicate that distributional differences between private and public medical text can be used to accurately classify PHI. The data and algorithms reported here are made freely available for evaluation and improvement.

Objective: Registries are a well-established mechanism for obtaining high quality, disease-specific data, but are often highly project-specific in their design, implementation, and policies for data use. In contrast to the conventional model of centralized data contribution, warehousing, and control, we design a self-scaling registry technology for collaborative data sharing, based upon the widely adopted Integrating Biology & the Bedside (i2b2) data warehousing framework and the Shared Health Research Information Network (SHRINE) peer-to-peer networking software., Materials and Methods: Focusing our design around creation of a scalable solution for collaboration within multi-site disease registries, we leverage the i2b2 and SHRINE open source software to create a modular, ontology-based, federated infrastructure that provides research investigators full ownership and access to their contributed data while supporting permissioned yet robust data sharing. We accomplish these objectives via web services supporting peer-group overlays, group-aware data aggregation, and administrative functions., Results: The 56-site Childhood Arthritis & Rheumatology Research Alliance (CARRA) Registry and 3-site Harvard Inflammatory Bowel Diseases Longitudinal Data Repository now utilize i2b2 self-scaling registry technology (i2b2-SSR). This platform, extensible to federation of multiple projects within and between research networks, encompasses >6000 subjects at sites throughout the USA., Discussion: We utilize the i2b2-SSR platform to minimize technical barriers to collaboration while enabling fine-grained control over data sharing., Conclusions: The implementation of i2b2-SSR for the multi-site, multi-stakeholder CARRA Registry has established a digital infrastructure for community-driven research data sharing in pediatric rheumatology in the USA. We envision i2b2-SSR as a scalable, reusable solution facilitating interdisciplinary research across diseases.

Results of medical research studies are often contradictory or cannot be reproduced. One reason is that there may not be enough patient subjects available for observation for a long enough time period. Another reason is that patient populations may vary considerably with respect to geographic and demographic boundaries thus limiting how broadly the results apply. Even when similar patient populations are pooled together from multiple locations, differences in medical treatment and record systems can limit which outcome measures can be commonly analyzed. In total, these differences in medical research settings can lead to differing conclusions or can even prevent some studies from starting. We thus sought to create a patient research system that could aggregate as many patient observations as possible from a large number of hospitals in a uniform way. We call this system the 'Shared Health Research Information Network', with the following properties: (1) reuse electronic health data from everyday clinical care for research purposes, (2) respect patient privacy and hospital autonomy, (3) aggregate patient populations across many hospitals to achieve statistically significant sample sizes that can be validated independently of a single research setting, (4) harmonize the observation facts recorded at each institution such that queries can be made across many hospitals in parallel, (5) scale to regional and national collaborations. The purpose of this report is to provide open source software for multi-site clinical studies and to report on early uses of this application. At this time SHRINE implementations have been used for multi-site studies of autism co-morbidity, juvenile idiopathic arthritis, peripartum cardiomyopathy, colorectal cancer, diabetes, and others. The wide range of study objectives and growing adoption suggest that SHRINE may be applicable beyond the research uses and participating hospitals named in this report.

The authors developed a prototype Shared Health Research Information Network (SHRINE) to identify the technical, regulatory, and political challenges of creating a federated query tool for clinical data repositories. Separate Institutional Review Boards (IRBs) at Harvard's three largest affiliated health centers approved use of their data, and the Harvard Medical School IRB approved building a Query Aggregator Interface that can simultaneously send queries to each hospital and display aggregate counts of the number of matching patients. Our experience creating three local repositories using the open source Informatics for Integrating Biology and the Bedside (i2b2) platform can be used as a road map for other institutions. The authors are actively working with the IRBs and regulatory groups to develop procedures that will ultimately allow investigators to obtain identified patient data and biomaterials through SHRINE. This will guide us in creating a future technical architecture that is scalable to a national level, compliant with ethical guidelines, and protective of the interests of the participating hospitals.