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Objective To provide high-quality data for coronavirus disease 2019 (COVID-19) research, we validated derived COVID-19 clinical indicators and 22 associated machine learning phenotypes, in the Mass General Brigham (MGB) COVID-19 Data Mart. Methods Fifteen reviewers performed a retrospective manual chart review for 150 COVID-19-positive patients in the data mart. To support rapid chart review for a wide range of target data, we offered a natural language processing (NLP)-based chart review tool, the Digital Analytic Patient Reviewer (DAPR). For this work, we designed a dedicated patient summary view and developed new 127 NLP logics to extract COVID-19 relevant medical concepts and target phenotypes. Moreover, we transformed DAPR for research purposes so that patient information is used for an approved research purpose only and enabled fast access to the integrated patient information. Lastly, we performed a survey to evaluate the validation difficulty and usefulness of the DAPR. Results The concepts for COVID-19-positive cohort, COVID-19 index date, COVID-19-related admission, and the admission date were shown to have high values in all evaluation metrics. However, three phenotypes showed notable performance degradation than the positive predictive value in the prepandemic population. Based on these results, we removed the three phenotypes from our data mart. In the survey about using the tool, participants expressed positive attitudes toward using DAPR for chart review. They assessed that the validation was easy and DAPR helped find relevant information. Some validation difficulties were also discussed. Conclusion Use of NLP technology in the chart review helped to cope with the challenges of the COVID-19 data validation task and accelerated the process. As a result, we could provide more reliable research data promptly and respond to the COVID-19 crisis. DAPR's benefit can be expanded to other domains. We plan to operationalize it for wider research groups.

Objective Integrating and harmonizing disparate patient data sources into one consolidated data portal enables researchers to conduct analysis efficiently and effectively. Materials and Methods We describe an implementation of Informatics for Integrating Biology and the Bedside (i2b2) to create the Mass General Brigham (MGB) Biobank Portal data repository. The repository integrates data from primary and curated data sources and is updated weekly. The data are made readily available to investigators in a data portal where they can easily construct and export customized datasets for analysis. Results As of July 2021, there are 125 645 consented patients enrolled in the MGB Biobank. 88 527 (70.5%) have a biospecimen, 55 121 (43.9%) have completed the health information survey, 43 552 (34.7%) have genomic data and 124 760 (99.3%) have EHR data. Twenty machine learning computed phenotypes are calculated on a weekly basis. There are currently 1220 active investigators who have run 58 793 patient queries and exported 10 257 analysis files. Discussion The Biobank Portal allows noninformatics researchers to conduct study feasibility by querying across many data sources and then extract data that are most useful to them for clinical studies. While institutions require substantial informatics resources to establish and maintain integrated data repositories, they yield significant research value to a wide range of investigators. Conclusion The Biobank Portal and other patient data portals that integrate complex and simple datasets enable diverse research use cases. i2b2 tools to implement these registries and make the data interoperable are open source and freely available.

We have developed an interface to serve patient data from Informatics for Integrating Biology and the Bedside (i2b2) repositories in the Fast Healthcare Interoperability Resources (FHIR) format, referred to as a SMART-on-FHIR cell. The cell serves FHIR resources on a per-patient basis, and supports the “substitutable” modular third-party applications (SMART) OAuth2 specification for authorization of client applications. It is implemented as an i2b2 server plug-in, consisting of 6 modules: authentication, REST, i2b2-to-FHIR converter, resource enrichment, query engine, and cache. The source code is freely available as open source. We tested the cell by accessing resources from a test i2b2 installation, demonstrating that a SMART app can be launched from the cell that accesses patient data stored in i2b2. We successfully retrieved demographics, medications, labs, and diagnoses for test patients. The SMART-on-FHIR cell will enable i2b2 sites to provide simplified but secure data access in FHIR format, and will spur innovation and interoperability. Further, it transforms i2b2 into an apps platform.

Objective Clinical data warehouses have accelerated clinical research, but even with available open source tools, there is a high barrier to entry due to the complexity of normalizing and importing data. The Office of the National Coordinator for Health Information Technology's Meaningful Use Incentive Program now requires that electronic health record systems produce standardized consolidated clinical document architecture (C-CDA) documents. Here, we leverage this data source to create a low volume standards based import pipeline for the Informatics for Integrating Biology and the Bedside (i2b2) clinical research platform. We validate this approach by creating a small repository at Partners Healthcare automatically from C-CDA documents. Materials and methods We designed an i2b2 extension to import C-CDAs into i2b2. It is extensible to other sites with variances in C-CDA format without requiring custom code. We also designed new ontology structures for querying the imported data. Results We implemented our methodology at Partners Healthcare, where we developed an adapter to retrieve C-CDAs from Enterprise Services. Our current implementation supports demographics, encounters, problems, and medications. We imported approximately 17 000 clinical observations on 145 patients into i2b2 in about 24 min. We were able to perform i2b2 cohort finding queries and view patient information through SMART apps on the imported data. Discussion This low volume import approach can serve small practices with local access to C-CDAs and will allow patient registries to import patient supplied C-CDAs. These components will soon be available open source on the i2b2 wiki. Conclusions Our approach will lower barriers to entry in implementing i2b2 where informatics expertise or data access are limited.

BackgroundThe Strategic Health IT Advanced Research Projects (SHARP) program seeks to conquer well-understood challenges in medical informatics through breakthrough research. Two SHARP centers have found alignment in their methodological needs: (1) members of the National Center for Cognitive Informatics and Decision-making (NCCD) have developed knowledge bases to support problem-oriented summarizations of patient data, and (2) Substitutable Medical Apps, Reusable Technologies (SMART), which is a platform for reusable medical apps that can run on participating platforms connected to various electronic health records (EHR). Combining the work of these two centers will ensure wide dissemination of new methods for synthesized views of patient data. Informatics for Integrating Biology and the Bedside (i2b2) is an NIH-funded clinical research data repository platform in use at over 100 sites worldwide. By also working with a co-occurring initiative to SMART-enabling i2b2, we can confidently write one app that can be used extremely broadly. ObjectiveOur goal was to facilitate development of intuitive, problem-oriented views of the patient record using NCCD knowledge bases that would run in any EHR. To do this, we developed a collaboration between the two SHARPs and an NIH center, i2b2. MethodsFirst, we implemented collaborative tools to connect researchers at three institutions. Next, we developed a patient summarization app using the SMART platform and a previously validated NCCD problem-medication linkage knowledge base derived from the National Drug File-Reference Terminology (NDF-RT). Finally, to SMART-enable i2b2, we implemented two new Web service “cells” that expose the SMART application programming interface (API), and we made changes to the Web interface of i2b2 to host a “carousel” of SMART apps. ResultsWe deployed our SMART-based, NDF-RT-derived patient summarization app in this SMART-i2b2 container. It displays a problem-oriented view of medications and presents a line-graph display of laboratory results. ConclusionsThis summarization app can be run in any EHR environment that either supports SMART or runs SMART-enabled i2b2. This i2b2 “clinical bridge” demonstrates a pathway for reusable app development that does not require EHR vendors to immediately adopt the SMART API. Apps can be developed in SMART and run by clinicians in the i2b2 repository, reusing clinical data extracted from EHRs. This may encourage the adoption of SMART by supporting SMART app development until EHRs adopt the platform. It also allows a new variety of clinical SMART apps, fueled by the broad aggregation of data types available in research repositories. The app (including its knowledge base) and SMART-i2b2 are open-source and freely available for download.

The Substitutable Medical Apps, Reusable Technologies (SMART) project provides a framework of core services to facilitate the use of substitutable health-related web applications. The platform offers a common interface used to “SMART-ready” health IT systems allowing any SMART application to be able to interact with those systems. At Partners Healthcare, we have SMART-enabled the Informatics for Integrating Biology and the Bedside (i2b2) open source analytical platform, enabling the use of SMART applications directly within the i2b2 web client. In i2b2, viewing the patient in an EMR-like view enables a natural-feeling medical review process for each patient.

We have designed a Biobank Portal that lets researchers request Biobank samples and genotypic data, query associated electronic health records, and design and download datasets containing de-identified attributes about consented Biobank subjects. This do-it-yourself functionality puts a wide variety and volume of data at the fingertips of investigators, allowing them to create custom datasets for their clinical and genomic research from complex phenotypic data and quickly obtain corresponding samples and genomic data. The Biobank Portal is built upon the i2b2 infrastructure [1] and uses an open-source web client that is available to faculty members and other investigators behind an institutional firewall. Built-in privacy measures [2] ensure that the data in the Portal are utilized only according to the processes to which the patients have given consent.

Objectives Use electronic health records Autism Spectrum Disorder (ASD) to assess the comorbidity burden of ASD in children and young adults. Study Design A retrospective prevalence study was performed using a distributed query system across three general hospitals and one pediatric hospital. Over 14,000 individuals under age 35 with ASD were characterized by their co-morbidities and conversely, the prevalence of ASD within these comorbidities was measured. The comorbidity prevalence of the younger (Age