Making Science Computable Using Evidence-Based Medicine on Fast Healthcare Interoperability Resources: Standards Development Project.

BACKGROUND: Evidence-based medicine (EBM) has the potential to improve health outcomes, but EBM has not been widely integrated into the systems used for research or clinical decision-making. There has not been a scalable and reusable computer-readable standard for distributing research results and synthesized evidence among creators, implementers, and the ultimate users of that evidence. Evidence that is more rapidly updated, synthesized, disseminated, and implemented would improve both the delivery of EBM and evidence-based health care policy. OBJECTIVE: This study aimed to introduce the EBM on Fast Healthcare Interoperability Resources (FHIR) project (EBMonFHIR), which is extending the methods and infrastructure of Health Level Seven (HL7) FHIR to provide an interoperability standard for the electronic exchange of health-related scientific knowledge. METHODS: As an ongoing process, the project creates and refines FHIR resources to represent evidence from clinical studies and syntheses of those studies and develops tools to assist with the creation and visualization of FHIR resources. RESULTS: The EBMonFHIR project created FHIR resources (ie, ArtifactAssessment, Citation, Evidence, EvidenceReport, and EvidenceVariable) for representing evidence. The COVID-19 Knowledge Accelerator (COKA) project, now Health Evidence Knowledge Accelerator (HEvKA), took this work further and created FHIR resources that express EvidenceReport, Citation, and ArtifactAssessment concepts. The group is (1) continually refining FHIR resources to support the representation of EBM; (2) developing controlled terminology related to EBM (ie, study design, statistic type, statistical model, and risk of bias); and (3) developing tools to facilitate the visualization and data entry of EBM information into FHIR resources, including human-readable interfaces and JSON viewers. CONCLUSIONS: EBMonFHIR resources in conjunction with other FHIR resources can support relaying EBM components in a manner that is interoperable and consumable by downstream tools and health information technology systems to support the users of evidence.

[Interoperability Working Group: core dataset and information systems for data integration and data exchange in the Medical Informatics Initiative]. / Arbeitsgruppe Interoperabilität: Kerndatensatz und Informationssysteme für Integration und Austausch von Daten in der Medizininformatik-Initiative.

The interoperability Working Group of the Medical Informatics Initiative (MII) is the platform for the coordination of overarching procedures, data structures, and interfaces between the data integration centers (DIC) of the university hospitals and national and international interoperability committees. The goal is the joint content-related and technical design of a distributed infrastructure for the secondary use of healthcare data that can be used via the Research Data Portal for Health. Important general conditions are data privacy and IT security for the use of health data in biomedical research. To this end, suitable methods are used in dedicated task forces to enable procedural, syntactic, and semantic interoperability for data use projects. The MII core dataset was developed as several modules with corresponding information models and implemented using the HL7® FHIR® standard to enable content-related and technical specifications for the interoperable provision of healthcare data through the DIC. International terminologies and consented metadata are used to describe these data in more detail. The overall architecture, including overarching interfaces, implements the methodological and legal requirements for a distributed data use infrastructure, for example, by providing pseudonymized data or by federated analyses. With these results of the Interoperability Working Group, the MII is presenting a future-oriented solution for the exchange and use of healthcare data, the applicability of which goes beyond the purpose of research and can play an essential role in the digital transformation of the healthcare system.

Integrating Genomics and Clinical Data for Statistical Analysis by Using GEnome MINIng (GEMINI) and Fast Healthcare Interoperability Resources (FHIR): System Design and Implementation.

BACKGROUND: The introduction of next-generation sequencing (NGS) into molecular cancer diagnostics has led to an increase in the data available for the identification and evaluation of driver mutations and for defining personalized cancer treatment regimens. The meaningful combination of omics data, ie, pathogenic gene variants and alterations with other patient data, to understand the full picture of malignancy has been challenging. OBJECTIVE: This study describes the implementation of a system capable of processing, analyzing, and subsequently combining NGS data with other clinical patient data for analysis within and across institutions. METHODS: On the basis of the already existing NGS analysis workflows for the identification of malignant gene variants at the Institute of Pathology of the University Hospital Erlangen, we defined basic requirements on an NGS processing and analysis pipeline and implemented a pipeline based on the GEMINI (GEnome MINIng) open source genetic variation database. For the purpose of validation, this pipeline was applied to data from the 1000 Genomes Project and subsequently to NGS data derived from 206 patients of a local hospital. We further integrated the pipeline into existing structures of data integration centers at the University Hospital Erlangen and combined NGS data with local nongenomic patient-derived data available in Fast Healthcare Interoperability Resources format. RESULTS: Using data from the 1000 Genomes Project and from the patient cohort as input, the implemented system produced the same results as already established methodologies. Further, it satisfied all our identified requirements and was successfully integrated into the existing infrastructure. Finally, we showed in an exemplary analysis how the data could be quickly loaded into and analyzed in KETOS, a web-based analysis platform for statistical analysis and clinical decision support. CONCLUSIONS: This study demonstrates that the GEMINI open source database can be augmented to create an NGS analysis pipeline. The pipeline generates high-quality results consistent with the already established workflows for gene variant annotation and pathological evaluation. We further demonstrate how NGS-derived genomic and other clinical data can be combined for further statistical analysis, thereby providing for data integration using standardized vocabularies and methods. Finally, we demonstrate the feasibility of the pipeline integration into hospital workflows by providing an exemplary integration into the data integration center infrastructure, which is currently being established across Germany.

FHIR PIT: an open software application for spatiotemporal integration of clinical data and environmental exposures data.

BACKGROUND: Informatics tools to support the integration and subsequent interrogation of spatiotemporal data such as clinical data and environmental exposures data are lacking. Such tools are needed to support research in environmental health and any biomedical field that is challenged by the need for integrated spatiotemporal data to examine individual-level determinants of health and disease. RESULTS: We have developed an open-source software application-FHIR PIT (Health Level 7 Fast Healthcare Interoperability Resources Patient data Integration Tool)-to enable studies on the impact of individual-level environmental exposures on health and disease. FHIR PIT was motivated by the need to integrate patient data derived from our institution's clinical warehouse with a variety of public data sources on environmental exposures and then openly expose the data via ICEES (Integrated Clinical and Environmental Exposures Service). FHIR PIT consists of transformation steps or building blocks that can be chained together to form a transformation and integration workflow. Several transformation steps are generic and thus can be reused. As such, new types of data can be incorporated into the modular FHIR PIT pipeline by simply reusing generic steps or adding new ones. We validated FHIR PIT in the context of a driving use case designed to investigate the impact of airborne pollutant exposures on asthma. Specifically, we replicated published findings demonstrating racial disparities in the impact of airborne pollutants on asthma exacerbations. CONCLUSIONS: While FHIR PIT was developed to support our driving use case on asthma, the software can be used to integrate any type and number of spatiotemporal data sources at a level of granularity that enables individual-level study. We expect FHIR PIT to facilitate research in environmental health and numerous other biomedical disciplines.

Semantic data interoperability, digital medicine, and e-health in infectious disease management: a review.

Disease management requires the use of mixed languages when discussing etiology, diagnosis, treatment, and follow-up. All phases require data management, and, in the optimal case, such data are interdisciplinary and uniform and clear to all those involved. Such semantic data interoperability is one of the technical building blocks that support emerging digital medicine, e-health, and P4-medicine (predictive, preventive, personalized, and participatory). In a world where infectious diseases are on a trend to become hard-to-treat threats due to antimicrobial resistance, semantic data interoperability is part of the toolbox to fight more efficiently against those threats. In this review, we will introduce semantic data interoperability, summarize its added value, and analyze the technical foundation supporting the standardized healthcare system interoperability that will allow moving forward to e-health. We will also review current usage of those foundational standards and advocate for their uptake by all infectious disease-related actors.

Primary health information standard system based on semantic interoperability.

BACKGROUND: To realize semantic interoperability for Primary Health Information System (PHIS), this study analyzes and applies existing health information data standards in China. This research aims to establish a Primary Health Information Standard System (PHISS), and achieve the semantic level interoperability and application of primary health information. METHODS: First, the PHISS in accordance with the structural standards of national information standards system in China was constructed. Second, application of semantic interoperability level with reference to the interoperability model was standardized. Thirdly, referring to the data element model, PHIS data element dictionary with good interoperability is developed by standardizing data element attributes of identifiers, names, definitions and permissible value. Fourthly, based on PHIS data element dictionary, PHIS dataset is developed following the relevant rules for health information datasets. RESULTS: PHISS is composed of basic class standards, data class standards, technical class standards, security and privacy class standards, management class standards. In this study, we reorganized the data class standards that meet the requirements of PHIS, also develops and adds PHIS data element, PHIS data element dictionary and PHIS dataset. PHIS data element dictionary includes 16 parts and PHIS dataset includes 22 parts, which satisfies the data standardization requirements of PHIS. CONCLUSIONS: The establishment of the PHISS can meet the needs for the interconnection of the residents' basic health service information and realize the semantic level interoperability of various information services. The key steps of this method are based on semantic interoperability. Relevant data elements and datasets with semantic interoperability are selected. Moreover, an information standard system is constructed, and the information standardization requirements of the PHIS are met.

Data Quality in Rare Diseases Registries.

In the field of rare diseases, registries are considered power tool to develop clinical research, to facilitate the planning of appropriate clinical trials, to improve patient care and healthcare planning. Therefore high quality data of rare diseases registries is considered to be one of the most important element in the establishment and maintenance of a registry. Data quality can be defined as the totality of features and characteristics of data set that bear on its ability to satisfy the needs that result from the intended use of the data. In the context of registries, the 'product' is data, and quality refers to data quality, meaning that the data coming into the registry have been validated, and ready for use for analysis and research. Determining the quality of data is possible through data assessment against a number of dimensions: completeness, validity; coherence and comparability; accessibility; usefulness; timeliness; prevention of duplicate records. Many others factors may influence the quality of a registry: development of standardized Case Report Form and security/safety controls of informatics infrastructure. With the growing number of rare diseases registries being established, there is a need to develop a quality validation process to evaluate the quality of each registry. A clear description of the registry is the first step when assessing data quality or the registry evaluation system. Here we report a template as a guide for helping registry owners to describe their registry.

Preparing Data at the Source to Foster Interoperability across Rare Disease Resources.

The ability to combine heterogeneous data distributed across the globe is critically important to boost research on rare diseases, but it presents a number of methodological, representational and automation challenges. In this scenario, biomedical ontologies are of critical importance for enabling computers to aid in information retrieval and analysis across data collections.This chapter presents an approach to preparing rare disease data for integration through the application of a global standard for computer-readable data and knowledge. This includes the use of common data elements, ontological codes and computer-readable data. This approach was developed under a number of domain-relevant requirements, such as controlled access to data, independence of the original sources, and the desire to combining the data sources with other computational workflows and data platforms.

The development of a nursing subset of patient problems to support interoperability.

BACKGROUND: Since the emergence of electronic health records, nursing information is increasingly being recorded and stored digitally. Several studies have shown that a wide range of nursing information is not interoperable and cannot be re-used in different health contexts. Difficulties arise when nurses share information with others involved in the delivery of nursing care. The aim of this study is to develop a nursing subset of patient problems that are prevalent in nursing practice, based on the SNOMED CT terminology to assist in the exchange and comparability of nursing information. METHODS: Explorative qualitative focus groups were used to collect data. Mixed focus groups were defined. Additionally, a nursing researcher and a nursing expert with knowledge of terminologies and a terminologist participated in each focus group. The participants, who work in a range of practical contexts, discussed and reviewed patient problems from various perspectives. RESULTS: Sixty-seven participants divided over seven focus groups selected and defined 119 patient problems. Each patient problem could be documented and coded with a current status or an at-risk status. Sixty-six percent of the patient problems included are covered by the definitions established by the International Classification of Nursing Practice, the reference terminology for nursing practice. For the remainder, definitions from either an official national guideline or a classification were used. Each of the 119 patient problems has a unique SNOMED CT identifier. CONCLUSIONS: To support the interoperability of nursing information, a national nursing subset of patient problems based on a terminology (SNOMED CT) has been developed. Using unambiguously defined patient problems is beneficial for clinical nursing practice, because nurses can then compare and exchange information from different settings. A key strength of this study is that nurses were extensively involved in the development process. Further research is required to link or associate nursing patient problems to concepts from a nursing classification with the same meaning.

A Fast Healthcare Interoperability Resources (FHIR) layer implemented over i2b2.

BACKGROUND: Standards and technical specifications have been developed to define how the information contained in Electronic Health Records (EHRs) should be structured, semantically described, and communicated. Current trends rely on differentiating the representation of data instances from the definition of clinical information models. The dual model approach, which combines a reference model (RM) and a clinical information model (CIM), sets in practice this software design pattern. The most recent initiative, proposed by HL7, is called Fast Health Interoperability Resources (FHIR). The aim of our study was to investigate the feasibility of applying the FHIR standard to modeling and exposing EHR data of the Georges Pompidou European Hospital (HEGP) integrating biology and the bedside (i2b2) clinical data warehouse (CDW). RESULTS: We implemented a FHIR server over i2b2 to expose EHR data in relation with five FHIR resources: DiagnosisReport, MedicationOrder, Patient, Encounter, and Medication. The architecture of the server combines a Data Access Object design pattern and FHIR resource providers, implemented using the Java HAPI FHIR API. Two types of queries were tested: query type #1 requests the server to display DiagnosticReport resources, for which the diagnosis code is equal to a given ICD-10 code. A total of 80 DiagnosticReport resources, corresponding to 36 patients, were displayed. Query type #2, requests the server to display MedicationOrder, for which the FHIR Medication identification code is equal to a given code expressed in a French coding system. A total of 503 MedicationOrder resources, corresponding to 290 patients, were displayed. Results were validated by manually comparing the results of each request to the results displayed by an ad-hoc SQL query. CONCLUSION: We showed the feasibility of implementing a Java layer over the i2b2 database model to expose data of the CDW as a set of FHIR resources. An important part of this work was the structural and semantic mapping between the i2b2 model and the FHIR RM. To accomplish this, developers must manually browse the specifications of the FHIR standard. Our source code is freely available and can be adapted for use in other i2b2 sites.

Interoperability in a Post-Roe Era: Sustaining Progress While Protecting Reproductive Health Information.

This Viewpoint proposes a solution to better safeguard reproductive health information in patient records that are now more complete owing to the interoperability of health information exchange networks.

Dual Implementation Guides in FHIR and CDA.

BACKGROUND: The Fast Healthcare Interoperability Resources (FHIR) and Clinical Document Architecture (CDA) are standards for the healthcare industry, designed to improve the exchange of health data by interoperability. Both standards are constrained through what are known as Implementation Guides (IG) for specific use. OBJECTIVES: Both of these two standards are widely in use and play an important role in the Austrian healthcare system. Concepts existing in CDA and FHIR must be aligned between both standards. METHODS: Many existing approaches are presented and discussed, none are fully suited to the needs in Austria. RESULTS: The IG Publisher has already been used for CDA IGs, beside of its intended FHIR support, but never for both in one IG. Even the International Patient Summary (IPS), existing as CDA and FHIR specification, does not solve the needed comparability between these two. CONCLUSION: As the IG Publisher is widely used and supports CDA, it should be used for Dual Implementation Guides. Further work and extension of IG Publisher is necessary to enhance the readability of the resulting IGs.

Maturity assessment of Kenya's health information system interoperability readiness.

BACKGROUND: The use of digital technology in healthcare promises to improve quality of care and reduce costs over time. This promise will be difficult to attain without interoperability: facilitating seamless health information exchange between the deployed digital health information systems (HIS). OBJECTIVE: To determine the maturity readiness of the interoperability capacity of Kenya's HIS. METHODS: We used the HIS Interoperability Maturity Toolkit, developed by MEASURE Evaluation and the Health Data Collaborative's Digital Health and Interoperability Working Group. The assessment was undertaken by eHealth stakeholder representatives primarily from the Ministry of Health's Digital Health Technical Working Group. The toolkit focused on three major domains: leadership and governance, human resources and technology. RESULTS: Most domains are at the lowest two levels of maturity: nascent or emerging. At the nascent level, HIS activities happen by chance or represent isolated, ad hoc efforts. An emerging maturity level characterises a system with defined HIS processes and structures. However, such processes are not systematically documented and lack ongoing monitoring mechanisms. CONCLUSION: None of the domains had a maturity level greater than level 2 (emerging). The subdomains of governance structures for HIS, defined national enterprise architecture for HIS, defined technical standards for data exchange, nationwide communication network infrastructure, and capacity for operations and maintenance of hardware attained higher maturity levels. These findings are similar to those from interoperability maturity assessments done in Ghana and Uganda.

What do users think of the UK's three COVID-19 contact-tracing apps? A comparative analysis.

OBJECTIVES: Our goal was to gain insights into the user reviews of the three COVID-19 contact-tracing mobile apps, developed for the different regions of the UK: 'NHS COVID-19' for England and Wales, 'StopCOVID NI' for Northern Ireland and 'Protect Scotland' for Scotland. Our two research questions are (1) what are the users' experience and satisfaction levels with the three apps? and (2) what are the main issues (problems) that users have reported about the apps? METHODS: We assess the popularity of the apps and end users' perceptions based on user reviews in app stores. We conduct three types of analysis (data mining, sentiment analysis and topic modelling) to derive insights from the combined set of 25 583 user reviews of the aforementioned three apps (submitted by users until the end of 2020). RESULTS: Results show that end users have been generally dissatisfied with the apps under study, except the Scottish app. Some of the major issues that users have reported are high battery drainage and doubts on whether apps are really working. DISCUSSION: Towards the end of 2020, the much-awaited COVID-19 vaccines started to be available, but still, analysing the users' feedback and technical issues of these apps, in retrospective, is valuable to learn the right lessons to be ready for similar circumstances in future. CONCLUSION: Our results show that more work is needed by the stakeholders behind the apps (eg, apps' software engineering teams, public-health experts and decision makers) to improve the software quality and, as a result, the public adoption of these apps. For example, they should be designed to be as simple as possible to operate (need for usability).

New Standards for Clinical Decision Support: A Survey of The State of Implementation.

OBJECTIVES: To review the current state of research on designing and implementing clinical decision support (CDS) using four current interoperability standards: Fast Healthcare Interoperability Resources (FHIR); Substitutable Medical Applications and Reusable Technologies (SMART); Clinical Quality Language (CQL); and CDS Hooks. METHODS: We conducted a review of original studies describing development of specific CDS tools or infrastructures using one of the four targeted standards, regardless of implementation stage. Citations published any time before the literature search was executed on October 21, 2020 were retrieved from PubMed. Two reviewers independently screened articles and abstracted data according to a protocol designed by team consensus. RESULTS: Of 290 articles identified via PubMed search, 44 were included in this study. More than three quarters were published since 2018. Forty-three (98%) used FHIR; 22 (50%) used SMART; two (5%) used CQL; and eight (18%) used CDS Hooks. Twenty-four (55%) were in the design stage, 15 (34%) in the piloting stage, and five (11%) were deployed in a real-world setting. Only 12 (27%) of the articles reported an evaluation of the technology under development. Three of the four articles describing a deployed technology reported an evaluation. Only two evaluations with randomized study components were identified. CONCLUSION: The diversity of topics and approaches identified in the literature highlights the utility of these standards. The infrequency of reported evaluations, as well as the high number of studies in the design or piloting stage, indicate that these technologies are still early in their life cycles. Informaticists will require a stronger evidence base to understand the implications of using these standards in CDS design and implementation.