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INTRODUCTION: The use and interoperability of clinical knowledge starts with the quality of the formalism utilized to express medical expertise. However, a crucial challenge is that existing formalisms are often suboptimal, lacking the fidelity to represent complex knowledge thoroughly and concisely. Often this leads to difficulties when seeking to unambiguously capture, share, and implement the knowledge for care improvement in clinical information systems used by providers and patients. OBJECTIVES: To provide a systematic method to address some of the complexities of knowledge composition and interoperability related to standards-based representational formalisms of medical knowledge. METHODS: Several cross-industry (Healthcare, Linguistics, System Engineering, Standards Development, and Knowledge Engineering) frameworks were synthesized into a proposed reference knowledge framework. The framework utilizes IEEE 42010, the MetaObject Facility, the Semantic Triangle, an Ontology Framework, and the Domain and Comprehensibility Appropriateness criteria. The steps taken were: 1) identify foundational cross-industry frameworks, 2) select architecture description method, 3) define life cycle viewpoints, 4) define representation and knowledge viewpoints, 5) define relationships between neighboring viewpoints, and 6) establish characteristic definitions of the relationships between components. System engineering principles applied included separation of concerns, cohesion, and loose coupling. RESULTS: A "Multilayer Metamodel for Representation and Knowledge" (M*R/K) reference framework was defined. It provides a standard vocabulary for organizing and articulating medical knowledge curation perspectives, concepts, and relationships across the artifacts created during the life cycle of language creation, authoring medical knowledge, and knowledge implementation in clinical information systems such as electronic health records (EHR). CONCLUSION: M*R/K provides a systematic means to address some of the complexities of knowledge composition and interoperability related to medical knowledge representations used in diverse standards. The framework may be used to guide the development, assessment, and coordinated use of knowledge representation formalisms. M*R/K could promote the alignment and aggregated use of distinct domain-specific languages in composite knowledge artifacts such as clinical practice guidelines (CPGs).

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INTRODUCTION: Computable biomedical knowledge artifacts (CBKs) are digital objects conveying biomedical knowledge in machine-interpretable structures. As more CBKs are produced and their complexity increases, the value obtained from sharing CBKs grows. Mobilizing CBKs and sharing them widely can only be achieved if the CBKs are findable, accessible, interoperable, reusable, and trustable (FAIR+T). To help mobilize CBKs, we describe our efforts to outline metadata categories to make CBKs FAIR+T. METHODS: We examined the literature regarding metadata with the potential to make digital artifacts FAIR+T. We also examined metadata available online today for actual CBKs of 12 different types. With iterative refinement, we came to a consensus on key categories of metadata that, when taken together, can make CBKs FAIR+T. We use subject-predicate-object triples to more clearly differentiate metadata categories. RESULTS: We defined 13 categories of CBK metadata most relevant to making CBKs FAIR+T. Eleven of these categories (type, domain, purpose, identification, location, CBK-to-CBK relationships, technical, authorization and rights management, provenance, evidential basis, and evidence from use metadata) are evident today where CBKs are stored online. Two additional categories (preservation and integrity metadata) were not evident in our examples. We provide a research agenda to guide further study and development of these and other metadata categories. CONCLUSION: A wide variety of metadata elements in various categories is needed to make CBKs FAIR+T. More work is needed to develop a common framework for CBK metadata that can make CBKs FAIR+T for all stakeholders.

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BACKGROUND: Consent2Share (C2S) is an open source software created by the Office of the National Coordinator Data Segmentation for Privacy initiative to support electronic health record (EHR) granular segmentation. To date, there are no published formal evaluations of Consent2Share. METHOD: Structured data (e.g. medications) codified using standard clinical terminologies (e.g. RxNorm) was extracted from the EHR of 36 patients with behavioral health conditions from study sites. EHRs were available through a health information exchange and two sites. The EHR data was already classified into data types (e.g. procedures and services). Both Consent2Share and health providers classified EHR data based on value sets (e.g. mental health) and sensitivity (e.g. not sensitive. Descriptive statistics and Chi-square analysis were used to compare differences between data categorizations. RESULTS: From the resulting 1,080 medical records items, 584 were distinct. Significant differences were found between sensitivity classifications by Consent2Share and providers (χ2 (2, N = 584) = 114.74, p = <0.0001). Sensitivity comparisons led to 56.0 % of agreements, 31.2 % disagreements, and 12.8 % partial agreements. Most (97.8 %) disagreements resulted from information classified as not sensitive by Consent2Share, but sensitive by provider (e.g. behavioral health prevention education service). In terms of data types, most disagreements (57.1 %) focused on procedures and services information (e.g. ligation of fallopian tube). When considering value sets, most disagreements focused on genetic data (100.0 %), followed by sexual and reproductive health (88.9 %). CONCLUSIONS: There is a need to further validate Consent2Share before broad use in health care settings. The outcomes from this pilot study will help guide improvements in segmentation logic of tools like Consent2Share and may set the stage for a new generation of personalized consent engines.

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Pharmacogenomics (PGx) guidelines contain drug-gene relationships, therapeutic and clinical recommendations from which clinical decision support (CDS) rules can be extracted, rendered and then delivered through clinical decision support systems (CDSS) to provide clinicians with just-in-time information at the point of care. Several tools exist that can be used to generate CDS rules that are based on computer interpretable guidelines (CIG), but none have been previously applied to the PGx domain. We utilized the Unified Modeling Language (UML), the Health Level 7 virtual medical record (HL7 vMR) model, and standard terminologies to represent the semantics and decision logic derived from a PGx guideline, which were then mapped to the Health eDecisions (HeD) schema. The modeling and extraction processes developed here demonstrate how structured knowledge representations can be used to support the creation of shareable CDS rules from PGx guidelines.

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With increasing adoption of electronic health records (EHRs), the need for formal representations for EHR-driven phenotyping algorithms has been recognized for some time. The recently proposed Quality Data Model from the National Quality Forum (NQF) provides an information model and a grammar that is intended to represent data collected during routine clinical care in EHRs as well as the basic logic required to represent the algorithmic criteria for phenotype definitions. The QDM is further aligned with Meaningful Use standards to ensure that the clinical data and algorithmic criteria are represented in a consistent, unambiguous and reproducible manner. However, phenotype definitions represented in QDM, while structured, cannot be executed readily on existing EHRs. Rather, human interpretation, and subsequent implementation is a required step for this process. To address this need, the current study investigates open-source JBoss® Drools rules engine for automatic translation of QDM criteria into rules for execution over EHR data. In particular, using Apache Foundation's Unstructured Information Management Architecture (UIMA) platform, we developed a translator tool for converting QDM defined phenotyping algorithm criteria into executable Drools rules scripts, and demonstrated their execution on real patient data from Mayo Clinic to identify cases for Coronary Artery Disease and Diabetes. To the best of our knowledge, this is the first study illustrating a framework and an approach for executing phenotyping criteria modeled in QDM using the Drools business rules management system.

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