Cimino, James J.

Abstract Objective The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled “Developing a Clinical Genomic Informatics Research Agenda”. The meeting’s goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings. Materials and Methods Experts from government agencies, the private sector, and academia in genomic medicine and clinical informatics were invited to address the meeting's goals. Invitees were also asked to complete a survey to assess important considerations needed to develop a genomic-based clinical informatics research strategy. Results Outcomes from the meeting included identifying short-term research needs, such as designing and implementing standards-based interfaces between laboratory information systems and electronic health records, as well as long-term projects, such as identifying and addressing barriers related to the establishment and implementation of genomic data exchange systems that, in turn, the research community could help address. Discussion Discussions centered on identifying gaps and barriers that impede the use of GCIT in genomic medicine. Emergent themes from the meeting included developing an implementation science framework, defining a value proposition for all stakeholders, fostering engagement with patients and partners to develop applications under patient control, promoting the use of relevant clinical workflows in research, and lowering related barriers to regulatory processes. Another key theme was recognizing pervasive biases in data and information systems, algorithms, access, value, and knowledge repositories and identifying ways to resolve them.

AbstractObjectiveThe study sought to describe the literature related to the development of methods for auditing the Unified Medical Language System (UMLS), with particular attention to identifying errors and inconsistencies of attributes of the concepts in the UMLS Metathesaurus.Materials and MethodsWe applied the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) approach by searching the MEDLINE database and Google Scholar for studies referencing the UMLS and any of several terms related to auditing, error detection, and quality assurance. A qualitative analysis and summarization of articles that met inclusion criteria were performed.ResultsEighty-three studies were reviewed in detail. We first categorized techniques based on various aspects including concepts, concept names, and synonymy (n = 37), semantic type assignments (n = 36), hierarchical relationships (n = 24), lateral relationships (n = 12), ontology enrichment (n = 8), and ontology alignment (n = 18). We also categorized the methods according to their level of automation (ie, automated systematic, automated heuristic, or manual) and the type of knowledge used (ie, intrinsic or extrinsic knowledge).ConclusionsThis study is a comprehensive review of the published methods for auditing the various conceptual aspects of the UMLS. Categorizing the auditing techniques according to the various aspects will enable the curators of the UMLS as well as researchers comprehensive easy access to this wealth of knowledge (eg, for auditing lateral relationships in the UMLS). We also reviewed ontology enrichment and alignment techniques due to their critical use of and impact on the UMLS.

Objective: Infobuttons appear as small icons adjacent to electronic health record (EHR) data (e.g., medications, diagnoses, or test results) that, when clicked, access online knowledge resources tailored to the patient, care setting, or task. Infobuttons are required for “Meaningful Use” certification of US EHRs. We sought to evaluate infobuttons’ impact on clinical practice and identify features associated with improved outcomes. Methods: We conducted a systematic review, searching MEDLINE, EMBASE, and other databases from inception to July 6, 2015. We included and cataloged all original research in any language describing implementation of infobuttons or other context-sensitive links. Studies evaluating clinical implementations with outcomes of usage or impact were reviewed in greater detail. Reviewers worked in duplicate to select articles, evaluate quality, and abstract information. Results: Of 599 potential articles, 77 described infobutton implementation. The 17 studies meriting detailed review, including 3 randomized trials, yielded the following findings. Infobutton usage frequency ranged from 0.3 to 7.4 uses per month per potential user. Usage appeared to be influenced by EHR task. Five studies found that infobuttons are used less often than non–context-sensitive links (proportionate usage 0.20–0.34). In 3 studies, users answered their clinical question in > 69% of infobutton sessions. Seven studies evaluated alternative approaches to infobutton design and implementation. No studies isolated the impact of infobuttons on objectively measured patient outcomes. Conclusions: Weak evidence suggests that infobuttons can help providers answer clinical questions. Research on optimal infobutton design and implementation, and on the impact on patient outcomes and provider behaviors, is needed.