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Potential impact of advanced clinical information technology on healthcare in 2015.

Clinical information technologies now sporadically available will soon be in routine clinical use, bringing many changes to healthcare. For example, 1) The next generation Internet; 2) Real-time clinical decision support systems; 3) Off-line, population-based systems; 4) Large, integrated, individual patient-level phenotypic and genotypic databases with intelligent data mining capabilities; 5) Wireless, invasive and non-invasive physiologic monitoring devices; 6) Natural Language Processing (NLP) systems; and 7) Mathematical models of complex biological systems have the potential to impact significantly the future healthcare delivery system. While new information management and communication techniques and technologies will reduce many of the inefficiencies and inaccuracies of our present systems, there will be an equal, and potentially far more dangerous, set of unintended consequences. Informatics investigators and health system administrators must focus on the study of what is working and what is not, as well as, on development and testing of the new clinical information management and communication technologies, if we are to be ready for the future.

Databases as Topic↗

Developing a test collection for biomedical word sense disambiguation.

Ambiguity, the phenomenon that a word has more than one sense, poses difficulties for many current Natural Language Processing (NLP) systems. Algorithms that assist in the resolution of these ambiguities, i.e. which make unambiguous a word, or more generally, a text string, will boost performance of these systems. To test such techniques in the biomedical language domain, we have developed a Word Sense Disambiguation (WSD) test collection that comprises 5,000 unambiguous instances for 50 ambiguous UMLS Metathesaurus strings.

Abstracting and Indexing↗

Detecting adverse events using information technology.

CONTEXT: Although patient safety is a major problem, most health care organizations rely on spontaneous reporting, which detects only a small minority of adverse events. As a result, problems with safety have remained hidden. Chart review can detect adverse events in research settings, but it is too expensive for routine use. Information technology techniques can detect some adverse events in a timely and cost-effective way, in some cases early enough to prevent patient harm. OBJECTIVE: To review methodologies of detecting adverse events using information technology, reports of studies that used these techniques to detect adverse events, and study results for specific types of adverse events. DESIGN: Structured review. METHODOLOGY: English-language studies that reported using information technology to detect adverse events were identified using standard techniques. Only studies that contained original data were included. MAIN OUTCOME MEASURES: Adverse events, with specific focus on nosocomial infections, adverse drug events, and injurious falls. RESULTS: Tools such as event monitoring and natural language processing can inexpensively detect certain types of adverse events in clinical databases. These approaches already work well for some types of adverse events, including adverse drug events and nosocomial infections, and are in routine use in a few hospitals. In addition, it appears likely that these techniques will be adaptable in ways that allow detection of a broad array of adverse events, especially as more medical information becomes computerized. CONCLUSION: Computerized detection of adverse events will soon be practical on a widespread basis.

Accidental Falls↗

The sublanguage of cross-coverage.

At Columbia-Presbyterian Medical Center, free-text "Signout" notes are typed into the electronic record by clinicians for the purpose of cross-coverage. We plan to "unlock" information about adverse events contained in these notes in a subsequent project using Natural Language Processing (NLP). To better understand the requirements for parsing, Signout notes were compared to other common medical notes (ambulatory clinic notes and discharge summaries) on a series of quantitative metrics. They are shorter (mean length 59.25 words vs. 144.11 and 340.85 for ambulatory and discharge notes respectively) and use more abbreviations (26.88% vs. 20.07% and 3.57%). Despite being terser, Signout notes use less ambiguous abbreviations (8.34% vs. 9.09% and 18.02%). Differences were found using Relative Entropy and Squared Chi-square Distance in a novel fashion to compare these medical corpora. Signout notes appear to constitute a unique sublanguage of medicine. The implications for parsing free-text cross-coverage notes into coded medical data are discussed.

Linguistics↗

Automated application of clinical practice guidelines for asthma management.

Clinical practice guidelines will be more beneficial when they are integrated with the electronic medical record. We applied natural language processing (NLP) techniques to extract clinical findings from outpatient progress notes in an attempt to: 1) select outpatient chart notes appropriate for evaluation against the National Heart, Lung, and Blood/National Asthma Education Program clinical practice guidelines for the diagnosis and management of asthma, 2) determine patient need for inhaled anti-inflammatory agents, and 3) quantify the severity of asthma. Our results were compared to judgements by an expert panel of practitioners. We were able to correctly identify the need for inhaled anti-inflammatory agents 76% of the time. The success of this pilot project could have broad implications for the application of clinical practice guidelines.

Administration, Inhalation↗

Visualizing information across multidimensional post-genomic structured and textual databases.

MOTIVATION: Visualizing relationships among biological information to facilitate understanding is crucial to biological research during the post-genomic era. Although different systems have been developed to view gene-phenotype relationships for specific databases, very few have been designed specifically as a general flexible tool for visualizing multidimensional genotypic and phenotypic information together. Our goal is to develop a method for visualizing multidimensional genotypic and phenotypic information and a model that unifies different biological databases in order to present the integrated knowledge using a uniform interface. RESULTS: We developed a novel, flexible and generalizable visualization tool, called PhenoGenesviewer (PGviewer), which in this paper was used to display gene-phenotype relationships from a human-curated database (OMIM) and from an automatic method using a Natural Language Processing tool called BioMedLEE. Data obtained from multiple databases were first integrated into a uniform structure and then organized by PGviewer. PGviewer provides a flexible query interface that allows dynamic selection and ordering of any desired dimension in the databases. Based on users' queries, results can be visualized using hierarchical expandable trees that present views specified by users according to their research interests. We believe that this method, which allows users to dynamically organize and visualize multiple dimensions, is a potentially powerful and promising tool that should substantially facilitate biological research. AVAILABILITY: PhenogenesViewer as well as its support and tutorial are available at http://www.dbmi.columbia.edu/pgviewer/ CONTACT: Lussier@dbmi.columbia.edu.

Computer Graphics↗

Automating SNOMED coding using medical language understanding: a feasibility study.

This paper evaluates qualitatively the use of the MedLEE natural language processing system to code medical narratives directly into the SNOMED nomenclature, while retaining the MedLEE information model data structure. A gold standard is produced from narrative text manually coded in SNOMED. An automated parsing and SNOMED-coding of the narrative text is then automatically generated by MedLEE. By comparing MedLEE s output to that of the Gold Standard, the capacities of SNOMED and MedLEE to represent the clinical information are subsequently evaluated leading to qualitative observations on their respective strengths and constraints. In this study, MedLEE did code to SNOMED and captures the codes in a sub-structure amenable to interoperability with the description logic of SNOMED RT, showing an approach that augments and formalizes SNOMED s compositional representation methods to accurately capture information from clinical narratives.

Feasibility Studies↗

Identification of related gene/protein names based on an HMM of name variations.

Gene and protein names follow few, if any, true naming conventions and are subject to great variation in different occurrences of the same name. This gives rise to two important problems in natural language processing. First, can one locate the names of genes or proteins in free text, and second, can one determine when two names denote the same gene or protein? The first of these problems is a special case of the problem of named entity recognition, while the second is a special case of the problem of automatic term recognition (ATR). We study the second problem, that of gene or protein name variation. Here we describe a system which, given a query gene or protein name, identifies related gene or protein names in a large list. The system is based on a dynamic programming algorithm for sequence alignment in which the mutation matrix is allowed to vary under the control of a fully trainable hidden Markov model.

Algorithms↗

PRIME: automatically extracted PRotein Interactions and Molecular Information databasE.

With the exponentially increasing amount of information in the biomedical field, the significance of advanced information retrieval and information extraction, as well as the role of databases, has been increasing. PRIME is an integrated gene/protein informatics database based on natural language processing. It provides automatically extracted protein/family/gene/compound interaction information including both physical and genetic interactions, gene ontology based functions, and graphic pathway viewers. Gene/protein/family names and functional terms are recognized based on dictionaries developed in our laboratory. The interaction and functional information are extracted by syntactic dependencies and various phrase patterns. We have included about 920,000 (non-redundant) protein interactions and 360,000 annotated gene-function relationships for major eukaryotes. By combining the sequence and text information, the pathway comparison between two organisms and simple pathway deduction based on other organism interaction data, and pathway filtering using tissue expression data, are also available. This database is accessible at http://prime.ontology.ims.u-tokyo.ac.jp:8081.

Abstracting and Indexing↗

Detecting possible vaccination reactions in clinical notes.

The Vaccine Safety Datalink is a collaboration between the CDC and eight large HMO's to investigate adverse events following immunization through analysis of medical care databases and patients' medical charts. We modified an existing system called MediClass that uses natural language processing (NLP) and knowledge-based methods to classify clinical encounters recorded in electronic medical records (EMRs). We developed the knowledge necessary for MediClass to detect possible vaccine reactions in the outpatient, ED, and telephone encounters recorded in the EMR of a large HMO. We first trained the system using a manually coded gold standard training set, and achieved high sensitivity and specificity. We then ran a large set of post-immunization encounter records through MediClass to see if our method would generalize. Compared to methods that use administrative and clinical codes assigned to the EMR by clinicians, the system significantly improves the positive predictive value for detecting possible vaccine reactions.

Adverse Drug Reaction Reporting Systems↗

Using text analysis to identify functionally coherent gene groups.

The analysis of large-scale genomic information (such as sequence data or expression patterns) frequently involves grouping genes on the basis of common experimental features. Often, as with gene expression clustering, there are too many groups to easily identify the functionally relevant ones. One valuable source of information about gene function is the published literature. We present a method, neighbor divergence, for assessing whether the genes within a group share a common biological function based on their associated scientific literature. The method uses statistical natural language processing techniques to interpret biological text. It requires only a corpus of documents relevant to the genes being studied (e.g., all genes in an organism) and an index connecting the documents to appropriate genes. Given a group of genes, neighbor divergence assigns a numerical score indicating how "functionally coherent" the gene group is from the perspective of the published literature. We evaluate our method by testing its ability to distinguish 19 known functional gene groups from 1900 randomly assembled groups. Neighbor divergence achieves 79% sensitivity at 100% specificity, comparing favorably to other tested methods. We also apply neighbor divergence to previously published gene expression clusters to assess its ability to recognize gene groups that had been manually identified as representative of a common function.

Algorithms↗

A knowledge model for analysis and simulation of regulatory networks.

MOTIVATION: In order to aid in hypothesis-driven experimental gene discovery, we are designing a computer application for the automatic retrieval of signal transduction data from electronic versions of scientific publications using natural language processing (NLP) techniques, as well as for visualizing and editing representations of regulatory systems. These systems describe both signal transduction and biochemical pathways within complex multicellular organisms, yeast, and bacteria. This computer application in turn requires the development of a domain-specific ontology, or knowledge model. RESULTS: We introduce an ontological model for the representation of biological knowledge related to regulatory networks in vertebrates. We outline a taxonomy of the concepts, define their 'whole-to-part' relationships, describe the properties of major concepts, and outline a set of the most important axioms. The ontology is partially realized in a computer system designed to aid researchers in biology and medicine in visualizing and editing a representation of a signal transduction system.

Animals↗

Automatic pathway building in biological association networks.

BACKGROUND: Scientific literature is a source of the most reliable and comprehensive knowledge about molecular interaction networks. Formalization of this knowledge is necessary for computational analysis and is achieved by automatic fact extraction using various text-mining algorithms. Most of these techniques suffer from high false positive rates and redundancy of the extracted information. The extracted facts form a large network with no pathways defined. RESULTS: We describe the methodology for automatic curation of Biological Association Networks (BANs) derived by a natural language processing technology called Medscan. The curated data is used for automatic pathway reconstruction. The algorithm for the reconstruction of signaling pathways is also described and validated by comparison with manually curated pathways and tissue-specific gene expression profiles. CONCLUSION: Biological Association Networks extracted by MedScan technology contain sufficient information for constructing thousands of mammalian signaling pathways for multiple tissues. The automatically curated MedScan data is adequate for automatic generation of good quality signaling networks. The automatically generated Regulome pathways and manually curated pathways used for their validation are available free in the ResNetCore database from Ariadne Genomics, Inc. 1. The pathways can be viewed and analyzed through the use of a free demo version of PathwayStudio software. The Medscan technology is also available for evaluation using the free demo version of PathwayStudio software.

Databases, Bibliographic↗

Linguistic analysis: terms and phrases used by patients in e-mail messages to nurses.

While some researchers are focusing on mapping free-text within health care fields into controlled vocabularies and classifications, many researchers are focusing on consumers' vocabularies. Using natural language processing (NLP) tools, such as MetaMap, to extract and map into terms in a controlled vocabulary is one way of understanding the pattern of terms used by lay people. Before an NLP tool can be effectively and efficiently used to extract concepts and create machine-understandable interpretations of the data, the appropriateness of the tool needs to be determined. This study aims were to determine the appropriateness of linguistic meaning captured for terms and phrases used by patients in electronic mail messages to nurses, using nursing-specific MetaMap output. Twenty messages were randomly selected from the 241 messages data set. Results indicated that four out of six nursing classification systems captured more than 50 % of the parsed word's linguistic meaning. This study demonstrates that it is possible to automatically extract and capture the linguistic meaning of the terms patients use in their electronic mail messages.

Electronic Mail↗

Use of the Extensible Stylesheet Language (XSL) for medical data transformation.

Recently, the Extensible Markup Language (XML) has received growing attention as a simple but flexible mechanism to represent medical data. As XML-based markups become more common there will be an increasing need to transform data stored in one XML markup into another markup. The Extensible Stylesheet Language (XSL) is a stylesheet language for XML. Development of a new mammography reporting system created a need to convert XML output from the MEDLee natural language processing system into a format suitable for cross-patient reporting. This paper examines the capability of XSL as a rule specification language that supports the medical XML data transformation. A set of nine relevant transformations was identified: Filtering, Substitution, Specification, Aggregation, Merging, Splitting, Transposition, Push-down and Pull-up. XSL-based methods for implementing these transformations are presented. The strengths and limitations of XSL are discussed in the context of XML medical data transformation.

Database Management Systems↗

MaSTerClass: a case-based reasoning system for the classification of biomedical terms.

MOTIVATION: The sheer volume of textually described biomedical knowledge exerts the need for natural language processing (NLP) applications in order to allow flexible and efficient access to relevant information. Specialized semantic networks (such as biomedical ontologies, terminologies or semantic lexicons) can significantly enhance these applications by supplying the necessary terminological information in a machine-readable form. With the explosive growth of bio-literature, new terms (representing newly identified concepts or variations of the existing terms) may not be explicitly described within the network and hence cannot be fully exploited by NLP applications. Linguistic and statistical clues can be used to extract many new terms from free text. The extracted terms still need to be correctly positioned relative to other terms in the network. Classification as a means of semantic typing represents the first step in updating a semantic network with new terms. RESULTS: The MaSTerClass system implements the case-based reasoning methodology for the classification of biomedical terms.

Abstracting and Indexing↗

Medical dictionaries for patient encoding systems: a methodology.

Medical language is highly compositional and makes extensive use of common roots, especially Latino-Greek roots. Besides words devoted to common sense, medical language presents some typical characteristics, especially on morphological and semantic aspects of word formation. Morphological decomposition and identification precedes semantic analysis. It is only when these two prerequisites are fulfilled that an attempt to grasp the meaning of a whole expression is made possible. The main aim of the proposed approach is that of coping with 'the lack of coverage of the medical lexical knowledge', in order to help physicians find the correct international classification for diseases (ICD) codes for a written diagnosis. The proposed methodology allows the development of a powerful dynamic dictionary dedicated to natural language processing in the field of diagnoses and narrative procedures. It describes the design of an analyser that can profit from a dictionary. The methods used have proved to be efficient for various classifications, s well as for multiple languages, as the system presently supports French, German, English and Dutch for ICD-9 and ICD-10 classifications.

Classification↗

An event model of medical information representation.

OBJECTIVE: Develop a model for structured and encoded representation of medical information that supports human review, decision support applications, ad hoc queries, statistical analysis, and natural-language processing. DESIGN: A medical information representation model was developed from manual and semiautomated analysis of patient data. The key assumption of the model is that medical information can be represented as a series of linked events. The event representation has two main components. The first component is a frame or template definition that specifies the attributes of the event. The second component is a structured vocabulary, the terms of which are taken as the values of the slots in the event template structure. Individual event instances are linked by specific named relationships. RESULTS: The proposed model was used to represent a chest-radiograph report. CONCLUSIONS: The event model of medical information representation provides a mechanism for formal definition of the logical structure of medical data and allows explicit time-oriented and associative relationships between event instances.

Computer Simulation↗