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Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models.

PURPOSE: The value of genetic information for improving the performance of clinical risk prediction models has yielded variable conclusions. Many methodological decisions have the potential to contribute to differential results. We performed multiple modeling experiments integrating clinical and demographic data from electronic health records with genetic data to understand which decisions may affect performance. METHODS: Clinical data in the form of structured diagnostic codes, medications, procedural codes, and demographics were extracted from 2 large independent health systems, and polygenic risk scores (PRS) were generated across all patients of European ancestry with genetic data in the corresponding biobanks. Crohn's disease was studied based on its substantial genetic component, established electronic health records-based definition, and sufficient prevalence for training and testing. We investigated the impact of choices regarding the PRS integration method, training sample, model complexity, and performance metrics. RESULTS: Overall, our results showed that including PRS resulted in higher performance, but this gain was only robust in situations with limited clinical information. We found consistent performance increases from more compute-intensive models, such as random forest, but the impact of other decisions varied by site. CONCLUSION: This work highlights the importance of considering methodological decision points in interpreting the impact of PRS on prediction performance in clinical models.

Humans

Financial risk, accountability and outcome management: using data to manage and measure clinical performance.

As health care reform and components of managed competition begin to infiltrate the health care system, health care providers will be facing significant challenges over the next several years in responding to priorities that mandate the delivery of appropriate, comprehensive, cost-efficient high quality care. Changes in financial risk, increasing accountability, performance documentation, and outcome measurements will hold providers more responsible for the input and output of services provided. In an effort to respond to these challenges, health care providers will have to rely on integrated data systems to identify opportunities for improvement in an effort to more effectively manage and measure the impact of health care delivery as patients move through the health care system.

Competitive Medical Plans

Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models.

The value of genetic information for improving the performance of clinical risk prediction models has yielded variable conclusions. Many methodological decisions have the potential to contribute to differential results across studies. Here, we performed multiple modeling experiments integrating clinical and demographic data from electronic health records (EHR) and genetic data to understand which decision points may affect performance. Clinical data in the form of structured diagnostic codes, medications, procedural codes, and demographics were extracted from two large independent health systems and polygenic risk scores (PRS) were generated across all patients with genetic data in the corresponding biobanks. Crohn's disease was used as the model phenotype based on its substantial genetic component, established EHR-based definition, and sufficient prevalence for model training and testing. We investigated the impact of PRS integration method, as well as choices regarding training sample, model complexity, and performance metrics. Overall, our results show that including PRS resulted in higher performance by some metrics but the gain in performance was only robust when combined with demographic data alone. Improvements were inconsistent or negligible after including additional clinical information. The impact of genetic information on performance also varied by PRS integration method, with a small improvement in some cases from combining PRS with the output of a clinical model (late-fusion) compared to its inclusion an additional feature (early-fusion). The effects of other modeling decisions varied between institutions though performance increased with more compute-intensive models such as random forest. This work highlights the importance of considering methodological decision points in interpreting the impact on prediction performance when including PRS information in clinical models.

Preprint

The geographical distribution of diagnostic medical and dental X-ray services in South Africa

AIM: The aim of this study was threefold, viz.: (i) to evaluate the availability and accessiblity of medical and dental X-ray services in South Africa; (ii) to evaluate geographical information systems (GIS) as a tool for management of health care technologies; and (iii) to guide policy and develop a process to provide optimal utilisation of X-ray services in South Africa. METHODS: Information supplied by the Department of Health on licensed X-ray equipment was integrated with census data and processed with GIS. Four key areas were assessed, viz. distribution, accessibility, age and availability of X-ray services in South Africa. RESULTS: The analysis shows a vast inequity in the distribution of X-ray services on a provincial as well as a district level, although on the national level the distribution of X-ray services meets the World health Organisation criteria. CONCLUSION: GIS is a useful tool in evaluating and planning of essential health services/techniques. However, care must be taken in interpreting the data on a macro level, as this masks vast inequities on the district level. RECOMMENDATIONS: The indicators of coverage should be expanded, similar reports should be prepared for the nine provinces, and these data should be integrated into the clinic planning programme. Radiological services should be added to and managed as part of an essential district health care technology package.

Journal Article

Measuring health and economic status of older adults in developing countries.

Aging and health care are the emerging policy issues in the Third World. However, we currently do not have the data to address these issues because economic status and health have not been integrated into a single survey design. This article discusses the rationale for the principal features of an emerging new international survey design which includes integration of younger and older families; reliance on retrospective data; intensive measurement of economic status, health outcomes and utilization and intergenerational transfers; and the combination of a household and community survey.

Aged

Integrated health care management through comprehensive information systems.

The true impact of a company's benefit strategy can be known only when relevant indicators can be adequately tracked, evaluated and brought together. An unparalleled opportunity exists to creatively apply computer technologies to address decision makers' needs for integrated health care information.

Data Collection

Integrating heterogeneous pieces of evidence in systematic reviews.

Researchers preparing systematic reviews often encounter various types of evidence, which can generally be categorized as direct or indirect. The former directly relates an exposure, diagnostic strategy, or therapeutic intervention to the occurrence of a principal health outcome. Evidence is indirect if two or more bodies of evidence are required to relate the exposure, diagnostic strategy, or intervention to the principal health outcome. Heterogeneity of data sources complicates integration of both direct and indirect evidence. Participants in different studies may have a wide spectrum of baseline risk and sociodemographic and cultural characteristics. A variety of formulations and intensities of exposures, diagnostic strategies, and interventions, as well as diversity in the selection and definition of control groups, may be encountered. Outcome measures may be different, and similar outcomes may be measured or reported differently. Heterogeneity of study designs and of methodologic features and quality within a given design may be found. The effective integration of direct and indirect evidence requires development of explicit models that serve as analytic frameworks for linking the important pieces of evidence. A model can be viewed as a series of subquestions, with each important subquestion warranting a systematic review. Several subjective and quantitative methods can then be used to integrate the evidence. Tabular displays of major findings and strength of evidence for each subquestion can help reviewers, patients, and providers to integrate the differing research findings and draw reasonable conclusions. Various quantitative techniques, such as decision analysis and the confidence profile method, are also available. No single integration approach is clearly superior, none obviates uncertainty, and all underscore the role of careful judgment in integrating evidence.

Evidence-Based Medicine

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.

Rare coding variants can have large effects on disease risk and provide direct routes from human genetics to disease mechanisms and therapeutic targets, but their discovery is constrained by sample size, particularly for low-prevalence diseases. Here we establish the Biobank Rare Variant Analysis (BRaVa) consortium, a global rare variant association resource that integrates sequencing and linked health-record data from ten biobanks and cohorts comprising over 1.2 million individuals across diverse ancestries. We performed gene-based meta-analyses of rare coding variation across 33 clinical endpoints and 11 quantitative traits. Aggregating evidence across biobanks and ancestries identified 514 gene-trait associations, including 31 not previously reported in prior studies or curated association resources following systematic literature review. Notably, 36.1% of gene-level associations were undetectable in any individual biobank, and 91 emerged only through cross-ancestry meta-analysis, demonstrating that federated integration enables discovery beyond the reach of single cohorts. Similar gains were observed at the variant level, where 25.0% of phenotype-locus associations were detectable only through meta-analysis. Effect size estimates were correlated across ancestries with concordant directions of effect, supporting the generalizability of rare variant associations. The identified signals implicate pathways involved in transcriptional and epigenetic regulation, metabolism, vascular and epithelial biology, and immune function, highlighting rare coding variation as an engine for biological discovery across medical record phenotypes. For example, damaging variation in ANKRD12 implicates inflammatory transcriptional dysregulation in asthma and chronic obstructive pulmonary disease, and ultra-rare predicted loss-of-function variants in NAA15 link protein acetylation processes to type 2 diabetes risk. BRaVa establishes a scalable framework and freely available community resource for rare variant meta-analysis across global biobanks. Public release of gene- and variant-level association summary statistics provides a reference map of rare coding variant associations to support disease gene discovery, biological interpretation, and therapeutic target prioritization as sequencing-linked health-record resources continue to expand.

Journal Article

Sorting out the Baby Bells' strategies.

After months of uncertainty, the seven regional Bell operating companies have divided into two camps: those that provide only the infrastructure for health care networks, and those that offer infrastructure along with other networking features, such as systems integration and central data repositories. In their quest for health care market share, the Bells face a number of obstacles. For example, they can't provide long-distance service, and they face restrictive rate regulations. In addition, increased interest in cable TV and wireless communication ventures has led some of the Bells to downsize their health care ambitions.

Computer Communication Networks

Cognitive evaluation of decision making processes and assessment of information technology in medicine.

This paper describes cognitive methods for analyzing medical decision making and evaluating medical information systems. The overall approach focuses on understanding the processes involved in the decision making and reasoning of health care workers, both with and without the use of information technologies. The issue of developing appropriate evaluation tools, for use in the design and analysis of medical information systems is considered to be of great importance. However, conventional methods are limited in their ability to identify and characterize the effects of information technology on the cognitive processes involved in decision making and reasoning. In this paper a range of methods are described involving video recording for collecting data on the use of information systems. The techniques described allow for the collection of an integrated data set consisting of transcripts of health care workers as they 'think aloud' in interacting with a medical system, along with complete video records of user-computer interaction. In addition, the methods can be extended to allow for the collection of process data from video recording of systems in actual clinical and emergency situations. The use of a variety of approaches, borrowing from research in cognitive science, is discussed. The development and application of these evaluation methods within the Canadian Centres of Excellence network HEALNet is subsequently described. Finally, implications for the development and evaluation of medical information systems are considered.

Cognition

Reinventing vital statistics. The impact of changes in information technology, welfare policy, and health care.

Vital statistics offers a case study in the potential of new information technology and reengineering to achieve better public sector performance. New technology--notably the shift from a paper to an electronic process for recording vital events and transmitting the data to public agencies--is creating opportunities to produce more timely, accurate, and useful information. The furthest advanced innovation is the electronic birth certificate. At the same time, changes in welfare policy and health care--including efforts to establish paternity at the time of birth and to improve health care outcomes--are creating pressures for more policy-relevant data about vital events. In addition, the rise of integrated health plans and health information networks is radically altering the organizational context of vital statistics. On the basis of a State-by-State survey of vital statistics officials, the authors estimate that at the end of 1994, 58 percent of all births in the United States were being recorded on an electronic birth certificate and communicated to a public agency electronically. Nearly all respondents reported that the electronic birth certificate brought improvements in both timeliness and accuracy of data. Achieving the full promise of the new technology, however, will require more fundamental changes in institutions and policies and a reconceptualization of the birth certificate as part of a broader perinatal information system.

Birth Certificates

Analysis of OSHA inspection data with exposure monitoring and medical surveillance violations.

Occupational Safety and Health Administration (OSHA) inspection data from the Integrated Management Information System (IMIS) enforcement data base are presented for lead, ethylene oxide, and formaldehyde for fiscal years 1985, 1987, and 1989, and are discussed with emphasis on exposure monitoring or medical surveillance section violations. These data suggest that the exposure monitoring section of these standards is more commonly used to cite workplaces below these standards than is the medical surveillance section. Medical surveillance violations more commonly resulted in fines, but there were no differences in the magnitude of the fines for exposure monitoring or for medical surveillance violations. Implications of these findings are discussed.

Environmental Exposure

Communication standards: impact on nursing practice.

1. BACKGROUND INFORMATION. In order to meet the demands of processing large amounts of data, hospitals must look to innovative methods of information handling. One new method currently in use is the computerized patient record (CPR) (Dick & Steen, 1991). To successfully implement the CPR, many factors must be considered, including: (a) the fact that the database is dependent upon several different departments and resources for information; (b) the information needs of each department differs, making selection of a single information system that encompasses all users' needs difficult; and (c) operating systems may be incompatible, hampering the process of networking and exchanging, processing, and retrieving data in an integrated manner. Yet the integration of systems is central to the successful development of the CPR. 2. PURPOSE. Establishment of communication standards for health care promotes the effective integration of patient information across various computer systems (McDonald, 1990). To achieve this level of automation, standard organizations must unite in the development and implementation of communication standards for health care. This poster will explore: (a) data on communication standards; (b) the process of reaching standards; (c) established communication standards; and (d) the impact of communication standards on nursing practice. In addition, we will present a model for an integrated patient focused system of the future. Today, communication standards continue to evolve in health care. Many professional organizations share the goal of developing communication standards between clinical systems (McDonald, 1990). Standards to be explored in this poster include: the American Society for Testing and Materials (ASTM), the Medical Data Interchange Standard (MEDIX), the Medical Information Bus (MIB), and Health Level (HL7). Evolving standards will define protocols and procedures for the effective exchange of easy integration of information systems. Once standards are established for health care, society will benefit from the ability to: (a) compare health care costs; (b) measure the effectiveness of treatment; and (c) provide clinicians with comprehensive patient information (Rishel, 1992). 3. IMPLICATIONS. There is very little in existing literature and research studies on the impact of communication standards on nursing practice. Nurse researchers willing to assume the challenge of conducting studies on the impact of communication standards on nursing practice will forge new territory. Implications for nursing from the development of communication standards include: (a) increased productivity, (b) definition of a clinical data set, (c) improved quality patient care, and (d) easier system implementations.

Humans