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Biomedical subjects

Joyce A Mitchell

Publications and source records attributed to Joyce A Mitchell.

At least 19 recordsLinked to original sources
PubMed2006

Status of clinical gene sequencing data reporting and associated risks for information loss.

Clinical gene sequencing is growing in importance and cost-effectiveness. In the past two years, the number of genes associated with disease has grown by roughly 25%. Knowledge of genetic variations will soon guide drug selection and dosages, predict risks from toxin exposures, and inform nutritional needs. Despite the significance of sequencing, methods for reporting results are problematic. Frequent use of paper and infrequent use of naming standards impede data exchange and make incorporation into the electronic medical record difficult. Reports often describe only variations found, rather than all data (all patient bases sequenced). Also, reports frequently do not describe reference data used to define variations. These practices create risks for loss of both data and information. Standardized electronic reporting of all data (all bases sequenced and all reference data) and electronic record systems capable of storing these results would both prevent data loss and simplify the preservation of information those data provide.

Computer Security↗
PubMed2006

'Genetics home reference': helping patients understand the role of genetics in health and disease.

The surge of information generated by the Human Genome Project has left many health professionals and their patients struggling to understand the role of genetics in health and disease. To aid the lay public and health professionals, the US National Library of Medicine developed an online resource called 'Genetics Home Reference' (GHR), located at http://ghr.nlm.nih.gov/. Launched in April 2003, GHR's goal is to help the public interpret the health implications of the Human Genome Project. It bridges the clinical questions of consumers and the rich technical data emerging from the sequenced human genome. The GHR web site is designed for easy navigation among summaries for genetic conditions and the related gene(s) and chromosome(s). This design strategy enhances the user's appreciation of how genes, chromosomes, and conditions are interrelated.

Genetic Diseases, Inborn↗
PubMed2006

Challenges and strategies of the Genetics Home Reference.

OBJECTIVE: This paper focuses on the first two years of operation of Genetics Home Reference (GHR), a Web-based resource for the general public that helps to explain the health implications of findings from the Human Genome Project. METHODS AND FINDINGS: Key challenges of Web-based consumer health communication encountered in the growth and maintenance of GHR are discussed: prioritizing topics for GHR, streamlining the development process while keeping genetic information accurate, and designing a system that helps consumers navigate complex genetic relationships. Various strategies are used to address these challenges. Tying content development to topics of national priority and addressing topics requested by users makes the site increasingly important for both consumers and health professionals. Informatics methods are essential for quality control, particularly for genetic information that changes frequently. Indexing and hierarchical browsing features help to facilitate navigation. CONCLUSIONS: GHR is a credible, dynamic Website that uses lay language to explain the effects of genetic variation on human health. Informatics strategies are key to effective management of a large and expanding body of genetics information. Feedback from formal and informal sources indicates increasing usage and favorable acceptance of GHR.

Databases as Topic↗
PubMed2006

A model of interprofessional informatics education.

An emphasis on patient safety and an administrative mandate to have information systems in place in most health care agencies in the USA by 2014 has put pressure on nursing informatics programs to increase the number of graduates. At the same time a need for change in health professions education was emphasized at an educational summit sponsored by the Institute of Medicine. Interprofessional education (IPE) will help to provide needed educational reform in informatics and is defined as planned occasions when two or more professions learn from each other and about each other in a structured manner. This paper discusses an evolving interprofessional (IPE) model of informatics education that has been developed at the University of Utah. Because of interprofessional collaboration, faculty, students, and support staff from both the medical and nursing informatics programs moved into a suite on the fifth floor of a state-of-art technology-rich health sciences education building. The co-located space has enabled the informatics programs to increase activities that promote interprofessional education.

Humans↗
PubMed2005

Using literature-based discovery to identify disease candidate genes.

We present BITOLA, an interactive literature-based biomedical discovery support system. The goal of this system is to discover new, potentially meaningful relations between a given starting concept of interest and other concepts, by mining the bibliographic database MEDLINE. To make the system more suitable for disease candidate gene discovery and to decrease the number of candidate relations, we integrate background knowledge about the chromosomal location of the starting disease as well as the chromosomal location of the candidate genes from resources such as LocusLink and Human Genome Organization (HUGO). BITOLA can also be used as an alternative way of searching the MEDLINE database. The system is available at http://www.mf.uni-lj.si/bitola/.

Algorithms↗
PubMed2004

Design of Genetics Home Reference: a new NLM consumer health resource.

The authors have developed the Genetics Home Reference, a consumer resource that addresses the health implications of the Human Genome Project. The research results made possible by the Human Genome Project are being made available increasingly in scientific databases on the Internet, but, because of the often highly technical nature of these databases, they are not readily accessible to the lay public. The authors' goal is to provide a bridge between the clinical questions of the public and the richness of the data emanating from the Human Genome Project. The Genetics Home Reference currently focuses on single gene or polygenic conditions that are also topics on MEDLINEplus, the National Library of Medicine's primary consumer health site. As knowledge of genetics expands, the interrelationships between genes and diseases will continue to unfold, and the site will reflect these developments.

Computer Systems↗
PubMed2004

To telemedically err is human.

BACKGROUND: As telemedicine alters the process of health care and introduces new technology, the extent to which it introduces new errors or allows for the occurrence of familiar errors needs to be examined. TELEMEDICINE'S IMPACT ON PATIENT SAFETY FEATURES OF TRADITIONAL CARE: The accuracy of diagnostic decisions reached via telemedicine can be directly affected by the technology's limitations and the care providers' lack of training. Telemedicine could increase the risk of familiar types of patient-provider communication failure and introduce the possibility of cumulative errors. TELEMEDICINE'S IMPACT ON NEW CARE FEATURES AND CONCEPTS: Telemedical applications that use the Internet to enhance disease management and detection and monitoring of symptoms may place the privacy and confidentiality of individual health information at risk, which imposes a possible barrier to communication. In addition, home care patients' functional limitations need to be addressed by human factors engineering. RECOMMENDATIONS: Patient safety should be integrated in organizational readiness and budget planning for telemedical interventions in hospitals, academic settings, nursing homes, home care agencies, and other health care settings. Specific recommendations are proposed for the development and diffusion of standards in telemedical care, risk management and reduction, and continuous quality improvement. SUMMARY AND CONCLUSIONS: To address patient safety and provide high-quality care, a framework for addressing and examining telemedical errors needs to be established.

Humans↗
PubMed2004

Evidence-based retrieval in evidence-based medicine.

OBJECTIVE: Clinical decisions based on a meta-analysis that is based on an ineffective retrieval strategy may have serious negative consequences for patients. The study objective was to investigate the extent to which meta-analyses report proof of their retrieval strategies' effectiveness. METHODS: The authors examined a random sample (n = 100) of articles in the 1996 to 2002 full-text subset of Ovid MEDLINE indexed as "meta-analysis." We classified the articles in three ways: the article (A) reported both a retrieval strategy in sufficient detail (such that it could be repeated) and with evidence of the strategy's effectiveness, (B) reported a retrieval strategy in sufficient detail but not with evidence of the strategy's effectiveness, or (C) neither reported a strategy in detail nor evidence of the strategy's effectiveness. Articles classified as (A) were further classified according to the level of evidence reported. RESULTS: Of the eighty-nine articles in our final analysis, six (6.7%) were classified as category (A), fifty-seven (64%) as (B), and twenty-six (29%) as (C). Articles in category (A) reported a previously validated search, a published strategy, or strategy based on expert opinion. CONCLUSION: Peer-review standards must be developed that require authors of meta-analyses to report evidence for the effectiveness of their retrieval strategies.

Evidence-Based Medicine↗
PubMed2004

The BioMediator system as a data integration tool to answer diverse biologic queries.

We present the BioMediator (www.biomediator.org) system and the process of executing queries on it. The system was designed as a tool for posing queries across semantically and syntactically heterogeneous data particularly in the biological arena. We use examples from researchers at the University of Washington, and the University of Missouri-Columbia, to discuss the BioMediator system architecture, query execution, modifications to the system to support the queries, and summarize our findings and our future directions. Finally, we discuss the system's flexibility and generalized approach and give examples of how the system can be extended for a variety of objectives.

Computational Biology↗
PubMed2004

Design and evaluation of a personal digital assistant- based alerting service for clinicians.

PURPOSE: This study describes the system architecture and user acceptance of a suite of programs that deliver information about newly updated library resources to clinicians' personal digital assistants (PDAs). DESCRIPTION: Participants received headlines delivered to their PDAs alerting them to new books, National Guideline Clearinghouse guidelines, Cochrane Reviews, and National Institutes of Health (NIH) Clinical Alerts, as well as updated content in UpToDate, Harrison's Online, Scientific American Medicine, and Clinical Evidence. Participants could request additional information for any of the headlines, and the information was delivered via e-mail during their next synchronization. Participants completed a survey at the conclusion of the study to gauge their opinions about the service. RESULTS/OUTCOME: Of the 816 headlines delivered to the 16 study participants' PDAs during the project, Scientific American Medicine generated the highest proportion of headline requests at 35%. Most users of the PDA Alerts software reported that they learned about new medical developments sooner than they otherwise would have, and half reported that they learned about developments that they would not have heard about at all. While some users liked the PDA platform for receiving headlines, it seemed that a Web database that allowed tailored searches and alerts could be configured to satisfy both PDA-oriented and e-mail-oriented users.

Attitude to Computers↗
PubMed2004

The impact of genomics on E-health.

The Human Genome Project (HGP) and e-Health are two fundamental changes that will alter the way we approach human health and life. These two scientific and societal forces will inevitably impact each other. This paper not only explores the ways that the HGP will change health care but also investigates the ways that e-Health systems will be influenced by the genomic data. The Electronic Medical Record (EMR) is discussed at length, including the probable impact on the laboratory, pharmacy, computerized provider order entry (CPOE), and other components. Thirteen points of a possible genomic future involving the EMR are presented. The genomic impact on other e-Health systems includes those at all levels of data: population, disease, patient, tissue and organ banks, cellular and for specific genes. The genomic impact on consumer health systems is explored, including Internet consumer information resources and the movement for direct-to-consumer genetic testing. The paper concludes that technology and trends of e-Health will enable the upcoming revolution caused by the health implications of the research emanating from the Human Genome Project.

Delivery of Health Care↗
PubMed2003

Improving literature based discovery support by genetic knowledge integration.

We present an interactive literature based biomedical discovery support system (BITOLA). The goal of the system is to discover new, potentially meaningful relations between a given starting concept of interest and other concepts, by mining the bibliographic database Medline. To make the system more suitable for disease candidate gene discovery and to decrease the number of candidate relations, we integrate background knowledge about the chromosomal location of the starting disease as well as the chromosomal location of the candidate genes from resources such as LocusLink, HUGO and OMIM. The BITOLA system can be also used as an alternative way of searching the Medline database. The system is available at http://www.mf.uni-lj.si/bitola/.

Algorithms↗
PubMed2003

Evaluation of WordNet as a source of lay knowledge for molecular biology and genetic diseases: a feasibility study.

OBJECTIVES: While several sources of biomedical knowledge are available, these resources are often highly specialized and usually not suitable for a lay audience. This paper evaluates whether concepts needed for molecular biology and genetic diseases are present in WordNet, the electronic lexical database. METHODS: Terms for four broad categories of concepts (phenotype, molecular function, biological process, and cellular component) were extracted from LocusLink and mapped to WordNet. All terms from the Gene Ontology database (gene products and ontology concepts) were also mapped to WordNet in order to evaluate its global coverage of the domain. Additionally, we tested two methods for improving the mapping of genetic disease names to WordNet. RESULTS: The coverage of concepts ranged from 0% (gene product symbols) to 2.8% (cellular components). Removing specialization markers from the terms and using synonyms significantly increased the rate of mapping of genetic disease names to WordNet. CONCLUSIONS: Many of the most common single gene disorders are present in WordNet, as well as many high-level concepts in Gene Ontology. Therefore, WordNet is likely to be a useful source of lay knowledge in the framework of a consumer health information system on genetic diseases.

Databases, Genetic↗
PubMed2003

Gene indexing: characterization and analysis of NLM's GeneRIFs.

We present an initial analysis of the National Library of Medicine's (NLM) Gene Indexing initiative. Gene Indexing occurs at the time of indexing for all 4600 journals and over 500,000 articles added to PubMed/MEDLINE each year. Gene Indexing links articles about the basic biology of a gene or protein within eight model organisms to a specific record in the NLM's LocusLink database of gene products. The result is an entry called a Gene Reference Into Function (GeneRIF) within the LocusLink database. We analyzed the numbers of GeneRIFs produced in the first year of GeneRIF production. 27,645 GeneRIFs were produced, pertaining to 9126 loci over eight model organisms. 60% of these were associated with human genes and 27% with mouse genes. About 80% discuss genes with an established MeSH Heading or other MeSH term. We developed a prototype functional alerting system for researchers based on the GeneRIFs, and a strategy to find all of the literature related to genes. We conclude that the Gene Indexing initiative adds considerable value to the life sciences research community.

Abstracting and Indexing↗
PubMed2003

Graphical visualization and navigation of genetic disease information.

One of the goals of biomedical scientists in this exciting era of molecular biology is the discovery of novel genes and their relationship to the molecular basis of disease. Part of this information connecting the geno-type to the phenotype is already known and available through hubs such as LocusLink. Although Locus-Link is a valuable resource that organizes curated information around genes and provides links to other online resources, it has not been developed for users to visualize graphically the association between genes and diseases, nor to navigate easily from genotype to phenotype (and back) within the same application. The application we developed, g2p, aims at visualizing graphically and navigating genetic disease information, especially the link between genotype and phenotype. The information displayed comes from a LocusLink query on human genes associated with a known disease (1330 genotypes, 1835 phenotypes, and 2050 associations). This application is based, in part, on the graph visualization package GraphViz. Starting from a disease query, g2p displays the phe-notype view (Figure 1). Alternatively, from a gene query, it creates a genotype view (Figure 2). In the example here, a search on the disease Bladder cancer leads to several genes, including RB1 (Figure 1). The double frame around RB1 indicates that it is linked to more than one disease and thus is "navigable". Following this link leads to the several diseases associated with RB1, including - besides Bladder cancer - Retinoblstoma and Osteosarcoma (Figure 2). The latter disease also has a double frame, indicating that several genes are associated with it.

Computer Graphics↗
PubMed2003

A prototype system for retrieval of gene functional information.

Microarrays allow researchers to gather data about the expression patterns of thousands of genes simultaneously. Statistical analysis can reveal which genes show statistically significant results. Making biological sense of those results requires the retrieval of functional information about the genes thus identified, typically a manual gene-by-gene retrieval of information from various on-line databases. For experiments generating thousands of genes of interest, retrieval of functional information can become a significant bottleneck. To address this issue, we are currently developing a prototype system to automate the process of retrieval of functional information from multiple on-line sources.

Animals↗
PubMed2003

The Genetics Home Reference: a new NLM consumer health resource.

The Genetics Home Reference (GHR) is a new information resource developed to be part of the National Library of Medicine's (NLM's) consumer health initiatives. The GHR's guiding principle is to make the health implications of the Human Genome Project accessible to the public. The GHR accomplishes this by providing a bridge between the NLM's consumer health systems MEDLINEplus and ClinicalTrials.gov on the one hand and the multiple resources emanating from the Human Genome Project on the other. The initial focus is on single gene conditions that are main topics in MEDLINEplus.

Databases as Topic↗