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Biomedical informatics methods in pharmacogenomics.

Pharmacogenomics is the study of the genetic basis of individual variation in response to therapeutic agents. Pharmacogenomics may potentially affect on every step of health care and every drug treatment protocol. The optimal approach to pharmacogenomics in hypertension requires the integration of different disciplines, in which biomedical informatics plays an essential role. This chapter describes biomedical informatics methods used in dealing with key issues in pharmacogenomics. These key issues include the association between structure and function, the interaction between gene and drug, and the correlation between genotype and phenotype. Heterogeneous resources, including web sites, databases, and software analysis tools, are selected, organized, and integrated in practical methods to support these studies. Bioinformatics methods described in this chapter include genetic sequence searching, comparison, structural modeling, functional analysis, and systems biology studies, with emphasis on single-nucleotide polymorphism (SNP) analysis. Medical informatics methods such as disease and drug information and clinical terminology are also embraced in this chapter. This combination of both biological and medical informatics provides comprehensive methodologies to resolve complex problems in pharmacogenomics.

Computational Biology↗

Data interchange for clinical neurophysiology.

Clinical Neurophysiology is rapidly moving towards complete dependence on digital instrumentation and computer-based systems. ASTM E 1467-92 "Standard Specification for Transferring Digital Neurophysiological Data Between Independent Computer Systems" was developed to allow exchange of multichannel electrophysiological waveforms, embedded textual annotations, results of mathematical processing, and clinical interpretive reports between various instruments and systems. This will permit integration of the neurophysiology laboratory interaction with hospital and clinic informations systems, and sharing of data between institutions for clinical or research purposes.

Computer Systems↗

Limited information technology for patient care in physician offices.

Evidence of physicians' use of information technology (IT) to support patient care has been sketchy and anecdotal to date. However, new findings from the Center for Studying Health System Change (HSC) show wide variation in information technology adoption across physician practices, particularly by physician practice size. In 2001, nearly 60 percent of physicians in traditional practice settings--primarily solo or relatively small group practices where the vast majority of Americans receive care--reported that their practice used information technology in no more than one of the five following clinical functions: obtaining treatment guidelines, exchanging clinical data with other physicians, accessing patient notes, generating treatment reminders for the physician's use and writing prescriptions. Highest levels of IT support for patient care were found in staff- and group-model health maintenance organization (HMO) practices, followed by medical school faculty practices and large group practices. Overall rates of information technology adoption may have increased since 2001, but the variation in IT adoption by practice setting is unlikely to have changed

Benchmarking↗

Hypermedia in pathology--the Dartmouth Interactive Medical Record project.

Hypermedia and hypertext are the focus of intense interest in multiple disciplines in medicine, particularly pathology. This communication provides explanation of theories and applications that serve as motivation for the expansion of use of these technologies. The Dartmouth Interactive Medical Record (IMR) project is discussed.

Humans↗

Patients, patient records, and ethical principles.

This paper argues that the "fair information principles" are an insufficient guide to the ethical treatment of patient records, because they lack a proper theoretical basis, are procedurally as well as substantively incomplete, and are ethically dangerous. The paper shows how more appropriate guidelines can be developed by treating patient records as patient analogs in decision-space and applying ethical principles to them. It extends this to a sketch of how a Code of Ethics for Medical Informatics Professionals can be derived in a similar way. The application of ethical principles to patient records is also explained and defended.

Computer Security↗

Participatory design and an eligibility screening tool.

For most medical informatics software products, insufficient effort is spent on the design phase of production. However, poor design often leads to systems that are either not well accepted, or far less effective than they could be. In this paper, we describe the ideas of participatory design and discuss why these ideas are especially applicable to medical informatics systems. In particular, we present a case study in the area of clinical trial protocol management. We designed and developed a tool aimed at increasing accrual to clinical trial protocols at an oncology center. However, the design evolved over time, and features of this design were only discovered through iterative development and interaction with the users within the context of the workplace.

Clinical Protocols↗

The interactions between clinical informatics and bioinformatics: a case study.

For the past decade, Stanford Medical Informatics has combined clinical informatics and bioinformatics research and training in an explicit way. The interest in applying informatics techniques to both clinical problems and problems in basic science can be traced to the Dendral project in the 1960s. Having bioinformatics and clinical informatics in the same academic unit is still somewhat unusual and can lead to clashes of clinical and basic science cultures. Nevertheless, the benefits of this organization have recently become clear, as the landscape of academic medicine in the next decades has begun to emerge. The author provides examples of technology transfer between clinical informatics and bioinformatics that illustrate how they complement each other.

Academic Medical Centers↗

A methodology for incorporating web technologies into a computer-based patient record, with contributions from cognitive science.

Cognitive science is a rich source of insight for creative use of new Web technologies by medical informatics workers. I outline a project to Web-enable an existing computer-based patient record (CPR) in the context of ideas from philosophy, linguistics, artificial intelligence, and cognitive psychology. Web prototypes play an important role (a) because Web technology lends itself to rapid prototype development, and (b) because prototypes help team members bridge among disparate medical, computing, and business ontologies. Six Web-enabled CPR prototypes were created and ranked. User scenarios were generated using a user communication matrix. Resulting prototypes were compared according to the degree to which they satisfied medical, computing, and business constraints. In a different organization, or at different time, candidate prototypes and their ranking might have been different. However, prototype generation and comparison are fundamentally influenced by factors usefully understood in a cognitive science framework.

Cognitive Science↗

[Medical coding and classification systems].

Medical coding and classification systems are expected to become increasingly important in the health care sector. Together with and as an integrated part of the electronic health information systems, the coding and classification systems will be used to improve the quality and effectiveness of the medical services. Activities connected to the different coding and classification systems are a very important component of the attempts at standardization taking place both in Norway and in the rest of Europe within the discipline medical informatics. These activities must be secured a proper professional and economic foundation. It is also of vital importance that national health authorities should participate in these activities and establish formal cooperation with professional bodies. In Norway, the Ministry of Health and Social Affairs has accepted with some miner modifications, our suggestion for a model where the Norwegian Medical Association would be responsible for the medical aspects of the coding and classification systems and for their development, and the Norwegian Centre for Medical Informatic's for organization, distribution, electronic version, integration in information systems and user assistance.

Classification↗

Patients and professionals in the information society: what might keep us awake in 2013.

This commentary of Haux' prognosis of the state of affairs in health care and information technology in the year 2013 argues the importance of standing up against the many high-tech, utopian dreams that are often associated with ICT in health care. Discussing many of the themes that Haux brings up, three issues are particularly focused upon: the importance of 'patient-centered' care, the changing position of the professional in current health care, and the nature of health care information. In all these issues, cliches threaten to hide several real and possibly painful issues, which, if unaddressed, will hamper any real progress. In all these issues, moreover, medical informatics plays an important role, and is a core actor in the future shaping of our health care systems. This responsibility should not be taken lightly.

Cost-Benefit Analysis↗

Utilization of computer technology by family medicine community preceptors in Mississippi.

BACKGROUND: Medical informatics require physicians to synthesize information available from a broad range of sources and identify "best" treatment strategies based upon individual patient's needs. METHODS: An assessment of computer technology utilization and the self-perceived competency of the family medicine preceptors who supervise residents during rotations was completed. A ten item survey was developed which assessed the preceptors' comfort level and use of computer technology within their office practices. Surveys were mailed to 127 family medicine preceptors. RESULTS: Sixty-six respondents completed the survey for a response rate of 52%. The majority of respondents indicated ownership of a desktop computer (88%). Forty-nine respondents (77%) indicated general comfort using the computer. Seventeen respondents (27%) used the computers for patient education and nine (14%) utilized the computers in student/resident teaching. CONCLUSIONS: Physicians are not using computers for patient education nor student/resident training. Community preceptors need further training in medical informatics and advanced computer competency.

Computer Literacy↗

Designing clinically useful systems: examples from medicine and dentistry.

Despite promising results in medical informatics research and the development of a large number of different systems, few systems get beyond a prototype state and are really used in practice. Among other factors, the lack of explicit user focus is one main reason. The research projects presented in this paper follow a user-centered system development approach based on extensive work analyses in interdisciplinary working groups, taking into account human cognitive performance. Different medical and health-care specialists, together with researchers in human-computer interaction and medical informatics, specify future clinical work scenarios. Special focus is put on analysis and design of the information and communication flow and on exploration of intuitive visualization and interaction techniques for clinical information. Adequate choice of the technical access device is made depending on the user's work situation. It is the purpose of this paper to apply this method in two different research projects and thereby to show its potential for designing clinically useful systems that do support and not hamper clinical work. These research projects cover IT support for chairside work in dentistry (http://www.dis.uu.se/mdi/research/projects/orquest) and ICT support for home health care of elderly citizens (http://www.medsci.uu.se/mie/project/closecare).

Aged↗

Knowledge management to support performance-based medicine.

OBJECTIVES: To discuss research issues for medical informatics in order to support the further development of health information systems, exploiting knowledge management and information and communication technology to increase the performance of Health Care Organizations (HCOs). METHODS: Analyze the potential of exploiting knowledge management technology in medicine. RESULTS AND CONCLUSIONS: The increasing pressure on HCOs to ensure efficiency and cost-effectiveness, balance the quality of care, and contain costs will drive them towards more effective management of medical knowledge derived from biomedical research. Knowledge management technology may provide effective methods and tools in speeding up the diffusion of innovative medical procedures. Reviews of the effectiveness of various methods of best practice dissemination show that the greatest impact is achieved when such knowledge is made accessible through the health information system at the moment it is required by care providers at their work sites. There is a need to take a more clinical process view of health care delivery and to identify the appropriate organizational and information infrastructures to support medical work. Thus, the great challenge for medical informatics is represented by the effective exploitation of the astonishing capabilities of new technologies to assure the conditions of knowledge management and organizational learning within HCOs.

Decision Making, Computer-Assisted↗

Prevalence of plagiarism among medical students.

AIM: To determine the prevalence of plagiarism among medical students in writing essays. METHODS: During two academic years, 198 second year medical students attending Medical Informatics course wrote an essay on one of four offered articles. Two of the source articles were available in an electronic form and two in printed form. Two (one electronic and one paper article) were considered less complex and the other two more complex. The essays were examined using plagiarism detection software "WCopyfind," which counted the number of matching phrases with six or more words. Plagiarism rate, expressed as the percentage of the plagiarized text, was calculated as a ratio of the absolute number of matching words and the total number of words in the essay. RESULTS: Only 17 (9%) of students did not plagiarize at all and 68 (34%) plagiarized less than 10% of the text. The average plagiarism rate (% of plagiarized text) was 19% (5-95% percentile=0-88). Students who were strictly warned not to plagiarize had a higher total word count in their essays than students who were not warned (P=0.002) but there was no difference between them in the rate of plagiarism. Students with higher grades in Medical Informatics exam plagiarized less than those with lower grades (P=0.015). Gender, subject source, and complexity had no influence on the plagiarism rate. CONCLUSIONS: Plagiarism in writing essays is common among medical students. An explicit warning is not enough to deter students from plagiarism. Detection software can be used to trace and evaluate the rate of plagiarism in written student assays.

Adult↗

Continuous quality improvement through use of perinatal clinical record and AGUSTINA database.

UNLABELLED: This paper reviews the development of the field of medical informatics in Latin America. It also describes the results of a computer-based data management system, named AGUSTINA, which is comprised of maternal and infant data on 7570 deliveries that occurred between June, 1990 and December, 1996 in a hospital in the surroundings of Buenos Aires, Argentina. These data were fundamental for the instrumentation of preventive community-oriented activities in the area. Finally, this paper describes recommendations for future actions in the area of medical informatics in Latin America. ABBREVIATIONS: PCR: perinatal clinical record; CLAP, Centro Latino-Americano de Perinato-logia; WHO, World Health Organization; PAHO, Pan-American Health Organization; E-Mail, electronic mail; WWW, world wide web; FTP, file transfer protocol.

Adolescent↗

Confidentiality issues for medical data miners.

The first task in any medical data mining effort is ensuring patient confidentiality. In the past, most data mining efforts ensured confidentiality by the dubious policy of withholding their raw data from colleagues and the public. A cursory review of medical informatics literature in the past decade reveals that much of what we have "learned" consists of assertions derived from confidential datasets unavailable for anyone's review. Without access to the original data, it is impossible to validate or improve upon a researcher's conclusions. Without access to research data, we are asked to accept findings as an act of faith, rather than as a scientific conclusion. This special issue of Artificial Intelligence in Medicine is devoted to medical data mining. The medical data miner has an obligation to conduct valid research in a way that protects human subjects. Today, data miners have the technical tools to merge large data collections and to distribute queries over disparate databases. In order to include patient-related data in shared databases, data miners will need methods to anonymize and deidentify data. This article reviews the human subject risks associated with medical data mining. This article also describes some of the innovative computational remedies that will permit researchers to conduct research AND share their data without risk to patient or institution.

Computer Security↗

Developing, implementing, and evaluating decision support systems for shared decision making in patient care: a conceptual model and case illustration.

The importance of including patient preferences in decisions regarding their care has received increased emphasis over recent years. Medical informatics can play an important role in improving patient-centered care by developing decision support systems to support the inclusion of patient preferences in clinical decision making. However, development of such systems is a complex task that requires the integration of knowledge from four major research areas: (1) the clinical domain, for understanding of the decision problem, (2) decision science and research on shared decision making, to provide the theoretical underpinnings and techniques for eliciting patient preferences; (3) medical informatics, to provide the technology and algorithms for the collection, processing, structure, presentation and integration of patient preferences into patient care; and (4) organizational knowledge, to adapt the decision support system to the practices and work flows of clinicians and the organizational and professional context of the clinical practice settings. This paper describes a conceptual model comprising eight key components that are important to be considered in the development, implementation, and evaluation of decision support systems for shared decision making in patient care. The example of CHOICE, a decision support system to assist nurses in eliciting and integrating rehabilitation patients' preferences for functional performance in patient care is used to illustrate the eight components.

Choice Behavior↗