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PubMed2025

A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.

PURPOSE: Diagnosing rare diseases is costly. The objectives were to microcost exome (ES) and genome sequencing (GS) trios and estimate the incremental costs of GS per additional diagnosis from an institutional payer perspective. METHODS: Trios (proband plus biological parents) that are referred for sequencing were randomly assigned to ES or GS. Laboratory workflow and sequencing were microcosted. Total and category cost per trio were estimated probabilistically. Effectiveness was expressed as diagnostic yield (rates of diagnostic or partially diagnostic variants detected). Incremental costs and effectiveness were calculated. RESULTS: The mean total cost per trio was CAD 2888.79 (95% CI 2567.72, 3492.72) for ES (n = 329) and 4364.02 (95% CI 3984.94, 5013.67) for GS (n = 324). Reagents accounted for 34% and 61% of total costs for ES and GS, respectively. The incremental cost of GS was 1475.23. The diagnostic yield was 35.9% for ES and 32.7% for GS with a difference of 0.032 (95% CI: -0.041, 0.104, P value .397). CONCLUSION: GS demonstrated higher costs and a similar diagnostic yield to ES but was limited by technical capabilities at the time of the study. The study provides comprehensive costs for the economic evaluation comparing alternative diagnostic pathways and impetus for further evaluating variants uniquely detectable by GS.

Humans↗

PubMed2026

Artificial intelligence-assisted clinical exome sequencing: Insights and outcomes from 822 pediatric diagnoses.

PURPOSE: This retrospective study examined the clinical and genetic characteristics of pediatric patients undergoing clinical exome sequencing (ES) and evaluated the performance of a commercially available artificial intelligence (AI) platform that was integrated into our analysis pipeline. METHODS: ES was performed in 822 consecutive patients at a single clinical laboratory. AI-based tools were used to jointly assess genetic information and the proband's Human Phenotype Ontology terms to support variant prioritization during the initial case review. RESULTS: A definitive molecular diagnosis was established in 22% (181 of 822) of index cases, while 40% (325 of 822) had variants of uncertain significance. Among those with a definitive diagnosis, 93% (168 of 181) had a single finding and 7% (13 of 181) had multiple findings. Of the 152 reported pathogenic/likely pathogenic variants in the fully resolved cases, 98.7% were successfully flagged by AI, and 75.0% ranked among the top 10 "most likely" variants. CONCLUSION: Clinical ES provides a substantial diagnostic yield in complex pediatric disorders. Integration of AI-powered platforms can accelerate phenotype-driven variant prioritization and facilitate rare disease diagnostics, but underscores the need for careful validation and optimization in clinical workflows.

Artificial intelligence↗

PubMed2003

[Digital mammography].

Digital mammography is an irreversible evolution which will gradually replace analog mammography. Detector technology differs among manufacturers. Expected clinical advantages are improved diagnostic performances, improved reproducibility, dose reduction, dedicated applications (CAD), archiving and telemammography. Limiting problems are at cost, reorganization of the breast imaging unit and the medical workflow.

Breast Neoplasms↗

PubMed2006

Trends and future needs in clinical radiology: insights from an academic medical center.

OBJECTIVE: Advances in technology, expanding indications and defensive medical practice, in combination with population aging, have all contributed to a substantial increase in utilization of imaging and therapeutic radiology procedures in recent years. Moreover, the integration of education, innovation and research into high-volume workflow, although challenging, is a key requirement in teaching hospitals. Therefore, identifying forthcoming demand in the use of radiology services at a referral center might be of special interest and facilitate health policy planning in this context. METHODS: Data regarding conventional radiographic, ultrasonographic and computed tomography (CT) investigations, radiotherapy sessions, and interventional procedures were collected for a 5-year period (2000-2004). Based on these observations, we deployed appropriate models to forecast utilization rates in 2005-2009. RESULTS: Between 2000 and 2004, ultrasound examinations increased by 31.8%, mammography by 31.6%, CT scans by 17.4%, interventions by 14.5% and radiotherapy sessions by 13.9%, while conventional investigations decreased by 42.5%. We identified significant increasing trends for ultrasound, mammography, CT and interventions (all p<0.001 for linear component). Compared to current levels, the workload for these modalities is expected to rise in the next 5 years by 43%, 31%, 20% and 14%, respectively. Radiotherapy sessions demonstrate an unstable, non-significant increasing trend (p=0.189), while utilization of conventional radiography declines rapidly (p<0.001 for linear trend, 5-year prediction -51%). CONCLUSIONS: In forthcoming years, the demand for radiology services at referral centers will increase substantially. Advances in digital technology alone will not suffice to completely alleviate the need for additional resources and well-trained personnel.

Academic Medical Centers↗

PubMed2005

Importance of measurements at or after the J-point for evaluation of ST-segment deviation and resolution during treatment for acute myocardial infarction.

BACKGROUND: Determination of ST-segment deviation (STdev) and its resolution (STR) by reperfusion strategies have become important tools in the assessment of patients with acute myocardial infarction (AMI). STdev has been measured at different time-points, i.e. at 20-80 ms after the J-point. There are no data comparing STR at different time-points. METHODS AND RESULTS: STdev was measured using a new computer-assisted workflow. The intraclass correlation coefficients (ICC) for validity and agreement vs. classical manual measurements (n=1020) were both 0.996 (p<0.0001). The reliability indices were 0.991 (95% CI 0.990-0.992) for the manual vs. 0.995 (95% CI 0.995-0.996) for the computer-assisted method, indicating superiority of the latter. 12-lead STdev were determined on ECGs before (baseline) and 180 min after start of thrombolytic therapy, measured both at the J-point (STdev(J)) and 20 ms after the J-point (STdev(J20); n=2400). STdev(J20) was on average 0.01+/-0.03 mV higher than STdev(J) (p<0.0001) with a tendency towards larger differences for higher ST-elevations (p<0.001). Although the average STR calculated from STdev(J20) and STdev(J) was not statistically different in any infarct location group, in 26% of the patients the difference was >10%, and 11% of the patients were classified into another ST-resolution group. Analysing STdev only in the single lead with the highest ST-elevation at baseline (a simplified measurement which may eliminate the confounding effect of ST-depressions) showed an even higher classification discordance (14% of the patients). CONCLUSIONS: The time-point of STdev measurement is an important variable to be accounted for when evaluating ST resolution data. Uncontrolled extrapolation of classification schemes based on STdev(J20) to other time-points cannot be justified.

Electrocardiography↗

PubMed2004

The role of primary care non-physician clinic staff in e-mail communication with patients.

BACKGROUND: Few studies have explicitly addressed how e-mail technology may affect non-physician clinic staff, even though these staff typically manage tasks well suited to e-mail communication such as requests for prescription renewals, laboratory and test results, and referral authorizations. GOAL: We conducted a survey of staff members at 10 primary care clinics in Boston to further evaluate non-physician staff attitudes towards e-mail use with patients. We subsequently re-surveyed staff at three of these clinics after the implementation of Patient Gateway, an application designed to facilitate secure electronic communication between patients and the clinics. RESULTS: Before Patient Gateway implementation, 88% of surveyed staff were already using e-mail at least once a day for work-related communication. Many of these staff members (24%) were already using e-mail with patients. Forty-eight percent of staff members thought that increasing e-mail use with patients could improve the quality of care their practices delivered. However, staff reported having some hesitations about increasing e-mail use with patients, mostly relating to security, confidentiality, and workload. After Patient Gateway implementation, users reported high satisfaction with the application and staff in general (users and non-users of Patient Gateway) felt more enthusiastic about increasing e-mail use with patients. CONCLUSIONS: In order to maximize the potential of staff-patient e-mail, it is important that concerns relating to security, confidentiality, and workflow are addressed, and patients must be given guidelines for the appropriate use of e-mail. Secure applications designed with these issues in mind are likely to be well received by staff members, and in turn physicians.

Adolescent↗

PubMed2005

Electronic signatures for long-lasting storage purposes in electronic archives.

Communication and co-operation in healthcare and welfare require a certain set of trusted third party (TTP) services describing both status and relation of communicating principals as well as their corresponding keys and attributes. Additional TTP services are needed to provide trustworthy information about dynamic issues of communication and co-operation such as time and location of processes, workflow relations, and system behaviour. Legal and ethical requirements demand securely stored patient information and well-defined access rights. Among others, electronic signatures based on asymmetric cryptography are important means for securing the integrity of a message or file as well as for accountability purposes including non-repudiation of both origin and receipt. Electronic signatures along with certified time stamps or time signatures are especially important for electronic archives in general, electronic health records (EHR) in particular, and especially for typical purposes of long-lasting storage. Apart from technical storage problems (e.g. lifetime of the storage devices, interoperability of retrieval and presentation software), this paper identifies mechanisms of e.g. re-signing and re-stamping of data items, files, messages, sets of archived items or documents, archive structures, and even whole archives.

Computer Security↗

PubMed2005

A review and a framework of handheld computer adoption in healthcare.

Wide adoption of mobile computing technology can potentially improve information access, enhance workflow, and promote evidence-based practice to make informed and effective decisions at the point of care. Handheld computers or personal digital assistants (PDAs) offer portable and unobtrusive access to clinical data and relevant information at the point of care. This article reviews the literature on issues related to adoption of PDAs in health care and barriers to PDA adoption. Studies showed that PDAs were used widely in health care providers' practice, and the level of use is expected to rise rapidly. Most care providers found PDAs to be functional and useful in areas of documentation, medical reference, and access to patient data. Major barriers to adoption were identified as usability, security concerns, and lack of technical and organizational support. PDAs offer health care practitioners advantages to enhance their clinical practice. However, better designed PDA hardware and software applications, more institutional support, seamless integration of PDA technology with hospital information systems, and satisfactory security measures are necessary to increase acceptance and wide use of PDAs in healthcare.

Access to Information↗

PubMed2005

Understanding technology adoption in clinical care: clinician adoption behavior of a point-of-care reminder system.

BACKGROUND: Evaluation studies of clinical decision support systems (CDSS) have tended to focus on assessments of system quality and clinical performance in a laboratory setting. Relatively few studies have used field trials to determine if CDSS are likely to be used in routine clinical settings and whether reminders generated are likely to be acted upon by end-users. Moreover, such studies when performed tend not to identify distinct user groups, nor to classify user feedback. AIM: To assess medical residents' acceptance and adoption of a clinical reminder system for chronic disease and preventive care management and to use expressed preferences for system attributes and functionality as a basis for system re-engineering. DESIGN OF STUDY: Longitudinal, correlational study using a novel developmental trajectory analysis (DTA) statistical method, followed by a qualitative analysis based on user satisfaction surveys and field interviews. SETTING: An ambulatory primary care clinic of an urban teaching hospital offering comprehensive healthcare services. 41 medical residents used a CDSS over 10 months in their daily practice. Use of this system was strongly recommended but not mandatory. METHODS: A group-based, semi-parametric statistical modeling method to identify distinct groups, with distinct usage trajectories, followed by qualitative instruments of usability and satisfaction surveys and structured interviews to validate insights derived from usage trajectories. RESULTS: Quantitative analysis delineates three types of user adoption behavior: "light", "moderate" and "heavy" usage. Qualitative analysis reveals that clinicians of distinct types tend to exhibit views of the system consistent with their demonstrated adoption behavior. Drawbacks in the design of the CDSS identified by users of all types (in different ways) motivate a redesign based on current physician workflows. CONCLUSION: We conclude that this mixed methodology has considerable promise to provide new insights into system usability and adoption issues that may benefit clinical decision support systems as well as information systems more generally.

Attitude of Health Personnel↗

PubMed2005

A distributed coordination platform for home care: analysis, framework and prototype.

Good cooperation between health care (HC) professionals, patient, and family is indispensable during homecare as mentioned in reports and analyses from different countries. In a French National project named coordination for the quality of care (COQUAS), we aimed to address the problem of improving such cooperation with current tools and techniques. We hypothesized that, as in some other domains, a better integration of use and users in informatics systems could improve the usefulness of the cooperative tool. The first part of this paper is devoted to the cognitive analysis of the homecare process and highlights the requirements which should be met according to this analysis. We describe some specific features of asynchronous cooperation and some communication issues in the cooperation of HC workers. We then detail the analysis of the homecare process: methodology, description of the processes, cognitive activity analyses, and of the requirements which flow from this analysis. The second part of this paper proposes a framework and then describes a modular system prototype, designed to take into account these requirements, including aspects of both cooperation and interoperability. It uses a meta-description of actions and information derived from a cognitive study to build dynamically the interface settings; it respects the current trend in distributed architecture and uses XML communication of messages, manages complex coordination with a workflow and allows mobile work. The last part of the paper presents the evaluation which has been done with the implemented prototype, with actual homecare users.

Communication↗

PubMed2005

Electronic implementation of guidelines in the EsPeR system: a knowledge specification method.

Despite initiatives to standardize methods for the development of clinical guidelines, several barriers hinder their integration in daily clinical practice: failure to fulfil quality criteria, poor effectiveness of their dissemination. Computerization of guidelines can favor their dissemination. The initial step of computerization is the knowledge specification from the text of the guideline. We describe the method of knowledge specification, which is used in EsPeR (Personalized Estimate of Risks), a web-based decision support system in preventive medicine, which allows, for a given person, to estimate risks and access recommendations, based on clinical profile. This method is based on a structured and systematic analysis of text allowing detailed specification of a decision tree. We use decision tables to validate the decision algorithm and decision trees to specify this algorithm, along with elementary messages of recommendation. Editing tools are used to facilitate the process of validation and the workflow between expert physicians and computer scientists. Applied to eleven different guidelines, the method allows a quick and valid computerization and integration in the EsPeR system. The method used for computerization could help to define a framework usable at the initial step of guideline development in order to produce guidelines ready for electronic implementation.

Decision Support Systems, Clinical↗

PubMed2005

Bedside, classroom and bench: collaborative strategies to generate evidence-based knowledge for nursing practice.

The rise of evidence-base practice (EBP) as a standard for care delivery is rapidly emerging as a global phenomenon that is transcending political, economic and geographic boundaries. Evidence-based nursing (EBN) addresses the growing body of nursing knowledge supported by different levels of evidence for best practices in nursing care. Across all health care, including nursing, we face the challenge of how to most effectively close the gap between what is known and what is practiced. There is extensive literature on the barriers and difficulties of translating research findings into practical application. While the literature refers to this challenge as the "Bench to Bedside" lag, this paper presents three collaborative strategies that aim to minimize this gap. The Bedside strategy proposes to use the data generated from care delivery and captured in the massive data repositories of electronic health record (EHR) systems as empirical evidence that can be analysed to discover and then inform best practice. In the Classroom strategy, we present a description for how evidence-based nursing knowledge is taught in a baccalaureate nursing program. And finally, the Bench strategy describes applied informatics in converting paper-based EBN protocols into the workflow of clinical information systems. Protocols are translated into reference and executable knowledge with the goal of placing the latest scientific knowledge at the fingertips of front line clinicians. In all three strategies, information technology (IT) is presented as the underlying tool that makes this rapid translation of nursing knowledge into practice and education feasible.

Cooperative Behavior↗

PubMed2006

Mobile information and communication in the hospital outpatient service.

OBJECTIVES: Most healthcare providers provide mobile service for their medical staff; however, few healthcare providers provide mobile service as part of their outpatient service. The mobile outpatient service system (MOSS) focuses on illness treatment, illness prevention and patient relation management for outpatient service users. Initiated in a local hospital in Taiwan, the MOSS pilot project was developed to improve outpatient service quality and pursue higher patient safety. METHOD: This study focuses on the development of the MOSS. The workflow, architecture and target users of the MOSS are delineated. In addition, there were two surveys conducted as part of this study. After a focus group of medical staff identified areas in which outpatient services might be improved by the MOSS, the first survey was administered to outpatients to confirm the focus group's intuitions. The second administration of the survey explored outpatient satisfaction after they used the MOSS service. RESULTS: With regard to outpatient attitudes, about 93% of participants agreed that the mobile outpatient service improved outpatient service quality. In the area of outpatient satisfaction, about 89% of participants indicated they were satisfied with the mobile outpatient service. DISCUSSION/CONCLUSION: Supported by our study finding, we propose that more diverse mobile outpatient services can be provided in the future.

Adult↗

PubMed2006

Categorizing the unintended sociotechnical consequences of computerized provider order entry.

OBJECTIVE: To describe the kinds of unintended consequences related to the implementation of computerized provider order entry (CPOE) in the outpatient setting. DESIGN: Ethnographic and interview data were collected by an interdisciplinary team over a 7 month period at four clinics. MEASUREMENTS: Instances of unintended consequences were categorized using an expanded Diffusion of Innovations theory framework. RESULTS: The framework was clarified and expanded. There are both desirable and undesirable unintended consequences, and they can be either direct or indirect, but there are also many consequences that are not clearly either desirable or undesirable or may even be both, depending on one's perspective. The undesirable consequences include error and security concerns and issues related to alerts, workflow, ergonomics, interpersonal relations, and reimplementations. CONCLUSION: Consequences of implementing and reimplementing clinical systems are complex. The expanded Diffusion of Innovations theory framework is a useful tool for analyzing such consequences.

Ambulatory Care↗

PubMed2006

Improving pathway compliance and clinician performance by using information technology.

To deliver patient-specific advice at the time and place of a consultation is an important contribution to improving clinician performance. Using computer-based decision support on the basis of clinical pathways is a promising strategy to achieve this goal. Thereby integration of IT applications into the clinical workflow is a core precondition for success. User acceptance and usability play a critical role: additional effort has to be balanced with enough benefit for the users and interaction design and evaluation should be handled as an intertwined, continuous process. Experiences from routine use of an online surgical pathway at Marburg University Medical Center show that it is possible to successfully address this issue by seamlessly integrating patient-specific pathway recommendations with documentation tasks which have to be done anyway, by substantially reusing entered data to accelerate routine tasks (e.g. by automatically generating orders and reports), and by continuously and systematically monitoring pathway conformance and documentation quality.

Academic Medical Centers↗

PubMed2006

User-centered design techniques for a computerised antibiotic decision support system in an intensive care unit.

OBJECTIVE: To explore the use of user-centered design techniques for developing the requirements for an antibiotic decision support system (DSS) in an intensive care unit (ICU). DESIGN AND METHODOLOGY: The setting was a 21-bed mixed medical/surgical adult ICU. This was an observational study with unstructured interviews and participatory design process. Models were constructed to demonstrate cultural, workflow, sequence/trigger events and other artefacts used to support antibiotic prescribing in the ICU. Using participatory design, a paper prototype was developed and case studies were used to simulate antibiotic prescribing for bacterial isolates. This information was used to design and pilot the decision support tool. RESULTS: The key users were identified as residents, registrars and the unit pharmacist. They identified the major requirements: ability to collate and print microbiology results, and to provide education and antibiotic advice for isolates. The final product was a real time microbiology browser and decision support tool for antibiotic prescribing (ADVISE). Uptake of the system was rapid with over 6000 encounters in the first 6 months. An audit of antibiotic use performed on all consecutive patients 6 months before and after introducing the DSS demonstrated a reduction in total and broad-spectrum antibiotics. CONCLUSION: Contextual design methodology in conjunction with participatory design was an effective method to design this antibiotic decision support tool. The process facilitated physician and pharmacist ownership of the system that resulted in immediate uptake and ongoing use.

Anti-Bacterial Agents↗

PubMed2006

Towards a hybrid method to categorize interruptions and activities in healthcare.

OBJECTIVE: Interruptions are known to have a negative impact on activity performance. Understanding how an interruption contributes to human error is limited because there is not a standard method for analyzing and classifying interruptions. Qualitative data are typically analyzed by either a deductive or an inductive method. Both methods have limitations. In this paper, a hybrid method was developed that integrates deductive and inductive methods for the categorization of activities and interruptions recorded during an ethnographic study of physicians and registered nurses in a Level One Trauma Center. Understanding the effects of interruptions is important for designing and evaluating informatics tools in particular as well as improving healthcare quality and patient safety in general. METHOD: The hybrid method was developed using a deductive a priori classification framework with the provision of adding new categories discovered inductively in the data. The inductive process utilized line-by-line coding and constant comparison as stated in Grounded Theory. RESULTS: The categories of activities and interruptions were organized into a three-tiered hierarchy of activity. Validity and reliability of the categories were tested by categorizing a medical error case external to the study. No new categories of interruptions were identified during analysis of the medical error case. CONCLUSIONS: Findings from this study provide evidence that the hybrid model of categorization is more complete than either a deductive or an inductive method alone. The hybrid method developed in this study provides the methodical support for understanding, analyzing, and managing interruptions and workflow.

Communication↗

PubMed2006

The multitasking clinician: decision-making and cognitive demand during and after team handoffs in emergency care.

Several studies have shown that there is information loss during interruptions, and that multitasking creates higher memory load, both of which contribute to medical error. Nowhere is this more critical than in the emergency department (ED), where the emphasis of clinical decision is on the timely evaluation and stabilization of patients. This paper reports on the nature of multitasking and shift change and its implications for patient safety in an adult ED, using the methods of ethnographic observation and interviews. Data were analyzed using grounded theory to study cognition in the context of the work environment. Analysis revealed that interruptions within the ED were prevalent and diverse in nature. On average, there was an interruption every 9 and 14 min for the attending physicians and the residents, respectively. In addition, the workflow analysis showed gaps in information flow due to multitasking and shift changes. Transfer of information began at the point of hand-offs/shift changes and continued through various other activities, such as documentation, consultation, teaching activities and utilization of computer resources. The results show that the nature of the communication process in the ED is complex and cognitively taxing for the clinicians, which can compromise patient safety. The need to tailor existing generic electronic tools to support adaptive processes like multitasking and handoffs in a time-constrained environment is discussed.

Continuity of Patient Care↗