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Diagnosis of Rare Diseases: a scoping review of clinical decision support systems.

ABSTRACT: BACKGROUND:Rare Diseases (RDs), which are defined as diseases affecting no more than 5 out of 10,000 people, are often severe, chronic and life-threatening. A main problem is the delay in diagnosing RDs. Clinical decision support systems (CDSSs) for RDs are software systems to support clinicians in the diagnosis of patients with RDs. Due to their clinical importance, we conducted a scoping review to determine which CDSSs are available to support the diagnosis of RDs patients, whether the CDSSs are available to be used by clinicians and which functionalities and data are used to provide decision support. METHODS:We searched PubMed for CDSSs in RDs published between December 16, 2008 and December 16, 2018. Only English articles, original peer reviewed journals and conference papers describing a clinical prototype or a routine use of CDSSs were included. For data charting, we used the data items "Objective and background of the publication/project", "System or project name", "Functionality", "Type of clinical data", "Rare Diseases covered", "Development status", "System availability", "Data entry and integration", "Last software update" and "Clinical usage". RESULTS:The search identified 636 articles. After title and abstracting screening, as well as assessing the eligibility criteria for full-text screening, 22 articles describing 19 different CDSSs were identified. Three types of CDSSs were classified: "Analysis or comparison of genetic and phenotypic data," "machine learning" and "information retrieval". Twelve of nineteen CDSSs use phenotypic and genetic data, followed by clinical data, literature databases and patient questionnaires. Fourteen of nineteen CDSSs are fully developed systems and therefore publicly available. Data can be entered or uploaded manually in six CDSSs, whereas for four CDSSs no information for data integration was available. Only seven CDSSs allow further ways of data integration. thirteen CDSS do not provide information about clinical usage. CONCLUSIONS:Different CDSS for various purposes are available, yet clinicians have to determine which is best for their patient. To allow a more precise usage, future research has to focus on CDSSs RDs data integration, clinical usage and updating clinical knowledge. It remains interesting which of the CDSSs will be used and maintained in the future.

SUBMITTER: Schaaf J

PROVIDER: S-EPMC7513302 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Diagnosis of Rare Diseases: a scoping review of clinical decision support systems.

Schaaf Jannik J Sedlmayr Martin M Schaefer Johanna J Storf Holger H

Orphanet journal of rare diseases 20200924 1

<h4>Background</h4>Rare Diseases (RDs), which are defined as diseases affecting no more than 5 out of 10,000 people, are often severe, chronic and life-threatening. A main problem is the delay in diagnosing RDs. Clinical decision support systems (CDSSs) for RDs are software systems to support clinicians in the diagnosis of patients with RDs. Due to their clinical importance, we conducted a scoping review to determine which CDSSs are available to support the diagnosis of RDs patients, whether the ...[more]

PMID: 32972444

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Project description:BackgroundSepsis is a significant cause of morbidity and mortality worldwide. Early detection of sepsis followed promptly by treatment initiation improves patient outcomes and saves lives. Hospitals are increasingly using computerized clinical decision support (CCDS) systems for the rapid identification of adult patients with sepsis.ObjectiveThis scoping review aims to systematically describe studies reporting on the use and evaluation of CCDS systems for the early detection of adult inpatients with sepsis.MethodsThe protocol for this scoping review was previously published. A total of 10 electronic databases (MEDLINE, Embase, CINAHL, the Cochrane database, LILACS [Latin American and Caribbean Health Sciences Literature], Scopus, Web of Science, OpenGrey, ClinicalTrials.gov, and PQDT [ProQuest Dissertations and Theses]) were comprehensively searched using terms for sepsis, CCDS, and detection to identify relevant studies. Title, abstract, and full-text screening were performed by 2 independent reviewers using predefined eligibility criteria. Data charting was performed by 1 reviewer with a second reviewer checking a random sample of studies. Any disagreements were discussed with input from a third reviewer. In this review, we present the results for adult inpatients, including studies that do not specify patient age.ResultsA search of the electronic databases retrieved 12,139 studies following duplicate removal. We identified 124 studies for inclusion after title, abstract, full-text screening, and hand searching were complete. Nearly all studies (121/124, 97.6%) were published after 2009. Half of the studies were journal articles (65/124, 52.4%), and the remainder were conference abstracts (54/124, 43.5%) and theses (5/124, 4%). Most studies used a single cohort (54/124, 43.5%) or before-after (42/124, 33.9%) approach. Across all 124 included studies, patient outcomes were the most frequently reported outcomes (107/124, 86.3%), followed by sepsis treatment and management (75/124, 60.5%), CCDS usability (14/124, 11.3%), and cost outcomes (9/124, 7.3%). For sepsis identification, the systemic inflammatory response syndrome criteria were the most commonly used, alone (50/124, 40.3%), combined with organ dysfunction (28/124, 22.6%), or combined with other criteria (23/124, 18.5%). Over half of the CCDS systems (68/124, 54.8%) were implemented alongside other sepsis-related interventions.ConclusionsThe current body of literature investigating the implementation of CCDS systems for the early detection of adult inpatients with sepsis is extremely diverse. There is substantial variability in study design, CCDS criteria and characteristics, and outcomes measured across the identified literature. Future research on CCDS system usability, cost, and impact on sepsis morbidity is needed.International registered report identifier (irrid)RR2-10.2196/24899.

Project description:BackgroundWorldwide, the burden of allergies-in particular, drug allergies-is growing. In the process of prescribing, dispensing, or administering a drug, a medication error may occur and can have adverse consequences; for example, a drug may be given to a patient with a documented allergy to that particular drug. Computerized physician order entry (CPOE) systems with built-in clinical decision support systems (CDSS) have the potential to prevent such medication errors and adverse events.ObjectiveThe aim of this review is to provide a comprehensive overview regarding all aspects of CDSS for drug allergy, including documenting, coding, rule bases, alerts and alert fatigue, and outcome evaluation.MethodsThe Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed as much as possible and searches were conducted in 5 databases using CPOE, CDSS, alerts, and allergic or allergy as keywords. Bias could not be evaluated according to PRISMA guidelines due to the heterogeneity of study types included in the review.ResultsOf the 3160 articles considered, 60 met the inclusion criteria. A further 9 articles were added based on expert opinion, resulting in a total of 69 articles. An interrater agreement of 90.9% with a reliability ?=.787 (95% CI 0.686-0.888) was reached. Large heterogeneity across study objectives, study designs, study populations, and reported results was found. Several key findings were identified. Evidence of the usefulness of clinical decision support for drug allergies has been documented. Nevertheless, there are some important problems associated with their use. Accurate and structured documenting of information on drug allergies in electronic health records (EHRs) is difficult, as it is often not clear to healthcare providers how and where to document drug allergies. Besides the underreporting of drug allergies, outdated or inaccurate drug allergy information in EHRs poses an important problem. Research on the use of coding terminologies for documenting drug allergies is sparse. There is no generally accepted standard terminology for structured documentation of allergy information. The final key finding is the consistently reported low specificity of drug allergy alerts. Current systems have high alert override rates of up to 90%, leading to alert fatigue. Important challenges remain for increasing the specificity of drug allergy alerts. We found only one study specifically reporting outcomes related to CDSS for drug allergies. It showed that adverse drug events resulting from overridden drug allergy alerts do not occur frequently.ConclusionsAccurate and comprehensive recording of drug allergies is required for good use of CDSS for drug allergy screening. We found considerable variation in the way drug allergy are recorded in EHRs. It remains difficult to reduce drug allergy alert overload while maintaining patient safety as the highest priority. Future research should focus on improving alert specificity, thereby reducing override rates and alert fatigue. Also, the effect on patient outcomes and cost-effectiveness should be evaluated.

Project description:BackgroundThe clinical decision-making process in pressure ulcer management is complex, and its quality depends on both the nurse's experience and the availability of scientific knowledge. This process should follow evidence-based practices incorporating health information technologies to assist health care professionals, such as the use of clinical decision support systems. These systems, in addition to increasing the quality of care provided, can reduce errors and costs in health care. However, the widespread use of clinical decision support systems still has limited evidence, indicating the need to identify and evaluate its effects on nursing clinical practice.ObjectiveThe goal of the review was to identify the effects of nurses using clinical decision support systems on clinical decision making for pressure ulcer management.MethodsThe systematic review was conducted in accordance with PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) recommendations. The search was conducted in April 2019 on 5 electronic databases: MEDLINE, SCOPUS, Web of Science, Cochrane, and CINAHL, without publication date or study design restrictions. Articles that addressed the use of computerized clinical decision support systems in pressure ulcer care applied in clinical practice were included. The reference lists of eligible articles were searched manually. The Mixed Methods Appraisal Tool was used to assess the methodological quality of the studies.ResultsThe search strategy resulted in 998 articles, 16 of which were included. The year of publication ranged from 1995 to 2017, with 45% of studies conducted in the United States. Most addressed the use of clinical decision support systems by nurses in pressure ulcers prevention in inpatient units. All studies described knowledge-based systems that assessed the effects on clinical decision making, clinical effects secondary to clinical decision support system use, or factors that influenced the use or intention to use clinical decision support systems by health professionals and the success of their implementation in nursing practice.ConclusionsThe evidence in the available literature about the effects of clinical decision support systems (used by nurses) on decision making for pressure ulcer prevention and treatment is still insufficient. No significant effects were found on nurses' knowledge following the integration of clinical decision support systems into the workflow, with assessments made for a brief period of up to 6 months. Clinical effects, such as outcomes in the incidence and prevalence of pressure ulcers, remain limited in the studies, and most found clinically but nonstatistically significant results in decreasing pressure ulcers. It is necessary to carry out studies that prioritize better adoption and interaction of nurses with clinical decision support systems, as well as studies with a representative sample of health care professionals, randomized study designs, and application of assessment instruments appropriate to the professional and institutional profile. In addition, long-term follow-up is necessary to assess the effects of clinical decision support systems that can demonstrate a more real, measurable, and significant effect on clinical decision making.Trial registrationPROSPERO International Prospective Register of Systematic Reviews CRD42019127663; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=127663.

Project description:BackgroundRare Diseases (RDs) are difficult to diagnose. Clinical Decision Support Systems (CDSS) could support the diagnosis for RDs. The Medical Informatics in Research and Medicine (MIRACUM) consortium developed a CDSS for RDs based on distributed clinical data from eight German university hospitals. To support the diagnosis for difficult patient cases, the CDSS uses data from the different hospitals to perform a patient similarity analysis to obtain an indication of a diagnosis. To optimize our CDSS, we conducted a qualitative study to investigate usability and functionality of our designed CDSS.MethodsWe performed a Thinking Aloud Test (TA-Test) with RDs experts working in Rare Diseases Centers (RDCs) at MIRACUM locations which are specialized in diagnosis and treatment of RDs. An instruction sheet with tasks was prepared that the participants should perform with the CDSS during the study. The TA-Test was recorded on audio and video, whereas the resulting transcripts were analysed with a qualitative content analysis, as a ruled-guided fixed procedure to analyse text-based data. Furthermore, a questionnaire was handed out at the end of the study including the System Usability Scale (SUS).ResultsA total of eight experts from eight MIRACUM locations with an established RDC were included in the study. Results indicate that more detailed information about patients, such as descriptive attributes or findings, can help the system perform better. The system was rated positively in terms of functionality, such as functions that enable the user to obtain an overview of similar patients or medical history of a patient. However, there is a lack of transparency in the results of the CDSS patient similarity analysis. The study participants often stated that the system should present the user with an overview of exact symptoms, diagnosis, and other characteristics that define two patients as similar. In the usability section, the CDSS received a score of 73.21 points, which is ranked as good usability.ConclusionsThis qualitative study investigated the usability and functionality of a CDSS of RDs. Despite positive feedback about functionality of system, the CDSS still requires some revisions and improvement in transparency of the patient similarity analysis.

Project description:BackgroundComputerized clinical decision support systems (CDSSs) are a promising knowledge translation tool, but often fail to meaningfully influence the outcomes they target. Low CDSS provider uptake is a potential contributor to this problem but has not been systematically studied. The objective of this systematic review and meta-regression was to determine reported CDSS uptake and identify which CDSS features may influence uptake.MethodsMedline, Embase, CINAHL, and the Cochrane Database of Controlled Trials were searched from January 2000 to August 2020. Randomized, non-randomized, and quasi-experimental trials reporting CDSS uptake in any patient population or setting were included. The main outcome extracted was CDSS uptake, reported as a raw proportion, and representing the number of times the CDSS was used or accessed over the total number of times it could have been interacted with. We also extracted context, content, system, and implementation features that might influence uptake, for each CDSS. Overall weighted uptake was calculated using random-effects meta-analysis and determinants of uptake were investigated using multivariable meta-regression.ResultsAmong 7995 citations screened, 55 studies involving 373,608 patients and 3607 providers met full inclusion criteria. Meta-analysis revealed that overall CDSS uptake was 34.2% (95% CI 23.2 to 47.1%). Uptake was only reported in 12.4% of studies that otherwise met inclusion criteria. Multivariable meta-regression revealed the following factors significantly associated with uptake: (1) formally evaluating the availability and quality of the patient data needed to inform CDSS advice; and (2) identifying and addressing other barriers to the behaviour change targeted by the CDSS.Conclusions and relevanceSystem uptake was seldom reported in CDSS trials. When reported, uptake was low. This represents a major and potentially modifiable barrier to overall CDSS effectiveness. We found that features relating to CDSS context and implementation strategy best predicted uptake. Future studies should measure the impact of addressing these features as part of the CDSS implementation strategy. Uptake reporting must also become standard in future studies reporting CDSS intervention effects.RegistrationPre-registered on PROSPERO, CRD42018092337.

Dataset Information

Diagnosis of Rare Diseases: a scoping review of clinical decision support systems.

Publications

Diagnosis of Rare Diseases: a scoping review of clinical decision support systems.

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