scholarly journals Diagnosis of Rare Diseases: A scoping review of clinical decision support systems

2019 ◽  
Author(s):  
Jannik Schaaf ◽  
Martin Sedlmayr ◽  
Johanna Schaefer ◽  
Holger Storf
Keyword(s):  
Machine Learning ◽  
Information Retrieval ◽  
Decision Support ◽  
Decision Support Systems ◽  
Clinical Decision Support ◽  
Rare Diseases ◽  
Web Search ◽  
Clinical Decision Support Systems ◽  
Clinical Decision ◽  
Genetic Matching

Abstract Background Rare Diseases (RD), which are defined as diseases affecting not more than 5 out of 10,000 people, are often severe, chronic, degenerative and life-threating. A main problem is the delay in diagnosis of RD. Clinical Decision Support Systems (CDSS) for RD are software-systems to support physicians in the diagnosis of patients with RD. It would therefore be useful to get a comprehensive overview of which CDSS are available and can be used under what conditions. In this work we provide a review of current CDSS in RD and which functionality and data are used by the CDSS. Methods We searched Pubmed and Cochrane for CDSS in RD published between December 1, 2008 and December 16, 2018. Only English articles, original peer reviewed journals and conference paper describing a clinical prototype or a routine use of CDSS where included. A total of 2076 articles were found and following a screening step 16 articles (describing 13 different CDSS) were considered as relevant for the final analysis. We then described and compared the CDSS using the defined categories “functionality”, “development status”, “type of clinical data” and “system availability”. Results Three types of CDSS for RD were identified: “Machine Learning and Information retrieval”, “Web Search”, and “Phenotypic and genetic matching”. 8 of the 13 reviewed CDSS are publicly available and for use by physicians. The other remaining CDSS are clinical prototypes which have been applied in clinical studies but are not accessible to others. Only one clinical prototype online. The approaches of the CDSS differ depending on what type of clinical data is used. “Machine Learning and information retrieval” can show recommendations for a diagnosis, while Web “search CDSS” will retrieve articles from literature databases (e.g. case reports), which may provide hints for a possible Diagnosis. CDSS in “Phenotypic and genetic matching” can identify similar patients based on genetic or phenotypic data. Conclusions Different CDSS for different purposes have been established and physicians have to decide which CDSS is more accurate for a particular patient case. It remains to be seen which of the CDSS will be used and maintained in the future.

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

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Jannik Schaaf ◽  
Martin Sedlmayr ◽  
Johanna Schaefer ◽  
Holger Storf
Keyword(s):  
Decision Support ◽  
Data Integration ◽  
Decision Support Systems ◽  
Clinical Decision Support ◽  
Clinical Data ◽  
Rare Diseases ◽  
Scoping Review ◽  
Support Systems ◽  
Clinical Decision Support Systems ◽  
Clinical Decision

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.

scholarly journals Evidence-based Clinical Decision Support Systems for the prediction and detection of three disease states in critical care: A systematic literature review

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 1728
Author(s):  
Goran Medic ◽  
Melodi Kosaner Kließ ◽  
Louis Atallah ◽  
Jochen Weichert ◽  
Saswat Panda ◽  
...  
Keyword(s):  
Machine Learning ◽  
Critical Care ◽  
Decision Support ◽  
Respiratory Distress ◽  
Decision Support Systems ◽  
Clinical Decision Support ◽  
Clinical Decision Support Systems ◽  
Clinical Decision ◽  
Hemodynamic Instability ◽  
Evidence Based

Background: Clinical decision support (CDS) systems have emerged as tools providing intelligent decision making to address challenges of critical care. CDS systems can be based on existing guidelines or best practices; and can also utilize machine learning to provide a diagnosis, recommendation, or therapy course. Methods: This research aimed to identify evidence-based study designs and outcome measures to determine the clinical effectiveness of clinical decision support systems in the detection and prediction of hemodynamic instability, respiratory distress, and infection within critical care settings. PubMed, ClinicalTrials.gov and Cochrane Database of Systematic Reviews were systematically searched to identify primary research published in English between 2013 and 2018. Studies conducted in the USA, Canada, UK, Germany and France with more than 10 participants per arm were included. Results: In studies on hemodynamic instability, the prediction and management of septic shock were the most researched topics followed by the early prediction of heart failure. For respiratory distress, the most popular topics were pneumonia detection and prediction followed by pulmonary embolisms. Given the importance of imaging and clinical notes, this area combined Machine Learning with image analysis and natural language processing. In studies on infection, the most researched areas were the detection, prediction, and management of sepsis, surgical site infections, as well as acute kidney injury. Overall, a variety of Machine Learning algorithms were utilized frequently, particularly support vector machines, boosting techniques, random forest classifiers and neural networks. Sensitivity, specificity, and ROC AUC were the most frequently reported performance measures. Conclusion: This review showed an increasing use of Machine Learning for CDS in all three areas. Large datasets are required for training these algorithms; making it imperative to appropriately address, challenges such as class imbalance, correct labelling of data and missing data. Recommendations are formulated for the development and successful adoption of CDS systems.

scholarly journals Machine Learning to Assist in Pneumonia Decision Making: A Systematic Review of the Literature

2020 ◽  
Author(s):  
Victor Silva ◽  
Amanda Days Ramos Novo ◽  
Damires Souza ◽  
Alex Rêgo
Keyword(s):  
Machine Learning ◽  
Systematic Review ◽  
Decision Making ◽  
Decision Support ◽  
Decision Support Systems ◽  
Clinical Decision Support ◽  
Clinical Decision Support Systems ◽  
Clinical Decision ◽  
Research Area ◽  
Review Of The Literature

Clinical decision support systems is a research area in which Machine Learning (ML) techniques can be applied. Nevertheless, specifically in assisting pneumonia decision making, the use of ML has not been so expressive. To help matters, this work aims to contribute to the evolution of the intersection of such areas by presenting a Systematic Review of the Literature. It provides results which may help to identify, interpret and evaluate how ML techniques have been applied and some research enhancements yet to be done.

scholarly journals Evidence-based Clinical Decision Support Systems for the prediction and detection of three disease states in critical care: A systematic literature review

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 1728
Author(s):  
Goran Medic ◽  
Melodi Kosaner Kließ ◽  
Louis Atallah ◽  
Jochen Weichert ◽  
Saswat Panda ◽  
...  
Keyword(s):  
Machine Learning ◽  
Critical Care ◽  
Decision Support ◽  
Respiratory Distress ◽  
Decision Support Systems ◽  
Clinical Decision Support ◽  
Clinical Decision Support Systems ◽  
Clinical Decision ◽  
Hemodynamic Instability ◽  
Evidence Based

Background: Clinical decision support (CDS) systems have emerged as tools providing intelligent decision making to address challenges of critical care. CDS systems can be based on existing guidelines or best practices; and can also utilize machine learning to provide a diagnosis, recommendation, or therapy course. Methods: This research aimed to identify evidence-based study designs and outcome measures to determine the clinical effectiveness of clinical decision support systems in the detection and prediction of hemodynamic instability, respiratory distress, and infection within critical care settings. PubMed, ClinicalTrials.gov and Cochrane Database of Systematic Reviews were systematically searched to identify primary research published in English between 2013 and 2018. Studies conducted in the USA, Canada, UK, Germany and France with more than 10 participants per arm were included. Results: In studies on hemodynamic instability, the prediction and management of septic shock were the most researched topics followed by the early prediction of heart failure. For respiratory distress, the most popular topics were pneumonia detection and prediction followed by pulmonary embolisms. Given the importance of imaging and clinical notes, this area combined Machine Learning with image analysis and natural language processing. In studies on infection, the most researched areas were the detection, prediction, and management of sepsis, surgical site infections, as well as acute kidney injury. Overall, a variety of Machine Learning algorithms were utilized frequently, particularly support vector machines, boosting techniques, random forest classifiers and neural networks. Sensitivity, specificity, and ROC AUC were the most frequently reported performance measures. Conclusion: This review showed an increasing use of Machine Learning for CDS in all three areas. Large datasets are required for training these algorithms; making it imperative to appropriately address, challenges such as class imbalance, correct labelling of data and missing data. Recommendations are formulated for the development and successful adoption of CDS systems.

scholarly journals Current Challenges and Future Opportunities for XAI in Machine Learning-Based Clinical Decision Support Systems: A Systematic Review

2021 ◽  
Vol 11 (11) ◽  
pp. 5088
Author(s):  
Anna Markella Antoniadi ◽  
Yuhan Du ◽  
Yasmine Guendouz ◽  
Lan Wei ◽  
Claudia Mazo ◽  
...  
Keyword(s):  
Machine Learning ◽  
Decision Making ◽  
Decision Support ◽  
Decision Support Systems ◽  
Clinical Decision Support ◽  
Support Systems ◽  
Clinical Decision Support Systems ◽  
Clinical Decision ◽  
Future Research ◽  
Clinical Workflow

Machine Learning and Artificial Intelligence (AI) more broadly have great immediate and future potential for transforming almost all aspects of medicine. However, in many applications, even outside medicine, a lack of transparency in AI applications has become increasingly problematic. This is particularly pronounced where users need to interpret the output of AI systems. Explainable AI (XAI) provides a rationale that allows users to understand why a system has produced a given output. The output can then be interpreted within a given context. One area that is in great need of XAI is that of Clinical Decision Support Systems (CDSSs). These systems support medical practitioners in their clinic decision-making and in the absence of explainability may lead to issues of under or over-reliance. Providing explanations for how recommendations are arrived at will allow practitioners to make more nuanced, and in some cases, life-saving decisions. The need for XAI in CDSS, and the medical field in general, is amplified by the need for ethical and fair decision-making and the fact that AI trained with historical data can be a reinforcement agent of historical actions and biases that should be uncovered. We performed a systematic literature review of work to-date in the application of XAI in CDSS. Tabular data processing XAI-enabled systems are the most common, while XAI-enabled CDSS for text analysis are the least common in literature. There is more interest in developers for the provision of local explanations, while there was almost a balance between post-hoc and ante-hoc explanations, as well as between model-specific and model-agnostic techniques. Studies reported benefits of the use of XAI such as the fact that it could enhance decision confidence for clinicians, or generate the hypothesis about causality, which ultimately leads to increased trustworthiness and acceptability of the system and potential for its incorporation in the clinical workflow. However, we found an overall distinct lack of application of XAI in the context of CDSS and, in particular, a lack of user studies exploring the needs of clinicians. We propose some guidelines for the implementation of XAI in CDSS and explore some opportunities, challenges, and future research needs.

Architectures for Architects

1993 ◽  
Vol 32 (01) ◽  
pp. 12-13 ◽  
Author(s):  
M. A. Musen
Keyword(s):  
Decision Support ◽  
Decision Support Systems ◽  
Clinical Decision Support ◽  
Support Systems ◽  
Clinical Decision Support Systems ◽  
Clinical Decision ◽  
Design And Development

Abstract:Response to Heathfield HA, Wyatt J. Philosophies for the design and development of clinical decision-support systems. Meth Inform Med 1993; 32: 1-8.

Characterizing Decision Support Telemedicine Systems

2006 ◽  
Vol 45 (05) ◽  
pp. 523-527 ◽  
Author(s):  
A. Abu-Hanna ◽  
B. Nannings
Keyword(s):  
Decision Support ◽  
Decision Support Systems ◽  
Clinical Decision Support ◽  
Literature Search ◽  
Support Systems ◽  
Clinical Decision Support Systems ◽  
Clinical Decision ◽  
Problem Dimension ◽  
Process Dimension

Summary Objectives: Decision Support Telemedicine Systems (DSTS) are at the intersection of two disciplines: telemedicine and clinical decision support systems (CDSS). The objective of this paper is to provide a set of characterizing properties for DSTSs. This characterizing property set (CPS) can be used for typing, classifying and clustering DSTSs. Methods: We performed a systematic keyword-based literature search to identify candidate-characterizing properties. We selected a subset of candidates and refined them by assessing their potential in order to obtain the CPS. Results: The CPS consists of 14 properties, which can be used for the uniform description and typing of applications of DSTSs. The properties are grouped in three categories that we refer to as the problem dimension, process dimension, and system dimension. We provide CPS instantiations for three prototypical applications. Conclusions: The CPS includes important properties for typing DSTSs, focusing on aspects of communication for the telemedicine part and on aspects of decisionmaking for the CDSS part. The CPS provides users with tools for uniformly describing DSTSs.

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