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

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.

Author(s):  
Taku Harada ◽  
Taiju Miyagami ◽  
Kotaro Kunitomo ◽  
Taro Shimizu

Diagnosis is one of the crucial tasks performed by primary care physicians; however, primary care is at high risk of diagnostic errors due to the characteristics and uncertainties associated with the field. Prevention of diagnostic errors in primary care requires urgent action, and one of the possible methods is the use of health information technology. Its modes such as clinical decision support systems (CDSS) have been demonstrated to improve the quality of care in a variety of medical settings, including hospitals and primary care centers, though its usefulness in the diagnostic domain is still unknown. We conducted a scoping review to confirm the usefulness of the CDSS in the diagnostic domain in primary care and to identify areas that need to be explored. Search terms were chosen to cover the three dimensions of interest: decision support systems, diagnosis, and primary care. A total of 26 studies were included in the review. As a result, we found that the CDSS and reminder tools have significant effects on screening for common chronic diseases; however, the CDSS has not yet been fully validated for the diagnosis of acute and uncommon chronic diseases. Moreover, there were few studies involving non-physicians.


1993 ◽  
Vol 32 (01) ◽  
pp. 12-13 ◽  
Author(s):  
M. A. Musen

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.


2006 ◽  
Vol 45 (05) ◽  
pp. 523-527 ◽  
Author(s):  
A. Abu-Hanna ◽  
B. Nannings

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.


2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
S M Jansen-Kosterink ◽  
M Cabrita ◽  
I Flierman

Abstract Background Clinical Decision Support Systems (CDSSs) are computerized systems using case-based reasoning to assist clinicians in making clinical decisions. Despite the proven added value to public health, the implementation of CDSS clinical practice is scarce. Particularly, little is known about the acceptance of CDSS among clinicians. Within the Back-UP project (Project Number: H2020-SC1-2017-CNECT-2-777090) a CDSS is developed with prognostic models to improve the management of Neck and/or Low Back Pain (NLBP). Therefore, the aim of this study is to present the factors involved in the acceptance of CDSSs among clinicians. Methods To assess the acceptance of CDSSs among clinicians we conducted a mixed method analysis of questionnaires and focus groups. An online questionnaire with a low-fidelity prototype of a CDSS (TRL3) was sent to Dutch clinicians aimed to identify the factors influencing the acceptance of CDSSs (intention to use, perceived threat to professional autonomy, trusting believes and perceived usefulness). Next to this, two focus groups were conducted with clinicians addressing the general attitudes towards CDSSs, the factors determining the level of acceptance, and the conditions to facilitate use of CDSSs. Results A pilot-study of the online questionnaire is completed and the results of the large evaluation are expected spring 2020. Eight clinicians participated in two focus groups. After being introduced to various types of CDSSs, participants were positive about the value of CDSS in the care of NLBP. The clinicians agreed that the human touch in NLBP care must be preserved and that CDSSs must remain a supporting tool, and not a replacement of their role as professionals. Conclusions By identifying the factors hindering the acceptance of CDSSs we can draw implications for implementation of CDSSs in the treatment of NLBP.


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