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

Jannik Schaaf,Martin Sedlmayr,Johanna Schaefer,Holger Storf

doi:10.1186/s13023-020-01536-z

Abstract

BackgroundRare 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.MethodsWe 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”.ResultsThe 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.ConclusionsDifferent 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.

Highlights

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
We described the background of a Clinical Decision Support System (CDSS) and the data used to perform decision support
After assessing the eligibility of the remaining 23 articles, six articles were excluded because they did not deal with a specific CDSS and were neither in clinical nor in routine use

Summary

Introduction

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. In the European Union (EU), a disease is declared as “rare “if no more than 5 out of 10,000 people are affected [1]. It is estimated that about 7000 different rare diseases (RDs) exist. Many RDs are severe, chronic and lifethreatening [3, 4]. 80% of RDs are of genetic origin and pre-dominantly affect children [5–9]. For instance cystic fibrosis as a rare lung disease occurs in the first years of the childhood and is associated with an average life expectancy of 40 years [10]. Other RDs like amyotrophic lateral sclerosis, a degenerative disease of the central and peripheral nervous system, can occur later in life and lead to death within a few years [11].

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