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

Research output: Contribution to journalReview articleContributedpeer-review


  • Jannik Schaaf - , Medical Informatics Group (MIG), University Hospital Frankfurt (Author)
  • Martin Sedlmayr - , Institute for Medical Informatics and Biometry (Author)
  • Johanna Schaefer - , University Hospital Frankfurt (Author)
  • Holger Storf - , University Hospital Frankfurt (Author)


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.


Original languageEnglish
Pages (from-to)263
JournalOrphanet journal of rare diseases
Issue number1
Publication statusPublished - 24 Sept 2020

External IDs

PubMedCentral PMC7513302
Scopus 85091620036
ORCID /0000-0002-9888-8460/work/142254103



  • Databases, Factual, Decision Support Systems, Clinical, Humans, Rare Diseases/diagnosis, Software