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 p

SUBMITTER: Schaaf J 

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

REPOSITORIES: biostudies-literature