The status quo of rare diseases centres for the development of a clinical decision support system - A cross-sectional study

Clinical decision support systems (CDSS) help to improve the diagnostics and treatment of rare diseases (RD). As one of four funded consortia of the Medical Informatics Initiative supported by the Federal Ministry of Education and Research (BMBF, Germany), MIRACUM develops a clinical decision support system (CDSS) for RD based on distributed data of ten university hospitals. The CDSS will be developed at the Rare Diseases Centres (RDC) of the MIRACUM consortium. Since it is essential to deliver decision support at the right time and place in the clinician's workflow, this study aimed to capture relevant information of the RDCs regarding patient admission and diagnostic process. Additionally, we investigated how patient documentation and digitalisation is performed at the centres. Therefore, we conducted a cross-sectional survey involving experts in the RDs domain to capture relevant information for the further development of a CDSS in RD. For each centre, one expert on RDs participated in the study (n=8). The survey identified several challenges regarding the reuse of patient data, e.g. the paper-based documentation of a patient's medical history and coding of diagnoses using ICD-10. However, we noticed a relevant use of current software diagnosis support and a similarly performed diagnostic process in all RDC. Further studies are needed to get more detailed insights and to define specific requirements.