Interviews with experts in rare diseases for the development of clinical decision support system software - a qualitative study

BMC Medical Informatics and Decision Making

Hans-Ulrich Prokosch¹  Martin Sedlmayr²  Martin Boeker³  Jannik Schaaf⁴  Jessica Vasseur⁴  Holger Storf⁴  Johanna Schaefer⁴ 

[1] Chair of Medical Informatics, Department of Medical Informatics, Biometrics and Epidemiology, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany;Institute for Medical Informatics and Biometry, Carl Gustav Carus Faculty of Medicine Technical University of Dresden, Dresden, Germany;Institute of Medical Biometry and Statistics, Medical Faculty and Medical Centre – University of Freiburg, Freiburg, Germany;Medical Informatics Group (MIG), University Hospital Frankfurt, Frankfurt, Germany;

关键词: Rare diseases;    Clinical decision support systems;    Computer-assisted diagnosis;    Qualitative research;    Interview;   

DOI  :  10.1186/s12911-020-01254-3

来源: Springer

【 摘 要 】

BackgroundPatients with rare diseases (RDs) are often diagnosed too late or not at all. Clinical decision support systems (CDSSs) could support the diagnosis in RDs. The MIRACUM (Medical Informatics in Research and Medicine) consortium, which is one of four funded consortia in the German Medical Informatics Initiative, will develop a CDSS for RDs based on distributed clinical data from ten university hospitals. This qualitative study aims to investigate (1) the relevant organizational conditions for the operation of a CDSS for RDs when diagnose patients (e.g. the diagnosis workflow), (2) which data is necessary for decision support, and (3) the appropriate user group for such a CDSS.MethodsInterviews were carried out with RDs experts. Participants were recruited from staff physicians at the Rare Disease Centers (RDCs) at the MIRACUM locations, which offer diagnosis and treatment of RDs.An interview guide was developed with a category-guided deductive approach. The interviews were recorded on an audio device and then transcribed into written form. We continued data collection until all interviews were completed. Afterwards, data analysis was performed using Mayring’s qualitative content analysis approach.ResultsA total of seven experts were included in the study. The results show that medical center guides and physicians from RDC B-centers (with a focus on different RDs) are involved in the diagnostic process. Furthermore, interdisciplinary case discussions between physicians are conducted.The experts explained that RDs exist which cannot be fully differentiated, but rather described only by their overall symptoms or findings: diagnosis is dependent on the disease or disease group. At the end of the diagnostic process, most centers prepare a summary of the patient case. Furthermore, the experts considered both physicians and experts from the B-centers to be potential users of a CDSS. The experts also have different experiences with CDSS for RDs.ConclusionsThis qualitative study is a first step towards establishing the requirements for the development of a CDSS for RDs. Further research is necessary to create solutions by also including the experts on RDs.

【 授权许可】

CC BY