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

  • Background: Patients 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. Methods: Interviews 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. Results: A 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. Conclusions: This 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.
Author:Jannik SchaafORCiDGND, Hans-Ulrich ProkoschORCiDGND, Martin BoekerORCiDGND, Johanna Schäfer, Jessica VasseurORCiD, Holger StorfORCiDGND, Martin SedlmayrORCiDGND
Parent Title (English):BMC medical informatics and decision making
Publisher:BioMed Central
Place of publication:London
Document Type:Article
Date of Publication (online):2020/09/16
Date of first Publication:2020/09/16
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2023/11/23
Tag:Clinical decision support systems; Computer-assisted diagnosis; Interview; Qualitative research; Rare diseases
Issue:art. 230
Article Number:230
Page Number:11
First Page:1
Last Page:11
The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated in a credit line to the data.
MIRACUM is funded in context of the Medical Informatics Funding Schema by the German Federal Ministry of Education and Research (BMBF). Funding reference number: FKZ 01ZZ1801A, 01ZZ1801B, 01ZZ1801C, 01ZZ1801L. Open Access funding enabled and organized by Projekt DEAL.
Dewey Decimal Classification:0 Informatik, Informationswissenschaft, allgemeine Werke / 00 Informatik, Wissen, Systeme / 004 Datenverarbeitung; Informatik
6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):License LogoCreative Commons - CC BY - Namensnennung 4.0 International