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BMC Medical Informatics and Decision Making
Published in: BMC Medical Informatics and Decision Making 1/2020

Open Access 01-12-2020 | Research article

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

Authors: Jannik Schaaf, Hans-Ulrich Prokosch, Martin Boeker, Johanna Schaefer, Jessica Vasseur, Holger Storf, Martin Sedlmayr

Published in: BMC Medical Informatics and Decision Making | Issue 1/2020

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Abstract

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.
Appendix
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Metadata
Title
Interviews with experts in rare diseases for the development of clinical decision support system software - a qualitative study
Authors
Jannik Schaaf
Hans-Ulrich Prokosch
Martin Boeker
Johanna Schaefer
Jessica Vasseur
Holger Storf
Martin Sedlmayr
Publication date
01-12-2020
Publisher
BioMed Central
Published in
BMC Medical Informatics and Decision Making / Issue 1/2020
Electronic ISSN: 1472-6947
DOI
https://doi.org/10.1186/s12911-020-01254-3

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