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

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.

Evaluation of a clinical decision support system for rare diseases: a qualitative study

“…In this study, we used a purposeful sampling, as in the previous UCD studies [ 18 , 19 ]. Experts in the field of RDs, known by the authors, were invited for participation [ 29 , 30 ].…”

“…Therefore, we decided to use a “User-Centred Design Process” (UCD) for the development of DISERDIS. In the context of the UCD, we took several steps to identify user-requirements and needs, including a scoping review of literature about CDSS for RDs [ 17 ], a cross sectional survey [ 18 ], a qualitative study with expert interviews [ 19 ] and a focus group. Based on the results of these studies, DISERDIS is developed as a high fidelity prototype that addresses the requirements of the UCD phases, but is not yet a fully developed software system [ 20 ].…”

Evaluation of a Clinical Decision Support System for Rare Diseases - A Qualitative Study

“…Within an UCD, software prototypes are designed, developed and tested on a multi-level approach together with users according to their requirements and needs [16]. In the context of the UCD, we took several steps to identify user-requirements and needs, including a scoping review of literature about CDSS for RDs [17], a cross sectional survey [18], a qualitative study with expert interviews [19] and a focus group. As a result, a high delity prototype was developed that addresses the requirements of the UCD phases, but is not yet a fully developed software system [20].…”

“…In this study, we used a purposeful sampling, as in the previous UCD studies [18,19]. Experts in the eld of RDs, known by the authors, were invited for participation [29,30].…”

“…Hence, there needs to be a revision about what kind of information of patient cases are presented. However, since RDs are very heterogeneous and a general data set that describes all diseases cannot be de ned, it might be possible to display parameters by disease groups [19]. However, the development of a data set by disease groups depends on what patient data is available at the MIRACUM locations.…”