Development and expert inspections of the user interface for a primary care decision support system.

Background: General practitioners play a unique key role in diagnosing patients with unclear diseases. Decision support systems in primary care can assist with diagnosis provided that they are efficient and user-friendly.

Objectives: The objective of this study is to develop a high-fidelity prototype of the user interface of a clinical decision support system for primary care, particularly for diagnosis support in unclear diseases, using expert inspections at an early stage of development to ensure a high level of usability.

From rare events to systematic data collection: the RESCUED registry for sudden cardiac death in the young in Germany.

Background: Approximately one-third of sudden cardiac deaths in the young (SCDY) occur due to a structural cardiac disease. Forty to fifty percent of SCDY cases remain unexplained after autopsy (including microscopic and forensic-toxicological analyses), suggesting arrhythmia syndromes as a possible cause of death. Due to the possible inheritability of these diseases, blood relatives of the deceased may equally be carriers of the causative genetic variations and therefore may have an increased cardiac risk profile.

Identifying project topics and requirements in a citizen science project in rare diseases: a participative study.

Background: Due to their low prevalence (< 5 in 10,000), rare diseases are an important area of research, with the active participation of those affected being a key factor. In the Citizen Science project "SelEe" (Researching rare diseases in a citizen science approach), citizens collaborate with researchers using a digital application, developed as part of the project together with those affected, to answer research questions on rare diseases. The aim of this study was to define the rare diseases to be considered, the project topics and the initial requirements for the implementation in a digital application.

Development of an Interactive Dashboard for OSSE Rare Disease Registries.

Background: The Open Source Registry System for Rare Diseases (OSSE), a web-based tool to create rare disease patient registries, currently offers no possibility to view aggregated registry data within the system. Here, we present the development and implementation of a dashboard for the registry of the German NEOCYST (Network for early onset cystic kidney diseases) consortium.

Methods: Based on user requirements from NEOCYST, we developed a general dashboard for all OSSE registries, which was extended with NEOCYST-specific statistics.

A Medical Report Feature for OSSE Rare Disease Registries.

Web-based patient registries support clinicians by providing a way to effectively store and process data. Here, we present a new feature for the open-source registry software OSSE: medical reports generated with R Markdown. As part of a rare disease research project, we describe the process from requirements assessment to the current state of technical implementation.

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.