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. METHODS: To address our research questions, we took several steps to engage citizens, especially those affected by rare diseases. This approach included the following methods: pre- and post-survey (questionnaire), two workshops with focus group discussion and a requirements analysis workshop (with user stories). RESULTS: In the pre-survey, citizens suggested 45 different rare diseases and many different disease groups to be considered in the project. Two main project topics (A) “Patient-guided documentation and data collection” (20 votes) and (B) “Exchange of experience and networking” (13 votes) were identified as priorities in the workshops and ranked in the post-survey. The requirements workshop resulted in ten user stories and six initial requirements to be implemented in the digital application. CONCLUSION: Qualitative, citizen science research can be used to collectively identify stakeholder needs, project topics and requirements for a digital application in specific areas, such as rare diseases. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-022-02514-3.