Delayed or incorrect diagnosis of rare diseases often leads to prolonged suffering and, in the worst cases, can be fatal — up to 30% of affected children are impacted. Advances in artificial intelligence (AI) promise to accelerate diagnosis by integrating genomic, phenotypic, and clinical data. However, a significant gap remains between these technological possibilities and their practical application, as the use of AI raises critical ethical, normative, and social challenges. To address these issues, a value-oriented, participatory research approach has been developed to capture the concerns, expectations, and values of adolescents, parents, and physicians in the context of AI-assisted diagnostics. Through conceptual, empirical, and design-based investigations, these values are translated into actionable guidelines — ETHIC-AI.D. These guidelines aim to support policymakers, healthcare professionals, and patient representatives in the value-driven design of AI-based diagnostic tools. Additionally, a freely accessible, interactive tool is being developed to enable the public to explore these values. The research is grounded in a multidisciplinary collaboration involving experts in rare diseases, human-centered AI design, medicine, social sciences, ethics, law, and critical educational technology.

Project partners

• Freie Universität Berlin (Human-Centered Computing Research Group, Project Coordination)
• Universitätsklinikum Bonn (Center for rare disease, ZSEB)
• ACHSE e.V.
• Universitätsklinikum Bonn (Research Center for Health Communication, CHSR)

Associated partners

• Charité – Universitätsmedizin Berlin (Medical Ethics and Medical Humanities)
• Universität Heidelberg (International Medical and Health Law 
and Data Protection Law)
• FernUniversität in Hagen (Critical Educational Technology)
• Helmholtz-Zentrum für Infektionsforschung Braunschweig (Bioinformatics and Statistics)