Ethic-AI.D – Ethically-aligned AI diagnostics for rare diseases

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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.

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Find more information on the research project here.