Challenges and Opportunities of Symbiotic AI in Rare Disease Diagnosis

Abstract

Diagnosing rare diseases is difficult due to the complexity of the conditions, limited data, and a lack of specialized expertise. With over 10,000 rare diseases affecting more than 350 million people globally, diagnosis is often delayed or inaccurate, partly because traditional methods rely on fragmented and decentralized data. In this contribution, we highlight an issue similar to the curse of dimensionality that impacts the artificial intelligence training process, where too many features may lead to training failure. We named this issue the curse of heterogeneity: the need for massive interactions that slow down or lead to fail diagnosis process. Then, the contribution examines the challenges hidden behind rare disease diagnoses and discusses how SAI can improve it by combining AI-driven data analysis with human expertise. To do this, we use two real use-case scenarios. Finally, we discussed how SAI could optimize diagnosis processes and better use platforms like Orphanet, RareCare, and OMIM, which centralize rare disease data. The contribution aims to show how SAI offers a transformative approach to rare disease diagnosis by improving data integration, expert collaboration, and patient outcomes to expand the knowledge network as much as possible.

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