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Strategies for mitigating data heterogeneities in AI-based neuro-disease detection
Matthew Leming1, Kyungsu Kim2, Rose Bruffaerts3
1Center for Systems Biology, Massachusetts General Hospital, Boston, MA, USA; Massachusetts Alzheimer's Disease Research Center, Massachusetts General Hospital, Boston, MA, USA.
Neuron
|March 4, 2025
Summary
This NeuroView explores challenges in artificial intelligence (AI) for disease detection using diverse clinical data. It addresses model bias, causality, and rare disease issues for improved AI performance.
Area of Science:
- Medical Artificial Intelligence
- Clinical Data Science
- Computational Medicine
Background:
- Disease-detection AI models are increasingly trained on heterogeneous clinical data.
- Diverse data sources present unique challenges for AI model development and validation.
- Understanding these challenges is crucial for reliable AI deployment in healthcare.
Purpose of the Study:
- To discuss the challenges and best practices for AI models trained on heterogeneous clinical data.
- To focus on the interrelated problems of model bias, causality, and rare diseases in AI.
- To provide guidance for developing robust and equitable disease-detection AI.
Main Methods:
- Review and synthesis of current literature on AI in healthcare.
- Analysis of common issues arising from heterogeneous clinical datasets.
- Discussion of theoretical frameworks for bias, causality, and rare disease modeling.
Main Results:
- Heterogeneous data can introduce significant model bias, affecting generalizability.
- Establishing causality in AI models trained on observational clinical data is complex.
- Rare diseases pose unique difficulties for AI model training and validation due to data scarcity.
Conclusions:
- Addressing model bias, causality, and rare diseases is essential for trustworthy AI.
- Best practices involve careful data curation, bias mitigation strategies, and causal inference methods.
- Future research should focus on developing AI that is robust, fair, and effective across diverse populations and conditions.

