Artificial intelligence in pediatric medical genetics and genomics

Artificial intelligence (AI) is being rapidly but unevenly integrated into many aspects of medicine as well as society more broadly. This review focuses on recent developments in AI through the lens of how it is affecting the field of pediatric genomics.

This article describes and explains general definitions of AI and its subtypes, including related to the latest AI applications. The article then outlines ways in which AI is being used and tested in multiple aspects of pediatric genomics, including: identifying individuals who may have genetic conditions and assisting in the diagnostic process; AI implementation in the laboratory-based genetic testing process; how recent AI developments may support patient management as well as discovery and research into novel ways to treat genetic conditions. Overall, AI is being applied to pediatric genomics in many different ways.

The field of pediatrics will undergo dramatic change because of AI. This piece traces different ways in which AI may affect one particular field, pediatric genomics. Due to rapid advances, it is likely that future AI discoveries will lead to additional ways in which AI affects this field.