The objective of the project, is to review and examine the transformative impact of integrating Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), and Artificial Intelligence (AI) into the diagnostic pathway for Neurodevelopmental Delays (NDDs), to achieve accelerated and precise diagnosis. The project aims to explore how the integration between advanced genomic sequencing and AI creates a paradigm shift in NDD diagnosis, towards a more precise model of care.

Traditional diagnostic methods for NDDs, often yield inconclusive results. This review explores the integration of WES, WGS and AI in accelerating and enhancing the precision of NDD diagnosis. This integration is essential to move from traditional testing to a comprehensive genomic analysis, thereby fulfilling the critical objective, which is strongly linked to improved long-term developmental outcomes.

WES and WGS are indispensable diagnostic tools, providing a higher diagnostic yield (30-50%) compared to traditional methods. Studies show WES replaces chromosomal microarray and Fragile X testing. WGS offers a comprehensive overview, detecting structural changes and CNVs missed by WES, with yields up to 57.1%.

AI plays a pivotal role in acceleration, improving both genomic data interpretation and clinical diagnosis. AI-guided systems have enabled earlier ASD diagnosis by 1.5 years and achieved higher accuracy (85−97%) in analyzing neurophysiological data (EEG) and up to 98.4% sensitivity in video-based behavioral analysis.