Publication:

Neurodevelopmental delays: a review on integration between- WES, WGS and AI guided accelerated and precise diagnosis

Neurodevelopmental delays (NDDs) are a significant public health concern, and their early, accurate diagnosis is crucial for an effective intervention. This comprehensive literature review examines the transformative impact of integrating whole exome sequencing (WES), whole genome sequencing (WGS), and artificial intelligence (AI) into the diagnostic pathway for NDDs. A systematic search was conducted across scholarly databases to synthesize the latest research on the clinical utility, diagnostic yield, and implementation challenges of these technologies. The review confirms that WES and WGS have become indispensable first-tier diagnostic tools, providing a significantly higher diagnostic yield (30-50%) compared to traditional methods by identifying underlying genetic etiologies, including de novo mutations and structural variants. Moreover, the analysis highlights AI's pivotal role in accelerating and enhancing this process, from automating complex genomic data interpretation to enabling earlier clinical diagnosis through the analysis of behavioral, physiological, and electronic health record data. Despite challenges such as cost, inconsistent insurance coverage, and the need for standardized data-sharing, the synergy between genomics and AI is creating a paradigm shift toward a more precise, equitable, and patient-centered model of care. This integration holds immense promise for shortening the diagnostic journey for affected children and profoundly improving their long-term developmental trajectories.