Neurodevelopmental Delays: A Review on Integration Between WES, WGS and AI Guided Accelerated and Precise Diagnosis
Nidhi Vadhavekar1, Garima Misra2, Sanjana Palakodeti3, Sanya Walia4, Samrudhi Kankariya5, Raveen Muzaffer6
1Padmashree Dr. D. Y. Patil School of Medicine, 2ESIC Medical College, 3Kamineni Institute of Medical Sciences, 4Government Institute of Medical Sciences, 5Smt Kashibai Navale Medical college and general hospital, Pune, 6Dow University of health Sciences
Objective:

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.

Background:

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.

Design/Methods:
The study design is a comprehensive, literature review, the methodology involved a systematic search of major databases (like PubMed, Embase, Scopus) for peer-reviewed articles from 2011 onward, using targeted Boolean search terms. 57 articles were selected after screening, 8 additional non-PubMed articles were included, totaling to 65.
Results:

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. 

Conclusions:
Hence, the integration of WES, WGS, and AI holds immense potential for shortening the diagnostic journey for NDDs, incorporating precision-based management, and profoundly improving the long-term developmental trajectories.
10.1212/WNL.0000000000215839
Disclaimer: Abstracts were not reviewed by Neurology® and do not reflect the views of Neurology® editors or staff.