Genomic diagnostics of neurodevelopmental disorders: current opportunities and future potential
DOI:
https://doi.org/10.13112/pc.1050Keywords:
NEURODEVELOPMENTAL DISORDERS; GENOME; DIAGNOSTIC TECHNIQUES AND PROCEDURESAbstract
Neurodevelopmental disorders comprise a heterogeneous group of developmental disorders associated with cognitive, motor, social, and behavioral abnormalities. In addition to the above, affected patients usually have additional developmental abnormalities: dysmorphic features, congenital anomalies, epilepsy as well as various functional abnormalities. The etiological basis of neurodevelopmental disorders is complex and includes genomic alterations, epigenetic mechanisms, environmental factors, and gene-environment interactions. Knowledge of genomic diagnosis and disease mechanisms is crucial for adequate therapeutic procedures, prevention of potential associated healthcare issues, and identification of family relatives at risk. Until about 15 years ago, classic genetic and molecular genetic diagnostic methods could provide genomic basis in 10-15 % of these patients. In the last years, the introduction of next-generation sequencing technology has provided simultaneous analysis of a large set of genes and the whole genome. It significantly improved the diagnosis of neurodevelopmental disorders. Next-generation sequencing technology connects the methods of molecular biology, information technology, and clinical genetics. Despite the impressive progress in this field, the genomic basis of neurodevelopmental disorders is still not elucidated in many patients. At the same time, other technological platforms dedicated to genome analysis are evolving, such as methylation pattern analysis (episignature), more advanced sequencing technologies (long read), RNA sequencing, and analysis of structural variants using optical genome mapping technology. The development of these methods will certainly improve genome diagnostics of neurodevelopmental disorders and create the basis for the creation of therapeutic procedures in the future.
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