The Promise of Personalized & Precision Genomics in Autism

Abstract

Despite recent advances in understanding the etiology of autism spectrum disorder (ASD), an approved and efficacious treatment strategy has yet to be identified. The latter demonstrates that the canonical ASD profiled care is becoming much less beneficial and productive, yet it remains ineffective in preventing or effectively treating the above-mentioned disorder. Meanwhile, the link that might exert reliable control over morbidity, mortality and disabling rates as well as significantly optimize the efficacy of ASD treatment for those who had fallen ill and for persons-atrisk is Personalized & Precision Medicine (PPM). Recent advances in ASD genetics pave the way for implementation of PPM in clinical management of autism. Thus, identification of gene modifiers and epigenetic, transcriptional, and translational regulators of implicated genes is important for a more complete understanding of the genetic risk and the precise roles of specific variants. The inherent complexity and heterogeneity of ASD, often further complicated by comorbid sleep disturbances, epilepsy, or attention deficit hyperactivity disorder (ADHD), has been a prominent impediment to achieving a well-defined treatment algorithm. However, the protocols of symptomatic treatment are not considered in this article, since they have been known for a long time and do not reveal the ideology of personalized targeted therapy. In this review, we have accumulated the latest data from the main areas of pathogenetic target discovery using PPM-based tools and omics technologies, in particular genomics, which hold great promise for the development of personalized preventive diagnostic and therapeutic protocols.