Abstract
Molecular biology combined with genomics can be a powerful tool for developing potential intervention strategies for improving outcomes in children with autism spectrum disorders (ASD). Monogenic etiologies rarely cause autism. Instead, ASD is more frequently due to many polygenic contributing factors interacting with each other, combined with the epigenetic effects of diet, lifestyle, and environment. One limitation of genomics has been identifying ways of responding to each identified gene variant to translate the information to something clinically useful. This paper will illustrate how understanding the function of a gene and the effects of a reported variant on a molecular level can be used to develop actionable and targeted potential interventions for a gene variant or combinations of variants. For illustrative purposes, this communication highlights a specific genomic variant, SHANK3. The steps involved in developing molecularly genomically targeted actionable interventions will be demonstrated. Cases will be shared to support the efficacy of this strategy and to show how clinicians utilized these targeted interventions to improve ASD-related symptoms significantly. The presented approach demonstrates the utility of genomics as a part of clinical decision-making.
Highlights
The Need to Shift the Paradigm to a PersonalizedMedicine ApproachAutism spectrum disorder (ASD) is a constellation of neurodevelopment syndromes that can present in various ways, including social, communication, or behavioral deficits [1].The classic paradigm for medical treatments has generally been identifying a diagnosis without considering varying potential root causes, i.e., “the pill for an ill” approach.as science has progressed, it has become clear that underlying most diagnoses of chronic conditions, including autism spectrum disorders (ASD), individual differences provide an opportunity for more effective precision medicine
One of the first areas identified and addressed was the genomic variants contributing to various forms of inflammation
The patient had variants in the Interleukin 1-Beta (IL1B) gene associated with elements of brain inflammation and directly associated with ASD [45]
Summary
As science has progressed, it has become clear that underlying most diagnoses of chronic conditions, including ASD, individual differences provide an opportunity for more effective precision medicine. Precision medicine aims to identify and address the underlying molecular differences unique to everyone. Relevant gene pathways and networks specific to an individuals’ genomic and molecular profile is a strategy that has been shown to improve treatment responses [2]. This genomically targeted personalized medicine strategy is effective across many medical disciplines, including oncology and neurology [2–4]. The challenge in medicine has been identifying these molecular differences, in the case of mental health or brain-related disorders, since the blood-brain barrier (BBB) makes it challenging to measure proteins
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
