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What is Autism Spectrum Disorder (ASD)? Is genetic testing useful?

Do you find that your child has difficulty communicating with others? Do you feel that your child's learning ability is not as good as other children of the same age? Have you considered having him/her evaluated for autism spectrum disorder?

According to the Hong Kong Monthly Statistics published in December 2022 by the Hong Kong Census and Statistics Department, when the statistical survey was conducted in 2020, approximately 3 people out of every 1,000 people in Hong Kong were diagnosed with autism spectrum disorder, which is nearly a two-fold increase compared to the data in 2013 [1].

Autism Spectrum Disorder

Autism spectrum disorders (ASD) refer to social disorders in which patients have different difficulties or developmental differences in cognition, emotion, behavior or other aspects, resulting in patients having a certain impact on social activities. This spectrum includes the commonly heard "autism", "Asperger's syndrome", "high-functioning autism", "autism tendencies", etc., as well as unclassified pervasive developmental disorders [2]. Because patients may behave and respond differently to things than the general population, although each patient's situation is unique, these effects can still create challenges for them and their caregivers at different stages of development. If the symptoms of autism spectrum disorder can be detected as early as possible and appropriate treatment is provided, the patient's condition can be improved as early as possible at an early age, which will be of great help to them in their subsequent studies and employment.

A child's growth period has a great impact on their cognition and reaction to external things in the future. Many symptoms of autism spectrum disorder can be diagnosed at a young age [3], but the general public currently does not have it. The need and awareness for evaluation are promptly realized, and the child is simply "disobedient" and "not attentive", or the parent is not well disciplined and misses the golden opportunity for training and treatment. Currently, there are different assessments and tests for autism spectrum disorder, which can be carried out when children are young.

Autism spectrum disorders have many different causes, including environmental and genetic factors. At the same time, studies have shown that vaccination with the measles, mumps, and rubella vaccine is not related to the development of autism spectrum disorder [3].

Autism Spectrum Disorders and Genes

Multiple studies have confirmed that autism spectrum disorder is 40-80% related to genetic genes [4]. Jakob Grove and his research team published an article in nature genetics in 2019 showing that they used genome-wide association analysis (Genome-Wide Association Studies (GWAS) method analyzed the genomes of 18,381 ASD patients and 27,969 controls, and found that 380 single nucleotide polymorphism units in 95 genes were significantly associated with ASD [5]. Based on this research, people can diagnose and calculate the risk of developing autism through genetic testing for ASD.

A thorough analysis of ASD-related genes requires the use of high-resolution genetic testing. Currently, whole genome sequencing (Whole Genome Sequencing) or whole exome gene sequencing (Whole Exome Sequencing) are mostly used on the market to analyze the complete genome of ASD patients to find disease-related gene variations. Due to the high integrity of its sequencing, even diseases with common symptoms can be carefully classified and analyzed.

CoGenesis® ASD Autism Cluster Disorder Gene Test uses whole-exome gene sequencing technology to analyze 304 groups of ASD-related genes according to the international American College of Medical Genetics and Genomics’ diagnosis and treatment guidelines to help patients and doctors find out the underlying causes. The causes of ASD and test results can help doctors develop personalized treatment plans for each different case.


[1] Hong Kong Statistics Monthly, December 2022, published by the Census and Statistics Department of the Hong Kong Special Administrative Region Government

[2] American Psychological Association. (2024). Autism spectrum disorder:

[3] World Health Organization. (2023, November 15). Autism spectrum disorders.

[4] Rylaarsdam, L., & Guemez-Gamboa, A. (2019). Genetic Causes and Modifiers of Autism Spectrum Disorder. Frontiers in Cellular Neuroscience, 13, 385.

[5] Stahl, E. A., Breen, G., Forstner, A. J., McQuillin, A., Ripke, S., Trubetskoy, V., ... & Sklar, P. (2019). Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics, 51(3), 431-444.

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