MindSpec recently published their second book chapter by InTech Open Access publishers, summarizing the current state of genetic testing for autism.
The authors emphasized that at present, genetic tests cannot diagnose autism spectrum disorders (ASD); they can only identify genetic variants potentially responsible for ASD pathogenesis in a given individual. Moreover, expert interpretation of genetic testing is critical for properly understanding the risk of ASD conferred by such genetic variants.
Instead, the chapter addressed advances in genetic testing technologies, including Next Generation Sequencing and Chromosomal Microarray. It also discussed the specific genes and genomic loci targeted by single nucleotide and copy number variants that have been linked to ASD susceptibility, the bioinformatics tools that enable researchers to process the enormous amount of genetic data associated with ASD, and challenges that exist in the interpretation and reporting of genetic evaluation results in ASD cases.
Entitled “Genetic Evaluation of Individuals with Autism Spectrum Disorders,” the chapter was compiled as part of the book “Recent Advances in Autism Spectrum Disorders,” published in March 2013. Authors of the chapter included MindSpec scientists Eric C. Larsen and Catherine Croft Swanwick, along with Chief Scientific Officer Sharmila Banerjee-Basu.