Check out my wonderful friend Hannah Waters‘s piece at Nature Medicine on current research on genetic testing for autism and the implications for families, now and in the future. Because researchers acknowledge that currently, costly chromosomal microarrays “can only identify an associated genetic abnormality in 8–25% of known clinical cases of autism”,
One company is banking on … sibling re-occurrence. In 2010, the French biotech company IntegraGen, which currently offers sequencing services to researchers, opened an office in Cambridge, Massachusetts dedicated to the development of a genetic risk assessment test targeted at children whose older sibling has autism. Their approach goes against the grain: instead of running microarrays to screen for rare CNVs, they identify SNPs shared by people with autism to assess susceptibility for the disorder. “The idea of SNPs being a risk prediction thing is not new, but it’s new to autism,” says vice president of US operations Larry Yost. “If you talk to people who are involved with [SNPs and CNVs], there is a potential role for both.”
This is just one of the approaches detailed in Hannah’s entirely interesting piece. Read the whole thing here.