The genomics revolution of the past decade has profoundly transformed our understanding of autism spectrum disorder. Even before we had much sophisticated knowledge about genes, scientists had already noted that ASD tends to run in families, and it was these early observations that led to our first understanding of ASD as a hereditary, or genetic, condition. Today, thanks to ever more rapid technological advances, we know more than ever about the links between genetics and ASD, but the more we learn, the more we realize how much farther there is still to go. That’s why ongoing genetic and genomic research into ASD remains an essential element in building a complete picture of this complex condition.
“Genetics” refers to the study of individual genes, the units of DNA that act as the building blocks of the human body by providing instructions for protein building and directing the body’s growth and function. “Genomics” refers to the complete set of genes of a single person, together with the different factors that manage gene activity during development and throughout life. “Genome sequencing” is essentially the process of decoding and reading an individual’s genome, something scientists do to determine whether someone is at risk for a particular genetic condition, for example.
How ASD genetic and genomic research works
Scientists typically conduct genetic research into particular diseases by comparing the DNA of people with the disease to the DNA of their family members and close relatives without the disease, and checking to see, at the genetic level, where the differences are. For some conditions, researchers are able to link the cause to changes or mutations in a single gene. But for other conditions, such as ASD, the process is much more complicated. That’s because of the tremendous variation that exists in how ASD presents from person to person. Just by observing individuals with ASD, we can see that they are all very different in terms of the kinds of symptoms they display and how severe the symptoms are; that same amount of variation is also going on in their DNA. This means that rather than focusing their efforts on a single gene, scientists have to sort through and examine dozens of potential candidate genes that may each play a role in the different manifestations of ASD, but which will not necessarily be the same for everyone with ASD. It is on identifying as many of these genes as possible, and the different symptoms with which they are linked, that the vast majority of genetic and genomic research into ASD is currently concentrated.
Why it’s important
Genetic testing already plays an important role in ASD diagnosis and care. But the more we know about what exactly we’re looking for, the more comprehensive, and therefore effective, the tests can be. And more effective tests mean that diagnoses will not only be more accurate – currently, ASD is only diagnosed through behavioral observation – but also that they can be performed earlier, thus allowing very young children with ASD the maximum benefits that come with the earliest possible intervention and treatment. In addition, therapies themselves will be able to improve, and to be developed and tailored more closely to each individual’s personal needs.
Who is doing it
As might be expected from such a complex field of study, genetic and genomic ASD research has given rise to a number of innovative collaborations. Some of the most notable include the 10K Genome Project, a partnership between the non-profit organization Autism Speaks and BGI (formerly the Beijing Genomics Institute) that has the goal of creating the world’s largest “resource library” of sequenced genomes from families with at least two children on the autism spectrum, and the Autism Genome Project, a public/private research alliance in which 50 research and academic institutions pool and share their DNA samples.