Three months ago while attending the Stanford University Autism Symposium, I had the good fortune of listening to a panel discussion about genetic testing in autism. The panel was titled, “Diagnostic or Treatment Value of Genetic Testing for Autism Spectrum Disorders” and it was hosted by three brilliant, compassionate, dedicated autism experts – Drs. Joachim Hallmayer, Jonathan Bernstein and Wendy Froehlich. These folks had a tough job. As the three experts in a room filled with 30-40 eager parents of children with autism, they had to portray the hope and potential of genetic diagnostic testing in autism, while simultaneously explaining how little it can actually do for parents right now.
An enormous amount of progress has been made in understanding the genetics of autism in the past decade. These early discoveries have fueled further research and encouraged pharmaceutical companies and biotechs to launch early stage research into potentially new therapies for treating autism. That said, it’s still early innings. As Drs. Hallmayer and Froehlich explained, at this point we’re only able to identify a contributing genetic cause of autism in 10%-15% of cases of people diagnosed with ASD who have diagnosed intellectual disabilities. Even studies of twins have suggested that genes account for less of the autism risk than do environmental factors.
Many of the parents in the room listening to this panel were in disbelief to hear this. 10-15%, that’s it? After processing for a few minutes, everyone had the following question. “As a parent of a child on the autism spectrum, should I get the current genetic tests available for autism?”
The answer is not at all clear, particularly given how expensive these tests can be, but the panel offered up several good questions for thinking about it, and making a decision for yourself.
- Will it change the treatment your child receives? – The answer is most likely “No.” A child diagnosed with ASD will be guided to early intervention and evidenced-based therapies such as ABA. Determining if you have some of the already-identified genetic variations associated with ASD (by taking a test) won’t really change that. We’re not at a point yet where novel drugs have been developed targeting these genetic variations. So, even if you get the test and you’ve been diagnosed – your treatment path will not likely change.
- Can it help you get into early intervention earlier? To the extent the genetic test helps you get an official diagnosis or helps you secure certain autism services from your insurance provider or school district earlier, then there may be a good case for it. This was kind of a hypothetical possibility offered up, more than a practice any parents in the room could point too as actually working for them right now. But something to keep in mind.
- Does it give you piece of mind and help with family planning? - Much of the recent research in autism genetics is around something called “copy number variation” or CNV. If our genetic code reads like a book, then CNV would be like having duplicate copies of some of the pages in the book. Page 185 is repeated 3 times, page 25 is repeated 2 times and so on. (This differs from single-nucleotide polymorphisms, or SNPs, which are more like a typo in a word in the book). Often times these CNV’s or repeated pages are only present in the child’s genome, but not in that of the father or mother’s genomes. That means the genetic variation was not passed down from the parents, but rather happened at the time of or after conception. In other words, it is not necessarily the case that the next child would have that same variation – and therefore, a next child may not have autism. (Dear reader: I am not a PhD, nor an MD and am treading on very thin ice here expertise-wise trying to relay the messages heard in the panel. You should not take my word for it on these matters. If you want to get a much more informed view on all of this you should certainly read the literature on this topic and speak with trained genetic counselors and specialists!)
The panelists pointed out that participating in a study and getting such genetic testing is very helpful for advancing the field’s understanding of autism – something that is important for all of us. If you do, they advise making sure you are with a doctor that is open to and educated in getting and helping you interpret the results of such tests. The panelists expressed that in the “next 10 to 15 years we hope to know a lot more about these conditions.”
If you’re a parent of a child with autism and are interested in discussing this, or any other topic with other parents like you, you can do so for free on MyAutismTeam.