We are considering extensive genetic testing for our 3 year old autistic daughter. Specifically, we are thinking or doing WES or WGS testing. Does anyone have any experience with this?
At the moment, we don't really know where to start with this. We'd like to know more about the cost, the benefits in terms of personalising therapy and biomedical treatments and where to do it (what company?).
I’d strongly consider saving your money and doing neither. At least not if your only reason is autism. There isn’t enough understanding of the specific genetic underpinnings of autism yet to even be able to create a diagnostic test based on genetic mutation. There are a few very specific conditions that can cause autism like symptoms because of single gene mutations but you don’t need whole genome sequencing to test for those. it can be done much more cheaply.
even if you could get a list of the handful of autism related genes your daughter might have for the vast majority of genes there is going to be no established therapy that can reliably target them and for the few for which there might be an off label drug that could affect them there is no guarantee that that would have a positive effect or any effect at all on the autism.
whole genome sequencing (or whole exome sequencing) is interesting in autism research but it’s not in a clinically useful stage for autism treatment at this point. On top of that really autistic people don’t want to be cured. Now if you’re worried about your daughter being intellectually impaired as far as I’m aware the best evidence for improving intellect in autism suggests an intellectually stimulating environment with loving and understanding parents.
if you really want to understand the difference between whole exome sequencing and whole genome sequencing I can explain it. I have an MSc in bioscience after all. Which in itself is proof that autism need not be some sort of intellectual death sentence. But in terms of your daughter I don’t see a short-term benefit.
if you’re really determined to do testing it’s better to look for well-known conditions that present in an autism like way like retts syndrome or fragile X. but in all probability your daughter doesn’t have those. But if she did there tend to be other complications you could prepare yourself for.
and after all is said and done you should speak to Doctor who has examined your daughter and ask his opinion.
I’d strongly consider saving your money and doing neither. At least not if your only reason is autism. There isn’t enough understanding of the specific genetic underpinnings of autism yet to even be able to create a diagnostic test based on genetic mutation. There are a few very specific conditions that can cause autism like symptoms because of single gene mutations but you don’t need whole genome sequencing to test for those. it can be done much more cheaply.
even if you could get a list of the handful of autism related genes your daughter might have for the vast majority of genes there is going to be no established therapy that can reliably target them and for the few for which there might be an off label drug that could affect them there is no guarantee that that would have a positive effect or any effect at all on the autism.
whole genome sequencing (or whole exome sequencing) is interesting in autism research but it’s not in a clinically useful stage for autism treatment at this point. On top of that really autistic people don’t want to be cured. Now if you’re worried about your daughter being intellectually impaired as far as I’m aware the best evidence for improving intellect in autism suggests an intellectually stimulating environment with loving and understanding parents.
if you really want to understand the difference between whole exome sequencing and whole genome sequencing I can explain it. I have an MSc in bioscience after all. Which in itself is proof that autism need not be some sort of intellectual death sentence. But in terms of your daughter I don’t see a short-term benefit.
if you’re really determined to do testing it’s better to look for well-known conditions that present in an autism like way like retts syndrome or fragile X. but in all probability your daughter doesn’t have those. But if she did there tend to be other complications you could prepare yourself for.
and after all is said and done you should speak to Doctor who has examined your daughter and ask his opinion.
Hi Peter,
Thank you very much for your reply. I really appreciate your advice on this as it seems like you really know what you're talking about.
I just want to clarify, this isn't so much about curing my beautiful, precious daughter of autism, but more about doing everything we can as parents to help her achieve her full potential and give her a chance to live a content, independent life one day, hopefully. At the moment, she appears sad and anxious a lot of the time despite our best efforts to help her thrive and as she is non-verbal and her communication skills are extremely limited, she is unable to let us know what is wrong when she's sad and tearful and it is absolutely heart-breaking for any parent to see your precious 3 year old like this and not be able to help.
To give you an example of how 'helpful' her current doctor has been, when she experienced unexplained seizures, the doctor pretty much told us to adopt a wait and see approach after the rather basic tests did not show any abnormalities instead of investigating further, and when asked if she could have GI issues that might be impacting her overall health and contributing to seizures after she experienced a very long period of diarrhea, the doctor told us that since her tummy is soft (!), there's no need for tests and she's likely just having 'toddler's diarrhea'... Btw, we have since removed gluten from her diet and her diarrhea resolved within 24 hours (!) for the first time in a year. Incidentally, her seizures have also stopped... So, no, we don't feel like there's any point discussing any new tests or treatment with her current doctor ...
Anyway, thank you for your very informative response - I really appreciate it.
