Are there any benefits to whome genome testing ?

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This costs $$$$ and most likely will not be covered by my insurance company.

However, I would like to have one done on my son due to his inability to gain any language (at almost 6) and his other associated developmental delays. The autism itself, to be honest, is mild. What is really more difficult to deal with is the global apraxia and congenital strabismus, and of course, the lack of language.

Before I run out and shell out the money, I would like your opinions / feedback. Would whole genome testing would be useful for my son ? I ask because I was told by a genetics counselor that genetic mutations, and conditions caused by genetic mutations, are "incurable", and so I should not even bother with getting genome sequencing as she does not "see the point". Is her claim accurate ?

I keep reading about these rare childhood disorders (metabolic, in some cases) which can explain his severe developmental delays, even if not the autism (and, as I mentioned, the autism itself isn't the issue, the issue are the co-morbids).

Please advise.

Thanks !

I don't know enough about the testing to comment on it specifically, but the first question that comes to my mind is, would having an "answer" help you? The benefit may not just rest with your son. If you feel that having an answer would help you in some significant way, I would continue to explore, even if it won't necessarily benefit your son directly. IMHO, if the knowledge gained would benefit you significantly, that would be reason enough to consider it. Plus, if it benefits you, it will benefit him indirectly, even if it doesn't "cure" or mediate anything.

I'm looking into genetic testing too for my daughter.

I have filled out all the paperwork and am waiting to hear back from the clinic. We have a referral from her primary Dr. So we have yet to see the details of cost or what insurance may or may not pay.

My daughter has some other difficulties too...visual processing problems and learning disability in math.
She was originally diagnosed with developmental encephalopathy years ago and then recently with ASD. She is 19 now.
Like you, I have been doing a lot of reading on all of this and think it may be beneficial to know if there is a genetic basis for this or not. I have another daughter too and for both of their possibly future children, I think it would be good to know.

Regarding strabismus, I'm sure you have done this, but just in case: have you had his vision tested? My older son had this when he was a baby and glasses corrected it. Farsightedness can cause it so there can be a super simple fix.

We recently (past year) had genetic testing (not whole genome sequencing though) completed on my younger son and we finally got an explanation that actually explains his issues. There is no tried-and-true treatment for the condition and certainly no cure…but there are known treatments which make it *worse* so this diagnosis HAS changed the treatment. I think knowing has indeed altered how my son is treated medically, even without a cure or anything like that, so I would be tempted to disagree with your genetic counsellor. Also, there is something beneficial for my own sanity in truly "knowing".

I guess it depends on how much the procedure costs and how invasive it is. I was very scared to do genetic testing on my son because I thought it would be traumatising for him- but actually, they just drew some blood- it took maybe 1 minute (and for some reason he wasn't even upset by it). If it's simple like that, then it's probably worth it.