Exome Sequencing

Rose.9.6.03

Can anybody explain exome sequencing in (relatively) plain English?   DD's genetic counselor informed me via e-mail that the geneticist wants to do this next (we're in year three without a diagnosis).  

 I did a quick google search and got a lot of scientific mumbo jumbo.  I just want to have a basic idea of what it is before I call her back - so that I can have a list of questions ready for her.

 Thanks for your help. 

ArcadianDreams

It's a special type of DNA sequencing and pretty cutting edge. Basically, they will sequence the patient's DNA but instead of looking at *all* of the DNA, they specifically go for the coding sequences - ie, the parts of the DNA that get turned into proteins. Picking out only these parts to look at is kind of like zooming in on a camera...they'll see the data in more detail instead of a slightly fuzzier picture of the whole thing.

Often when they do exome they will do what's called a Trio study, and ask for a sample from you and the father as well (and possibly any siblings). This way they can compare the patient's DNA to look for new mutations or recessive mutations that you could have passed on.

I work in sequencing and it's very up-and-coming. You will probably have to get special permission from your insurance to pay for the test.

Rose.9.6.03

Thank you so much for the info!   Our insurance has paid very little, thus far, so I doubt it will pay for this.  

Is it something you'd be willing to pay OOP for?  Cost isn't a huge issue for us, but I'd rather not pay thousands of dollars for something that's unlikely to produce results.  

duchess0727

Can we talk about this if you don't mind?  This is our next step as well.  Our geneticist wants to wait a little bit - probably until next year.  He said - and maybe pp can comment? - that they are still working out how to communicate the information that we want (underlying condition causing what is happening now) from information that we don't want (like whether something in our genes means we will develop some sort of cancer or something like that in the future).  I have read that they generally test the parents too to ensure they rule out anything that appears to be inherited.  And I believe I've seen that the test is several thousand dollars but that the companies will sometimes work with insurance to get some of it covered.  And when it becomes more commercially utilized - maybe next year - it should be covered by insurance like the microarray.  Would love anymore info you get from your geneticist or counselor! 

Sarah

mommy06

This was suggested to us as well. From what I can gather its the next big step in genetics and while it is very expensive now it will more than likely come down in cost over the next few years. It is also the next step for us. 

realisticdreams

I *think* that's what a blog I follow had done.  They had to raise the money and actually did it within hours through her blog since she has so many followers.

Here are a couple links with info on it.

https://niederfamily.blogspot.com/2012/07/kind-of-answer-maybe.html

 (these explain it, alot)

https://niederfamily.blogspot.com/2011/12/weve-got-some-medical-news-part-1.html

https://niederfamily.blogspot.com/2011/12/weve-got-some-medical-news-conclusion.html

https://niederfamily.blogspot.com/2011/12/thank-you.html 

https://blog.ted.com/2012/07/17/newly-discovered-gene-may-explain-4-year-olds-rare-disease-thanks-to-ted-fellow-jimmy-lin/ 

Rose.9.6.03

I've since talked to a couple of people in the field and I'm still not sure what we want to do.  But both have said that exome sequencing produces a lot of information, but not necessarily answers.  So that we may find that there's a mutation, but not know what it means.

One of my friends (who is a MD/PhD working in a genetics lab) said that she would do it in my shoes.  She thinks that even if we get info now that we don't know what to do with, we'll have those results for the future when somebody finally figures it out.  

I'm not sure what we're going to do right now.   We may be finding a new geneticist because we aren't thrilled with our current one - so we'll see whatever he/she has to say on the matter, too.   

Rose.9.6.03

realisticdreams:

I *think* that's what a blog I follow had done.  They had to raise the money and actually did it within hours through her blog since she has so many followers.

Here are a couple links with info on it.

https://niederfamily.blogspot.com/2012/07/kind-of-answer-maybe.html

 (these explain it, alot)

https://niederfamily.blogspot.com/2011/12/weve-got-some-medical-news-part-1.html

https://niederfamily.blogspot.com/2011/12/weve-got-some-medical-news-conclusion.html

https://niederfamily.blogspot.com/2011/12/thank-you.html 

https://blog.ted.com/2012/07/17/newly-discovered-gene-may-explain-4-year-olds-rare-disease-thanks-to-ted-fellow-jimmy-lin/ 

 

Thanks so much for this!  It's good to hear from a family that's been through it. 

thefuturemrskudla

We are doing this as part of a clinical study, so there's no charge.