Anybody Do Whole Exome Sequencing Testing? Updated with Results

[Crimson Wife]

Both the general pediatrician and the pediatric neurologist are recommending it. We had some basic genetic testing done in late 2011 after the autism diagnosis and then the OtoScope hearing loss panel in 2015. We've hit our deductible and are close to hitting our OOP max for the year so I decided to go ahead and have the WES done for DD.

 

The specialty lab that does the WES is pushing really hard for DH and I to be tested as well. They are claiming that it will be more accurate and reduce the chances of "variance of unknown significance" results. I hate to go on a "fishing expedition" though.

 

PM me if you feel more comfortable responding that way.

 

UPDATE:

 

Well, we finally have an answer for the developmental disabilities. It is a mutation in the ASLX3 gene and may be a syndrome called Bainbridge-Roper. The neurologist referred us to a geneticist for family testing and further information as it's out of her area of expertise.

 

It does explain so much- the speech & language delay even beyond the impact of the hearing loss, the hypotonia, the failure-to-thrive as a baby, sleep issues, and others.

 

I am very glad that we went ahead with WES.

Edited September 5, 2017 by Crimson Wife

[PeterPan]

If they're willing to test all of you, might as well, especially since you've already hit your deductible.

[Guest]

We haven't had it so I'll just link this I found in case you haven't come across it:

 

https://www.autismspeaks.org/blog/2013/02/26/genetic-discoveries-improved-diagnosis-treatment

 

It appears to be encouraged as part of a study and may benefit you if you are looking at having more children. I'm not sure how beneficial it would be to your daughter at this stage though! I would want to know of what benefit it would be, first. It is just a blood test though, so at least it is not invasive. Hope you get some btdt responses!

[kbutton]

I have not. We had some limited genetic testing done to confirm something with my son, but it wasn't anything that extensive.

 

I would want to know how the information could be used in the future and see how comfortable I am with that before I took the plunge. What are the current laws about genetic information? Are there pushes to force people to fork this information over to insurers, etc.?

 

I would also want to be sure I have things like life insurance and disability insurance squared away. As I understand it at this point, they can discriminate based on things you know about yourself (and can do some limited tests, like bloodwork and weight checks), but they can't really take family history into account. 

[maize]

As quickly as genetic sequencing abilities are developing, I wonder if waiting a couple of years would make this technology significantly less expensive?

[Cake and Pi]

We didn't do WES as our geneticist feels it's too expensive and doesn't presently have a high enough diagnosis yield rate.  We've done like 5 panels so far for DS#4 though, which actually adds up to about what WES would be through insurance.  The most recent panel had a variant of unknown significance so DH and I were each tested for that single gene change as a free follow-up service by the lab.  

[Crimson Wife]

The lab must be out-of-network because the cost-share the lady quoted was insanely high (~$1100). She is going to check with their financial assistance department to see if they can adjust their fees any but if they can't get our cost down, I'm going to pass on the testing for now.