Genome sequencing

preggersINschool25

I had my appointment with a genetic counselor today and it was kind of a bust. They went over his microarray results. They said they weren't sure if his duplication was clinically significant or if it meant nothing. They want to test my husband and me for the duplication and if we have it then they conclusion they would draw is that it is NOT significant, and then they would do a genome sequencing.

The problem with that is it will be May before we get the results of our test and then if the genome sequencing needs done that takes 4 months. Then we are looking at September or October before we have the possibility of having answers. If they find nothing then we would still be doing other things to look for answers, this includes possibly doing a spinal tap.

So now I'm thinking they should just go ahead with the genome sequencing. I wasn't given that option, but I figured I could ask and go from there. It would be less time we have to wait and I think I would want to know if there was something more going on regardless of how my husband and my results turn out.

Does anyone have any experience with this? Any advice? Any resources for me to check out?

realisticdreams

No personal experience other than knowing that genome sequencing isn't generally covered by insurance as it's a fairly new thing.  (Even 3 years ago microarray wasn't considered the 'normal' go to approach, now it is.)  Genetics is constantly evolving. I know a few people in the, wait a few years boat to do the sequencing and save a lot of money.

Did they speak with you about the financial implications of the sequencing? If you google uncommon sense blog and genome sequencing you will probably find her post where they took donations from readers to pay for maya's sequencing, it was a few grand and that was with a hefty discount from the hosptial. 

gimmietimmies

We're still waiting for approval go have the testing funded for ds as it's not covered by anything. We've been waiting two years since the took the samples, since then the price has come way down, its just under $10,000 now. There is a race on to be able to market it for $1,000 retail in actual costs, there is a huge bursary for whichever group is able to do that first, like in the millions. Our genetist thought in the next year this would be possible.

As to knowing where to get more info, genetics is a specialty we're new to, I don't have many resources yet.  

mommyof4boys

My youngest and my husband share the same genetic change.  We were told to ignore anyone who says it isn't clinically significant.  IMO, they are syndromes for a reason.  Their symptoms are vast.