Genetic Carrier Screening (sort of a rant)

momousekee

So I went to see the hospital's genetic counselor, because that's how you get your NIPT done. They handle the integrated screen (NT) and cffDNA testing for my hospital. 

I got a lot of pressure (and what felt like fear mongering) to have my spouse tested for ethnically-likely diseases. Specifically, he's Jewish and I'm not, which makes our combined odds tiny. Fine, whatever. My insurance covers genetic testing 100% and the 9 diseases they want to test for seems pretty reasonable. The paperwork came out for Recombine (a 300+ disease test), which is out of network, so I'm on the hook for the full price and I don't like their patient data handling. 

Is this becoming the new standard of care? It feels like over-testing, and kind of late in the process at 10.5 weeks. I really wish someone had mentioned this at my 3 pre-conception counseling appointments when I had time to think about it.  

mrslittlemac

Yikes, I'm so sorry it went down like that for you. I have heard sometimes calling and explaining your circumstances they will lower the initial bill. I don't know about that specific test, but could be worth a shot!

KRB22

Lurking from Jan...

My husband and I recently met with a genetic counselor because the bloodwork they did along with my NT scan came back abnormal. I was similarly put off by the whole experience, and especially the fact that she seemed to be pushing lots of additional, unrelated testing on us. I had been seeing an RE and as part of the intake had already had that Recombine screen done, but this genetic counselor wanted us to do something different, and apparently more sophisticated. We had also gone through each of our family histories and she actually suggested tests that my SIL should do?! Sorry, but my concern here is the health and wellbeing of my baby, not my 50 yo SIL who is done having babies and is also completely capable of making her own medical decisions. 

I asked flat out whether any of the additional tests bore any relationship to the results we already had, and since the answer was no we declined everything else. I'm not sure if this stuff is being pushed purely for money/profit or if it's just that the testing is more accessible now so the genetic counselors figure why not? Anyway it seems like a slippery slope. 

I agree you should follow up with the lab/doctor office/insurance company and see if there's a way to reduce your responsibility for the test, especially since you were led to believe it was covered. I had to pay something OOP for Recombine, I think $150, but I don't remember if that's because it wasn't covered or because I hadn't met my deductible yet. 

sunshine2417

Thank you for your insight, @KRB22! I'm going in and they're doing our bloodwork this Thursday, so I'm trying to read up on everyone else's experiences so we have some idea going in! 

@momousekee did they basically just say you have to do the Recombine test or offer it as an option in conjunction with/instead of the 'first trimester screen'? What DH and I decided is that it truly just comes down to what you will do with the information. For us, the information is solely going to be used to help us to prepare better for baby, so we're just doing the initial blood work and screening for Down's and the percentages of likelihood for various diseases, but I don't think we will do more specific testing from there. I also will 100% accept that I may sound like I don't make sense at all because we didn't sit down with any genetic counselors and I honestly don't even fully understand it all myself yet. 

KRB22

@TeacherMom2517 I basically have the same outlook on the prenatal genetic screening. I think a good genetic counselor should be able to objectively help you make these decisions, but you should be prepared to be your own advocate as well. 

For example, I also asked what the implications of a positive screen were for various tests she suggested. For some, there was no way to make a conclusive diagnosis prenatally, and also not much to be done ahead of time, so we didn't see any point. That sort of test would just create uncertainty and (probably needless) worry for us. 

I get why an RE does the genetic carrier screening - if you are going to have some sort of fertility treatments it makes sense to know about this sort of stuff ahead of time. But I'm not sure I see the benefit once you're already pregnant, unless you are in a particularly high risk situation, eg, family history of genetic disorders, both partners are of Eastern European descent, etc. 

Good luck with your appointment this week!

momousekee

@TeacherMom2517 It was separate from the first trimester screen. I knew from the intake phone call that they wanted to do Jewish carrier screening on my husband. The explanation then was that if something popped positive, they'd screen me and we didn't even get as far as discussing testing the fetus - it was in a nebulous "we'll cross that bridge when we come to it." 

I'm not mad about the genetic screening - meh, whatever. I'm mad that we were given orders for a test different than the one I consented to. 

It's my understanding that the genetic counselors do get a kickback on the testing, and I think they work from a "how could more knowledge be bad?" perspective. 

MrsDramaK

@momousekee I can't speak to the pushing tests, my doctor did recommend I get the genetic blood screening even though I'll be well under 35 at birth, but I had a previous loss so he's pretty much just offering anything to reassure me that he can.  

As far as the Jewish tests go, I'm Jewish by birth, but DH converted.  The doctor still recommended those tests because even if somewhere along the way one Jew married into the family somewhere along your lineage and reproduced you could risk being a carrier.  There was a whole community of Spanish Catholics in the US who were suddenly giving birth to children with Tay Sachs.  Turns out their ancestors had been converted to Catholicism during the Spanish Inquisition and they were all descended from Jews.  Low risk doesn't mean no risk.

momousekee

Low risk totally doesn't mean no risk. 

On the other hand, if I can't mitigate risk - what's the point of testing for it? And if my marginal risk is still high, because they haven't yet identified enough mutations - that isn't a test that provides useful information. 

I'm all in favor of everyone getting the testing they and their doctors want. All I want is transparency in the tests that are ordered and the financial arrangements between the ordering physician and the testing lab.