Deciding To Pursue Genetic Testing - Helpful Or Not?

[funDiva 0]

OK so I've spend the last few days immersed in learning how the genetic tests work and I'm weighing the pros/cons

 

My doc is willing to write any paperwork claiming medical necessity, yet I'm not sure it's worth the hassle.  More than likely my insurance would only possibly cover Quest in-network and they don't actually tell you your results, they just give a positive/negative for HLA DQ2/8

http://www.questdiagnostics.com/testcenter/testguide.action?dc=TS_HLA_Celiac

 

So I'm inclined to go with Enterolab, just the genetic test for $150 since that's the easiest and cheapest option, and would yield the same beta only results as Quest.

 

My out-of-network deductible is $600 and I've racked up zero toward it this year so I'd pay full price anyway for any other lab.

 

somewhere on thefooddoc.com

Laboratories in the U.S. that are known to offer complete alpha and beta subunit genetic testing include Kimball Genetics, Prometheus, and LabCorp. Bonfils, Quest and Enterolab only test for the beta subunit portions and may miss part of a minor alpha subunit that carries a risk of celiac disease.

 

then enterolab counters that citing "linkage disequilibrium"

https://www.enterolab.com/StaticPages/TestToOrder.aspx#Genetic_testing

 

and I will dig for my sources if anyone needs them, I cut & pasted bunches just for my own info

 

So the real question is, for any of you that were in celiac limbo, already gluten-free and unable to test or challenge, did the genetic test help?  Like mentally/peace of mind wise?

 

Or if anyone has hints on how they got insurance to pay or what you paid thru any of the above labs, that'd be great.  I found older info stating Kimball was ~$395, Prometheus $440 but maybe cash discount or pay up front discounts available.

 

 

[SMRI 32]

Why do you need the diagnosis--that is the first question. If you are already gluten-free and seeing a positive response from the diet, I'd save the money and maybe down the road when you do meet your deductible, have the testing done then.  Having the genes doesn't mean you have Celiac, which you know.  My daughter has the genes, but, didn't test positive on anything else.  Her bloodwork won't come back positive even if she does have it because of her immune issues.  Nothing showed up on the biopsies.  She, however, is very symptomatic, way more than I am/was.  Who knows??  

[kareng 2,267]

I used Quest and they do give a very detailed genetic report.  And my insurance covered it with no question or extra work from the doctor. If you have to pay out of pocket - they were about $300.  You can call and ask.  To be fair, while some of that other  place's tests are not considered scientifically valid, I haven't heard that the genetic one is wrong.

[nvsmom 334]

Dr Fasano, a leading celiac disease researcher, sya one needs 4 out of 5 of the following criteria for an "official" celiac disease diagnosis:

1. symptoms of celiac disease while on a normal diet
2. positive blood test
3. positive endoscopic biopsy
4. positive genetic test
5. positive response to the gluten-free diet

To be honest, I would guess that maybe 60% of celiacs meet all those criteria due to resources, cost and need.  I personally skipped the biopsy and was not offered the genetic test so according to Fasano, and some other doctors I've met, I don't officially have celiac disease.  LOL I say, who cares what they say? I meet the most important criteria: a positive response to the gluten-free diet. KWIM?

 

The genetic tests will only tell you if you are part of the 30% of the population who has the genes which over 95% of celiacs possess, it does not tell you if you have the disease.  There is even a rare, small minority of celiacs who do not have those genes but do have celiac disease (they met 4/5 of the criteria) so those genetic tests are not fool proof... although generally accurate.

 

If you have other family members with celiac disease, or with other autoimmune diseases like diabetes (type 1), lupus, rheumatoid arthritis, or thyroiditis, then chances are that you have the genes for celiac disease.... But you still won't have the official diagnosis.

 

Good luck to you in whatever you decide to do.  And continued best wishes for success with the gluten-free diet. Welcome to the board.

[StephanieL 74]

In the absence of other testing, I don't see how it would be worth it.  Is knowing you *could* have something means just that-could.  It is in no way definitive.  If it's - it doesn't mean you don't have an issue with gluten just that it's not Celiac.  

[Cara in Boston 71]

There are also people who don't have the genes but still get celiac.  The genetic test actually slowed down our testing/diagnosis process.  The first MD we saw was skeptical that my son (then age 6) had it since he had no classic symptoms and was average height and weight.  He could not explain the positive blood tests, so he did a genetic test.  The genetic test indicated that he was not likely to develop celiac disease, so he concluded that he couldn't possibly have it.  (even though I tested positive too, and had ALL the classic symptoms.)  This doctor concluded that the initial positive blood test must have been a "lab error".

 

We continued looking and took him to the Celiac Center at Children's Hospital Boston.  They did an endoscopy and found extensive celiac damage.

 

So in this case, the genetic test results were very misleading.  His doctor at CHB doesn't even do them on anyone since they don't really tell you anything.  There are exceptions in both directions (some with genes DON'T get it.  Some without genes DO get it.)  I certainly wouldn't spend any money on it.

[funDiva 0]

Thanks for listening and the input.  After more hours of searching, I found my answer - 23andme for $110.  I am fully aware I'll have to parse the info myself, that's fine.  Plus I can doink around with methylation, ancestry and tons of other interesting tidbits for way cheaper than I woulda paid for any of them individually.

 

It's not perfect, I'm sure the accuracy of the specialized tests is greater, but I can justify $110 for proly as good of info plus more, so this is a happy medium for me.  Their FDA kerfuffle does not concern me.  The minor possible cons I considered are privacy and accuracy [http://liorpachter.wordpress.com/2013/11/30/23andme-genotypes-are-all-wrong/]

 

My kit is on it's way and turnaround is anywhere from 4-8 weeks, I'll report back if anyone is interested.

 

It's silly, I agree, to test for a maybe possible probability only, yet I feel happier and a sense of relief now that I found a way to do this cheap.  So if nothing else, while I'm waiting for results maybe all I gain is a little calm of "I am moving forward in a productive way".  Whatever the results will not change how I'm living, but maybe this will distract me enough while I wait for some real test that will settle it.

 

My attitude going 100% gluten-free was, I can do this for 10 years and within that time they'll proly figure out better testing w/o the gluten challenge.  I'm two years in, I finally within the last few months began to feel better finally finally.  Which is worse: the incessant tedium of everything is poison paranoia and years later find out it wasn't necessary *OR* to not be 100% careful and years later discover I was damaging my health all along?

 

I've never purposefully glutened myself, I figured I'd screw up eventually, but out of the 6-7 times I considered myself glutened, only two were positive/yes there was actual gluten, the rest were possible cross contamination or a food not specifically labeled accurately.  I have contemplated doing a DIY double blind placebo challenge, knowing I'd have to do it when I could afford the 3 day slam/2 week recovery.

 

What if I'm putting myself and my husband thru all this meticulousness for nothing?  What if I'm wrong?  What if I doubt myself because of all the stupid stupid doctors that told me it was all in my head for the past 9 years?

 

/offtopicventrantinmyownthread

 

Append to first post - Kimball no longer does testing, they rolled that test to LabCorp and I found Celiac Disease DNA for $250 that tests HLA-DQA1*05, HLA-DQB1*02 and HLA-DQB1*0302, so that looks suspiciously like private labeled Quest