Thursday, January 28, 2010

What about genetic testing?

In my post about how it's necessary for me to do a gluten challenge to get a celiac diagnosis, I didn't mention anything about another form of celiac disease testing I had originally considered: gene testing.

Genetic testing for celiac disease determines if you are genetically predisposed to contract it. It will never tell you if you actually have it - just that you could some day get it. It even helps determine how likely you are to get it, based on whether you have one or both genes (DQ2 and DQ8). However, gene testing is most useful for ruling out whether it is possible for you to get celiac disease or not. If you have neither of the genes, it is extremely unlike you'll get it. Some believe it is also possible to tell your potential for having a gluten intolerance as well.

Points in favor of gene testing: it's quite easy - it can be as simple as a swab of saliva from your mouth or some bloodwork. And, best of all - there is no change in diet required. If you haven't started a g-free diet fine, and if you are already on it, fine too. Since it's in your DNA, you can't ruin the results.
 

Still, my GI said it didn't make sense for me to get gene tested since I already know I have a problem with gluten. It would make sense for my children someday, though, since celiac disease (and many believe gluten intolerance as well), is hereditary.

I was a little disappointed at not getting the gene testing, because I find it so fascinating. I want to know which of the genes I have. I might do it someday just to satisfy my curiosity, especially if the blood work and biopsy come back negative for celiac disease.  If it turns out my insurance won't cover it, there are still options. Enterolab is one website that offers gene testing and various other types. Has anyone tried it? What did you think?

I recently read an article on celiac.com about gene testing that included some interesting learnings about what to look for in the gene test, what questions to ask, etc. You can find the article here: Ten Facts about Celiac Disease Genetic Testing

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