Dna Testing..worth It?

[foodiegurl]

I feel like I have done so much reading and now I am getting everything I read confused.

I know I have read that you can get the DNA testing to be sure if you really do have Celiac. If my blood work was all positive for it, but I refused the biopsy, is it worth it to get the DNA test? I am 36, of that helps. My Dr said he would not do it...though I am pretty much sure I am going to switch Drs.

My daughter is 4, and at her physical next month, I am going to ask to get her tested. I can see where the DNA test would help for her, since I really doubt she has it now. But does it make sense for me?

Thanks!!

Anne

[psawyer]

My own answer would be, if you already have a positive diagnosis through blood testing, then a DNA test won't tell you anything you don't already know. But for your daughter, it might indicate whether she has the predisposition to develop celiac disease at some point.

[Jestgar]

I would say no. The genes they test for are associated with celiac disease, not directly linked. Some 30% of the population (of European descent) will have the same genes, and most of them do not have celiac disease.

The results of the gene test are interesting, but not informative.

[Mother of Jibril]

A DNA test can't give you a diagnosis of celiac disease (or any other disease, for that matter)... it only gives you an indication of risk. That being said, I think there are some cases where it is very useful to get a DNA test...

1. In situations where a diagnosis is difficult or impossible. In my own case, for example, I went on a gluten-free diet after some misguided advice by an allergist. I had already been gluten-free for six weeks by the time I realized I should get tested... and by then it was too late. I came up negative. If I wasn't willing to stick with a 100% gluten-free diet (which I am... because I feel SO much better) then I would do a gluten challenge for three months and get myself tested again. IMO, if you have one of the "celiac genes" then you should either go on a gluten-free diet or make a commitment to get tested on a regular basis.

2. To assess the risk of celiac disease for other generations of your family (parents, kids, etc...), since celiac disease has a strong genetic link. Based on my DNA test I was able to convince my mom to get tested for celiac... her results came back positive. I'm testing my daughter next.

3. To assess your risk for other disorders that cluster with the HLA-DQ genes. For example, DQ8 is associated not only with celiac, but with type I diabetes and rheumatoid arthritis. DQ7 (my "non-celiac" gene) is associated with cow's milk intolerance, thyroid disorders, grass and pollen allergies, fungal sinusitis, narcolepsy, and lupus. You might be able to save yourself a lot of time, money, and heartache by knowing your risk factors. It took fifteen years for someone to realize that I should be tested for a thyroid disorder

#1 doesn't apply to you... a positive blood test means you have celiac disease! But... you might find #2 and #3 to be of some benefit. It really depends on your individual situation.

[playin-d-fiddle]

Related question,

Say, for instance, someone with all of the symptoms for years is finally blood tested and the antibodies are present. This person is sent home by her "doctor" (he was in fact a real doctor, just an idiot) with a website in hand and no other information or advice. No mention of biopsy. Nothing. I go completely gluten-free that DAY, and begin to do research. This is now 2 years past and I want to have a definitive diagnosis of Celiac Disease for the future possibilties of Celiac and insurance. I absolutely cannot eat wheat again. I will be at death's door ill, lose my job, the whole fun shebang if I do the 3-month-kamikaze reintroduction of wheat. But I must be diagnosed officially.

From all of my research I've learned that the blood test only shows gluten sensitivity, not that it can diagnose the presence of actual Celiac Disease (in comparison to gluten allergy and/or sensitivity).

In this instance, is the gene test not considered a diganosis? It really just gives an indication of risk? From what I've looked into so far, I was under the impression that the gene test was a way to actually medically diagnose full-on Celiac.

(I'm looking for opinions (or people that are medical professionals of course!). I'm the only one in my life that is gluten-free so my conversations are rather one sided )

Thanks!

-Gluten-free and Fiddlin

Seattle

[playin-d-fiddle]

Ok, now I just think I'm wrong on all counts! hahaha

Take the story above and someone please tell me the best way to get the closest to a diagnosis, in their opinion.

How does someone who cannot ever again have wheat be "diagnosed" Celiac.

thanks

[ang1e0251]

Sounds to me like you have been diagnosed. Your blood test was positive and your dr dx'd you with celiac disease. Gluten intolerance cannot show on any test. You only are going to make the antibodies if you have an autoimmune response. The genetic tests can tell you what genes you have but that is not a diagnosis of the disease. Just because you have the genes doesn't mean you actively have the disease. Your blood test did that.

The other part of that diagnosis is the positive response you've had to the gluten-free diet. Many allergists would accept the blood test and dietary response as positive dx.

Of course I'm not a dr. Am I correct? Anyone else that can verify or correct my response?

[caek-is-a-lie]

Often diagnosis is made from a combination of positive diet results and genetic predisposition. The blood test and bioposy aren't always 100% and every doctor seems to have a different preference for diagnosis. But I agree with ang1e...it sounds like you already have a diagnosis. You're way ahead of me with a positive blood test. You can order the gene tests yourself online if you feel it will help your case. I did...I'm waiting for the results (and trying to be patient! lol) Like you, I'd be really bad off if I did a gluten challenge. My doctor does not recommend it. She only needed my great results from a gluten-free diet to tell her I was gluten intolerant. The gene test is just for my own piece of mind since I have a son and want to know what his risk is as well. I also have Narcolepsy and the HLA types for the 2 disorders seem to be similar and I have some questions I want answered about those, too.

PS: Fiddlin in Seattle sounds like fun! Need a guitar in Portland?

[VioletBlue]

I was diagnosed with Celiacs via blood test medical history and response to diet. I went ahead with the gene test because I was the youngest of four siblings and the only one to "show" gluten sensitivity and I was wondering why. I did it purely for me; not to confirm or disprove anything or anyone.

I found through the DNA test that I have a double copy of the DQB1 0602 gene which pre-disposes those with it to more neurological than digestive symptoms. This completely fit my ten plus years worth of symptoms. It may also explain why I am the only sibling so far affected. If indeed both my parents carried just one copy than the expected percentage of children receiving a double copy would I believe be 1 in 4. But since both my parents are dead there is no knowing for sure. They also believe that a double copy is more likely to assure Celiacs develops than a single copy would.

They are learning more and more every day about just what particular genes do. They know for instance that the B1 0602 variant is a protective gene for Type 1 Diabetes while some other variants of DQB1 have the opposite effect. This may also explain why there is zero history of type 1 on both sides of my family.

I'm of the opinion that more knowledge is always a good thing. If you decide to have the gene test done, take the information you get from it and google the gene type and learn more about yourself.

[VioletBlue]

Ohhhh, wanna bet I can guess your gene type, LOL. One of the things I keep coming across when I google DQB1 0602 is a "striking association" their words not mine, with Narcolepsy.

I also have Narcolepsy and the HLA types for the 2 disorders seem to be similar and I have some questions I want answered about those, too.

PS: Fiddlin in Seattle sounds like fun! Need a guitar in Portland?

[dadoffiveboys]

I would say no. The genes they test for are associated with celiac disease, not directly linked. Some 30% of the population (of European descent) will have the same genes, and most of them do not have celiac disease.

The results of the gene test are interesting, but not informative.

I completely disagree with the gene test part. I am finding that with ONE copy of a celiac gene, any one of my children with that gene have gluten problems - you are right in not having 'celiac'.. but they WILL have a gluten problem! Do I think that 40% of the population has a problem with Gluten then? Absolutely YES! The gene test seems a better diagnosis than all the blood tests, and biopsies we did which showed nothing! Being so young, it's almost impossible to ask "is your stomach hurting or what is wrong?" I will say the blood tests are useless. I have friends who are 'positive' for celiac yet have no 'symptoms' so they said "heck with it" and continue to eat gluten. My blood tests are negative and I have a huge response from the diet, so I will never eat it again. What does this mean? Dunno - but the medical tests aren't very good. We also need to make more things gluten-free so that those that are predisposed will more easily be able to find gluten-free things to eat and more likely to stay gluten-free. HOWEVER, having one of the celiac genes I am finding that 100% (yes.. that is a 100%) of my kids with the gene have gluten problems. NOT full blown celiac, but many many other related problems. Completely 100% cutting out gluten in them has made their life MUCH better and I know at doing this when they are small (all five <8 years old) I will be saving them many problems later in life. If only I had known this maybe I wouldn't be so overweight and have back trouble.

My dad was diagnosed with Kidney failure and heading towards kidney dialysis (negative for celiac...) I convinced him to go on a gluten-free diet - it has REVERSED. He will no longer need dialysis. The doctors at Georgetown Hospital (experts supposedly) REFUSE to accept that the gluten-free diet is the cause of him getting better. Now instead of him dying, he will live. But, why are the tests negative? Also we only have one celiac gene - DQ8 - but WHOEVER has this gene has a problem with Gluten. Maybe it is different with the DQ2 - not sure. I have a DQ4 gene as well - so I know it's my DQ8 causing all of my problems - since the DQ4 is the only gene NOT related to gluten problems. This makes a very interesting case too because I am very sensitive (<5ppm) to gluten yet I only have one copy of a 'celiac' gene.

Third son had failure to thrive, ran all the tests, Doctor (head of Gastroenterology at UVA) said it sounded like celiacs but refused a diagnosis when the tests were negative. Took him off gluten, almost immediately he reversed, so much show it even shows up as a spike on his growth charts. He also has the DQ8 gene via genetic testing and a DQ5 as well.