In 1994 I was diagnosed with celiac disease, which led me to create Celiac.com in 1995. I created this site for a single purpose: To help as many people as possible with celiac disease get diagnosed so they can begin to live happy, healthy gluten-free lives. Celiac.com was the first site on the Internet dedicated solely to celiac disease. In 1998 I founded The Gluten-Free Mall, Your Special Diet Superstore!, and I am the co-author of the book Cereal Killers, and founder and publisher of Journal of Gluten Sensitivity.
This article originally appeared in the Summer 2004 edition of Celiac.coms Scott-Free Newsletter.
Celiac.com 10/27/2004 - I recently decided to have my DNA and that of my son screened for the genetic markers, also known as HLA alleles, which make celiac disease possible. Both my mother and I have long since been diagnosed with the disease, so I naturally worry that my son Spencer may also end up with it at some point in his life. Even though he has been mostly symptom-free for his entire life—all three and a half years of it—last year I subjected him to serological screening after he had a several week bout with diarrhea. We were happy to discover that he did not have it, but I still knew that such tests could not rule the disease out of his future. Even so, it was nice to learn that he did not have the active disease, although a blood draw at two years of age was not exactly a pleasant experience for him—or for his parents! I swore then that I would try to avoid any unnecessary blood draws in the future, even though I knew that it might still be necessary from time to time—unless he somehow did not inherit the genetic markers for it—the idea of which led me to my decision to have Spencers DNA screened for celiac disease.
After mentioning my plans for the DNA screening at a family dinner, my brother also grew interested, as he too has had unexplained symptoms and a recent negative celiac disease antibody panel and biopsy. He too felt that it would be nice to find out once and for all if this was something that he was going to have to worry about in the future. He also pointed out to me that genetic screening had the potential to save him money over the long haul, since the test is only necessary once in a lifetime. Periodic antibody screening for the disease can prove to be quite expensive, and a negative DNA test would effectively rule out the necessity of any future testing. After we finished our dinner that evening I sat down with my brother and we reviewed several offerings on the Internet by companies who provide genetic services for celiac disease, and were particularly impressed by one of them—Kimball Genetics, located in Denver, Colorado, as their DNA collection method did not require a blood draw and instead employed a simple and painless cheek cell collection using a swab.
The next day I telephoned Kimball Genetics and was connected with a very knowledgeable genetic counselor. After a discussion with her about my familys history I decided to order three celiac disease genetic tests, one each for my son, my brother, and myself. I requested three cheek cell collection kits to be sent to my home, where the samples would be collected and sent back to Kimball Genetics for testing. For individuals the cost of a kit is 10% off of $325, or $292.50 per test, and they offer a 20% family discount for testing additional family members, which brings the per test price down to $260. Kimball Genetics also offers assistance with billing your health insurance company, which can often result in the recovery of all or part of the costs incurred for the tests. This includes detailed help with the forms, insurance CPT codes for the procedure, as well as obtaining the ICD9 codes, which are the diagnostic and symptom codes that come from your doctor. At this point I realized that to get reimbursed for the tests a person should first make an appointment with their doctor, and ideally this appointment should take place before actually ordering a test kit. This will ensure that you and your doctor are on the same page regarding the importance and necessity of the genetic tests.
The cheek cell collection kits arrived in the mail within a couple of days, and I phoned my brother to arrange a "DNA collection party" at my house. On collection day we opened the kits to find enclosed two brushes for sample collection, a Test Request Form, a consent form, medical literature regarding Kimball Genetics DNA screening test for celiac disease, and detailed instructions that outlined how to properly collect and mail the samples. The kits also included a stamped return envelope that was pre-addressed to their laboratory. The Test Request Form included an area where one could enter their credit card information, and this form along with the consent form and a check or card information were required to be sent along with the sample in the return envelope.
The medical literature included with the kits comprised of a three page document titled "Celiac Disease DNA Test." The following two sections, which I found to be particularly helpful, are reproduced below from this document, which is also available on their Web site www.kimballgenetics.com:
Indications for Celiac Disease DNA Testing:
Our Celiac Disease DNA Test Service Provides:
The sample collection went very smoothly for each of us, and Spencer found it to be slightly more annoying than having to brush his teeth. We each rinsed our mouths out with water beforehand, and then rolled one brush at a time 20 times over the entire inside surface area of one check, and then did the same on the other cheek with the second brush. We let the samples dry for 30 minutes, and then put everything in their respective packages and envelopes along with the filled out paper work. Our final step was to put them out for the Mail Carrier to pick up. Their literature promised a 3-4 day turn around, and sure enough, both my brother and I got a call from someone at Kimball Genetics several days later who needed our doctors fax numbers, which we had forgotten to include on the paperwork. Once they had this information, a call to our doctors was all that was necessary to have our doctors forward the results directly to us by fax, and we also received the original reports by mail. Amazingly the Celiac Disease DNA Test at Kimball Genetics takes just one business day from the day the lab receives the sample (if it arrives by noon) to reporting of results.
I have to admit that besides hoping that my son did not inherit the genetic makeup that makes celiac disease possible—as the results were printing out from my fax machine—I still held out the very slight hope that they had not found the markers in my genetic sample, and that my whole diagnosis was some sort of big mistake. This hope was quickly crushed as the report indicated that I was in fact part of an elite genetic group—one that carries both markers for celiac disease: DQ2 and DQ8—which I later discovered meant that I inherited genetic traits for celiac disease from both of my parents, rather than just from my mother, which was my original assumption. My father is no longer alive, but after discussing his results with my mother we decided that it is possible that he also had undiagnosed celiac disease, and it is interesting to note that he had diabetes.
I couldnt help but think that my results make me something like a "Super Celiac," although the genetic counselor at Kimball Genetics reassured me that having both markers for it doesnt necessarily mean that the disease will present itself any differently. Spencer turned out to be positive for DQ2, and my brother found out that he too tested positive for both DQ2 and DQ8. On the down side their results indicate that they will need to watch out for any future signs of the disease for the rest of their lives, and probably get screened for it from time to time. On the up side there is still only a small chance that either will ever develop the disease, and at least we will know to watch for its symptoms in the future, which likely would lead to a quick diagnosis and treatment should one of them ever get it.
Ultimately anyone who decides to undergo genetic screening must be comfortable with the results—positive or negative. I advocate testing because I believe in the saying that knowledge is power, and that it is better to know than not to know—especially when it comes to your health. Unlike other testing methods, genetic screening for celiac disease has the amazing potential to reveal whether someone has been misdiagnosed with the disease, even though the odds for such a scenario are small. It also can confirm a diagnosis, or let relatives of celiacs know that they do or dont need to worry about it in the future. My mother felt vindicated by our results, as they indicated that she wasnt the only person who passed celiac genes to her children—my father did too. Who knows, your genetic results may even have the potential to elevate your celiac status, as it did in my case, to that of—Super Celiac!