Genetic test tubeNowadays it seems like everyone is talking about gluten, and this previously obscure protein has become public enemy number one. From celebrities to best-selling authors, advocates of a gluten free diet are insisting that gluten is poison for our bodies and that it is the root cause of many disorders that plague Western societies. Whether or not we should all be giving up gluten is still up for debate, but one thing that’s clear is that eating gluten is very harmful for those individuals with celiac disease.

What causes celiac disease?

Celiac disease affects 1/100 people and is characterized with an inappropriate immune response to gluten found in wheat, rye, and barley. This leads to inflammation that can seriously damage the gastrointestinal tract and can even lead to certain cancers. Therefore, it is important to be able to identify individuals with celiac disease in a reliable and cost effective manner.

How is celiac disease treated?

Traditionally, celiac disease is diagnosed by a combination of two methods, a blood test that looks for elevated levels of antibodies that are associated with an immune reaction to gluten, and a biopsy of the small intestine to indicate intestinal damage. An individual is advised to begin a gluten free diet only after both of these tests are positive, and eliminating gluten prior to testing can compromise results. Alternatively, a genetic test can be used as an effective new method for determining whether an individual is at risk for developing celiac disease and provides certain advantages over traditional diagnostic tools. For one thing, it is not affected by gluten in the diet, so an individual does not have to revert back to eating gluten if they have already eliminated it from their diet. The genetic test is also powerful because it can tell whether someone is at risk for developing celiac disease before they exhibit any symptoms and it only needs to be done once per lifetime since our genes don’t change.

Most individuals that seek treatment for celiac disease report having symptoms like abdominal pain and diarrhea, however, inflammation and poor nutrient absorption may lead to various other symptoms including anemia, osteoporosis, rashes, defects in enamel, chronic fatigue, joint pain, poor growth, delayed puberty, infertility, migraines, depression, ADHD, and epilepsy. This makes properly diagnosing celiac disease quite difficult and estimates suggest that only 10-15% of those with celiac disease are actually diagnosed. Almost 95% of people with celiac disease have specific genetic variants of the HLA (human leukocyte antigen)-DQ genes. These genes are involved in immune system function by identifying foreign invaders from one’s own proteins, and versions common in people with celiac disease are believed to be especially sensitive to gluten. While it is virtually impossible to develop celiac disease without these genes, they are also found in 40% of the general North American population. It is still unclear as to why celiac disease only develops in some of these people but it is likely to be influenced by a combination of other genes and environmental factors.

Therefore, having a positive genetic test does not mean that someone has celiac disease, only that they are at an increased risk of developing it, and a follow-up biopsy will likely be necessary to confirm diagnosis. The real power of the genetic testing strategy is that a negative genetic test is useful for the lifelong exclusion of celiac disease. This can lead to significant healthcare savings since those that have a negative genetic test can avoid unnecessary biopsies.


If you would like to learn more about the way your body responds to drugs, continue reading this related blog post: “How To Choose a Genetic Testing Provider”.

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Author: Antonia Borovina

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