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MyCeliacID, from Prometheus Laboratories Inc., is a DNA test for celiac disease that tests for the two genes associated with the condition: HLA-DQ2 (DQ2) and HLA-DQ8 (DQ8).[1][2][3] Through DNA testing for these genes, MyCeliacID can determine whether an individual carries one or both of these genes, which may indicate a higher risk of developing celiac disease.

Prior to the commercial availability of MyCeliacID, DNA testing for celiac disease was generally performed by retrieving a blood sample in a laboratory or clinical setting. MyCeliacID instead employs a technology that enables identification of these genes through a saliva sample provided by the patient in an at-home setting.

The MyCeliacID test was developed in part to address the need to test for both the alpha and beta subunits of the DQ2 and DQ8 genes—both of which convey risk for celiac disease;[3] previous laboratory tests only confirmed presence or absence of the beta subunit.

For people who suspect they may have the disease, MyCeliacID may help them confirm their suspicions, which may in turn be followed by a medically confirmed diagnosis of celiac disease, and the recommendation of a gluten-free diet.

Screening for celiac disease

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In contrast to the other clinical methods available for diagnosing celiac disease—including blood tests, fecal tests, and biopsy—the gold standard,[4] MyCeliacID utilizes saliva to noninvasively test for the DQ2 and DQ8 genes specifically associated with celiac disease. MyCeliacID is an outpatient test during which the individual deposits saliva into a collection tube and then sends the sample to the testing lab, Prometheus Laboratories, located in San Diego, California.

Patients are notified of test results via email, usually within 7 days of receipt of sample by the lab.

MyCeliacID evaluates genes, thus, results are not affected by variables such as age, current disease activity, symptoms, or diet. Accuracy of results from the MyCeliacID test is independent of whether or not the person is already following a gluten-free diet.

MyCeliacID is available online and does not require a doctor’s prescription or order.

Patients place their order via the Internet, which is then reviewed by a licensed California physician who places the order in accordance with state and federal law. After the testing is performed, the physician reviews and then confidentially releases the result to the patient only.

Implications of findings

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A MyCeliacID result indicating that celiac-associated genes are present does not necessarily indicate current or future celiac disease, as multiple factors are involved in the development of disease.

If a MyCeliacID result shows that a patient does not carry the genes for celiac disease, DQ2 and DQ8, they are highly unlikely to develop celiac disease in their lifetime[3]. If the test reveals that they do have the genes, and they are experiencing gastrointestinal symptoms, celiac disease should be considered a possibility and a physician should be consulted for confirmation.

Only a physician or other qualified healthcare professional can make a diagnosis of celiac disease.

Risk stratification

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The results from MyCeliacID provide an estimate of risk for developing celiac disease, as compared with the general population.

This table from MyCeliacID shows the estimated relative risk of developing celiac disease when particular genes are present compared to the general population:

Relative Risk Increased Risk Over General Poplulation DQ Genotype
Extremely high 31x DQ2 Homozygous
Very high 16x DQ2/other high risk gene
Very high 14x DQ2/DQ8
High 10x DQ8 Homozygous
High 10x DQ2 Heterozygous
Moderate 2x DQ8 Heterozygous
Low <1x DQ2/other low risk gene
Extremely low <0.1x DQ2 negative/DQ8 negative

Adapted from the MyCeliacID test report.

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References

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  1. Sollid, LM (2005). "Celiac disease genetics: current concepts and practical applications". Clin Gastroenterol Hepatol. 3 (9): 843–51. {{cite journal}}: |access-date= requires |url= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help); Unknown parameter |month= ignored (help)
  2. "U.S. Census Bureau - Population Finder". Retrieved August 6, 2009.
  3. 3.0 3.1 3.2 Fasano, A (2003). "Prevalence of celiac disease in at-risk and not-at-risk groups in the United States". Arch Intern Med. 163: 286–292. {{cite journal}}: Unknown parameter |coauthors= ignored (|author= suggested) (help)
  4. Fasano A. (May 24, 2007). "Highlights on celiac disease, the "New Kid" on the GI block". Retrieved July 27, 2009.