FDA clears first direct-to-consumer celiac disease genetic test

Targeted Genomics has secured U.S. Food and Drug Administration (FDA) clearance for the first direct-to-consumer (DTC) genetic health risk test for celiac disease, a milestone that could shift how patients screen for the autoimmune condition. The company’s GlutenID test, which identifies genetic markers linked to celiac disease, allows consumers to assess their genetic predisposition with a simple saliva sample.

The FDA’s 510(k) clearance confirms the test’s accuracy and reproducibility, as well as its usability among a demographically diverse group of 300 individuals.

The test analyzes key human leukocyte antigen (HLA) genetic markers — DQ2, DQ8, DQ2.2 and DQ7 — associated with celiac disease and classifies results along a spectrum of risk. A negative result, categorized as non-celiac genetics (NCG), indicates a less than 1% lifetime risk of developing celiac disease.

“The root cause of celiac disease is genetic, but understanding celiac genetics is confusing for everyone, including physicians,” said Shelly Gunn, MD, PhD, founder and medical director of Targeted Genomics.

“Our task in developing GlutenID was to simplify the testing and interpretation of celiac genetics, allowing anyone to know their inherited genetic risk for developing celiac-related gluten sensitivity. Knowing the risk can help with diagnosis as well as treatment and prevention of celiac disease through a gluten free diet.”

Celiac disease — which affects roughly 2 million Americans and about 1% of people around the world — is notoriously underdiagnosed. In part, this is due to its varied and sometimes vague symptoms, ranging from gastrointestinal distress to fatigue to mental health conditions. Current diagnostic pathways often involve serologic testing followed by biopsies of the small intestine, but genetic testing can help rule out the disease in some cases. Those without the necessary HLA markers have an extremely low likelihood of developing celiac disease.

As is the case with any at-home test, some patients may interpret their test results without the guidance of a physician and form their own conclusions. For this reason, Targeted Genomics encourages GlutenID users to consult with a health care provider or genetic counselor prior to implementing any dietary or lifestyle changes.

The test is now available for purchase directly through the company’s website.