FDA Clears GlutenID Test for Easier Celiac Screening

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The FDA has cleared Targeted Genomics’ Direct-to-Consumer GlutenID test for identifying increased genetic health risk (GHR) to develop celiac disease.¹

“The root cause of celiac disease is genetic, but understanding celiac genetics is confusing for everyone, including physicians,” Shelly Gunn MD, PhD, Founder and Medical Director of Targeted Genomics, said in a statement.¹ “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.” After receiving their results, all GlutenID Users are encouraged to consult with a licensed genetic counselor or healthcare provider before making any changes to their diet or lifestyle.

Celiac disease is the most common intestinal autoimmune disease worldwide. The GlutenID GHR Test uses next generation sequencing (NGS) genotyping to detect celiac genetic variants in genomic DNA isolated from at-home collected saliva samples. The test assesses the relevant HLA genetic markers, DQ2, DQ8, DQ2.2, and DQ7, and reports 1 of 15 possible celiac genetic combinations (GlutenIDs), of which all users will have. For positive results, it reports a spectrum of risk, or it reports negative results as Non-celiac Genetics (NCG), which is indicative of a less than 1% chance of developing celiac disease over a user’s lifetime.¹

The FDA’s clearance decision was based off of its analytical performance including accuracy and reproducibility data in User Comprehension Studies performed by Targeted Genimics that showed the testing process and reports to be easily understood by a group of over 300 demographically diverse users.

Other recent research in celiac disease screening found that rates among patients aged ≤ 20 years were low and had significant disparities by age, race, and ethnicity. The research was presented at 2024 Annual North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) Meeting in Hollywood, Florida, from November 7 to 9, 2024.²

The findings revealed an inadequate adherence to celiac disease screening guidelines and screening disparities. Among 223,449 children recommended for celiac disease, only 10% were screened. Older patients (aged 11 – 20 years) were screened significantly more for celiac disease than younger children (aged 1 – 10 years) (13.5% vs 6.7%; P < .001).²

“I would say that the guidelines are really helpful, but they have to be in the right hands,” investigator Debra Silberg, MD, PhD, from Beyond Celiac, told HCPLive.. “So, you need to make sure that primary care physicians are getting it, family physicians are getting these guidelines, can't just be gastroenterologists because by [the] time they get to a gastroenterologist, someone's already thought that they have a GI issue, and so they're presenting to you as a gastroenterologist, and a lot of the guidelines are from GI societies. We need to get these into the general physician population, so primary care physicians, family physicians.”

REFERENCES
1. Targeted Genomics Receives FDA Clearance for First Direct-to-Consumer Celiac Disease Genetic Health Risk Test. News release. Targeted Genomics. February 17, 2025. https://www.globenewswire.com/news-release/2025/02/17/3027239/0/en/Targeted-Genomics-Receives-FDA-Clearance-for-First-Direct-to-Consumer-Celiac-Disease-Genetic-Health-Risk-Test.html

2. Miller, E, Avery, K, Ratner, A. Insufficient Adherence to Celiac Disease Screening Recommendations With Disparities By Race, Age, And Presenting Condition. Presented at NASPHGAN 2024 in Hollywood, Florida, from November 7 – November 9, 2024.