MetaGenieTM Stool Test for Early Diagnosis of Autism Spectrum Disorder

Objective diagnosis of ASD

• Unlike prior research focusing mainly on bacteria, this test analyzes archaea, fungi, and viruses simultaneously. This comprehensive, multikingdom approach provides a more complete picture of the gut ecosystem's role in autism spectrum disorder.
• The test analyzes microbial genes and metabolic pathways, such as ubiquinol-7 and thiamine diphosphate biosynthesis. This focus on microbial function, rather than just taxonomy, captures functional changes in the gut strongly associated with ASD.
• A panel of just 31 markers from all kingdoms demonstrated superior diagnostic performance (AUC 0.91) compared to single-kingdom models. It maintained robust accuracy across different ages, sexes, and independent cohorts as a non-invasive tool. 

• This stool test offers a non-invasive tool to aid early ASD screening using a simple stool sample. High accuracy across young age groups could enable earlier intervention, which is critical for improving long-term developmental outcomes in children.
• The test pinpoints specific microbial functions linked to ASD, such as reduced ubiquinol-7 and thiamine pathways. This shifts the focus from symptom management to targeting these biological pathways, potentially guiding the development of new microbiome-based therapies.
• By distinguishing ASD from conditions with overlapping symptoms like ADHD, this test addresses a major clinical challenge. Its high specificity could reduce misdiagnosis, leading to more accurate referrals and personalized treatment plans for affected children.

• Silver Medal 49th International Exhibition of Inventions Geneva (2024)
• FDA breakthrough device designation (2024)

• During routine checkups, pediatricians use this stool test for children with early developmental concerns. The result aids timely specialist referral, enabling earlier intervention.
• Child psychiatrists use this test alongside standard assessment to differentiate ASD from conditions like ADHD. The objective biomarker supports diagnostic decisions, reducing misdiagnosis
• Clinicians track gut microbiome changes using this test to evaluate intervention effectiveness. This enables personalized adjustments to therapies, improving both gut and behavioral symptoms.