Type 1 Diabetes

Type 1 Diabetes – Genetic Risk Assessment

Type 1 Diabetes (T1D) is an autoimmune disease with a strong genetic component. According to recent studies, specific genetic variants—particularly within the HLA complex—significantly increase the risk of developing the disease, especially in children with a family history of T1D. Early genetic screening can identify newborns and infants at high genetic risk, allowing for timely monitoring and preventive strategies to help preserve pancreatic function.

The GENOSOPHY® genetic test for Type 1 Diabetes is based on an enhanced polygenic risk score that incorporates 67 genetic variants and 18 HLA DR-DQ haplotype interactions. This improved score is 50% more accurate than older polygenic models and nearly twice as effective as simple HLA typing for neonatal screening. Analysis is performed using GENOSOPHY®’s award-winning algorithm, ensuring high accuracy in estimating genetic risk.

Who should consider this test?

Recommended for:
• Newborns and infants with a family history of Type 1 Diabetes
• Infants with autoantibodies linked to T1D, to assess the risk of disease progression
• Families who wish to know their child’s genetic predisposition and adapt their medical follow-up accordingly

Clinical Benefits of GENOSOPHY®’s Genetic Analysis

Diagnosis

• Improved detection of newborns and infants with elevated genetic risk for Type 1 Diabetes

Prognosis

• Estimation of the likelihood of developing T1D during childhood
• Supports early medical monitoring and follow-up

Management

• Tailored preventive strategies based on the child’s genetic profile
• Family guidance on risk reduction and early lifestyle modifications

Test Procedure

1. Collection of a saliva sample from the newborn or infant
2. Analysis of genetic variants and calculation of risk using GENOSOPHY®’s algorithm
3. Delivery of results in 5–6 weeks

Complementary Services

Based on test results, GENOSOPHY® offers:
• Genetic counseling
• Personalized diet plans based on genetic profile
• Nutritional consultation

Key Reference

1. Sharp et al., Diabetes Care, 2019;42(2):200-207.
   DOI: 10.2337/dc18-1785