Newborn Screening

Screening Platform

In 2017 the Global Platform for the Prevention of Autoimmune Diabetes (GPPAD) has established a screening program, GPPAD-02, that identifies infants with a genetic high risk of type 1 diabetes, enrolls these into primary prevention trials, and follows the children for beta-cell autoantibodies and diabetes. Genetic testing is done either at delivery, together with the regular newborn testing, or at a pediatric visit in 5 countries (Germany, UK, Poland, Belgium and Sweden).

Risk Score

Using a genetic score based on over 40 type 1 diabetes susceptibility single-nucleotide polymorphisms (SNPs) and first-degree family history for type 1 diabetes, infants with a high (>10%) genetic risk for developing multiple beta-cell autoantibodies by the age of 6 years are identified. Over 500,000 newborns or infants have been screened so far. The prevalence of high genetic risk for type 1 diabetes in these infants was 1.18%. Infants with high genetic risk for type 1 diabetes are followed up and asked to participate in a randomized controlled trial aiming to prevent beta-cell autoimmunity and type 1 diabetes. The GPPAD-02 study provides a unique path to primary prevention of beta-cell autoimmunity in the general population.