Feasibility of Fast Turnaround Genetic Screening for Type 1 Diabetes Risk in Newborns—Recruiting Infants for the Global Platform for the Prevention of Autoimmune Diabetes Primary Prevention Study Supplementation with B ifidobacterium infantis for Mit

Abstract Screening using polygenic risk scores can identify infants at increased risk for islet autoimmunity and type 1 diabetes. The Supplementation with B ifidobacterium infantis (EVC001) for Mitigation of Type 1 Diabetes Autoimmunity study is a primary prevention study that enrolled infants aged between 7 and 42 days with an elevated genetic risk for type 1 diabetes identified through newborn screening. Here, we describe the screening process that enabled timely genetic risk assessment and enrolment into the Supplementation with B. infantis (EVC001) for Mitigation of Type 1 Diabetes Autoimmunity clinical intervention study within the required enrolment window. Screening was conducted in Belgium, Germany, Poland, Sweden, and the United Kingdom. Among 257,784 screened newborns included in the analysis, 3,309 newborns (1.3%) had an eligible genotype associated with a>10% risk of developing early-stage type 1 diabetes by 6 years of age. Samples were collected at a median age of 2 days (interquartile range, 0–3), registered at a median age of 9 days (interquartile range, 6–11), and genotyped at a median age of 21 days (interquartile range, 18–24). Study sites received validated genotyping results at a median age of 22 days (interquartile range, 19–25). Consultation visits occurred at a median age of 29 days (interquartile range, 25–34) and enrolment into the Supplementation with B. infantis (EVC001) for Mitigation of Type 1 Diabetes Autoimmunity study took place at a median age of 38 days (interquartile range, 35–41). Overall, 1,149 eligible infants were enrolled into the Supplementation with B. infantis (EVC001) for Mitigation of Type 1 Diabetes Autoimmunity study (34.7% of eligible infants). These findings demonstrate the feasibility of accelerated genetic screening programs and show that newborn screening workflows can be completed within the first 6 weeks of life to support timely enrolment into early intervention trials.