JAMA
Screening beyond family history: Early testing detects most future type 1 diabetes cases
Clinical Takeaway: Population-based screening for early-stage type 1 diabetes in children appears feasible in routine pediatric practice and identifies most children who later develop clinical disease. The findings support broader screening strategies beyond family-history–based testing and may help facilitate earlier intervention and use of emerging disease-modifying therapies.
Type 1 diabetes can begin years before the onset of clinical symptoms, with islet autoantibodies detectable during presymptomatic stages of disease. Earlier identification of stage 1 or 2 type 1 diabetes may allow closer metabolic monitoring, family education, and reduced risk of diabetic ketoacidosis at presentation, while expanding opportunities for disease-modifying therapies intended to delay progression to stage 3 disease.
Investigators in a large population-based study screened more than 220,000 children for islet autoantibodies associated with presymptomatic type 1 diabetes and identified early-stage disease in 0.3% of participants. Most children had stage 1 disease, while a smaller proportion had stage 2 disease with dysglycemia.
During a median follow-up of 5.7 years, screening identified 81% of children who ultimately progressed to stage 3 clinical type 1 diabetes. The estimated 5-year progression rate from early-stage to clinical disease was 36.2%, with progression occurring at an annualized rate of 9.6%.
Repeat screening also identified additional children who initially tested negative, supporting the potential value of rescreening later in childhood.
Progression rates were similar in children with and without a first-degree family history of type 1 diabetes. Most children who later developed clinical disease did not have an affected relative, suggesting that family history–based screening strategies alone would miss many future cases.
“These data show that screening in the general population makes sense,” said Christiane Winkler, PhD, lead scientist at Helmholtz Munich and first author of the study. “If we only test children with a family history of type 1 diabetes, we miss the majority of children who later develop stage 3 type 1 diabetes.”
Source: Winkler C, et al. (2026, May 21). JAMA. Screening Children for Early-Stage Type 1 Diabetes