The efficacy of islet autoantibody screening with or without genetic pre-screening strategies for the identification of presymptomatic type 1 diabetes

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Ezio Bonifacio - , Chair of Preclinical stem cell therapy and diabetes, University Medicine (Faculty of Medicine and University Hospital) (Author)
  • Raquel Coelho - , Educational Research Centre (ERC) (Author)
  • Domenik A. Ewald - , Practice for Paediatric Medicine (Author)
  • Gita Gemulla - , Department of Paediatrics, University Hospital Carl Gustav Carus Dresden (Author)
  • Michael Hubmann - , Practice for Paediatric Medicine Zirndorf (Author)
  • Przemyslawa Jarosz-Chobot - , Medical University of Silesia in Katowice (Author)
  • Mirjam Kohls - , Helmholtz Zentrum München - German Research Center for Environmental Health (Author)
  • Olga Kordonouri - , Children's Hospital Auf der Bult (Author)
  • Vito Lampasona - , IRCCS Hospital San Raffaele - Milano (Author)
  • Parth Narendran - , University of Birmingham (Author)
  • Flemming Pociot - , Steno Diabetes Center Copenhagen (Author)
  • Zdenek Šumník - , Charles University Prague (Author)
  • Agnieszka Szypowska - , Medical University of Warsaw (Author)
  • Jose Zapardiel-Gonzalo - , Helmholtz Zentrum München - German Research Center for Environmental Health (Author)
  • Anette Gabriele Ziegler - , Helmholtz Zentrum München - German Research Center for Environmental Health (Author)

Abstract

Early detection of type 1 diabetes, in its presymptomatic stage, offers significant clinical advantages, including treatment that can delay disease onset. Current screening focuses on identifying islet autoantibody positivity, with proposed optimal testing at ages 2, 6 and 10 years potentially achieving up to 80% sensitivity. However, challenges arise from participation rates and costs associated with multiple screenings. Genetic pre-screening has been suggested as a complementary strategy to target high-risk individuals prior to autoantibody testing, but its real-world benefits remain uncertain. Broad genetic selection strategies, based on family history, HLA typing or polygenic risk scores, can identify subsets of the population at elevated risk. However, these approaches face issues like low recall rates, socioeconomic biases and limited applicability across diverse ancestries. Additionally, the cost-effectiveness and infrastructure requirements of integrating genetic testing into routine healthcare remain significant hurdles. The combined use of genetic and autoantibody testing could improve predictive value, especially with innovations like point-of-care genetic testing. Yet, the ultimate success of any screening programme depends less on specific strategies and more on maximising public and healthcare-provider engagement, ensuring high participation, and addressing socioeconomic and demographic disparities. Digital-health infrastructure may play a crucial role in improving recall rates and maintaining follow-up adherence. In conclusion, while repeated islet autoantibody screening remains the most effective standalone approach, conducting genetic screening prior to islet autoantibody testing may be practical in certain contexts, provided that sufficient resources and equitable strategies are employed. Public engagement and robust infrastructure are essential to realising the full potential of early type 1 diabetes detection programmes.

Details

Original languageEnglish
Pages (from-to)1101-1107
Number of pages7
JournalDiabetologia
Volume68
Issue number6
Publication statusPublished - Jun 2025
Peer-reviewedYes

External IDs

PubMed 40105972
ORCID /0000-0002-8704-4713/work/199962129

Keywords