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Hommel, A.* ; Haupt, F. ; Delivani, P.* ; Winkler, C. ; Stopsack, M.* ; Wimberger, P.* ; Nitzsche, K.* ; Heinke, S.* ; Naeke, A.* ; Ceglarek, U.* ; Thiery, J.* ; Bergert, R.* ; Stadthaus, D.* ; Groeger, K.* ; Heubner, G.* ; Schramm, U.* ; Dziambor, U.* ; Zirkel, A.* ; Kiess, W.* ; Mueller, I.* ; Lange, K.* ; Berner, R.* ; Bonifacio, E.* ; Ziegler, A.-G.

Screening for type 1 diabetes risk in newborns: The Freder1k pilot study in Saxony.

Horm. Metab. Res. 50, 44-49 (2017)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
An increased risk for type 1 diabetes can be identified using genetic and immune markers. The Freder1k study introduces genetic testing for type 1 diabetes risk within the context of the newborn screening in order to identify newborns with a high risk to develop type 1 diabetes for follow-up testing of early stage type 1 diabetes and for primary prevention trials. Consent for research-based genetic testing of type 1 diabetes risk is obtained with newborn screening. Increased risk is assessed using three single nucleotide polymorphisms for HLA DRB1*03 (DR3), HLA DRB1*04 (DR4), HLA DQB1*0302 (DQ8) alleles, and defined as 1. an HLA DR3/DR4-DQ8 or DR4-DQ8/DR4-DQ8 genotype or 2. an HLA DR4-DQ8 haplotype and a first-degree family history of type 1 diabetes. Families of infants with increased risk are asked to participate in follow-up visits at infant age 6 months, 2 years, and 4 years for autoantibody testing and early diagnosis of type 1 diabetes. After 8 months, the screening rate has reached 181 per week, with 63% coverage of newborns within Freder1k-clinics and 24% of all registered births in Saxony. Of 4178 screened, 2.6% were identified to have an increased risk, and around 80% of eligible infants were recruited to follow-up. Psychological assessment of eligible families is ongoing with none of 31 families demonstrating signs of excessive burden associated with knowledge of type 1 diabetes risk. This pilot study has shown that it is feasible to perform genetic risk testing for childhood disease within the context of newborn screening programs.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Genetic Risk Testing ; Type 1 Diabetes ; Newborn Screening ; Hla ; Islet Autoimmunity
ISSN (print) / ISBN 0018-5043
e-ISSN 1439-4286
Journal Hormone and Metabolic Research
Quellenangaben Volume: 50, Issue: 1, Pages: 44-49 Article Number: , Supplement: ,
Publisher Thieme
Publishing Place Stuttgart
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Diabetes Research Type 1 (IDF)