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Horm Metab Res 2018; 50(01): 44-49
DOI: 10.1055/s-0043-120921
Endocrine Care
© Georg Thieme Verlag KG Stuttgart · New York

Screening for Type 1 Diabetes Risk in Newborns: The Freder1k Pilot Study in Saxony*

Angela Hommel
1   DFG-Center for Regenerative Therapies Dresden, Faculty of Medicine, TU Dresden - AG Bonifacio, Dresden, Germany
,
Florian Haupt
2   Institute of Diabetes Research, Helmholtz Zentrum München, and Forschergruppe Diabetes, Klinikum rechts der Isar, Technische Universität München, Neuherberg, Germany
,
Petrina Delivani
1   DFG-Center for Regenerative Therapies Dresden, Faculty of Medicine, TU Dresden - AG Bonifacio, Dresden, Germany
,
Christiane Winkler
2   Institute of Diabetes Research, Helmholtz Zentrum München, and Forschergruppe Diabetes, Klinikum rechts der Isar, Technische Universität München, Neuherberg, Germany
,
Marina Stopsack
3   Institut of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Dresden, Germany
,
Pauline Wimberger
4   Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
,
Katharina Nitzsche
4   Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
,
Sophie Heinke
5   Department of Pediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
,
Andrea Naeke
5   Department of Pediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
,
Uta Ceglarek
6   Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University Hospital Leipzig, Leipzig, Germany
,
Joachim Thiery
6   Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University Hospital Leipzig, Leipzig, Germany
,
Renate Bergert
5   Department of Pediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
7   Krankenhaus St. Joseph-Stift Dresden - Department of Pediatrics, Dresden, Germany
,
Daniel Stadthaus
8   HELIOS Klinikum Pirna, Department of Gynecology and Obstetrics, Pirna, Sachsen, Germany
,
Katrin Groeger
9   Muldentalklinikum GmbH, Krankenhaus Wurzen, Department of Pediatrics, Wurzen, Germany
,
Georg Heubner
10   Städtisches Klinikum Dresden - Department of Pediatrics, Dresden, Germany
,
Ursula Schramm
11   Oberlausitz-Klinikum GmbH, Krankenhaus Bautzen - Department of Pediatrics, Bautzen, Germany
,
Ullrich Dziambor
12   Oberlausitz-Klinikum gGmbH, Krankenhaus Bischofswerda, Department of Gynecology and Obstetrics, Bischofswerda, Germany
,
Agnes Zirkel
13   Diakonissen Krankenhaus Dresden, Department of Gynecology and Obstetrics, Dresden, Germany
,
Wieland Kiess
14   Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany
,
Iris Mueller
15   Department of Medical Psychology, Hannover Medical School, Hannover, Germany
,
Karin Lange
15   Department of Medical Psychology, Hannover Medical School, Hannover, Germany
,
Reinhard Berner
5   Department of Pediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
,
Ezio Bonifacio
1   DFG-Center for Regenerative Therapies Dresden, Faculty of Medicine, TU Dresden - AG Bonifacio, Dresden, Germany
,
Anette-Gabriele Ziegler
2   Institute of Diabetes Research, Helmholtz Zentrum München, and Forschergruppe Diabetes, Klinikum rechts der Isar, Technische Universität München, Neuherberg, Germany
,
and the Freder1k Study Group › Author Affiliations
Further Information

Publication History

received 13 June 2017

accepted 04 October 2017

Publication Date:
09 November 2017 (online)

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Abstract

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.

Key words

genetic risk testing - type 1 diabetes - newborn screening - HLA - islet autoimmunity

☆ A list of Freder1k Study Group participants is provided at the end of the manuscript


 

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