endocrinology; genetics; neonatology; paediatrics; Pediatrics, Perinatology and Child Health
Abstract :
[en] OBJECTIVE: INGR1D (INvestigating Genetic Risk for type 1 Diabetes) was a type 1 diabetes (T1D) genetic screening study established to identify participants for a primary prevention trial (POInT, Primary Oral Insulin Trial).
METHODS: The majority of participants were recruited by research midwives in antenatal clinics from 18 weeks' gestation. Using the NHS Newborn Bloodspot Screening Programme (NBSP) infrastructure, participants enrolled in INGR1D had an extra sample taken from their day 5 bloodspot card sent for T1D genetic screening. Those at an increased risk of T1D were informed of the result, given education about T1D and the opportunity to take part in POInT.
RESULTS: Between April 2018 and November 2020, 66% of women approached about INGR1D chose to participate. 15 660 babies were enrolled into INGR1D and 14 731 blood samples were processed. Of the processed samples, 157 (1%) had confirmed positive results, indicating an increased risk of T1D, of whom a third (n=49) enrolled into POInT (20 families were unable to participate in POInT due to COVID-19 lockdown restrictions).
CONCLUSION: The use of prospective consent to perform personalised genetic testing on samples obtained through the routine NBSP represents a novel mechanism for clinical genetic research in the UK and provides a model for further population-based genetic studies in the newborn.
Disciplines :
Pediatrics Neurology Laboratory medicine & medical technology
Author, co-author :
Bendor-Samuel, Owen Martyn ; Oxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK
Wishlade, Tabitha; Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, Oxfordshire, UK
Willis, Louise; Oxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK
Aley, Parvinder; Oxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK
Choi, Edward; Oxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK
Craik, Rachel; Oxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK
Mujadidi, Yama; Oxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK
Mounce, Ginny ; Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, Oxfordshire, UK
Roseman, Fenella; Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, Oxfordshire, UK
De La Horra Gozalo, Arancha; Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, Oxfordshire, UK
Bland, James; Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, Oxfordshire, UK
Taj, Nazia; Oxford Screening Laboratory, Department of Clinical Biochemistry, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK
Smith, Ian; Oxford Screening Laboratory, Department of Clinical Biochemistry, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK
Ziegler, Anette-Gabriele; Institute of Diabetes Research, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany ; Technical University Munich, School of Medicine, Forschergruppe Diabetes at Klinikum rechts der Isar, Munich, Germany
Bonifacio, Ezio; Center for Regenerative Therapies Dresden, Faculty of Medicine, Technische Universität Dresden, Dresden, Germany
Winkler, Christiane; Institute of Diabetes Research, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
Haupt, Florian; Institute of Diabetes Research, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
Todd, John A; Wellcome Centre for Human Genetics, University of Oxford Nuffield Department of Medicine, Oxford, Oxfordshire, UK ; NIHR Oxford Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
Servais, Laurent ; Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie ; MDUK Neuromuscular Centre, University of Oxford Department of Paediatrics, Oxford, Oxfordshire, UK
Snape, Matthew D; Oxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK ; NIHR Oxford Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
Vatish, Manu; Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, Oxfordshire, UK manu.vatish@wrh.ox.ac.uk ; Wellcome Centre for Human Genetics, University of Oxford Nuffield Department of Medicine, Oxford, Oxfordshire, UK
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