Successful integration of newborn genetic testing into UK routine screening using prospective consent to determine eligibility for clinical trials

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Owen Martyn Bendor-Samuel - , University of Oxford (Author)
  • Tabitha Wishlade - , University of Oxford (Author)
  • Louise Willis - , University of Oxford (Author)
  • Parvinder Aley - , University of Oxford (Author)
  • Edward Choi - , University of Oxford (Author)
  • Rachel Craik - , University of Oxford (Author)
  • Yama Mujadidi - , University of Oxford (Author)
  • Ginny Mounce - , University of Oxford (Author)
  • Fenella Roseman - , University of Oxford (Author)
  • Arancha De La Horra Gozalo - , University of Oxford (Author)
  • James Bland - , University of Oxford (Author)
  • Nazia Taj - , Oxford University Hospitals NHS Foundation Trust (Author)
  • Ian Smith - , Oxford University Hospitals NHS Foundation Trust (Author)
  • Anette Gabriele Ziegler - , Technical University of Munich, Helmholtz Zentrum München - German Research Center for Environmental Health (Author)
  • Ezio Bonifacio - , Center for Regenerative Therapies Dresden, Chair of Preclinical stem cell therapy and diabetes (Author)
  • Christiane Winkler - , Helmholtz Zentrum München - German Research Center for Environmental Health (Author)
  • Florian Haupt - , Helmholtz Zentrum München - German Research Center for Environmental Health (Author)
  • John A. Todd - , University of Oxford, NIHR Oxford Biomedical Research Centre (BRC) (Author)
  • Laurent Servais - , University of Liege, University of Oxford (Author)
  • Matthew D. Snape - , University of Oxford, NIHR Oxford Biomedical Research Centre (BRC) (Author)
  • Manu Vatish - , University of Oxford (Author)

Abstract

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.

Details

Original languageEnglish
Article number324270
Pages (from-to)26-30
Number of pages5
JournalArchives of disease in childhood : a peer review journal for health professionals and researchers covering conception to adolescence
Volume108
Issue number1
Publication statusPublished - 28 Sept 2022
Peer-reviewedYes

External IDs

PubMed 36171064
WOS 000863407500001
Mendeley 7edfa8e7-5e57-3ca9-9f28-722c68b78915
ORCID /0000-0002-8704-4713/work/141544361

Keywords

Sustainable Development Goals

Keywords

  • COVID-19, Communicable Disease Control, Diabetes Mellitus, Type 1/diagnosis, Female, Genetic Testing, Humans, Infant, Newborn, Informed Consent, Pregnancy, Prospective Studies, United Kingdom, Neonatology, Genetics, Endocrinology, Paediatrics

Library keywords