Evidence map›Paper›PMID 36171064›Full record

ArticleArchives of disease in childhood2023

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

Owen Martyn Bendor-Samuel, Tabitha Wishlade, Louise Willis, Parvinder Aley, Edward Choi, Rachel Craik, Yama Mujadidi, Ginny Mounce, Fenella Roseman, Arancha De La Horra Gozalo and 12 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Archives of disease in childhood, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 2 pooled it
1.1field-weighted citation impact, top 20% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 2 syntheses or guidelines pooled it, 3 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors at 7 institutions in 4 countries.

Owen Martyn Bendor-SamuelOxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK.ORCID 0000-0002-3195-6051
Tabitha WishladeNuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, Oxfordshire, UK.
Louise WillisOxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK.
Parvinder AleyOxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK.
Edward ChoiOxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK.
Rachel CraikOxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK.
Yama MujadidiOxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK.
Ginny MounceNuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, Oxfordshire, UK.ORCID 0000-0002-3219-8774
Fenella RosemanNuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, Oxfordshire, UK.
Arancha De La Horra GozaloNuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, Oxfordshire, UK.
James BlandNuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, Oxfordshire, UK.
Nazia TajOxford Screening Laboratory, Department of Clinical Biochemistry, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK.
Ian SmithOxford Screening Laboratory, Department of Clinical Biochemistry, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK.
Anette-Gabriele ZieglerInstitute of Diabetes Research, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Ezio BonifacioCenter for Regenerative Therapies Dresden, Faculty of Medicine, Technische Universität Dresden, Dresden, Germany.
Christiane WinklerInstitute of Diabetes Research, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Florian HauptInstitute of Diabetes Research, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
John A ToddWellcome Centre for Human Genetics, University of Oxford Nuffield Department of Medicine, Oxford, Oxfordshire, UK.
Laurent ServaisDivision of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, Université de Liège, Liege, Belgium.
Matthew D SnapeOxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK.
Manu VatishNuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, Oxfordshire, UK manu.vatish@wrh.ox.ac.uk.
GPPAD Study Group
University of Oxford · GBCenter for Environmental Health · USCentre for Human Genetics · GBScreen · USTechnische Universität Dresden · DETUM Klinikum · DEUniversity of Liège · BE

Funding

Wellcome TrustWellcome Trust 107212/Z/15/ZWellcome Trust 203141/Z/16/Z
6 · The paper itself

Abstract

objectiveINGR1D (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).

methodsThe 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.

resultsBetween 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).

conclusionThe 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.

Indexed as

COVID-19Diabetes Mellitus, Type 1Communicable Disease ControlFemaleGenetic TestingHumansInfant, NewbornInformed ConsentPregnancyProspective StudiesUnited Kingdomendocrinologygeneticsneonatologypaediatrics

Identifiers

PMID36171064
PMCPMC9763160
OpenAlexW4297476645

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.