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Updated: Aug 27, 2025
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Successful integration of newborn genetic testing into UK routine screening using prospective consent to determine
Owen Martyn Bendor-Samuel1, Tabitha Wishlade2, Louise Willis1
1Oxford Vaccine Group, University of Oxford, Oxford, Oxfordshire, UK.
Insights
The INvestigating Genetic Risk for type 1 Diabetes (INGR1D) study successfully screened newborns for type 1 diabetes (T1D) genetic risk using routine bloodspot samples. This approach identified at-risk infants for primary prevention trials, demonstrating a novel method for genetic research.
Area of Science:
- Genetics
- Immunology
- Public Health
Background:
- Type 1 diabetes (T1D) is an autoimmune disease with a significant genetic component.
- Early identification of genetic predisposition can facilitate preventative strategies.
- The INvestigating Genetic Risk for type 1 Diabetes (INGR1D) study aimed to integrate genetic screening into existing newborn healthcare infrastructure.
Purpose of the Study:
- To establish a genetic screening program for type 1 diabetes (T1D) in newborns.
- To identify infants at increased genetic risk for T1D.
- To recruit high-risk infants into the Primary Oral Insulin Trial (POInT) for primary prevention.
Main Methods:
- Recruitment of pregnant women in antenatal clinics from 18 weeks' gestation.
- Utilized the NHS Newborn Bloodspot Screening Programme (NBSP) infrastructure for sample collection.
- Performed genetic screening on day 5 bloodspot cards for T1D risk, with prospective consent.
Main Results:
- 66% of approached women participated in INGR1D between April 2018 and November 2020.
- 15,660 babies were enrolled, with 14,731 samples processed.
- 157 (1%) samples showed positive results for increased T1D genetic risk; 49 (31%) enrolled in POInT.
Conclusions:
- Prospective consent for genetic testing on routine NBSP samples offers a novel mechanism for UK clinical genetic research.
- This model provides a framework for future population-based newborn genetic studies.
- The INGR1D study successfully linked genetic risk identification to a primary prevention trial.
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.
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