ArticleGenome medicine2024
Implementation of type 1 diabetes genetic risk screening in children in diverse communities: the Virginia PrIMeD project.
Article in Genome medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Early Detection of Pediatric Type 1 Diabetes: The Expanding Role of Screening.Children (Basel, Switzerland) · 2026Review
- Psychological Impact of Screening for Risk of Type 1 Diabetes: an Update.Current diabetes reports · 2025Review
- Diabetes mellitus polygenic risk scores: heterogeneity and clinical translation.Nature reviews. Endocrinology · 2025Review
- Type 1 diabetes risk factors, risk prediction and presymptomatic detection: Evidence and guidance for screening.Diabetes, obesity & metabolism · 2025Review
- Health economic considerations of screening for early type 1 diabetes.Diabetes, obesity & metabolism · 2025Review
- Enabling reproducible type 1 diabetes polygenic risk scoring for clinical and translational applications.medRxiv : the preprint server for health sciences · 2025Article
- The efficacy of islet autoantibody screening with or without genetic pre-screening strategies for the identification of presymptomatic type 1 diabetes.Diabetologia · 2025Article
- Enhancing Type 1 Diabetes Immunological Risk Prediction with Continuous Glucose Monitoring and Genetic Profiling.Diabetes technology & therapeutics · 2025Article
- Type 1 Diabetes Genetic Risk Scores: History, Application and Future Directions.Current diabetes reports · 2025Review
- Autoimmune Type 1 Diabetes: An Early Approach Appraisal for Spain by the AGORA Diabetes Collaborative Group.Journal of clinical medicine · 2025Review
- Fifty years of HLA-associated type 1 diabetes risk: history, current knowledge, and future directions.Frontiers in immunology · 2024Review
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Authors and funding
17 authors.
Funding
Abstract
backgroundPopulation screening for risk of type 1 diabetes (T1D) has been proposed to identify those with islet autoimmunity (presence of islet autoantibodies). As islet autoantibodies can be transient, screening with a genetic risk score has been proposed as an entry into autoantibody testing.
methodsChildren were recruited from eight general pediatric and specialty clinics across Virginia with diverse community settings. Recruiters in each clinic obtained informed consent/assent, a medical history, and a saliva sample for DNA extraction in children with and without a history of T1D. A custom genotyping panel was used to define T1D genetic risk based upon associated SNPs in European- and African-genetic ancestry. Subjects at "high genetic risk" were offered a separate blood collection for screening four islet autoantibodies. A follow-up contact (email, mail, and telephone) in one half of the participants determined interest and occurrence of subsequent T1D.
resultsA total of 3818 children aged 2-16 years were recruited, with 14.2% (n = 542) having a "high genetic risk." Of children with "high genetic risk" and without pre-existing T1D (n = 494), 7.0% (34/494) consented for autoantibody screening; 82.4% (28/34) who consented also completed the blood collection, and 7.1% (2/28) of them tested positive for multiple autoantibodies. Among children with pre-existing T1D (n = 91), 52% (n = 48) had a "high genetic risk." In the sample of children with existing T1D, there was no relationship between genetic risk and age at T1D onset. A major factor in obtaining islet autoantibody testing was concern over SARS-CoV-2 exposure.
conclusionsMinimally invasive saliva sampling implemented using a genetic risk score can identify children at genetic risk of T1D. Consent for autoantibody screening, however, was limited largely due to the SARS-CoV-2 pandemic and need for blood collection.
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