Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Pediatric Diabetes Care
Authors' conclusion
T1D polygenic scores already have clinical utility to aid in the accurate diagnosis of pediatric diabetes. Efforts are now needed to advance their use in clinical practice.
Study context
- Population
- Pediatric patients with genetic data in the Boston Children's Hospital PrecisionLink Biobank
- Participants
- 1,846 patients
- Comparison
- T1D polygenic scores in clinical T1D vs controls
- T1Dn = 96
- Outcome
- T1D polygenic score
Methodological detailsbiobank-based, single-centre
- Biobank-based
- Single-centre
Performance
As reported in the abstract
- Patients with clinical T1D had higher T1D polygenic scores vs controls
- T1D vs Controls: Wilcoxon rank-sum p < 0.0001
Further findings
Confirmed T1D among individuals with diabetes and T1D polygenic score above externally validated cutoff
- Confirmed T1D / individuals with diabetes above cutoff
- 69 of 74
Clinical utility cases
- Elevated score suggested T1D in a pancreatic autoantibody (PAA)-negative individual with negative maturity-onset diabetes of the young (MODY) genetic testing and T1D phenotype
- Low score accurately indicated atypical diabetes in an individual with HNF1B-MODY
- Low score in a PAA-positive individual whose provider noted possible non-classic T1D
Original publication
Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Pediatric Diabetes Care. Horm Res Paediatr. Published 20 May 2025. doi:10.
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