T1D GRS: A Tool for Identifying Children and Adolescents with Monogenic Diabetes
Authors' conclusion
Combining T1D GRS with autoantibody testing improves the efficiency of genetic testing by reducing unnecessary investigations while maintaining high sensitivity. When combined with clinical evaluation, this approach enables earlier and more targeted identification of candidates for monogenic diabetes testing.
Study context
- Population
- Children and adolescents with newly diagnosed hyperglycaemia (808), patients with monogenic diabetes (165) and healthy individuals (24)
- Comparison
- T1D GRS2 plus negative autoantibodies vs autoantibody testing alone for prioritising monogenic diabetes genetic testing
- Outcome
- Effectiveness of T1D GRS to prioritise children for monogenic diabetes genetic testing
Methodological detailsretrospective evaluation, Genetic testing in all autoantibody-negative and clinically unclassified cases
- Retrospective evaluation
- Genetic testing in all autoantibody-negative and clinically unclassified cases
Performance
As reported in the abstract
Prioritisation for monogenic diabetes genetic testing
| Test or model | Sensitivity | Specificity |
|---|---|---|
| T1D GRS2 + negative autoantibodies | 72.2% | 98.8% |
| Autoantibody testing alone | 77.8% | 92.9% |
Sensitivity
T1D GRS2 + negative autoantibodies72.2%
Autoantibody testing alone77.8%
Specificity
T1D GRS2 + negative autoantibodies98.8%
Autoantibody testing alone92.9%
Further findings
| Outcome | Values |
|---|---|
| Discrimination of T1D by T1D GRS2 (ROC) | T1D GRS2 AUC 0.919 (95% CI: 0.898-0.941) · optimal cut-off 11.818 |
Monogenic cases missed by prioritisation
- HNF1B-MODY cases identified solely by low GRS2
- 2
- Most missed cases had low levels of a single autoantibody, likely false-positive autoantibody results; diagnosed on clinical phenotype
Original publication
T1D GRS: A Tool for Identifying Children and Adolescents with Monogenic Diabetes. Horm Res Paediatr. Published 30 March 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →