Enhancing MODY Diagnosis: The Clinical Value of Type 1 Diabetes Genetic Risk Scoring in Routine Genetic Testing

Highlight

• The type 1 diabetes genetic risk score (T1DGRS) measured alongside MODY gene panel testing identifies probable T1D cases within individuals initially referred for suspected MODY.
• Approximately 20% of insulin-treated individuals referred for MODY testing carry a genetic risk profile consistent with T1D rather than monogenic diabetes.
• Age-specific T1DGRS thresholds, especially in children under 10 years, enable effective pregenetic testing triage, potentially reducing over 50% of unnecessary genetic tests.
• The clinical utility of T1DGRS diminishes in adults but remains valuable as part of genomic diagnostics in routine clinical practice.

Study Background