Providing information for patients and professionals on research and clinical care in genetic types of diabetes.

Type 1 Diabetes Genetic Risk Score

Introduction

The Type 1 Diabetes Genetic Risk Score is a novel tool that can help differentiate Monogenic diabetes from type 1 diabetes in patients treated with insulin from diagnosis (Patel et al 2016 Diabetes 65:2094-2099, Oram et al 2016 Diabetes Care 36:337-344)

The type 1 diabetes genetic risk score is a new addition to our testing pathway to identify individuals in whom genetic testing for monogenic diabetes is indicated when clinical features and autoimmune markers are equivocal. This test provides independent information to autoantibody and C-peptide testing and because it is a DNA based test the result does not change with time.

Indication of Type 1 Diabetes Genetic Risk Score:

Clinical suspicion of monogenic diabetes in patients who are currently insulin treated.

Methods:

Type 1 diabetes is a polygenic disease and common genetic variants have been identified that contribute to type 1 diabetes susceptibility. We genotype these variants and combine the risk of the individual variants that are present in a person to create a composite score that reflects an individual’s genetic susceptibility to type 1 diabetes (Patel et al 2016 Diabetes 65:2094-2099).

The likelihood of a patient having type 1 diabetes is based on the clinical information provided and the type 1 diabetes genetic risk score.

Sample types:

EDTA blood (minimum 10ml adults; 5ml children; 1ml neonates) for Type 1 diabetes genetic risk score, autoantibody testing (GAD65, IA2 and ZnT8) and monogenic diabetes genetic testing.

DNA (5μg) for Type 1 diabetes genetic risk score and monogenic diabetes genetic testing only.