Researchers have called for better screening to identify monogenic diabetes, following the development of a test which helped identify more cases of the condition.
The study, which assessed 1,407 people in the United Kingdom with diabetes diagnosed at 30 years of age or younger, used C-peptide and islet autoantibodies—highly sensitive and specific biomarkers for discriminating type 1 from non-type 1 diabetes—in a biomarker screening pathway for monogenic diabetes.
The use of the pathway resulted in the identification of 17 new cases of monogenic diabetes in addition to the 34 previously identified cases, indicating that the prevalence in patients diagnosed under 30 is 3.6 percent. The trial concluded that the biomarker screening pathway for monogenic diabetes is an effective, feasible and easily implemented approach to systematically screen and appropriately identify young-onset patients for further genetic testing.
Correct classification of diabetes is important to ensure that patients receive the most appropriate treatment and ongoing diabetes management. Monogenic diabetes is a rare form of youth-onset diabetes that results from mutations in a single gene and has specific treatment requirements that differ from type 1 diabetes and type 2 diabetes. Genetic testing can diagnose monogenic diabetes, yet the testing is costly and screening all patients with diabetes is not feasible. When genetic testing is not performed, people with monogenic diabetes are often misdiagnosed as having type 1 diabetes, which results in unnecessary treatment with insulin.
The researchers concluded that the biomarker screening pathway for monogenic diabetes is an effective, cheap, and easily implemented approach to systematically screening all young-onset patients. The findings were published in the journal Diabetes Care.