title: Towards a systematic nationwide screening strategy for MODY.
abstract: MODY is an early-onset monogenic form of diabetes. Correctly identifying MODY is of considerable importance as diagnosing the specific genetic subtype can inform the optimal treatment, with many patients being able to discontinue unnecessary insulin treatment. Diagnostic molecular genetic testing to confirm MODY is expensive, so screening strategies are required to identify the most appropriate patients for testing. In this issue of Diabetologia, Johansson and colleagues (DOI 10.1007/s00125-016-4167-1 ) describe a nationwide systematic screening approach to identify individuals with MODY in the paediatric age range. They focused testing on patients negative for both GAD and islet antigen 2 (IA-2) islet autoantibodies, thereby ruling out those with markers of type 1 diabetes, the most common form of diabetes in this age group. This commentary discusses the advantages and limitations of the approach, and the caution required when interpreting variants of uncertain pathogenicity identified from testing whole populations rather than targeting only patients with a strong MODY phenotype.
authors.affiliation: University of Exeter Medical School, University of Exeter, RILD Building - Level 3, Barrack Road, Exeter, EX2 5DW, UK. B.Shields@exeter.ac.uk.
authors.forename: Beverley
authors.initials: B
authors.lastname: Shields
authors.affiliation: Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
authors.forename: Kevin
authors.initials: K
authors.lastname: Colclough
mesh_terms: D001323:Autoantibodies / Q000276:immunology; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis / Q000276:immunology; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis* / Q000276:immunology; D006801:Humans; D008403:Mass Screening / Q000379:methods*
chemical_list: D001323:Autoantibodies
keywords: Islet autoantibodies; MODY; Maturity onset diabetes of the young; Monogenic diabetes; Variants