Martine Vaxillaire1,2, Philippe Froguel3,4, Amélie Bonnefond3,4. 1. Univ. Lille, CNRS, CHU Lille, Institut Pasteur de Lille, UMR 8199 - European Genomic Institute for Diabetes (EGID), University Lille, F-59000, Lille, France. martine.vaxillaire@cnrs.fr. 2. Faculty of Medicine, CNRS UMR 8199, 1 Place de Verdun, F-59045, Lille, France. martine.vaxillaire@cnrs.fr. 3. Univ. Lille, CNRS, CHU Lille, Institut Pasteur de Lille, UMR 8199 - European Genomic Institute for Diabetes (EGID), University Lille, F-59000, Lille, France. 4. Department of Medicine, Section of Genomics of Common Disease, Imperial College London, London, UK.
Abstract
PURPOSE OF REVIEW: Non-autoimmune monogenic diabetes (MD) in young people shows a broad spectrum of clinical presentations, which is largely explained by multiple genetic etiologies. This review discusses how the application of state-of-the-art genomics research to precision diagnosis of MD, particularly the various subtypes of maturity-onset diabetes of the young (MODY), has increasingly informed diabetes precision medicine and patient care throughout life. RECENT FINDINGS: Due to extended genetic and clinical heterogeneity of MODY, diagnosis approaches based on next-generation sequencing have been worthwhile to better ascribe a specific subtype to each patient with young-onset diabetes. This guides the best appropriate treatment and clinical follow-up. Early etiological diagnosis of MD and individualized treatment are essential for achieving metabolic targets and avoiding long-term diabetes complications, as well as for drastically decreasing the financial and societal burden of diabetes-related healthcare. Genomic medicine-based practices help to optimize long-term clinical follow-up and patient care management.
PURPOSE OF REVIEW: Non-autoimmune monogenic diabetes (MD) in young people shows a broad spectrum of clinical presentations, which is largely explained by multiple genetic etiologies. This review discusses how the application of state-of-the-art genomics research to precision diagnosis of MD, particularly the various subtypes of maturity-onset diabetes of the young (MODY), has increasingly informed diabetes precision medicine and patient care throughout life. RECENT FINDINGS: Due to extended genetic and clinical heterogeneity of MODY, diagnosis approaches based on next-generation sequencing have been worthwhile to better ascribe a specific subtype to each patient with young-onset diabetes. This guides the best appropriate treatment and clinical follow-up. Early etiological diagnosis of MD and individualized treatment are essential for achieving metabolic targets and avoiding long-term diabetes complications, as well as for drastically decreasing the financial and societal burden of diabetes-related healthcare. Genomic medicine-based practices help to optimize long-term clinical follow-up and patient care management.
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