How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young

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, particul...

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Bibliographic Details
Published in:Current diabetes reports 2019-09, Vol.19 (9), p.79-11, Article 79
Main Authors: Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Amélie
Format: Article
Language:English
Subjects:
Adolescent
Diabetes
Diabetes Mellitus, Type 2 - genetics
Genomics
Genomics - methods
High-Throughput Nucleotide Sequencing
Humans
Life Sciences
Medical diagnosis
Medicine
Medicine & Public Health
Mutation
Pediatric Type 2 and Monogenic Diabetes (O Pinhas-Hamiel
Precision Medicine - methods
Section Editor
Topical Collection on Pediatric Type 2 and Monogenic Diabetes
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Summary: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. Summary 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.
ISSN:1534-4827
1539-0829
DOI:10.1007/s11892-019-1202-x