The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.

Autor: Murphy R; Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand. R.murphy@auckland.ac.nz.; Auckland Diabetes Centre, Te Whatu Ora Health New Zealand, Te Tokai Tumai, Auckland, New Zealand. R.murphy@auckland.ac.nz., Colclough K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Pollin TI; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA., Ikle JM; Department of Pediatrics, Division of Endocrinology & Diabetes, Stanford School of Medicine, Stanford, CA, USA.; Stanford Diabetes Research Center, Stanford School of Medicine, Stanford, CA, USA., Svalastoga P; Children and Youth Clinic, Haukeland University Hospital, Bergen, Norway.; Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway., Maloney KA; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA., Saint-Martin C; Department of Medical Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Molnes J; Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Misra S; Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.; Department of Diabetes and Endocrinology, Imperial College Healthcare NHS Trust, London, UK., Aukrust I; Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., de Franco E; Department of Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Flanagan SE; Department of Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Njølstad PR; Children and Youth Clinic, Haukeland University Hospital, Bergen, Norway.; Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway., Billings LK; Division of Endocrinology, NorthShore University HealthSystem, Skokie, IL, USA.; Department of Medicine, Pritzker School of Medicine, University of Chicago, Chicago, IL, USA., Owen KR; Oxford Center for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford, UK., Gloyn AL; Department of Pediatrics, Division of Endocrinology & Diabetes, Stanford School of Medicine, Stanford, CA, USA. agloyn@stanford.edu.; Stanford Diabetes Research Center, Stanford School of Medicine, Stanford, CA, USA. agloyn@stanford.edu.; Department of Genetics, Stanford School of Medicine, Stanford, CA, USA. agloyn@stanford.edu.
Jazyk: angličtina
Zdroj: Communications medicine [Commun Med (Lond)] 2023 Oct 05; Vol. 3 (1), pp. 136. Date of Electronic Publication: 2023 Oct 05.
DOI: 10.1038/s43856-023-00369-8
Abstrakt: Background: Monogenic diabetes presents opportunities for precision medicine but is underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria and (2) methods for genetic testing for monogenic diabetes, summarized resources for (3) considering a gene or (4) variant as causal for monogenic diabetes, provided expert recommendations for (5) reporting of results; and reviewed (6) next steps after monogenic diabetes diagnosis and (7) challenges in precision medicine field.
Methods: Pubmed and Embase databases were searched (1990-2022) using inclusion/exclusion criteria for studies that sequenced one or more monogenic diabetes genes in at least 100 probands (Question 1), evaluated a non-obsolete genetic testing method to diagnose monogenic diabetes (Question 2). The risk of bias was assessed using the revised QUADAS-2 tool. Existing guidelines were summarized for questions 3-5, and review of studies for questions 6-7, supplemented by expert recommendations. Results were summarized in tables and informed recommendations for clinical practice.
Results: There are 100, 32, 36, and 14 studies included for questions 1, 2, 6, and 7 respectively. On this basis, four recommendations for who to test and five on how to test for monogenic diabetes are provided. Existing guidelines for variant curation and gene-disease validity curation are summarized. Reporting by gene names is recommended as an alternative to the term MODY. Key steps after making a genetic diagnosis and major gaps in our current knowledge are highlighted.
Conclusions: We provide a synthesis of current evidence and expert opinion on how to use precision diagnostics to identify individuals with monogenic diabetes.
(© 2023. Springer Nature Limited.)
Databáze: MEDLINE
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