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

Authors :
Rinki Murphy
Kevin Colclough
Toni I. Pollin
Jennifer M. Ikle
Pernille Svalastoga
Kristin A. Maloney
Cécile Saint-Martin
Janne Molnes
ADA/EASD PMDI
Shivani Misra
Ingvild Aukrust
Elisa de Franco
Sarah E. Flanagan
Pål R. Njølstad
Liana K. Billings
Katharine R. Owen
Anna L. Gloyn
Source :
Communications Medicine, Vol 3, Iss 1, Pp 1-24 (2023)
Publication Year :
2023
Publisher :
Nature Portfolio, 2023.

Abstract

Abstract 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.

Subjects

Subjects :
Medicine

Details

Language :
English
ISSN :
2730664X
Volume :
3
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Communications Medicine
Publication Type :
Academic Journal
Accession number :
edsdoj.4cfa59670e5f4584a6699dc739a2fd7b
Document Type :
article
Full Text :
https://doi.org/10.1038/s43856-023-00369-8