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Review
. 2018 Oct 30;18(12):141.
doi: 10.1007/s11892-018-1111-4.

Genetics of Monogenic Diabetes: Present Clinical Challenges

Shivani Misra  1 , Katharine R Owen  2
Affiliations
Review

Genetics of Monogenic Diabetes: Present Clinical Challenges

Shivani Misra et al. Curr Diab Rep. .

Abstract

Purpose of review: Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. In this review, we discuss current clinical challenges that remain, including improving case-finding strategies, particularly those that have transethnic applicability, and understanding the interpretation of genetic variants as pathogenic, with clinically meaningful impacts.

Recent findings: Biomarker approaches to the stratification for genetic testing now appear to be most effective in identifying cases of monogenic diabetes, and use of genetic risk scores may also prove useful. However, applicability in all ethnic groups is lacking. Challenges remain in the classification of genes as diabetes-causing and the interpretation of genetic variants at the clinical interface. Since the discovery that genetic defects can cause neonatal or young-onset diabetes, multiple causal genes have been identified and there have been many advances in strategies to detect genetic forms of diabetes and their treatments. Approaches learnt from monogenic diabetes are now being translated to polygenic diabetes.

Keywords: Genetic testing; HNF1A; MODY; Monogenic diabetes; Neonatal diabetes.

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Conflict of interest statement

Conflicts of Interest

Shivani Misra declares she has no conflict of interest.

Katharine R. Owen reports personal fees from Novo Nordisk.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

References

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