Genetic Counseling for Diabetes Mellitus

Overview

Journal Curr Genet Med Rep

Specialty Genetics

Date 2014 Jul 22

PMID 25045596

Citations 9

Authors

Stephanie A Stein

Kristin L Maloney

Toni I Pollin

Affiliations

Soon will be listed here.

Abstract

Most diabetes is polygenic in etiology, with (type 1 diabetes, T1DM) or without (type 2 diabetes, T2DM) an autoimmune basis. Genetic counseling for diabetes generally focuses on providing empiric risk information based on family history and/or the effects of maternal hyperglycemia on pregnancy outcome. An estimated one to five percent of diabetes is monogenic in nature, e.g., maturity onset diabetes of the young (MODY), with molecular testing and etiology-based treatment available. However, recent studies show that most monogenic diabetes is misdiagnosed as T1DM or T2DM. While efforts are underway to increase the rate of diagnosis in the diabetes clinic, genetic counselors and clinical geneticists are in a prime position to identify monogenic cases through targeted questions during a family history combined with working in conjunction with diabetes professionals to diagnose and assure proper treatment and familial risk assessment for individuals with monogenic diabetes.

Citing Articles

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

Murphy R, Colclough K, Pollin T, Ikle J, Svalastoga P, Maloney K Commun Med (Lond). 2023; 3(1):136.

PMID: 37794142 PMC: 10550998. DOI: 10.1038/s43856-023-00369-8.

The Glycemic Curve during the Oral Glucose Tolerance Test: Is It Only Indicative of Glycoregulation?.

Vejrazkova D, Vankova M, Lukasova P, Hill M, Vcelak J, Tura A Biomedicines. 2023; 11(5).

PMID: 37238949 PMC: 10216069. DOI: 10.3390/biomedicines11051278.

Protein Glycosylation in Diabetes.

Stambuk T, Gornik O Adv Exp Med Biol. 2021; 1325:285-305.

PMID: 34495541 DOI: 10.1007/978-3-030-70115-4_14.

Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators.

Guan Y, Maloney K, Pollin T J Genet Couns. 2020; 29(6):1106-1113.

PMID: 32162750 PMC: 7486254. DOI: 10.1002/jgc4.1247.

Association of NF-E2 Related Factor 2 (Nrf2) and inflammatory cytokines in recent onset Type 2 Diabetes Mellitus.

Sireesh D, Dhamodharan U, Ezhilarasi K, Vijay V, Ramkumar K Sci Rep. 2018; 8(1):5126.

PMID: 29572460 PMC: 5865120. DOI: 10.1038/s41598-018-22913-6.

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