Genetic Counseling for Diabetes Mellitus

Area of Science:

• Endocrinology
• Genetics
• Medical Diagnostics

Background:

• Most diabetes mellitus cases are polygenic, including autoimmune type 1 diabetes (T1DM) and non-autoimmune type 2 diabetes (T2DM).
• Genetic counseling for diabetes typically involves empirical risk assessment based on family history and maternal hyperglycemia effects.
• A small fraction (1-5%) of diabetes cases are monogenic, such as Maturity Onset Diabetes of the Young (MODY), which has available molecular testing and etiology-based treatments.

Purpose of the Study:

• To highlight the frequent misdiagnosis of monogenic diabetes as T1DM or T2DM.
• To emphasize the crucial role of genetic counselors and clinical geneticists in identifying monogenic diabetes.
• To advocate for improved diagnosis, treatment, and familial risk assessment for monogenic diabetes.

Main Methods:

• Review of recent studies on monogenic diabetes diagnosis.
• Analysis of the current practices in genetic counseling for diabetes.
• Proposed integration of targeted family history questioning by genetic professionals with diabetes care.

Main Results:

• Most monogenic diabetes cases are currently misdiagnosed as T1DM or T2DM.
• Genetic counselors and clinical geneticists are well-positioned to identify potential monogenic diabetes cases.
• Effective diagnosis requires collaboration between genetic specialists and diabetes professionals.

Conclusions:

• There is a need to increase the diagnostic rate of monogenic diabetes.
• Genetic counselors can improve patient outcomes by identifying monogenic diabetes through detailed family history.
• Accurate diagnosis facilitates appropriate, etiology-based treatment and familial risk assessment for monogenic diabetes.