Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program

Area of Science:

• Medical Genetics
• Endocrinology
• Metabolic Diseases

Background:

• Rare monogenic conditions can be misdiagnosed as common diabetes due to overlapping symptoms.
• Misdiagnosis leads to suboptimal or incorrect treatment, impacting patient outcomes.
• Genetic diagnosis offers precise treatment strategies and clinical trial eligibility.

Purpose of the Study:

• To highlight clinical characteristics of patients evaluated in a multidisciplinary Atypical Diabetes Program.
• To report diagnostic outcomes from genetics evaluations in this cohort.
• To emphasize the role of genetics in diagnosing atypical diabetes presentations.

Main Methods:

• Retrospective cohort review of 87 patients referred to genetics.
• Patients were referred by endocrinologists within an Atypical Diabetes Program.
• Data collected from September 2019 to October 2022 at a tertiary academic medical center.

Main Results:

• A pathogenic variant confirming a diagnosis was found in 6 patients (8.8%), including lipodystrophy, monogenic diabetes, and monogenic obesity.
• Fifteen patients (22.0%) had a variant of uncertain significance, with 5 correlating to clinical features.
• Confirmed diagnoses enabled precise treatment adjustments and clinical trial enrollment.

Conclusions:

• Multidisciplinary collaboration between genetics and endocrinology improves the identification of rare genetic conditions causing diabetes.
• Recognizing specific clinical features is crucial for timely genetics referrals.
• Accurate genetic diagnosis enhances patient management and therapeutic options for atypical diabetes.