2394-P: Integration of Diabetes Genetics into Clinical Practice

Introduction and Objective: Despite increasing evidence that genetic testing can inform diabetes type, prognosis, and treatment, its clinical use remains limited. Since 2016, we established the Personalized Medicine in Diabetes Clinic (PMDC) to integrate diabetes genetic testing into practice. The clinic serves as a referral center for patients with atypical diabetes. Methods: PMDC-referred patients were evaluated by a clinician, received genetic counseling and testing, and had results reviewed. CLIA-certified testing was performed using the GeneDx MODY Panel (5 or 16 MODY genes) until 2021, GoPath Diagnostics DiabetesNOW 1.0 (17 MODY genes, T1D/T2D polygenic risk score [PRS]) until 2024, followed by DiabetesNOW 2.0 (18 monogenic diabetes genes, pan-ancestry T1D/T2D PRS). Results: PMDC patients (n=112) were 33% male, 69.6% Caucasian, mean BMI 24.7 ± 6.2 and age 38.9 ± 19.8; 13.3%, 42%, 21.4%, and 24.1% had T1D, T2D, prediabetes, and gestational diabetes, respectively. Genetic testing identified monogenic diabetes variants in 47 patients (26 GCK, 5 HNF1A, 3 HNF4A, 1 HNF1B, 2 INS, 2 INSR, 3 WFS1, and 7 other), 60% of which were pathogenic/likely pathogenic. Additionally, 11.1% had a relative T1D risk >2.0 by PRS and showed features more consistent with T1D than lower-risk patients. Results are shown in Table 3. Conclusion: Over ten years, we demonstrate the feasibility and clinical impact of integrating diabetes genetics into clinical care using a single-clinician model and a novel genetic panel. Disclosure L.K. Billings: Advisory Panel; Current; Novo Nordisk, Lilly, Sanofi, Amgen Inc., Bayer AG. E.S. Gross: None. S. Mwanda: None. M.R. Salah: None. A. Ashworth: None. E. Fung: None. A. Kondilis: None. M. Raviv: None. Z. Shi: Consultant; Current; GoPath. J. Xu: Advisory Panel; Current; GenomicMD, GoPath Labs.