GCK-MODY is characterized by stable, mild hyperglycemia without typical long-term diabetes complications. The prevalence of GCK-MODY is 0.1% in the general population. However patients are frequently misclassified as type 1, type 2, or gestational diabetes. Since all pregnant women undergo glycemic assessment, there is an opportunity to identify women with GCK-MODY within the Obstetrics (OB) clinic.

The purpose of this study is to use retrospective data from the electronic medical record (EMR) to identify a combination of anthropometric and glycemic data that can differentiate women with GCK-MODY from those with gestational diabetes in a multiethnic United States population. A screening cohort of 927 study patients was identified through the University of Chicago Clinical Research Data Warehouse (CRDW) using the parameters of age >=18, outpatient visit to the OB clinic from 2009 to present and ICD-9 or ICD-10 diagnosis code of pregnancy and diabetes.

A total of 1patients were identified who fulfilled criteria of BMI < 30 kg/m2 and fasting glucose 99-145 mg/dL or HbA1c 5.6-7.6%. Twelve patients were excluded due to confirmed type 1 diabetes (n= 11) and secondary CF-related diabetes (n= 1). The final cohort are predominantly African-American (66%), followed by Asian/Mideast Indian (13%) and white (11%). Diagnoses based on ICD9/10 codes included gestational diabetes (52%), type 2 diabetes (41%), unconfirmed type 1 diabetes (4%), and secondary diabetes (2%). The average BMI using lowest recorded BMI was 25.6 (range 16-29.96 kg/m2). Average hemoglobin A1c was 6.0% and fasting glucose was 100.6 mg/dL. These patients will be contacted for study enrollment and genetic testing to determine the pickup rate of GCK-MODY using the proposed screening cutoffs in this multiethnic population.

The initial data indicate that the EMR can be used to identify patients at higher risk for GCK-MODY to undergo genetic testing. Several challenges were encountered including duplicate ICD codes but these did not preclude successful cohort identification.


L.T. Dickens: None. L.R. Letourneau: Other Relationship; Self; Novo Nordisk Inc.. M. Sanyoura: None. L.H. Philipson: Research Support; Self; Novo Nordisk Inc.. Speaker's Bureau; Self; Merck & Co., Inc.. Research Support; Self; JAEB Center For Health Research, JDRF, Janssen Pharmaceuticals, Inc., Medtronic MiniMed, Inc. S.W. Greeley: Research Support; Self; Novo Nordisk Inc.. R.N. Naylor: None.

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