Monogenic Diabetes: Laboratory Insights to Help You Make a Precise Diagnosis
While most cases of diabetes diagnosed globally have multifactorial etiologies, approximately 1% to 6% of cases diagnosed in the pediatric and young adult population are caused by variants in a single gene. The term monogenic diabetes encompasses neonatal diabetes, mature onset diabetes of the young (MODY), and syndromic presentations involving diabetes. Identifying a molecular etiology for patients with suspected monogenic diabetes can help guide management and treatment, allow for early screening of associated syndromic features and related supportive therapy, and inform familial recurrence.
During this educational webinar, Quest Diagnostics Senior Staff Genomic Variant Scientist Glenn Maston, PhD, and Blueprint Genetics Clinical Genomics Liaison Alicia Scocchia, MS, CGC, will present an overview of the current landscape of genetic diagnostics for patients with a suspicion of monogenic diabetes. They will explore case examples from the medical literature and laboratory experience. Learn how results of genetic testing can help elucidate misdiagnoses, identify syndromic presentations at the sub-clinical stage, and optimize treatment strategies.
- Identify the types and clinical features of monogenic diabetes
- Describe the benefits and limitations of various genetic testing methodologies for diagnosing patients with suspected monogenic diabetes
- Evaluate how identifying a molecular diagnosis can optimize treatment and management for patients and families with monogenic diabetes
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Glenn Maston, PhD, is Senior Staff Genomic Variant Scientist at Quest Diagnostics. He received a Bachelor of Science degree from Rensselaer Polytechnic Institute and a Doctor of Philosophy in Anthropology from Harvard University. Dr. Maston did postdoctoral training at University of Massachusetts Medical School prior to joining Quest Diagnostics in 2012.
Alicia Scocchia, MS, CGC, LGC, attended graduate school at Sarah Lawrence College (MS in Human Genetics). She previously counseled patients clinically with a focus in oncology and population genomics as well as performed interpretation, reporting, and client support for a clinical whole genome sequencing test intended for patients with rare disease. Currently, she is Clinical Liaison at Blueprint Genetics based in San Diego, CA.