Soon, many more individuals with monogenic diabetes will be properly recognized, diagnosed, and treated thanks to genetic research being conducted to improve personalized medicine for diabetes patients.
That research, along with other important genetic studies, will be discussed during the two-hour symposium Returning Genetic Results to the Patient with Diabetes, which will begin at 4:00 p.m. CT Saturday, June 13.
Genetic testing helps identify the etiology and prognosis of diabetes patients, informing the type of treatment they should receive, according to Toni I. Pollin, MS, PhD, CGC, Associate Professor of Medicine and Epidemiology and Public Health at the University of Maryland School of Medicine, one of the symposium’s three presenters. Many patients with one of the monogenic diabetes subtypes, like certain types of maturity onset diabetes of the young (MODY)—which is often misdiagnosed—benefit from treatments that may not be effective in patients with type 1 and type 2 diabetes. For example, some individuals with certain forms of MODY can be successfully, and often more effectively, treated with sulfonylurea pills rather than insulin injections.
“When we are able to diagnose these different forms of diabetes, it helps not only tailor treatment for the patient, but it helps the family in terms of us being more precise about how likely their family members are to get diabetes, and when, and what treatments they might respond to,” Dr. Pollin said.
Dr. Pollin will discuss the Personalized Diabetes Medicine Program, which was funded by the National Human Genome Research Institute of the National Institutes of Health (NIH) as one of six studies in the IGNITE (Implementing Genomics in Practice) Network. The Personalized Diabetes Medicine Program is designed to implement, disseminate, and evaluate outcomes of a sustainable approach to detect, genomically diagnose, and promote individualized therapy for people with monogenic diabetes.
Dr. Pollin will also discuss her work with the Clinical Genome Resource Monogenic Diabetes Variant Curation Expert Panel, funded by the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development. The panel is working to share case-level data and expertise to develop gene-specific variant classification rules that enable consistent, evidence-based evaluation of which variants cause disease, enabling an accurate molecular diagnosis. Those variants are placed on ClinVar, the national database that archives relationships among human variations and phenotypes, with supporting evidence and an indication that the variants have been curated by an official ClinGen Expert Panel rather than simply from the literature or individual laboratories, increasing confidence in the assertions made.
“We’re trying to make this session appealing to clinicians so they can get an understanding of what’s going on with genetics and how the genetic research can help their diabetes patients, and who is behind this research,” Dr. Pollin said. “It’s a very detailed backend because we want to create a frontend that’s accessible. We’re trying to help get all this fascinating research to the patients.”