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NIH Awards U of Maryland $3.7M for Personalized Medicine Program in Monogenic Diabetes

NEW YORK (GenomeWeb) – The University of Maryland School of Medicine announced it has been awarded a four-year, $3.7 million grant from the National Institutes of Health to develop a personalized medicine program for the diagnosis and treatment of monogenic diabetes.

The National Human Genome Research Institute and the Implementing Genomics in Practice network is providing the funding for the project.

Unlike the most common forms of diabetes, type 1 and type 2, which involve multiple genes, monogenic diabetes is caused by a mutation in a single gene. The study being funded with the grant will assess strategies to implement a genetic diabetes program in healthcare settings with an eye toward using it as a model of care for patients with genetic variations in other common ailments, the university said.

According to the study's lead investigator, Toni Pollin, a genetics researcher at the university, most healthcare professionals, including endocrinologists and geneticists, are unfamiliar with the genetic types of diabetes. That, along with the high cost and limited availability of genetic tests, makes diagnosing monogenic diabetes a challenge. A recent study indicated that in the US monogenic diabetes is correctly diagnosed in 6 percent of cases, she added.

"This research will enhance our ability to identify and properly diagnose individuals and families with specific inherited forms of diabetes, tailor treatment to their diagnosis, and identify other family members at risk for developing diabetes," Pollin said in a statement.

The project expands a pilot personalized medicine program at the University of Maryland Center for Diabetes and Endocrinology at UMMC Midtown Campus to include other sites. They include the University of Maryland Family Medicine; the Baltimore Veterans Administration Medical Center; Bay West Endocrinology Associates; and Geisinger Medical System in Pennsylvania.

As part of the study, patients at risk for genetic diabetes will be identified through a screening questionnaire, routine laboratory tests, and a review of their medical and family history. A customized, cost-effective genetic sequencing test will be used to diagnose the patients, who will also be offered customized treatments. Family members will be eligible for genetic counseling and testing, the university said.

By assessing changes in blood-glucose control in patients diagnosed with monogenic diabetes and evaluating the impact of the diagnosis on their lives, researchers will evaluate the clinical impact of the program. They also will engage healthcare payers and collect data to make clinical practice recommendations and will provide guidance on insurance coverage decisions, according to the university.

Co-principal investigator Alan Shuldiner said he anticipates the project to provide a framework for integrating genetic testing into clinical practice. "We are reaching out to implement genomic medicine beyond academic hubs into diverse healthcare settings and in the community at large," he said.