For this genomic medicine pilot demonstration project, researchers at the University of Maryland School of Medicine are implementing and evaluating a Personalized Diabetes Medicine Program (PDMP) in four diverse health care settings to enhance the identification of individuals and family members affected by monogenic diabetes.

Principal Investigator

pollin_mdToni I. Pollin, MS, PhD

University of Maryland School of Medicine
Associate Professor
Departments of Medicine and Epidemiology & Public Health

Project Description

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Diabetes mellitus, a term describing a group of disorders characterized by high blood sugar, affects nearly 30 million individuals in the United States and is a leading cause of death and disability. At least 1-2% of diabetes (approximately 300,000 to 600,000 individuals or more) results from a mutation in a single gene and is known as monogenic diabetes. For a number of reasons including clinical similarity, historically high testing cost, and lack of awareness, most cases, approximately 95%, of monogenic diabetes are misdiagnosed as the much more common and genetically more complex type 1 (T1DM) or type 2 diabetes (T2DM).

Having a correct diagnosis of monogenic diabetes can enable more personalized and often less invasive treatment, resulting in better glucose control, better prediction of disease course, and better prediction of diabetes risk in family members. For example, about half of those diagnosed with the rare condition of permanent diabetes in infancy have a specific genetic cause of their diabetes that enables effective treatment with oral medication alone rather than insulin injections, and 50% of their children are at risk for inheriting the same form of diabetes.

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Personalized Diabetes Medicine Program (PDMP)

The PDMP is based at the University of Maryland Center for Diabetes and Endocrinology and is being disseminated to three partner centers: the Baltimore Veterans Administration Medical Center (BVAMC, with opportunities to disseminate nationally), Geisinger Medical Center (an integrated health system) and Bay West Endocrinology Associates (a community-based private practice group). In addition, we will be engaging the community at large through media advertisements and health fairs.

The PDMP consists of: a screening procedure using a simple patient questionnaire, chart/electronic health record (EHR) review, routine lab testing, and detailed family history review to identify patients most likely to have monogenic diabetes; sequencing relevant genes of eligible patients using next generation sequencing technology followed by confirmation of diabetes-causal mutations in our CLIA-approved Translational Genomics Laboratory; incorporation of mutations and decision support in the EHR; genetic counseling; implementing a mutation-based treatment strategy and family screening; and establishing a PDMP registry of diabetes-causal variants and variants of unknown clinical significance to inform ongoing clinical and research efforts.

We are tracking implementation metrics of the PDMP and conducting an impact evaluation, including evaluation of clinical outcomes as measured by changes in glycemic control in patients diagnosed with a monogenic form of diabetes. Finally, we are engaging a Payer Advisory Panel in the development of the impact evaluation process to enhance our ability to collect meaningful evidence to inform clinical practice recommendations and guide insurance coverage decisions as a first step to enabling implementation of an evidence-based PDMP to diagnose inherited forms of diabetes across the United States.