Two Geisinger researchers have been awarded more than $3.5 million to spend the next four years combining DNA sequence information and health information in thousands of patients’ EHRs to study two disorders: familial hypercholesterolemia and chronic rhinosinusitis. The award from the National Institutes of Health was announced this week and is part of the Electronic Medical Records and Genomics (eMERGE) network administered by the National Human Genome Research Institute (NHGRI). The goal is to better understand the genetic basis of disease and to tailor medical care to people based on their genetic makeup.
Research Grant Details
Marc S. Williams, M.D., director of the Genomic Medicine Institute, and Marylyn D. Ritchie, Ph.D., director of biomedical and translational informatics, will examine and test approaches to discussing familial hypercholesterolemia genomic sequencing results with patients and families, and also how family members communicate with one another. They also will look at the impact of the environment on chronic rhinosinusitis.
Familial hypercholesterolemia is a largely underdiagnosed, life threatening and treatable genetic disorder that can cause heart attack and stroke at an early age. In chronic rhinosinusitis, the sinuses surrounding nasal passages become inflamed, do not respond well to treatment and the inflammation can last three months or longer.
Geisinger Health System is one of the nine sites participating in the third phase of the eMERGE Network. Geisinger joined the network’s second phase in 2012. As with the previous phases of eMERGE, Geisinger investigators will collaborate with other network members to study a wide variety of important medical conditions.
“eMERGE-III will be important for furthering research and our understanding of how to effectively use genetic information to inform patient care,” added Dr. Ritchie. “Geisinger is well positioned to play a major role in this project because of the MyCode Community Health Initiative (which is a system-wide biobank linked to our electronic health record), our patient engagement in the project and our breadth and depth of expertise in genomic medicine, analytical genetics and clinical informatics.”
Dr. Ritchie, who also is the Paul Berg Professor of Biochemistry and Molecular Biology at Pennsylvania State University, has been involved in eMERGE from the beginning on several different projects. She said she was thrilled to be participating in the project as part of the Geisinger team.
Familial hypercholesterolemia is a largely underdiagnosed, life threatening and treatable genetic disorder that can cause heart attack and stroke at an early age. In chronic rhinosinusitis, the sinuses surrounding nasal passages become inflamed, do not respond well to treatment and the inflammation can last three months or longer.
“The newly funded projects are focused on discovering genes and gene variants with clinical implications by using the latest sequencing technologies to examine rare and common variants suspected to relate to disease risk and treatment effects,” saidRongling Li, M.D., Ph.D., program director for eMERGE. “The other important component of these grants is implementing what researchers learn about these gene variants into medical settings to improve patient care.”
Additionally, the Geisinger researchers also plan to collect and analyze environmental data in order to study the interaction between genetics and the environment.
