Geisinger gets millions for genomic work

NIH award enables researchers to take deep dive into two genomic disorders
By Bernie Monegain
09:27 AM

Two Geisinger researchers, leading a large team of investigators, have been awarded more than $3.5 million as part of a national effort to better understand the genetic basis of disease. The research will lead to tailoring medical treatment based on patients' genetic makeup.

[See also: Genomics pose 'daunting' test for EHRs]

The award from the National Institutes of Health is part of the Electronic Medical Records and Genomics, or eMERGE, Network administered by the National Human Genome Research Institute.

Marc S. Williams, MD, director of the Genomic Medicine Institute and Marylyn D. Ritchie, director of biomedical and translational informatics, will spend the next four years combining DNA sequence information and health information in thousands of patients' electronic medical records to study two disorders: familial hypercholesterolemia and chronic rhinosinusitis.

[See also: NIH funds research to integrate genomics into EHRs]

They 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 will look also 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. If identified it is treatable with available medications that can prevent premature disease and death.

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 has changed dramatically over the last eight years," Williams noted in a news release announcing the award. "Phase I was focused on discovery, and Phase II began to introduce implementation of genomic results into the EHR with return of some pharmacogenomics results."

Phase III introduces complete sequencing of a set of more than100 genes, with a focus on genes that are clinically actionable, he said.

"eMERGE-III will be important for furthering research and our understanding of how to effectively use genetic information to inform patient care," added Ritchie. "Geisinger is well positioned to play a major role in this project, she said, because of the MyCode Community Health Initiative, a system-wide biobank linked to Geisinger''s electronic health record, and also because of the patient engagement in the project and Geisinger's breadth and depth of expertise in genomic medicine, analytical genetics and clinical informatics."

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.

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