Four-year study will use genetic information and electronic health records

FOR IMMEDIATE RELEASE:

DANVILLE, PA -- 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 and to tailor medical care to people based on their genetic makeup. 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).

Marc S. Williams, M.D., director of the Genomic Medicine Institute, and Marylyn D. Ritchie, Ph.D., 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.

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 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 has changed dramatically over the last 8 years,” Dr. Williams noted. “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 100+ genes with a focus on genes that are clinically actionable.”

“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.

“eMERGE has been described as the NHGRI’s flagship program for clinical implementation of genomic medicine,” Dr. Williams said. “Geisinger has championed the inclusion of familial hypercholesterolemia (FH), a condition that leads to early heart attacks in families. If identified it is treatable with available medications that can prevent premature disease and death. FH is a high priority for Geisinger Health System and we look forward to providing leadership for eMERGE in collaboration with investigators from the Mayo Clinic and the FH Foundation.”

"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," said Rongling 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."

As part of their study, the Geisinger researchers also plan to collect and analyze environmental data in order to study the interaction between genetics and the environment.

 

About Geisinger
Geisinger is an integrated health services organization widely recognized for its innovative use of the electronic health record and the development of innovative care delivery models such as ProvenHealth Navigator®, ProvenCare® and ProvenExperience®. As one of the nation’s largest health service organizations, Geisinger serves more than 3 million residents throughout 45 counties in central, south-central and northeast Pennsylvania, and also in southern New Jersey at AtlantiCare, a Malcolm Baldrige National Quality Award recipient. In 2017, the Geisinger Commonwealth School of Medicine and Geisinger Jersey Shore Hospital became the newest members of the Geisinger Family. The physician-led system is comprised of approximately 30,000 employees, including nearly 1,600 employed physicians, 13 hospital campuses, two research centers, and a 583,000-member health plan, all of which leverage an estimated $12.7 billion positive impact on the Pennsylvania and New Jersey economies. Geisinger has repeatedly garnered national accolades for integration, quality and service. In addition to fulfilling its patient care mission, Geisinger has a long-standing commitment to medical education, research and community service. For more information, visit www.geisinger.org, or connect with us on Facebook, Instagram, LinkedIn and Twitter.

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