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Geisinger genomics director says EHRs key to effective use of genetic information

CONTACT: Patti Urosevich, 570-204-1848
Sept. 24, 2013     

DANVILLE, Pa. – Geisinger Health System’s director of the Genomic Medicine Institute believes that making a patient’s genetic test results available in the electronic health record (EHR) is a win for patients – and for their doctors. But he is also clear that much work needs to be done before it’s a reality.

Insights of several research teams actively engaged in integrating genomic medicine into the electronic health record, including an editorial co-authored by Marc S. Williams, M.D., Geisinger Health System, Danville, Pa., and Joseph Kannry, M.D., Mt. Sinai Medical Center, New York City are featured in the October 2013 issue of Genetics in Medicine.

In the editorial the prominent pair of genomics researchers state that: "Successfully integrating genomics into clinical care requires a vision, a strategy that will achieve the vision, and an actionable implementation plan."

The research led by Drs. Williams and Kannry and many other members of the National Human Genome Research Institute (NHGRI)-funded Electronic Medical Records and Genomics (eMERGE) network explores a variety of issues related to including genetic information in Electronic Health Records (EHR) including storage and representation of the information, education about use of the information at the point of care and solutions to concerns about privacy, confidentiality, access and portability.

“If we believe that there is information in the genome that is going to lead to more effective and safer therapies, we need to solve these issues,” said Dr. Williams. “We are basically trying to build a bridge over a canyon, and you can’t leave out any of the key structural elements and expect the bridge to hold together. We really need to solve these problems if we want to move to what some people are calling precision medicine."

Genetic tests can now tell us whether we are at increased risk of various cancers, heart or kidney disease, asthma and a number of other conditions. Or, whether you will respond to certain medicines or be harmed by side effects linked to your genetic code.

But harnessing that information to benefit individual patients and prevent illnesses in others will require that doctors have access to genomic information for each patient. As health records are converted to digital form, the most likely place to store and retrieve genomic information will be EHR. But when and how that happens will depend on having good models to build upon.

In addition to the contributions that derive from the research and experiences of individual sites that comprise the eMERGE Network additional perspective is provided by a commercial EHR vendor and by the Clinical Sequencing Exploratory Research network, another NHGRI funded research consortium.

About Geisinger Health System
Geisinger Health System is an integrated health services organization widely recognized for its innovative use of the electronic health record, and the development of innovative care models such as ProvenHealth Navigator® and ProvenCare®. As the nation’s largest rural health services organization, Geisinger serves more than 2.6 million residents throughout 44 counties in central and northeastern Pennsylvania. The physician-led system is comprised of more than 19,500 employees, including a 1,000-member multi-specialty group practice, six hospital campuses, two research centers and a 448,000-member health plan, all of which leverage an estimated $6.1 billion positive impact on the Pennsylvania economy. The health system and the health plan have 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, or follow the latest Geisinger news and more on Twitter and  Facebook.

About Marc S. Williams, MD
Marc S. Williams, MD, FAAP, FACMG is the director of Geisinger’s Genomic Medicine Institute.  Before joining Geisinger, Dr. Williams was director of the Intermountain Healthcare Clinical Genetics Institute in Salt Lake City, Utah.

He earned his medical degree from the University of Wisconsin-Madison and completed a pediatric residency at the University of Utah. He served as a pediatrician until 1999; subsequently pursuing a fellowship and board certification in clinical genetics. He also served as the associate medical director of the Gundersen Lutheran Health Plan. 
He has served on numerous national committees dealing with the role of genetics in healthcare delivery. He is currently chairing the ACMG Ad Hoc Committee on the Value of a Genetic Diagnosis and is serving on the secondary findings working group that recently produced the report on Incidental findings in whole exome and genome sequencing that was approved and published by the ACMG in 2013.  He founded the American College of Medical Genetics Quality Improvement Special Interest Group. He is the Editor-in-Chief of the Manual on Reimbursement for Medical Genetic Services.  He has authored over eighty articles in the peer-review medical literature and is a frequent presenter at national and international meetings. Dr. Williams is the Co-Principal Investigator of Geisinger Health System’s eMERGE project.

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