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Genomic Medicine Institute study details whole-genome sequencing research

CONTACT:  Mike Ferlazzo: 570-214-7410, 515-450-2908 (c),
March 12, 2014


DANVILLE, Pa. – A new study by researchers from Geisinger Health System’s Genomic Medicine Institute (GMI) found that it takes an average of four months to conduct the comprehensive case review prior to whole-genome sequencing (WGS) clinical research -- time well spent in unraveling cognitive mysteries for some pediatric patients.

The study of 65 Geisinger families and 75 children or young adults with autism, intellectual or developmental disability and/or congenital anomalies is the first to report on the time required to contact, inform, consent and counsel families prior to WGS testing. It was published online on Feb. 27 in the Journal of Genetic Counseling.

For two referred patients, the pre-testing review identified a causal diagnosis, resulting in $30,000 savings for WGS testing. They were ultimately excluded from the study because those families already had an explanation for their child’s intellectual disability.

But lead author Janet Williams (right), MS, CGC, senior genetic counselor, GMI, says preliminary results from WGS are finding causal diagnoses for 25 to 30 percent of the participants.

“The project was designed to see how to use whole-genome sequencing to find an explanation for the participants’ underlying conditions,” Williams said. “And it appears we will be able to do that for some participants. We will be returning clinically actionable results to the families.”

Andrew Faucett, MS, LGC, director of policy and education, Office of the Chief Scientific Officer, GHS; Bethanny Smith-Packard, MS, CGC, genetic counselor, GMI; Monisa Wagner, Monisa Wagner, MS, PA-C, a member of the clinical staff at Geisinger’s Autism & Developmental Medicine Institute; and Marc S. Williams, M.D., FACMG, director of the GMI; also collaborated on the study.

The researchers published the study to document the whole-genome sequencing research process with hopes of refining it in the future.

“Geisinger is committed to the cost and process analysis of WGS, and that is what ultimately prompted this practical report,” Janet Williams said. “Geisinger is interested in understanding these processes and reporting on them as we integrate genomic information into clinical care to help us determine optimal care for an individual. And moving forward, we will hopefully save some money, but more importantly provide the best care possible to an individual and his or her family.”

Williams says WGS results will be shared with all of the participants families in the near future.

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 20,800 employees, including a 1,000-member multi-specialty group practice, eight hospital campuses, two research centers and a 450,000-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.

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