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Geisinger research team plays major role, helps author New England Journal of Medicine paper 


DANVILLE, PA -- Geisinger investigators David H. Ledbetter, Ph.D., FACMG, executive vice president and chief scientific officer, Geisinger Health System; and Christa Martin, Ph.D., FACMG, director (both at right), Geisinger Autism and Developmental Medicine Institute (ADMI) and senior investigator; are among the genomic medicine experts who authored a paper profiling the Clinical Genome (ClinGen) Project, which was be published online by The New England Journal of Medicine ( on Wednesday, May 27.

Completed in April 2003, the Human Genome Project represented a landmark international research effort that mapped the genes making up human DNA. The ClinGen Project is building upon the Human Genome Project by harnessing data from hundreds of thousands of clinical genetics tests being performed each year and determining which variants are most relevant to improving patient care.

“We’re dealing with massive amounts of information: more than 80 million genetic variants have been discovered to date, and for most of them, we have no clear understanding of their role in human health and disease,” said Heidi Rehm, Ph.D., the paper’s lead author, who is an associate professor of pathology at Brigham and Women’s Hospital and director of the Laboratory for Molecular Medicine at Partners HealthCare Personalized Medicine. “As genetic sequencing becomes more common, interpreting data in a meaningful way and standardizing practices is imperative. The enormity of the situation is daunting, but the potential impact on patient care has immense implications.”

“The ClinGen Project builds upon several years of work supporting data sharing among a large group of clinical cytogenetic laboratories through the International Standards for Cytogenomic Arrays (ISCA) Consortium,” said Martin. “By expanding our scope to include more types of genomic variants from a broader range of contributors, we will provide increased benefit to the community, including clinicians, laboratories, researchers and patients.”

Ledbetter and Martin founded the ISCA Consortium in 2007. Their initial effort has evolved into a major component of the ClinGen Project.

Clinicians and researchers hope to use information about genetic variants not only to make predictions about an individual’s risk of disease, but also to develop more accurate clinical trials and better, tailored treatments and care for patients – one of the major goals of President Obama’s recently announced Precision Medicine Initiative (

Members of ClinGen are actively working with laboratories around the world to help them share their data and implement standards developed by the American College of Medical Genetics and Genomics for interpreting genetic variants, with the goal of resolving interpretation differences.

An integral part of ClinGen is ClinVar: a database that contains more than 170,000 variant submissions from laboratories around the world. ClinGen has formed expert working groups to interpret the strength of gene-disease relationships, resolve differences in the interpretation of variants’ clinical significance found in ClinVar, and move variants into the category of “expert panel reviewed” so they can be used more confidently in clinical decision-making.

The ClinVar database is publicly accessible, meaning that clinicians and researchers as well as patients can look up information to find out what is known about a specific genetic variant, and the site gets an average of 5,000 hits per day.

With Geisinger investigator W. Andrew Faucett, M.S., CGC, as the lead, ClinGen has also set up a patient portal where those who are interested in sharing their genetic data and health information can register. Known as GenomeConnect ( ), the portal connects clinicians, patients and researchers to learn about the effects of genetics on human health and disease. Patients who have had genetic testing can share their results and take surveys to share information about their health. De-identified information will be transferred to ClinVar and other ClinGen resources for advancing genomic knowledge and participants will receive updates when there are opportunities to connect with other participants who share the same condition, gene or genetic variant.

“This patient registry will serve not only as a community resource for individuals undergoing genetic testing, but as an innovative resource essential in the interpretation of genomic variants,” Ledbetter said.

Geisinger is also a key participant in another aspect of the ClinGen Project led by Marc Williams, M.D., FACMG – identifying clinically relevant variants and incorporating this information into patient care through their electronic health record.

ClinGen is funded by the National Human Genome Research Institute, with additional funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Cancer Institute. ClinVar is supported by the Intramural Research Program of the NIH, National Library of Medicine.

About Geisinger
Geisinger is committed to making better health easier for the more than 1 million people it serves. Founded more than 100 years ago by Abigail Geisinger, the system now includes 10 hospital campuses, a health plan with more than half a million members, a research institute and the Geisinger College of Health Sciences, which includes schools of medicine, nursing and graduate education. With more than 25,000 employees and 1,700+ employed physicians, Geisinger boosts its hometown economies in Pennsylvania by billions of dollars annually. Learn more at or connect with us on Facebook, Instagram, LinkedIn and Twitter.

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