Geisinger Genomics Researchers Take Leading Role in Clinical Genome Project

Newswise DANVILLE, Pa. - Four Geisinger Health System researchers have taken center stage in the national arena of genomics thanks to new funding from the National Human Genome Research Institute (NHGRI), an arm of the U.S. National Institutes of Health (NIH). It recently awarded three grants totaling $25 million to initiate the Clinical Genome (ClinGen) Project.

Completed in April 2003, the Human Genome Project represents a landmark international research effort that mapped the genes making up human DNA. Today, the ClinGen Project is now 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.

David Ledbetter, Ph.D., FACMG, executive vice president and chief scientific officer of Geisinger Health System; is principal investigator on two of the grants, one of which also includes Christa Lese Martin, Ph.D., FACMG, director of the Geisinger Autism & Developmental Medicine Institute, as a co-principal investigator. Andy Faucett, MS, CGC, director of policy and education, Geisinger Health System, is a key contributor to the ClinGen efforts, as is Marc S. Williams, M.D., FACMG, director, Geisinger Genomic Medicine Institute (http://www.geisinger.org/research/centers_departments/genomics/), who will lead efforts to make Geisinger the first institution in the nation to pilot the incorporation of this information into electronic health records.

Drs. Ledbetter and Martin founded the International Standards for Cytogenomic Arrays (ISCA) Consortium in 2007. Their initial effort has evolved into the ClinGen Project.

Because of the grant award and the major role Geisinger researchers played in securing it, Geisinger patients may now be among the first in the nation to bear witness to the benefits of advances in personalized medicine.

Technological advances are quickly allowing genome-wide analysis to become commonplace in the care of patients. However, the ability to detect DNA variants has greatly surpassed the ability to interpret their clinical impact, which has thus far limited the benefit of these technologies, said Dr. Ledbetter. Improving genomic interpretation will require a coordinated effort from both the clinical and research communities.

The ClinGen Project builds upon several years of work supporting data sharing of structural genomic variants among a large group of clinical cytogenetic laboratories through the ISCA Consortium, said Martin. By expanding our scope to include both structural and sequence variants, we will provide broader benefit to the community.

In 2012, Ledbetter and Martin, along with Joyce Mitchell, Ph.D. , University of Utah, Salt Lake City; Robert Nussbaum, M.D., University of California, San Francisco; and Heidi Rehm, Ph.D., Brigham and Womens Hospital and Harvard Medical School, Boston, Mass.; founded the International Collaboration for Clinical Genomics (ICCG), an organization of laboratories, clinicians and researchers dedicated to improving the quality of genomic testing through data sharing and collaboration.

As part of the ClinGen Project, the ICCG (www.iccg.org) has been awarded an $8.25 million U41 grant from the NHGRI and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, divisions of NIH, to continue its work to develop a unified clinical genomics database from clinical laboratories. The ICCG will work closely with a team at the National Center for Biotechnology Information (NCBI), part of the National Library of Medicine, a division of the NIH, to develop a database to house the data, known as ClinVar

A unique aspect of this project is that it represents a strong public-private partnership that relies on the collaboration between academic and commercial genetic testing laboratories, many of which have not participated extensively in such an effort in the past. The project will result in improved patient care through data sharing that supports evidence-based curation of genes and variants.

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Geisinger Genomics Researchers Take Leading Role in Clinical Genome Project