[ Back to EurekAlert! ] Public release date: 15-Feb-2013
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Contact: Karen Kreeger
karen.kreeger@uphs.upenn.edu
215-459-0544
University of Pennsylvania School of Medicine

The science of uncertainty in genomic medicine

BOSTON - The notion of "personalizing" health care through the use of an individual's genetic code has attracted considerable enthusiasm and investment. Impressive examples, confirmed through formal studies of clinical validity and utility, suggest that we have only scratched the surface of applications to treat disease more precisely, identify risk factors for complex disease, and guide preventative measures.

As the cost of sequencing entire genomes falls, the opportunities for people around the world to take possession of their entire genetic code will proliferate. However, one irony of the precise determination of all 3.2 billion nucleotide pairs is the lack of understanding of the meaning of many sequence variations.

More than 1500 single nucleotide variations are associated with risks for more than 200 complex diseases, but despite their commercialization, these account for a small proportion of heritability of these diseases.

In both translational science and clinical practice, the substantial uncertainty in interpreting genomic information serves as an important barrier to application. Coping with uncertainty can be addressed quantitatively, but how the information is so far understood, presented, and interpreted by physicians and patients has been best addressed qualitatively. Interdisciplinary teams of professionals may be best suited to study the many facets of uncertainty in genomic medicine.

Reed Pyertiz, MD, PhD, the director of Penn CIGHT, the Center for the Integration of Genetic Healthcare Technologies, is moderating a session called, "The Science of Uncertainty in Genomic Medicine," at the 2013 American Association for the Advancement of Science Annual Meeting in Boston, on Friday, February 15, 2013: 10:00 AM-11:30 AM, Room 313, Hynes Convention Center. Pyeritz is available for interviews on the topic of genomic medicine and its uses in clinical care. Penn CIGHT is at the Perelman School of Medicine, University of Pennsylvania.

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Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $4.3 billion enterprise. The Perelman School of Medicine is currently ranked #2 in U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $479.3 million awarded in the 2011 fiscal year. The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania -- recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; and Pennsylvania Hospital the nation's first hospital, founded in 1751. Penn Medicine also includes additional patient care facilities and services throughout the Philadelphia region. Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2011, Penn Medicine provided $854 million to benefit our community.



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