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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.


Contact: Karen Kreeger
University of Pennsylvania School of Medicine

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