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Human Genome Epidemiology, 2nd EditionBuilding the evidence for using genetic information to improve health and prevent disease$
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Muin Khoury, Sara Bedrosian, Marta Gwinn, Julian Higgins, John Ioannidis, and Julian Little

Print publication date: 2009

Print ISBN-13: 9780195398441

Published to Oxford Scholarship Online: May 2010

DOI: 10.1093/acprof:oso/9780195398441.001.0001

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Rapid, evidence-based reviews of genetic tests

Rapid, evidence-based reviews of genetic tests

(p.482) 24 Rapid, evidence-based reviews of genetic tests
Human Genome Epidemiology, 2nd Edition

James M. Gudgeon

Glenn E. Palomaki

Marc S. Williams

Oxford University Press

Genetic and genomic tests are rapidly emerging from the efforts of the Human Genome Project. As of August 2009, GeneTests listed 599 laboratories testing for 1,772 diseases, of which 1,498 are offered clinically. Between 1997 and 2007, the number of clinically offered tests has increased at an annual rate of about 25%. Even this is an underestimate, since registration is voluntary and tests for somatic mutations are not included. Many more tests are in the development pipeline, and as they enter the medical marketplace, clinicians, policy makers, and health care payers must make decisions about provision or coverage in a timely and affordable manner. This chapter summarizes how reviews of the evidence on validity and utility of genomic information can be done systematically and rapidly, even in the face of incomplete information.

Keywords:   genomic information, genetic tests, evidence-based review

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