National Academy of Medicine

Analytic Validity of Genomic Testing

By Victoria Pratt, Debra G. B. Leonard
January 15, 2015 | Discussion Paper

The advent of genome sequencing has changed our fundamental understanding of the underlying basis of disease. It has opened up new avenues for diagnosing disorders, provided new targets and pathways for both drug and diagnostic development efforts, and has allowed us to treat individual patients with medicines that are more effective or less deleterious. However, sequence data can have a high false positive rate and interpretation of the information remains one of the greatest challenges. This discussion paper, one of seven individually authored commentaries that explores the evidence needed to support the use of genome sequencing in the clinic, examines the challenges involved in and opportunities for demonstrating the analytic validity of a next generation sequencing-based test.

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Disclaimer: The views expressed in this paper are those of the authors and not necessarily of the authors’ organizations, the National Academy of Medicine (NAM), or the National Academies of Sciences, Engineering, and Medicine (the National Academies). The paper is intended to help inform and stimulate discussion. It is not a report of the NAM or the National Academies. Copyright by the National Academy of Sciences. All rights reserved.