National Academy of Medicine

Variant Validity (Selected vs. General Population)

By Paul R. Billings, Nalini Raghavachari, Geetha Senthil
June 22, 2015 | Discussion Paper

Advances in genome sequencing represent an unparalleled opportunity to examine the genomic landscape of an individual and potentially identify genetic variants that are relevant for the diagnosis and treatment of disease. However, the identification and interpretation of variants as being causative for disease and relevant to treatment choice can be a significant challenge for the proper application of sequencing in clinical practice. This discussion paper, the second of seven individually authored commentaries that explores the evidence needed to support the use of genome sequencing in the clinic, examines the validation and interpretation of variants from 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.