National Academy of Medicine

Evaluating the Clinical Utility of Genomic Variants Derived from Next-Generation Sequencing for Opportunistic Disease Screening and Risk Assessment: Evidence Gaps and Priorities

By Muin J Khoury, Ann Cashion, Paul R. Billings
February 05, 2015 | Discussion Paper

Next-generation sequencing is increasingly used in the diagnosis and management of suspected Mendelian diseases of unknown cause and in precision medicine approaches to cancer treatment. In the course of sequencing, additional genetic information can be generated that is unrelated to the initial reason sequencing was performed. This incidental information presents an opportunity to screen individuals for current asymptomatic disease or future risk of disease. This discussion paper, the fourth of seven individually authored commentaries that explores the evidence needed to support the use of genome sequencing in the clinic, examines the evidence gaps and requirements for use of incidental findings for the purpose of opportunistic disease screening and risk assessment.

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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.