Challenges in evaluating next-generation sequence data for clinical decisions.

The views expressed in this article are tho organizations, institutions, government agen * Corresponding author: Janet K. Williams, 50 E-mail address: janet-williams@uiowa.ed 0029-6554/$ see front matter 2015 Elsevi http://dx.doi.org/10.1016/j.outlook.2014.08.00 Although genome sequencing using next-generation sequencing (NGS) has the potential to provide answers to clinical diagnosis and treatment questions (Atwal et al., 2014), there is limited evidence for many of these tests to guide clinical use. Genetic testing using NGS can yield a large amount of information, only some of which may be informative in answering the question for which the test was ordered and in some cases creates uncertainty and increased complexity of clinical care (Feero, 2014). These tests can be expensive, and the lack of evidence may influence whether thirdparty payers will cover the test cost. Regardless, genome sequencing using NGS (either whole genome sequencing [WGS] or whole exome sequencing [WES]) is beginning to be used clinically to identify causative variants in patients in whom several gene variants may result in similar clinical diseases. It is also used to

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