Next-generation sequencing (NGS) technologies have ushered in a new era of genetic testing with the capability of sequencing multiple genes at a single time.1,2 The overall approach of NGS involves shearing and immobilizing DNA template molecules, usually on a solid surface, for simultaneous sequencing reactions (typically millions to billions) to be performed in parallel.3,4 Gene panel testing refers to sequencing multiple prespecified genes using NGS sequencing platforms. Testing can be performed in the context of assessing for mutations in the germline related to inherited cancer risk, or testing for genetic mutations in a solid tumor or leukemia/lymphoma to gain insights into somatic mutations involved in carcinogenesis and potentially inform targets for treatment.2 Recently, gene panel tests (or multigene panels) using NGS technology have been introduced by several commercial genetic testing laboratories and academic institutions. This article provides an overview of gene panel testing for inherited cancer risk assessment and highlights the potential benefits and emerging challenges of this novel approach to genetic testing.
Ms. Forman has disclosed that she is on the Genetic Counseling Advisory Board for Myriad Genetics, Inc. The remaining authors have disclosed that they have no financial interests, arrangements, affiliations, or commercial interests with the manufacturers of any products discussed in this article or their competitors.
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