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The relative utilities of genome-wide, gene panel, and individual gene sequencing in clinical practice

Frank C. Kuo, Brenton G. Mar, R. Coleman Lindsley and Neal I. Lindeman

Abstract

Advances in technology that have transpired over the past two decades have enabled the analysis of cancer samples for genomic alterations, to understand their biologic function, and to translate that knowledge into clinical practice. With the power to analyze entire genomes in clinically relevant time frame and manageable cost, comes the question of whether or not we ought to and when. This review focuses on the relative merits of three approaches to molecular diagnostics in hematologic malignancies - indication-specific single gene assays, gene panel assays that test for genes selected for their roles in cancer, and genome-wide assays that broadly analyze the tumor exomes or genomes. After addressing these in general terms, we review specific use cases in myeloid and lymphoid malignancies to highlight the utility of single gene testing and/or larger panels.

  • Submitted March 14, 2017.
  • Accepted May 9, 2017.