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

Overview

abstract

  • Advances in technology that have transpired over the past 2 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 a clinically relevant time frame and with manageable costs comes the question of whether we ought to and when. This review focuses on the relative merits of 3 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.

publication date

  • June 9, 2017

Research

keywords

  • Exome
  • Genome-Wide Association Study
  • Hematologic Neoplasms
  • High-Throughput Nucleotide Sequencing

Identity

PubMed Central ID

  • PMC5813726

Scopus Document Identifier

  • 85026294405

Digital Object Identifier (DOI)

  • 10.1182/blood-2017-03-734533

PubMed ID

  • 28600338

Additional Document Info

volume

  • 130

issue

  • 4