Genome-Wide vs. Panel vs. Single-Gene Testing: Choosing the Right Approach in Hematologic Malignancies
This review weighs the relative merits of single-gene assays, targeted gene panels, and whole-exome/genome sequencing for molecular diagnostics in myeloid and lymphoid malignancies. Through specific clinical use cases, the authors illustrate how the optimal sequencing strategy depends on the diagnostic question, turnaround time requirements, and actionability of findings.
The original study
The relative utilities of genome-wide, gene panel, and individual gene sequencing in clinical practice.
- Authors
- Kuo FC, Mar BG, Lindsley RC, Lindeman NI
- Journal
- Blood
- Type
- Journal Article, Review
- PMID
- 28600338
Original 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.