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

Author:

Kuo Frank C.123,Mar Brenton G.245ORCID,Lindsley R. Coleman67ORCID,Lindeman Neal I.123ORCID

Affiliation:

1. Department of Pathology, Brigham and Women's Hospital, Boston, MA;

2. Dana-Farber Cancer Institute, Boston, MA;

3. Department of Pathology, Harvard Medical School, Boston, MA;

4. Department of Pediatric Oncology, Boston Children's Hospital, Boston, MA;

5. Department of Pediatrics, Harvard Medical School, Boston, MA;

6. Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA; and

7. Department of Medicine, Harvard Medical School

Abstract

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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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