Greater expectations: meeting clinical needs through broad and rapid genomic testing

Abstract: Cancer describes a group of diseases driven by genetic and genomic changes that can occur across hundreds of different genes. Knowledge of the specific variants present in a patient’s cancer can help to predict response to different treatment options, confirm disease diagnosis, and understand a patient’s prognosis and risks, which ultimately leads to improved survival outcomes. The advent of next-generation sequencing (NGS) technology has allowed pathologists to simultaneously profile the sequences of many genes in a single reaction, but not all NGS assays are built the same. While those used for broad genomic profiling are useful to probe large regions of the genome and gather more information about a patient’s tumor, it comes at the cost of relatively long turnaround times (TAT), which may be detrimental to patient care. Conversely, NGS assays used for rapid genomic profiling provide faster results, but may miss detection of variants that are clinically informative. Determining which type of genomic profiling to order depends on a number of factors including the severity of a patient’s illness, standard of care paradigms, and success or failure of previous therapies. Ultimately, the ideal clinical diagnostic laboratory will be able to offer both options to best meet the clinical needs of its patients.

Standort
Deutsche Nationalbibliothek Frankfurt am Main
Umfang
Online-Ressource
Sprache
Englisch

Erschienen in
Greater expectations: meeting clinical needs through broad and rapid genomic testing ; volume:61 ; number:4 ; year:2023 ; pages:654-661 ; extent:08
Clinical chemistry and laboratory medicine ; 61, Heft 4 (2023), 654-661 (gesamt 08)

Urheber
Poveda-Rogers, Corey
Morrissette, Jennifer J.D.

DOI
10.1515/cclm-2022-1016
URN
urn:nbn:de:101:1-2023022413050157213290
Rechteinformation
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Letzte Aktualisierung
14.08.2025, 10:52 MESZ

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Beteiligte

  • Poveda-Rogers, Corey
  • Morrissette, Jennifer J.D.

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