Preanalytic Variables and Tissue Stewardship for Reliable Next-Generation Sequencing (NGS) Clinical Analysis.

Details

Serval ID
serval:BIB_9D4DDEC2C2EE
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Preanalytic Variables and Tissue Stewardship for Reliable Next-Generation Sequencing (NGS) Clinical Analysis.
Journal
The Journal of molecular diagnostics
Author(s)
Ascierto P.A., Bifulco C., Palmieri G., Peters S., Sidiropoulos N.
ISSN
1943-7811 (Electronic)
ISSN-L
1525-1578
Publication state
Published
Issued date
09/2019
Peer-reviewed
Oui
Volume
21
Number
5
Pages
756-767
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review
Publication Status: ppublish
Abstract
An enduring goal of personalized medicine in cancer is the ability to identify patients who are likely to respond to specific therapies. Our growing understanding of the biology and molecular signatures of individual tumor types has facilitated the identification of predictive biomarkers and has led to an increasing number of diagnostic tests to be performed, often as serial and distinct assays on limited tumor specimens. The biomarker diagnostics field has been revolutionized by next-generation sequencing (NGS), which provides a comprehensive overview of the genomic profile of a tumor. Many preanalytic variables can influence the accuracy and reliability of NGS results. Standardization of preanalytic variables is, however, complicated by the plethora of specimen acquisition and processing methods. Variables across the tissue journey, including specimen acquisition, specimen fixation, and sectioning, as well as postfixation processing, such as nucleic acid extraction, library preparation, and choice of sequencing methods, are critical for the reliability of NGS analysis; thus, standardization would be beneficial. In this article, each step in the tissue journey is outlined, with specific focus on preanalytic variables that can influence NGS results. Practical considerations for standardization of these variables are provided to facilitate accurate, reliable, and reproducible NGS-based molecular characterization of tumors, ultimately informing diagnosis and guiding treatment.
Keywords
Gene Library, High-Throughput Nucleotide Sequencing/methods, High-Throughput Nucleotide Sequencing/standards, Humans, Neoplasms/diagnosis, Neoplasms/genetics, Precision Medicine, Sequence Analysis, DNA/methods, Specimen Handling/standards
Pubmed
Open Access
Yes
Create date
18/07/2019 16:59
Last modification date
09/07/2020 5:22
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