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

Publication date: Available online 25 June 2019Source: The Journal of Molecular DiagnosticsAuthor(s): Paolo A. Ascierto, Carlo Bifulco, Giuseppe Palmieri, Solange Peters, Nikoletta SidiropoulosAn 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 post-fixation processing such as nucleic acid extraction, library preparation, and choice of sequencing methods, are critical for the reliability of NGS analysis and thus standardization would be beneficial. Here, each step in the tissue journey is outlined, with specific focus on preanalytic variables that can influence NGS results. Practical considerations for standardization o...
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research