Use of Biosynthetic Controls as Performance Standards for Next-Generation Sequencing Assays of Somatic Tumors: A Multilaboratory Study.

Autor:	De Abreu FB; Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH, and the Geisel School of Medicine, Hanover, NH., Peterson JD; Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH, and the Geisel School of Medicine, Hanover, NH., Deharvengt SJ; Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH, and the Geisel School of Medicine, Hanover, NH., Daber R; BioReference Laboratories, Elmwood Park, NJ., Sarsani VK; The Jackson Laboratory for Genomic Medicine, Farmington, CT., Spotlow V; The Jackson Laboratory for Genomic Medicine, Farmington, CT., Harrington RD; Molecular Characterization and Clinical Assay Development Laboratory, Leidos Biomedical Research Inc., and Frederick National Laboratory for Cancer Research, Frederick, MD., Lih CJ; Molecular Characterization and Clinical Assay Development Laboratory, Leidos Biomedical Research Inc., and Frederick National Laboratory for Cancer Research, Frederick, MD., Williams PM; Molecular Characterization and Clinical Assay Development Laboratory, Leidos Biomedical Research Inc., and Frederick National Laboratory for Cancer Research, Frederick, MD., Bouk CH; Molecular Characterization and Clinical Assay Development Laboratory, Leidos Biomedical Research Inc., and Frederick National Laboratory for Cancer Research, Frederick, MD., Konigshofer Y; Seracare Life Sciences, Gaithersburg, MD., Huang C; Seracare Life Sciences, Gaithersburg, MD., Anekella B; Seracare Life Sciences, Gaithersburg, MD., Davis L; Seracare Life Sciences, Gaithersburg, MD., Garlick RK; Seracare Life Sciences, Gaithersburg, MD., Ferreira-Gonzalez A; Virginia Commonwealth University, Richmond, VA., Dumur CI; Virginia Commonwealth University, Richmond, VA., Fernandes H; Weill Cornell Medical Center, New York City, NY; and., Haralampu S; Beta-Innovations, Belmont, MA., Tsongalis GJ; Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH, and the Geisel School of Medicine, Hanover, NH.
Jazyk:	angličtina
Zdroj:	The journal of applied laboratory medicine [J Appl Lab Med] 2017 Sep 01; Vol. 2 (2), pp. 138-149.
DOI:	10.1373/jalm.2017.023085
Abstrakt:	Background: Next-generation sequencing (NGS) assays are highly complex tests that can vary substantially in both their design and intended application. Despite their innumerous advantages, NGS assays present some unique challenges associated with the preanalytical process, library preparation, data analysis, and reporting. According to a number of professional laboratory organization, control materials should be included both during the analytical validation phase and in routine clinical use to guarantee highly accurate results. The SeraseqTM Solid Tumor Mutation Mix AF10 and AF20 control materials consist of 26 biosynthetic DNA constructs in a genomic DNA background, each containing a specific variant or mutation of interest and an internal quality marker at 2 distinct allelic frequencies of 10% and 20%, respectively. The goal of this interlaboratory study was to evaluate the Seraseq AF10 and AF20 control materials by verifying their performance as control materials and by evaluating their ability to measure quality metrics essential to a clinical test. Methods: Performance characteristics were assessed within and between 6 CLIA-accredited laboratories and 1 research laboratory. Results: Most laboratories detected all 26 mutations of interest; however, some discrepancies involving the internal quality markers were observed. Conclusion: This interlaboratory study showed that the Seraseq AF10 and AF20 control materials have high quality, stability, and genomic complexity in variant types that are well suited for assisting in NGS assay analytical validation and monitoring routine clinical applications. (© 2017 American Association for Clinical Chemistry.)
Databáze:	MEDLINE
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