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Publication Citation: Next-generation Sequencing: Guidance for the Translation from Research to Clinical Applications

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Author(s): Justin M. Zook; Amy Gargis; Lisa Kalman; Ira Lubin;
Title: Next-generation Sequencing: Guidance for the Translation from Research to Clinical Applications
Published: November 08, 2012
Abstract: We would like to draw your readers‰ attention to the Next-generation Sequencing: Standardization of Clinical Testing (Nex-StoCT) guidelines, which represent an initial step toward ensuring that the results derived from next-generation sequencing (NGS) -based tests are accurate and useful for clinical decision making. The Centers for Disease Control and Prevention established a national workgroup composed of experts with knowledge and experience with NGS, including clinical laboratory directors, clinicians, platform and software developers, informaticians, representatives from relevant government agencies and accreditation bodies, and others involved in initiating similar activities in a number of professional organizations. This workgroup collaborated to define platform-independent quality metrics needed to assure analytic validity and develop guidance for applying existing regulatory and professional standards to NGS. This effort was motivated by the need for a framework to assist researchers with translating NGS technologies into the clinical setting and medical laboratory professionals in complying with regulatory and professional standards related to the analytic phase of testing. The workgroup focused on the use of NGS for the detection of DNA sequence variations associated with heritable human disorders; however, many of the principles derived are relevant to other areas of laboratory medicine that include the diagnosis and prognosis of cancer and infectious disease testing. Workgroup discussions were focused on three topics: 1) validation of clinical NGS tests, 2) quality control (QC) metrics needed to assure and maintain accurate test results, and 3) proficiency testing (PT). Detailed deliberations and recommendations made by the workgroup are contained in the supplemental section of this document, with overarching recommendations presented here.
Citation: Nature Biotechnology
Volume: 30
Pages: pp. 1033 - 1036
Keywords: healthcare; genomics; DNA sequencing; bioinformatics
Research Areas: Molecular Pathology, Clinical Diagnostics, Life Sciences Research, Medical Devices, Standard Reference Materials
DOI: http://dx.doi.org/10.1038/nbt.2403  (Note: May link to a non-U.S. Government webpage)
PDF version: PDF Document Click here to retrieve PDF version of paper (499KB)