The CDC’s Next-Generation Sequencing (NGS): Standardization of Clinical Testing workgroup has published recommendations for quality management for next-generation sequencing in clinical labs addressing accuracy in variant calling. The guidelines address test validation, quality control, third-party test assessment and reference materials. The workgroup sought approaches for a quality management system for analytical validity and compliance of NGS tests with regulatory and quality requirements, such as those of the Clinical Laboratory Improvement Amendments (CLIA). The complexity of NGS, as well as the informatics analyses it warrants, necessitate adjustment to CLIA standards. The working group issued modified definitions of accuracy, precision, analytical sensitivity, analytical specificity, reportable range and reference range. The guidelines, which will be revised as NGS tests develop, address issues such as the lack of an official proficiency testing program, quality control metrics for evaluating analytical performance, and platform, test-specific and informatics validation.

Source: Nature Biotechnology