Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance

Abstract

Clinical laboratories are beginning to use next-generation sequencing (NGS) for the testing of patient samples. This chapter addresses regulatory and professional standards that have been developed and are under consideration to assure the quality of NGS testing in the clinical setting. The major topics addressed include test validation, quality control procedures, proficiency testing, and reference materials. Considerations for the establishment of performance specifications, such as accuracy, precision, analytic sensitivity, and analytic specificity, for NGS applications are discussed. Emphasis is placed on aspects unique to NGS, such as the reliance on an “informatics” pipeline to process the platform-generated data and challenges to the establishment and use of reference materials, quality control procedures, and proficiency testing. While there are significant benefits to clinical testing achievable through the use of NGS, the complexities associated with its use in the clinical laboratory are significant and will require an evolving set of standards to keep up with the rapidly advancing technology.