Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories

Publication date: Available online 31 December 2018Source: The Journal of Molecular DiagnosticsAuthor(s): Avni Santani, Birgitte B. Simen, Marian Briggs, Matthew Lebo, Jason D. Merker, Marina Nikiforova, Patricia Vasalos, Karl Voelkerding, John Pfeifer, Birgit FunkeComprehensive next-generation sequencing (NGS) tests are increasingly used as first-line tests in the evaluation of patients with suspected heritable disease. Despite major technical simplifications, these assays still pose significant challenges for molecular testing laboratories. Existing professional guidelines and recommendations provide a framework for laboratories implementing such tests, but in-depth, concrete guidance is generally not provided. Consequently, there is variability in how laboratories interpret and subsequently implement these regulatory frameworks. To address the need for more detailed guidance, the College of American Pathologists with representation from the Association for Molecular Pathologists assembled a working group to create a practical resource for clinical laboratories. This initial work is focused on variant detection in the setting of inherited disease and provides structured worksheets that guide the user through the entire life cycle of an NGS test, including design, optimization, validation, and quality management with additional guidance for clinical bioinformatics. This resource is designed to be a living document that is publicly available and will be updated with user and ...

Source: The Journal of Molecular Diagnostics - March 4, 2019 Category: Pathology Source Type: research