title: The first FDA marketing authorizations of next-generation sequencing technology and tests: challenges, solutions and impact for future assays.
abstract: The rapid emergence and clinical translation of novel high-throughput sequencing technologies created a need to clarify the regulatory pathway for the evaluation and authorization of these unique technologies. Recently, the US FDA authorized for marketing four next generation sequencing (NGS)-based diagnostic devices which consisted of two heritable disease-specific assays, library preparation reagents and a NGS platform that are intended for human germline targeted sequencing from whole blood. These first authorizations can serve as a case study in how different types of NGS-based technology are reviewed by the FDA. In this manuscript we describe challenges associated with the evaluation of these novel technologies and provide an overview of what was reviewed. Besides making validated NGS-based devices available for in vitro diagnostic use, these first authorizations create a regulatory path for similar future instruments and assays.
authors.affiliation: Division of Molecular Genetics and Pathology, Office of In Vitro Diagnostics and Radiological Health (OIR), CDRH, US FDA, 10903 New Hampshire Ave, Silver Spring, 20993, USA.
authors.forename: Karen
authors.initials: K
authors.lastname: Bijwaard
authors.forename: Jennifer S
authors.initials: JS
authors.lastname: Dickey
authors.forename: Kellie
authors.initials: K
authors.lastname: Kelm
authors.forename: Živana
authors.initials: Ž
authors.lastname: Težak
mesh_terms: D005069:Evaluation Studies as Topic; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D040541:Marketing; D025202:Molecular Diagnostic Techniques; D017422:Sequence Analysis, DNA; D014481:United States; D014486:United States Food and Drug Administration
keywords: assay; cystic fibrosis; diagnostic; high throughput sequencing; instrument; medical device; next generation sequencing; regulation; sequencing by synthesis