title: Regulating whole exome sequencing as a diagnostic test.
abstract: In the last decade, there has been a flood of new technology in the sequencing arena. The onset of next-generation sequencing (NGS) technology has resulted in the vast increase in genetic diagnostic testing available to the ordering physician. Whole exome sequencing (WES) has become available as a diagnostic test performed in certified clinical laboratories. This has led to increased presence in the diagnostic marketplace, increased consumer awareness, and the question has been raised by various stakeholders to whether there is sufficient stringent regulation of WES and other NGS-based tests. We discuss the various WES services currently available in the marketplace, current regulation of WES as a laboratory developed test, the proposed FDA involvement in its oversight as well as the response of various laboratory groups that provide these diagnostic services. Overall, a rigorous process oversight and assessment of inter-lab reproducibility is strongly warranted for WES as it is used as a diagnostic test, but regulation should be mindful of the excessive administrative burden on academic and smaller diagnostic laboratories.
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.|EGL Genetic Diagnostics, 2165 N. Decatur Rd, Decatur, GA, 30030, USA.
authors.forename: Valentina
authors.initials: V
authors.lastname: Lapin
authors.affiliation: EGL Genetic Diagnostics, 2165 N. Decatur Rd, Decatur, GA, 30030, USA.
authors.forename: Lindsey C
authors.initials: LC
authors.lastname: Mighion
authors.affiliation: EGL Genetic Diagnostics, 2165 N. Decatur Rd, Decatur, GA, 30030, USA.
authors.forename: Cristina P
authors.initials: CP
authors.lastname: da Silva
authors.affiliation: EGL Genetic Diagnostics, 2165 N. Decatur Rd, Decatur, GA, 30030, USA.
authors.forename: Ymkje
authors.initials: Y
authors.lastname: Cuperus
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.|EGL Genetic Diagnostics, 2165 N. Decatur Rd, Decatur, GA, 30030, USA.
authors.forename: Lora J H
authors.initials: LJ
authors.lastname: Bean
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. mhegde@emory.edu.|EGL Genetic Diagnostics, 2165 N. Decatur Rd, Decatur, GA, 30030, USA. mhegde@emory.edu.
authors.forename: Madhuri R
authors.initials: MR
authors.lastname: Hegde
mesh_terms: D003955:Diagnostic Tests, Routine; D059472:Exome / Q000235:genetics*; D005820:Genetic Testing; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing / Q000639:trends*; D006801:Humans; D057089:Pathology, Molecular / Q000639:trends*
keywords: CAP; CLIA; FDA; Laboratory developed tests; NGS; Regulatory guidelines