Applications.

Abstract

Next generation sequencing platforms and the applications that are offered have revolutionized the way a physician will treat and monitor a patient based on the individual's own genetic make-up. Whether whole genome sequencing, exome sequencing, or targeted sequencing is performed, the information generated must be analyzed, interpreted, and reported correctly. Since the various platforms and application panels are not FDA cleared (with the exception of the Illumina MiSeqDx Cystic Fibrosis Clinical Sequencing Assay and the Illumina MiSeqDx Cystic Fibrosis 139-Variant Assay) clinical laboratorians are faced with the challenge of standardizing and validating the various panels and platforms for appropriate quality management. Therefore, the American College of Medical Genetics and Genomics published guidelines for ordering, test development, validation and reporting of genetic information. These guidelines should be followed by all laboratorians performing NGS to ensure quality results and to provide proper interpretation of all genomic variants identified.