Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

ABSTRACT: Expanded carrier screening (ECS) panels that use next-generation sequencing aim to identify pathogenic variants in coding and clinically relevant non-coding regions of hundreds of genes, each associated with a serious recessive condition. ECS has established analytical validity and clinical utility, meaning that variants are accurately identified and pathogenic variants tend to alter patients' clinical management, respectively. However, the clinical validity of ECS, that is, correct discernment of whether an identified variant is indeed pathogenic, has only been shown for single conditions, not for panels. Here, we evaluate the clinical validity of a >170-condition ECS panel by assessing concordance between >12 000 variant interpretations classified with guideline-based criteria to their c

SUBMITTER: Kaseniit KE 

PROVIDER: S-EPMC6852020 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature