Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

ABSTRACT: Implementation of next-generation DNA sequencing (NGS) technology into routine diagnostic genome care requires strategic choices. Instead of theoretical discussions on the consequences of such choices, we compared NGS-based diagnostic practices in eight clinical genetic centers in the Netherlands, based on genetic testing of nine pre-selected patients with cardiomyopathy. We highlight critical implementation choices, including the specific contributions of laboratory and medical specialists, bioinformaticians and researchers to diagnostic genome care, and how these affect interpretation and reporting of variants. Reported pathogenic mutations were consistent for all but one patient. Of the two centers that were inconsistent in their diagnosis, one reported to have found 'no causal variant'

SUBMITTER: Vrijenhoek T 

PROVIDER: S-EPMC4538197 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature