2016 AMP: Study of Visual Review and Sanger Confirmation Outcomes in Exome Sequencing Testing

Next-­generation sequencing (NGS) is widely used in Exome Clinical Diagnostic Testing. However, the main current standard of care for reporting germline small variants such as Small Nucleotide Changes (SNVs) and indels remains orthogonal confirmation through capillary sequencing. We investigated the necessity of capillary confirmation to achieve clinical-­grade quality and accuracy in the presence of a rigorous visual review process. The ultimate goal has been to determine on whether an orthogonal confirmation Policy Change was clinically sound from a Quality Assurance perspective.