Secondary findings on diagnostic exome sequencing: Patient preferences and detection rates based on 1500 DES samples tested at a single clinical laboratory in the United States.

: Diagnostic exome sequencing (DES) involves the simultaneous analysis of virtually all exonic and flanking intronic sequences. Consequently, DES may result in the identification of secondary findings (SF), which are incidental deleterious variants unrelated to the testing indication. In 2013, the American College of Medical Genetics and Genomics (ACMG) issued recommendations pertaining to the reporting of disease-causing mutations within 56 genes identified incidentally during exome or genome analysis.