ACMG Secondary Findings: A Review of Patient Choices in Reporting

Reporting secondary findings on whole exome sequencing (WES) and whole genome sequencing (WGS) tests is guided by recommendations from the American College of Medical Genetics and Genomics (ACMG). ACMG first issued guidance in 2013 on reporting pathogenic/likely pathogenic variants considered medically actionable in a specific list of genes regardless of proband phenotype. The initial guidance did not favor oering individuals the choice to opt out of receiving these findings, however, a revised statement was issued in 2014 that supported offering the choice to receive or not receive secondary findings to individuals being tested. We evaluated internal data to assess patient choices for secondary findings and reviewed the ordering and reporting practices for secondary findings from 15 US-based laboratories offering WES/WGS tests.