ACMG Secondary Findings: A Reporting Dilemma

Since 2013, the American College of Medical Genetics and Genomics (ACMG) has provided guidance for laboratories regarding the reporting of specific clinically actionable secondary findings. These recommendations apply to patients who undergo sequencing tests such as whole exome sequencing or whole genome sequencing (WES/WGS). To date, ACMG has not provided specific guidance as to how these findings should be reported in the context of duo or trio WES/WGS for which parental secondary finding results need to be considered. There have been anecdotal reports of family members encountering difficulties with receiving treatment or treatment coverage because their results are within a proband’s report. In addition, including all member’s results in one report may conflict with HIPAA privacy protections as medical records will include PHI from other members. Here, a review of laboratories was performed to identify how these entities handle secondary findings and options for reporting that are available to providers and patients using these laboratories.