ACMG Secondary Findings Reporting Practices Review

This technical report reviews the practices surrounding the reporting of secondary findings in whole exome sequencing (WES) and whole genome sequencing (WGS) tests, guided by the American College of Medical Genetics and Genomics (ACMG). The report outlines the lack of consensus among laboratories regarding the implementation of ACMG's reporting guidance, particularly concerning patient choices for opting in or out of secondary findings. It presents internal data indicating discrepancies in family member choices regarding secondary findings, highlighting that 9% of families had differing decisions. The report also details the methodologies used to gather data from 15 US-based laboratories, including their consent mechanisms and reporting practices. The findings reveal significant variability in how laboratories approach secondary findings, with 12 out of 15 using either a default opt-in or opt-out strategy. The report concludes that standardizing these practices could enhance patient and provider understanding of secondary findings.