On the Justifiability of ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing

Abstract

In spring 2013 the American College of Medical Genetics and Genomics (ACMG) Working Group on Incidental Findings in Clinical Exome and Genome Sequencing (hereafter “Working Group”) released a report of “Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing,” the culmination of a three-year long consensus project. The Working Group recommended that a number of incidental findings, which they define as “the results of a deliberate search for pathogenic or likely pathogenic alterations in genes that are not apparently relevant to a diagnostic indication for which the sequencing test was ordered,” be returned to clinicians (and patients) independent of patient preferences. The Working Group recognized that their recommendations may violate existing ethical norms, but believe this is justified by a fiduciary duty on the part of clinicians and laboratory personnel to prevent harm by warning patients about certain findings, a duty they claim “supersedes concerns about autonomy.”