Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update

open access
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics : Genetics in Medicine
 17 November 2016

....The intent of the original incidental findings recommendations¹ was that clinical diagnostic laboratories performing exome or genome sequencing should report known pathogenic (KP) or expected pathogenic (EP) variants in the 56 American College of Medical Genetics and Genomics (ACMG) genes even when unrelated to the primary medical reason for testing. Subsequently, the ACMG revised the terminology to “secondary findings” (SFs) because these genes are intentionally being analyzed, as opposed to genetic variants found incidentally or accidentally; the shift in terminology also maintained consistency with a recommendation by the Presidential Commission on Bioethical Issues.² An additional modification to the original policy included offering an option to opt-out of receiving SFs for individuals undergoing clinical genomic sequencing (GS).³ This revision was due, in part, to results from a survey of ACMG members in which more than 80% of respondents supported an option for patients undergoing GS to decline SF analysis following appropriate counseling. In addition, more than 90% of respondents supported a minimum list of SFs that would be updated and refined over time. This article concluded that according to its membership, the ACMG “should update a list of genes to be assessed when clinical genome-scale sequencing is performed. Informed consent is necessary, and reporting of secondary findings should be optional.”^4.....