BETHESDA, MD – May 20, 2021 | The American College of Medical Genetics and Genomics (ACMG) has just released an updated policy statement and gene list for the reporting of secondary findings (SF). Together, these two documents update the recommendations for SF reporting and unveil the highly anticipated recommended minimum gene list (SF v3.0) for reporting secondary findings in clinical exome and genome sequencing. The ACMG also declares its intent to update the SF gene list now annually, with a goal of publishing the updated list each January.
The two papers, “Recommendations for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing, 2021 Update: a Policy Statement of the American College of Medical Genetics and Genomics” and “ACMG SF v3.0 List for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing: a Policy Statement of the American College of Medical Genetics and Genomics,” are the culmination of several years of work by the ACMG Secondary Findings Working Group (SFWG) and are being published in ACMG’s official journal, Genetics in Medicine.
The ACMG SF v3.0 Includes 73 Genes
The paper also announces the highly anticipated next list of genes for the return of secondary findings, SF v3.0, which now includes 73 genes. It states that the ACMG Secondary Findings Working Group built upon the solid foundation of the earlier policy statements, making adjustments in response to updates in the medical literature and feedback from the medical genetics community. They also outline a new framework to update the ACMG SF list annually, and on a predictable schedule that will facilitate integration into laboratory and clinical workflows.