The American College of Medical Genetics and Genomics (ACMG) has previously published policy statements on the reporting of secondary findings in clinical exome and genome sequencing (ACMG SF v1.0 and ACMG SF v2.0), also known as the “ACMG 56” and “ACMG 59,” respectively.1,2 These recommendations specifically stated that “reporting some incidental [a.k.a. secondary] findings would likely have medical benefit for the patients and families of patients undergoing clinical sequencing” (ACMG board’s emphasis). The ACMG SF v2.0 list of genes was not validated for general population screening. The use of ACMG SF v2.0 for purposes other than reporting incidental findings after clinical sequencing is not endorsed by ACMG. Many of the ACMG SF v2.0 genes have uncertain penetrance when identified in asymptomatic individuals (e.g., SCN5A and Brugada syndrome).3 This policy statement is meant to reduce unproven interventions based solely on genotype information. In the absence of penetrance data that can only be obtained through robust genotype–phenotype correlation, the medical ethical principle of nonmaleficence should dominate.

  • The ACMG strongly discourages any reference to the term ACMG SF v2.0 (or ACMG 59) outside of the reporting of incidental findings after clinical sequencing.

  • Further, ACMG SF™, ACMG 59™, ACMG 56™, and related words and designs incorporating ACMG™, are trademarks of the American College of Medical Genetics and Genomics and may not be used without permission.

  • The ACMG encourages further ascertainment of genotype–phenotype correlation and research to establish the efficacy of interventions in asymptomatic patients with pathogenic and likely pathogenic variants in known associated genes.