Posted: Nov 10, 2023
Ten Years of Incidental, Secondary, and Actionable Findings.
Sharon Plon et al. N Engl J Med 2023 11 (19) 1813-1814
From the paper: "The ACMG has highlighted the fact that the ACMG SF gene lists were not designed to be implemented for population screening outside of research. However, many of the genes that have an effect on life span are also considered to be “tier 1” by the Centers for Disease Control and Prevention; knowledge of their status could have a positive effect on population health. "
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
DT Miller et al, Genetics in Medicine, June 22, 2023
The American College of Medical Genetics and Genomics (ACMG) previously published guidance for reporting secondary findings (SFs) in the context of clinical exome and genome sequencing. The ACMG Secondary Findings Working Group (SFWG) and Board of Directors (BODs) have agreed that the list of recommended genes should now be updated annually, but with an ongoing goal of maintaining this as a minimum list. Reporting of SFs should be considered neither a replacement for indication-based diagnostic clinical genetic testing nor a form of population screening.
Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: yield and dilemmas
LB Salmon et al, Genet Med Open, May 2023
Active search for RRFs, IFs and SFs yields a high rate of findings that may contribute to individual medical care in parents of probands undergoing ES. A structured approach to overcome the challenges associated with reporting these findings should be considered before such active search can be broadly adopted in clinical genomic data analysis.
Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association
AP Landsrtom et al, Circ Genomics & Prec Med, March 27, 2023
The goal of this American Heart Association consensus statement is to provide guidance to clinicians who are called on to evaluate patients with incidentally identified genetic variants in monogenic cardiovascular disease genes and to assist them in the interpretation and clinical application of variants. This scientific statement outlines a framework through which clinicians can assess the pathogenicity of an incidental variant, which includes a clinical evaluation of the patient and the patient’s family and re-evaluation of the genetic variant in question.