The American College of Medical Genetics and Genomics Secondary Findings Working Group has recently updated its recommendations.Many would argue that scientific discovery is part luck, part genius, but mostly just a lot of hard work. And no stranger to hard-working scientists would be the ACMG Secondary Findings Working Group which recently completed an update to their 2016 list of recommendations for labs performing clinical genome or exome sequencing for reporting on secondary findings. This list includes genes where variants may be linked to hereditary cancer syndromes or prove to be medically actionable. This updated list, now titled the ACMG SF v3.0, includes genes that had been recommended previously but did not make prior list updates, genes recommended by ACMG members or other professional groups, and also genes categorized as actionable by leading institutions. The list is broken down into four gene subgroups:
inborn errors of metabolism
one miscellaneous group
The selection process includes a review of the nominated genes, a vote by the entire working group, and then evaluation by the ACMG board of directors before final approval. The group wants to encourage ACMG members and other groups to submit genes for review or present any data around variants in specific genes that could impact patients. According to this group, the list will be updated every January.
The new ACMG SF v3.0 list was released recently but BioDiscovery was fully prepared and has already made updates to its ACMG track in our variant interpretation software, NxClinical. If you are currently a NxClinical user and need more information about how to update this track please contact us here. And if you are not currently using NxClinical but would like more information about how our software can help your lab stay up-to-date with the latest variant findings you can learn more here.