Lab Professionals Call for Changes in Reporting Variants of Uncertain Significance

In their study, Rehm and her colleagues call for changes to reporting practices both at the level of individual laboratory policies and of professional guideline recommendations, both of which she says are just beginning to happen, through two American College of Medical Genetics and Genomics (ACMG) working groups, for instance.

Rehm said one ACMG working group is developing the next sequence variant classification guidelines, which will give guidance for subdividing VUS into three tiers depending on evidence level.
Another working group, she said, will publish guidance on how to use those tiers for reporting and making other recommendations.

Source: https://www.genomeweb.com/sequencing/lab-professionals-call-changes-reporting-variants-uncertain-significance