GeneDx announces data on whole exome, genome sequencing report fewer VUS

GeneDx announced that Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics, ACMG, has published a peer-reviewed research analysis resulting from a multi-lab collaboration involving GeneDx. The study, “The landscape of reported Variants of Uncertain Significance, VUS, in multi-gene panel and genomic testing: Time for a change,” evaluated the rate of inconclusive genetic variants, or variants of uncertain significance, reported with multi-gene panels versus exome and genome sequencing. Study findings concluded that VUS are reported more frequently on multi-gene panels than exome and genome sequencing. Study Design: For this study, 19 clinical laboratories in North America provided deidentified summary data from a two-year period for a collective 1.5 million sequencing test results. Aggregate statistics were calculated for tests with inconclusive results that included at least one VUS. Study Results Include: Exome and genome sequencing tests demonstrated lower rates of reported VUS compared to multi-gene panel tests. Importantly, the study found: Variants of uncertain significance were reported less frequently on exome and genome sequencing than multi-gene panels. The use of trios reduces the rate of VUS for exome and genome sequencing compared to proband-only or duo testing. Data from this study was previously presented at the American Society of Human Genetics, ASHG, 2022 Annual meeting.