The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis

CONCLUSION: In this study three out of nine VUS could be re-classified as likely pathogenic after clinical follow-up. In order to protect pregnant couples from the burden of uncertain results, the genetic professionals have to take the responsibility to limit the reporting of VUS. This can be done not only by automated filtering of data, by following professional guidelines and by building standardized decision flows, but also by discussing individual cases considering personal situations and the involved disease and by sharing professional experience and responsibility in a multidisciplinary prenatal team setting.PMID:37709011 | DOI:10.1016/j.ejmg.2023.104844

Source: European Journal of Medical Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: Karin E M Diderich Jasmijn E Klapwijk Vyne van der Schoot Myrthe van den Born Martina Wilke Marieke Joosten Kyra E Stuurman Lies H Hoefsloot Diane Van Opstal Hennie T Br üggenwirth Malgorzata I Srebniak Source Type: research