Article
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2023
Rehm Heidi L, Alaimo Joseph T, Aradhya Swaroop, Bayrak-Toydemir Pinar, Best Hunter, Brandon Rhonda, Buchan Jillian G, Chao Elizabeth C, Chen Elaine, Clifford Jacob, Cohen Ana S A, Conlin Laura K, Das Soma, Davis Kyle W, Del Gaudio Daniela, Del Viso Florencia, DiVincenzo Christina, Eisenberg Marcia, Guidugli Lucia, Hammer Monia B, Harrison Steven M, Hatchell Kathryn E, Dyer Lindsay Havens, Hoang Lily U, Holt James M, Jobanputra Vaidehi, Karbassi Izabela D, Kearney Hutton M, Kelly Melissa A, Kelly Jacob M, Kluge Michelle L, Komala Timothy, Kruszka Paul, Lau Lynette, Lebo Matthew S, Marshall Christian R, McKnight Dianalee, McWalter Kirsty, Meng Yan, Nagan Narasimhan, Neckelmann Christian S, Neerman Nir, Niu Zhiyv, Paolillo Vitoria K, Paolucci Sarah A, Perry Denise, Pesaran Tina, Radtke Kelly, Rasmussen Kristen J, Retterer Kyle, Saunders Carol J, Spiteri Elizabeth, Stanley Christine, Szuto Anna, Taft Ryan J, Thiffault Isabelle, Thomas Brittany C, Thomas-Wilson Amanda, Thorpe Erin, Tidwell Timothy J, Towne Meghan C, Zouk Hana
Abstract excerpt
PURPOSE: Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigated the rate of VUS reported on diagnostic testing via multi-gene panels (MGPs) and exome and genome sequencing (ES/GS) to measure the magnitude of uncertain results and explore...
Topics
- Humans
- Genetic Predisposition to Disease
- Genetic Testing