Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

Chen, Elaine; M. Facio, Flavia; Aradhya, Kerry; Rojahn, Susan; E. Hatchell, Kathryn; Aguilar, Sienna; Ouyang, Karen; C. Saitta, Sulagna; K. Hanson-Kwan, Andrea; Nakousi‐Capurro, Nicole; Takamine, Eriko; Shekhar Jamuar, Saumya; McKnight, Dianalee; Johnson, Britt; Aradhya, Swaroop

doi:10.1001/jamanetworkopen.2023.39571

Public

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

Published in JAMA Network Open • Oct 25, 2023

Authors:

Elaine Chen

Flavia M. Facio

Kerry Aradhya

Abstract

Importance: Variants of uncertain significance (VUSs) are rampant in clinical genetic testing, frustrating clinicians, patients, and laboratories because the uncertainty hinders diagnoses and clinical management. A comprehensive assessment of VUSs across many disease genes is needed to guide efforts...

Subject

Genetic testing

Medicine

Ethnic group

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