Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.

ABSTRACT: Introduction: Rapid exome sequencing (rES) has become the first-choice genetic test for critically ill patients, mostly neonates, young infants, or fetuses in prenatal care, in time-sensitive situations and when it is expected that the genetic test result may guide clinical decision making. The implementation of rES has revolutionized medicine by enabling timely identification of genetic causes for various rare diseases. The utilization of rES has increasingly been recognized as an essential diagnostic tool for the identification of complex and undiagnosed genetic disorders. Methods: We conducted a retrospective evaluation of our experiences with rES performed on 575 critically ill patients from various age groups (prenatal to adulthood), over a four-year period (2016-2019).

SUBMITTER: Marouane A 

PROVIDER: S-EPMC10800954 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature