The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.

ABSTRACT:

Objectives

To evaluate the clinical usefulness of rapid exome sequencing (rES) in critically ill children with likely genetic disease using a standardized process at a single institution. To provide evidence that rES with should become standard of care for this patient population.

Study design

We implemented a process to provide clinical-grade rES to eligible children at a single institution. Eligibility included (a) recommendation of rES by a consulting geneticist, (b) monogenic disorder suspected, (c) rapid diagnosis predicted to affect inpatient management, (d) pretest counseling provided by an appropriate provider, and (e) unanimous approval by a committee of 4 geneticists. Trio exome sequencing was sent to a reference laboratory that provided verbal report within 7-10 d

SUBMITTER: Freed AS 

PROVIDER: S-EPMC7736066 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature