When Moments Matters: Finding Answers with Rapid Exome Sequencing

Specialty Areas:

Date: November 28, 2017

Authors:

Brian Schoenfeld, Deepali N. Shinde, Erika Palmaer, Jesse M. Hunter, John M. Graham, Kathryn Singh, Kelly D. Farwell Hagman, Kirsten Blanco, Linda Marie Randolph, Margaret Au, Meghan C. Towne, Natalie Gallant, Sha Tang, Zöe Powis

Journal: Molecular Genetics & Genomic Medicine

Collaborators:

Cedar Sinai Medical Center

Children's Hospital Los Angeles

Memorial Care Health System

Read Abstract

Abstract

Background

When time is of the essence in critical care cases, a fast molecular diagnosis is often necessary to help health care providers quickly determine best next steps for treatments, prognosis, and counseling of their patients. In this paper, we present the diagnostic rates and improved quality of life for patients undergoing clinical rapid exome sequencing.

Methods

The clinical histories and results of 41 patients undergoing rapid exome sequencing were retrospectively reviewed.

Results

Clinical rapid exome sequencing identified a definitive diagnosis in 13/41 (31.7%) and other relevant findings in 17 of the patients (41.5%). The average time to verbal report was 7 days; to written report was 11 days.