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When Moments Matters: Finding Answers with Rapid Exome Sequencing

Specialty Areas:
Date: November 28, 2017
Authors:
Zöe Powis, Kelly D. Farwell Hagman, Kirsten Blanco, Margaret Au, John M. Graham, Kathryn Singh, Natalie Gallant, Linda Marie Randolph, Meghan C. Towne, Jesse M. Hunter, Deepali N. Shinde, Erika Palmaer, Brian Schoenfeld, Sha Tang
Journal: Molecular Genetics & Genomic Medicine
Collaborators:
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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.

Conclusions

Our observations demonstrate the utility and effectiveness of rapid family‐based diagnostic exome sequencing in improving patients care.