When moments matter: Finding answers with rapid exome sequencing.
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.
['Powis|Zöe|Z|0000-0002-1347-4358', 'Farwell Hagman|Kelly D|KD|0000-0003-1173-052X', 'Blanco|Kirsten|K|', 'Au|Margaret|M|', 'Graham|John M|JM|', 'Singh|Kathryn|K|', 'Gallant|Natalie|N|', 'Randolph|Linda M|LM|', 'Towne|Meghan|M|0000-0001-9460-2368', 'Hunter|Jesse|J|', 'Shinde|Deepali N|DN|', 'Palmaer|Erika|E|0000-0002-8507-0918', 'Schoenfeld|Brian|B|', 'Tang|Sha|S|']
D000293:Adolescent D000328:Adult D002648:Child D002675:Child, Preschool D042241:Early Diagnosis D005260:Female D005820:Genetic Testing D006801:Humans D007223:Infant D008297:Male D000073359:Whole Exome Sequencing
rapid exome exome clinical utility genetic testing