Two-Day Test Can Improve Molecular Diagnosis in Newborns

Fifty-hour differential diagnosis combines whole-genome sequencing with bioinformatics

THURSDAY, Oct. 4 (HealthDay News) -- A new test that combines whole-genome sequencing with bioinformatics can potentially identify genetic diseases in newborns in the neonatal intensive care unit in about two days, according to a study published in the Oct. 3 issue of Science Translational Medicine.

Carol Jean Saunders, Ph.D., from Children's Mercy Hospital in Kansas City, Mo., and colleagues developed a 50-hour diagnostic system intended for use in neonatal intensive care units called symptom- and sign-assisted genome analysis. The system combines mapping the clinical features of 591 well-established, recessive genetic diseases with pediatric presentations with whole-genome sequencing of the gene-associated regions relevant to clinical presentations.

The researchers found that the method identified known molecular diagnoses in two children. Of four children with unknown diagnoses, they were able to identify a potential or definitive diagnosis in three cases and exclude known candidate genes in the fourth case.

"Thus, rapid whole-genome sequencing can potentially broaden and foreshorten differential diagnosis, resulting in fewer empirical treatments and faster progression to genetic and prognostic counseling," Saunders and colleagues conclude.

The study was partly funded by Illumina, which manufactures the HiSeq 2500 used in the study; several authors are employees of Illumina.

Full Text (subscription or payment may be required)

Copyright © 2012 HealthDay. All rights reserved.

Powered by

jQuery UI Accordion - Default functionality

For life-long learning and continuing professional development, come to Lippincott's NursingCenter.

Nursing Jobs Plus
Featured Jobs
Recommended CE Articles

Debunking Three Rape Myths
Journal of Forensic Nursing, October/December 2014
Expires: 12/31/2016 CE:2.5 $24.95

Drug updates and approvals: 2014 in review
The Nurse Practitioner, 13December 2014
Expires: 12/31/2016 CE:3 $27.95

Can Food Processing Enhance Cancer Protection?
Nutrition Today, September/October 2014
Expires: 10/31/2016 CE:2 $21.95

More CE Articles

Subscribe to Recommended CE

Recommended Nursing Articles Evidence Based Practice Skin Care Network NursingCenter Quick Links What’s Trending Events