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.

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