Random trials prove that whole-genome sequencing can provide precise care for critically ill children

September 27, 2021

The study population reflects the diversity of American demographics, and the results of the study indicate that whole-genome sequencing should be regarded as the first-line detection method for patients with suspected genetic diseases

San Diego, September 27, 2021/AP A study above reported the results of the NICUSeq random time delay trial

The Children's Hospital of Philadelphia, the University of Nebraska Medical Center (including the Monroe-Meyer Institute), the Orange County Children's Hospital in cooperation with the Omaha Children's Hospital and Medical Center, and the Reddy Genomic Medicine Children's Institute (San Diego) ) Cooperative University of Washington/San Diego

354 children were randomly divided into two groups and received cWGS treatment within 15 days (early group) or 60 days (delayed group) after admission, and the total observation period was 90 days

"NICUSeq's research shows us the importance of large-scale genetic testing of newborns, which helps in early diagnosis of genetic diseases and helps doctors and families make decisions

Importantly, this research reflects the variability of real-world baby care, and according to the researchers, the implementation of whole-genome sequencing is practical and superior to current diversified conventional care practices

Ian Krantz, MD, professor of pediatrics at the Children’s Hospital of Philadelphia, said: “Establishing a clear and important link between diagnosis and improved care management makes the adoption of cWGS as a primary diagnostic test for critically ill newborns a significant weight

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