Randomized Trial Demonstrates Whole-Genome Sequencing Leads to Precision Care for Critically Ill Infants

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Illumina, Inc. (NASDAQ: ILMN) scientists, together with investigators from five children's hospitals across the US, have co-authored a study published today in JAMA Pediatrics reporting findings from the NICUSeq Randomized Time-Delayed Trial. Results show that the use of clinical whole-genome sequencing (cWGS) outperforms usual care by two-fold both in terms of diagnostic efficacy and change of clinical management of acutely ill newborns suspected of having a genetic condition. The data support the widespread adoption and implementation of cWGS for newborns in crisis.

Children's Hospital of PhiladelphiaUniversity of Nebraska Medical Center (including the Munroe-Meyer Institute) and in partnership with Children's Hospital & Medical Center in Omaha, Children's Hospital of Orange County in conjunction with Rady Children's Institute for Genomic Medicine (San Diego), Washington University/St. Louis Children's Hospital and Le Bonheur Children's Hospital, the University of Tennessee Health Science Center (Memphis, TN) took part in the study which enrolled a racially and ethnically diverse, and geographically distributed, the population of acutely ill infants.

The patient population of 354 infants was randomized to either receive cWGS within 15 days (Early arm) or 60 days (Delayed arm) of admission, with a total observation period of 90 days. In both arms of the study, access to cWGS doubled the proportion of patients receiving a precision diagnosis of their condition and a change of clinical management.

"The NICUSeq study has shown us the importance of large scale genetic testing in newborns, leading to early diagnosis of genetic conditions and helping to inform decision making for physicians and families," said Chester Brown, MD, Ph.D., Genetics division chief, Le Bonheur Children's Hospital and the University of Tennessee Health Science Center (UTHSC). "Having this type of genetic information provides immediate and sustainable benefits that have lifelong value, providing a genetic 'report card' that can be used to help direct medical care throughout life. We are proud that Le Bonheur Children's Hospital and UTHSC were able to contribute to this important effort to improve medical care for babies of the greater Memphis community."

Importantly, the study mirrored the real-world variability of infant care, and as such shows that whole-genome sequencing implementation is practical and superior to current diverse usual care practices, according to the study investigators. "This study demonstrates that whole-genome sequencing for infants with a suspected genetic disease is possible in diverse clinical sites and patient populations," said Ryan Taft, Ph.D., Vice President of Scientific Research at Illumina. "This brings us one important step closer to a precision diagnosis for every child that needs one."

"The clear and important link between establishing a diagnosis and improved care management lends much weight to the adoption of cWGS as a first-tier diagnostic test in critically ill newborns," said Ian Krantz MD, Professor of Pediatrics at the Children's Hospital of Philadelphia.

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