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Study Shows Whole-Genome Sequencing Improves Care of Critically Ill Infants

September 27, 2021

Use of clinical whole-genome sequencing 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, according to a new study.

Photo: Ryan Taft, vice president of Scientific Research at Illumina

The study, published in JAMA Pediatrics and conducted by scientists at the sequencing company Illumina and researchers at five Children’s hospitals across the United States, supports the widespread adoption and implementation of clinical whole genome sequencing (cWGS) for newborns in crisis.

Children’s Hospital of Philadelphia, University of Nebraska Medical Center 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, Washington University/St. Louis Children’s Hospital and Le Bonheur Children’s Hospital, and the University of Tennessee Health Science Center took part in study which enrolled a racially and ethnically diverse, and geographically distributed, population of acutely ill infants.

Researchers randomized the patient population of 354 infants 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.

At 60 days, twice as many infants in the early group vs the delayed group received a change of management and a molecular diagnosis. At 90 days, the delayed group showed a doubling of change of management. The most frequent change of management across the observation window were subspecialty referrals (11 percent), surgery or other invasive procedures (4 percent), condition-specific medications (2 percent), or other supportive alterations in medication (3 percent). No differences in length of stay or survival were observed.

“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, Genetics division chief at Le Bonheur Children’s Hospital and the University of Tennessee Health Science Center. “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.”

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, vice president of Scientific Research at Illumina. “This brings us one important step closer to a precision diagnosis for every child that needs one.”

Author: Rare Daily Staff

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