July 20, 2024


Epicurean Science & Tech

Early Genome Sequencing Improves Care for Critically Ill Infants

3 min read
Early Genome Sequencing Improves Care for Critically Ill Infants

sick baby in a hospital bed

Infants in the ICU who received whole genome sequencing (WGS) were twice as likely to get a diagnosis and a change of management than those who did not get early sequencing, according to a paper released today from a multi-center collaboration by The NICUSeq Study Group.  This paper adds evidence to the argument that WGS has a significant impact on clinical management of critically ill infants.

“About 30% of infants received a diagnosis,” says Ryan Taft, corresponding author of the JAMA Pediatrics paper and Vice President of Scientific Research at Illumina.  “That is consistent with other places doing regular sequencing of these patients, including in the UK and at Rady [Children’s Hospital in San Diego].”

“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 are throughout life,” said Chester Brown, Genetics division chief, Le Bonheur Children’s Hospital and the University of Tennessee Health Science Center (UTHSC). UTHSC was one of the participating centers.

The NICUSeq Randomized Time-Delayed Trial included 354 infants with a range of ethnicities from five US academic medical centers and affiliated children’s hospitals.  “There are a lot of single center studies showing the benefits of WGS in this population,” says Taft. “We wanted to show that this can be beneficial anywhere, and for any patients.”

While these single center studies have shown remarkable results, sequencing for critically ill newborns is still hard to access.  Illumina, which is the world’s leader in sequencing instrumentation, and others have been amassing evidence of its value.

As the paper describes, the results were consistent across the sites. The infants were: 56.8% boys, 5.4% Asian, 13.3% black, 70.6% white, 10.7% of “other” ethnicity.

Patients either received WGS results at 15 days or 60 days. Outcomes were measured up through 90 days. Notably, the rate of diagnosis and change of management doubled for both patients who received early (15 day) and delayed (60 day) results.

“That tells us that standard of care is front loaded,” says Taft. “Once the infants test negative by standard means, they are not getting any other testing or change in management.” WGS results, however, lead to changes in at least a third of these children’s care.

Participating medical centers included 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 Country 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.

“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 Brown.

The major hurdles to broader use, Taft explains, are reimbursement, clinician awareness, and improved laboratory infrastructure, including analytical tools, to make this process faster and easier.

Health insurance companies have held back, and many clinicians are just not aware of how useful WGS can be for such patients.  Taft adds that “During the previous ten years, it felt like a miracle to generate the data and do the analysis on a single patient.  Now, I’m looking at how can I do this on 1000s of patients.”


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