PEORIA — OSF HealthCare Children’s Hospital of Illinois has begun a collaboration with Rady Children’s Institute for Genomic Medicine to more effectively diagnose and treat critically ill infants.
The collaboration will not only enhance patient care, but also further scientific understanding of rare genetic diseases in children. With each baby diagnosed, the pool of knowledge about rare genetic diseases and how to treat them will grow and be shared with participating institutions around the world.
“We have a history of being pioneers in children’s medicine, and we are pleased to be the first to bring this testing to Illinois and to collaborate with such a world-renowned institution,” said Mike Wells, President, OSF HealthCare Children’s Hospital of Illinois.
The team at Rady’s Children’s Institute in San Diego has pioneered the use of rapid whole genome sequencing to diagnose infants in intensive care and provide the most complete information available about the child’s condition.
RWGS is the most comprehensive and advanced genetic test available. Just a few drops of blood are needed to scan a baby’s entire genetic code for disease-causing errors. Attending doctors typically get results in less than three days. Traditional diagnostics test a few genes at a time, and results can take weeks or months to come back. For babies with a rare disease, the wait for answers can lead to a lifelong disability or even death.
“In the past, we just looked at the big chromosome picture, but, now, with this growing technology we can detect even the slightest deviation in the genetic makeup of a baby that causes a problem,” said Dr. Susan Ramiro, neonatologist and assistant professor of clinical pediatrics at the University of Illinois College of Medicine at Peoria. “We always want to look for an answer to why a baby is sick, and the biggest advantage for this technology is for those babies who are very sick and we don’t know why.”
Dr. M. Jawad Javed, medical director of the Neonatal Intensive Care Unit at OSF Children’s Hospital of Illinois explained the incredible precision the test provides.
“The best way to think about it is when you are standing outside of a forest and you see a bunch of trees in front of you, the chromosomes are essentially each individual tree and you’re able to identify each tree and see if there is one that’s different than another. What we’re able to do now with the technology is not only look at the trees, but we’re able to go deep into the forest and look at a single branch and what part of the branch — if it’s closer to the leaf, is it closer to the trunk — and where those defects lie within the forest themselves,” he said.
The first year of the program is funded, in part, by an anonymous gift of $200,000 to OSF Children’s Hospital of Illinois. It is expected that more than a dozen babies will be tested during the first year of a two-year clinical trial in Peoria.