Mav and KingsmoreRapid Whole Genome Sequencing study made possible by philanthropic partnership

Imagine a family—let’s call them the Smiths—celebrating the birth of their first baby. Mom is recovering from labor, dad is texting photos of their newborn to all their eager relatives, and baby is resting in the nursery.

But in the middle of that first night, a nurse notices the baby making strange, jerky motions. He’s turning purple. She whisks the baby to the neonatal intensive care unit (NICU) and alerts the Smiths: Their son just had a seizure.

Babies do sometimes have seizures as newborns for various reasons that are not uncommon or terribly worrisome.  But the Smith’s baby keeps having seizures, and none of the standard tests explain what is going on. The doctors are concerned. The Smiths are terrified.

“It feels helpless and hopeless to have to tell a family, ‘We don’t know what is going on,’” says Dr. Muhammad Javed, division head of Neonatology at OSF Healthcare Children’s Hospital of Illinois.

Thanks to a new project funded entirely by philanthropy, here’s where the Smith’s story can take a turn toward hope.

Cooperative philanthropy makes OSF Children’s Hospital a select study site

A new collaboration with Rady’s Children’s Institute for Genomic Medicine in San Diego, California (RCIGM), will make an advanced diagnostic technology called rapid whole genome sequencing (rWGS) available for families like the Smiths.

A simple blood test, the rWGS will scan the baby’s whole genetic code to find answers to “clinical question marks.”

Dr. Javed sees rWGS as a “game changer” that one day will become the norm in neonatology. He is excited that philanthropy makes it possible to start this work right now, right here in Peoria.

“We have an opportunity to participate and really give back to the field–and to give a chance of hope to those families,” he says.

Rady Children’s is matching $100,000 to augment a local anonymous gift of $200,000 to fund the program’s first year. “The only way we could make this available to our local children and families is because of the generosity of others. The impact on local families who will benefit from this is immeasurable,” says Tom Hammerton, president of OSF HealthCare Foundation.

How rWGS benefits families

The Smith family and their doctors need answers, and fast. Traditional diagnostic methods, based on best guesses and standard genetic testing, might take weeks or even months—an eternity for worried parents.

With rWGS, the Smiths will have hope for faster answers—typically in less than 3 days. A faster answer means:

  • Doctors can diagnose a genetic condition and provide personalized care for the baby
  • The baby is relieved of needless suffering from extra tests and procedures.
  • The family experiences reduced stress and anxiety.

While not all diagnosed diseases have treatments, having rapid answers gives the baby the possibility of achieving the best possible health outcomes. “As the only full service children’s hospital in Illinois outside Chicago, it is right for us provide this kind of care for families,” says Mike Wells, president of OSF Children’s Hospital. “We have a history of being pioneers in children’s medicine, and we believe children in central Illinois should have this care.”

Partners in Pioneering

OSF Children’s Hospital’s participation in this initiative with RCIGM will not only help individual patients, but also help advance the science of precision medicine. With each new baby diagnosed, the pool of knowledge about rare genetic diseases and how to treat them will grow.

“We are delighted to have OSF Children’s Hospital join our network of hospitals expanding the availability of rapid genomic medicine to children in Peoria,” said Stephen Kingsmore, president and CEO of RCIGM. “Whole genome sequencing is changing the practice of medicine and we’re excited to connect the expertise and resources of our two organizations to improve the quality of care for critically ill babies in central Illinois.”

This project will directly impact local children. Alone each patient’s illness is rare, but when their individual stories are put together, they have the power to transform neonatal and pediatric medicine.  And thanks to our community’s philanthropic heart and pioneering spirit, OSF Children’s Hospital will help advance the science of genomic medicine.