SAN DIEGO -- Rady Children's Hospital Wednesday announced its participation in a new state-funded program to provide genome testing and sequencing to critically ill newborns.
Under the $2 million Medi-Cal program titled Project Baby Bear, the hospital will use rapid whole genome sequencing as a diagnostic test for babies in intensive care. Pediatricians from the Rady Children's Institute for Genomic Medicine will administer genome sequencing as a diagnostic tool on babies at four participating hospitals statewide.
"We are honored to be selected as the first California children's hospital to use the Medi-Cal platform to deliver access to this life-changing test to children who need it, regardless of their family's ability to pay," said Dr. Donald Kearns, Rady Children's president and CEO. "California is once again leading the way in improving the lives of children and families with Project Baby Bear."
Rady Children's has used genome sequencing as a diagnosis tool since 2016, but only in clinical trials due to the cost. Medi-Cal hasn't covered sequencing until now, and funding has only come from research grants and philanthropic donations.
Kara Coltrin was in a trial program last year. As a newborn, her son Maverick, suffered unrelenting seizures that nearly killed him. “They were trying everything to get his seizures to stop because he was having as many as 30 an hour.”
After multiple tests and treatments doctors still couldn’t identify the cause, that’s when they decided to use Whole Genome Sequencing (WGS) and were finally able pinpoint the cause.
“He had a rare form of epilepsy so they were able to administer proper medication, the b-6, which his anti seizure medication would not do.”
Sen. Toni Atkins, D-San Diego, state Health and Human Services Secretary Michael Wilkening and Assemblymen Todd Gloria, D-San Diego and Brian Maienschein, R-San Diego, joined pediatricians from Rady Children's to celebrate the launch of the project. Maienschein co-chairs the California Legislative Rare Disease Caucus in the state legislature, which supported the program.
"We are enormously grateful to the leadership of our elected officials in California for their willingness to support this important demonstration project," said Dr. Stephen Kingsmore, president and CEO of the Institute for Genomic Medicine. "It's our belief that rapid whole genome sequencing should become a first-line diagnostic test and standard of care in neonatal intensive care units everywhere."