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Test That Quickly Identifies Illnesses In Babies Expanding To More California Hospitals

Rady Children's Hospital announcing its participation in a new state-funded p...

Credit: Matt Hoffman/KPBS

Above: Rady Children's Hospital announcing its participation in a new state-funded program to provide genome testing and sequencing to critically ill newborns, Sept. 26, 2018.

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."

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Rady Children's has used genome sequencing as a diagnostic 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.

"When we used to do genetic testing we could look at — imagine one sheet of paper — one gene at a time," said Dr. Lauge Farnaes with Rady Children's Institute for Genomic Medicine. "When we do genome sequencing we’re able to look at the entire plan all at once."

Being able to look at someone's entire makeup saves valuable time which doctors say can save lives.

"Coming up with a diagnosis when the devastation has already happened when the child has been injured is much less useful than coming up with a diagnosis when you still have a chance to do something about this," Farnes said.

Farnes said in two-and-a-half years more than 1,300 people have gotten the advanced test. He said the test was 30 to 40 percent positive in finding illnesses or diseases.

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."

Reported by Roland Lizarondo

Rady Children's Hospital Wednesday announced its participation in a new state-funded program to provide genome testing and sequencing to critically ill newborns.

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