SAN DIEGO (NEWS 8) – Rady Children’s Institute for Genomic Medicine is 50 percent of the way to reaching a major goal – the sequencing of 100 critically ill infants.
The state of California gave the Genomics Institute at Rady Children's Hospital $2 million last year to run a genomics testing pilot program called "Project Baby Bear.”
The project is currently taking place in five hospitals across the state. It provides rapid whole genome sequencing tests for critically ill infants. The test can pin point what is wrong when doctors just do not know.
"It surprised me when I first started in medicine that bad things happen and it’s not clear why,” said Dr. Lauge Farnaes, assistant medical director at Rady Children's Genomics Institute.
The test allows doctors to see a DNA variant – which allows them to determine a genetic cause of a disorder and more precisely manage care.
"So taking really sick children and then being able to do the most comprehensive evaluation we can right away so we can try to change management of the patients before permanent damage is done,” said Dr. Farnaes.
The Institute for Genomic Medicine received state funding for Project Baby Bear in September and has successfully saved dozens of infants from several children’s hospitals across California.
“We went from thinking our son was going to die to [a] chunky happy vocal baby boy,” said Kara Coltrin.
The machine that runs the genome sequencing test was made in San Diego at Illumina.
The test is expensive, but once the state see that it reduces health care costs in the long run, while saving lives, it could eventually be covered by insurance.
"Even though it initially looks expensive [we are] saving way more money than the test costs,” said Dr. Farnaes.
The hope is to make the genome test a first-line diagnosis covered by insurance instead of a test of last resort.