Zaira Bezares, a clinical laboratory scientist at Rady Children’s Institute for Genomic Medicine, prepares reagents in the lab. Rady uses artificial intelligence to speed up genome sequencing.

Zaira Bezares, a clinical laboratory scientist at Rady Children’s Institute for Genomic Medicine, prepares reagents in the lab. Rady uses artificial intelligence to speed up genome sequencing. Photo by Jamie Scott Lytle.

Rady Children’s Hospital holds a world record for fastest genomic diagnosis. Instrumental in the feat: artificial intelligence.

Advances in AI are helping San Diego hospitals — Rady, Scripps Health and Sharp HealthCare — diagnose patients and identify warning signs.

The technology trains a computer to perform tasks normally requiring human intelligence, in what promises to increase efficiency and lower costs. But hospitals must also be mindful of unintended consequences.

AI has recast industries, from manufacturing to software design, while the technology isn’t yet widespread in hospitals. They’re sitting on ever-larger amounts of data ripe for AI.

Rady Children’s uses rapid genome sequencing to diagnose perplexing cases, a process involving two forms of AI: machine learning and natural language processing. Combined, they identify a person’s genetic variants and other significant data, pointing to the root cause of illness.

Rady said the automated workflow — recently documented in the journal Science Translational Medicine — saves time and cuts down on costs, opening the door for wider hospital adoption.

Proper Deployment

“It’s just not sustainable to introduce new, highly expensive technologies into health care without figuring out how to deploy them in a way that saves costs,” said Dr. Stephen Kingsmore, CEO of Rady Children’s Institute for Genomic Medicine.

Last year, Rady published a study showing AI-powered sequencing saved from $800,000 to $2 million among six newborns, part of an analysis published in NPJ Genomic Medicine.

Now, Rady is leading a $2 million Medi-Cal pilot gauging whether genetic sequencing delivers on care and costs. It involves Rady sequencing tough-to-diagnose babies at its hospital and three others. Positive results may convince Medi-Cal, which insures low-income Californians, to pay for quick-turnaround infant testing. Medi-Cal reimbursement would likely convince insurers to get on board as well.

19.5 Hour Sequencing

Rady pioneered rapid whole-genome sequencing, which looks at a person’s entire set of DNA. Last year, the hospital and partners like San Diego’s Illumina sequenced a newborn’s genome in only 19.5 hours, a Guinness World record.

The hospital system found automated interpretation almost always concurs with physicians. Still, humans check AI’s work — and vice versa.

“There were a couple cases where the human interpretation had failed to give a diagnosis, which we found by our AI-based method,” Kingsmore said. “We know that humans aren’t perfect.”

Kingsmore sees AI freeing up time for physicians to focus on patients. Fitting then that the Rady genomics institute was featured in “Deep Medicine: How Artificial Intelligence Can Make Healthcare Human Again,” a new book written by Eric Topol, director of Scripps Research Translational Institute.

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