26 BIG Ideas
The city's leaders in health, science, politics, food, and culture share their game-changing ideas for San Diego in 2016.
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Let’s sequence the genome of every child who needs it.
Dr. Stephen Kingsmore, President and CEO, Rady Pediatric Genomics and Systems Medicine Institute at Rady Children’s Hospital
When a baby is in the NICU, doctors are often treating the symptoms without a diagnosis. If a doc misses the diagnosis in the first week, the consequences could be deadly. Enter Dr. Kingsmore, who came to San Diego in September from Kansas City, where he had been experimenting with genomic sequencing at Children’s Mercy Hospital. Given the nearly 8,000 genetic diseases caused by mutations, Kingsmore sought to make genomic sequencing the standard way of identifying a genetic disease. But testing a child and their parents costs about $22,000. So he spent a year talking to universities and hospitals all around the country, until finally landing at Rady Children’s, where Ernest Rady and his family donated $120 million to establish the institute. By March, the hospital will be sequencing the genome of every child in the NICU and PICU whose condition calls for it. That means receiving a molecular diagnosis in less than a week, sometimes as soon as two days. “Each day of life is not for certain,” Kingsmore says of these babies. “Mortality is high. And complications can be long-term. Every day we can shave off the process is very meaningful.” The project will start in the NICU and PICU, where it’s most urgently needed, but even now Kingsmore’s team is developing strategies for other areas, such as autism and brain cancer.
It will take a decade, but Kingsmore plans to put genomic sequencing into the hands of every child in San Diego who needs it. He is working on the technology with local biotech company Illumina to make the testing faster and cheaper. “Illumina is a big part of the reason I came here. I’ve been working with Illumina for a decade and I knew they were keen to make it happen. Genome sequencing was kind of invented in San Diego. We’re in a position where we can become the world leader,” Kingsmore says. “In a few years, people will fly to San Diego [for treatment] if their child has a genetic disease.”