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The World Record That Could Save Lives

Dr. Stephen Kingsmore's team is the first to achieve a genetic diagnosis in just 26 hours


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Stephen Kingsmore is the president and CEO of the Rady Children's Institute for Genomic Medicine

The first effort to sequence our genome, the Human Genome Project, took 13 years—an amazing feat, though not immediately relevant for patients. But now researchers from San Diego and Kansas City have made that leap, achieving genetic diagnoses in 26 hours—a new Guinness World Record.

This is a big deal. Many children born with genetic conditions wait years for answers. Infants with acute conditions can die before being diagnosed. Sequencing a sick kid’s genome—finding the genetic variants hidden in DNA’s four billion bases and quickly determining the significance of those variants—could provide crucial diagnostic information and drive life-saving treatments.

On April 25, National DNA Day, Stephen Kingsmore, president and CEO of the Rady Children's Institute for Genomic Medicine, along with collaborators from Children’s Mercy Hospital in Kansas City and San Diego-based Illumina and Edico Genome, celebrated their world record at Rady Children’s Hospital. But the achievement means far more than international bragging rights.

“Diagnosing acutely ill babies is a race against the clock, which is why it's so essential for physicians to have access to technology that will provide answers faster and help set the course of treatment,” said Kingsmore a few days before the ceremony.

The project, which was conducted by Kingsmore at Children’s Mercy, bested the team’s previous record of 50 hours. To shave off those crucial hours, the group used an Illumina sequencing machine optimized to move faster (kind of like putting a Tesla in insane mode). From there, the gene reads were put through Edico’s DRAGEN platform, which is designed to analyze genomic data.

The whole process took 26 hours from blood sample to initial diagnosis, results that could have a big impact on sick infants. In the original study, 65 percent of the diagnoses improved care.

But this was only one study on a handful of kids. The next step for Kingsmore and colleagues is to scale up the process so that every hospital NICU can take advantage of fast sequencing.

“I look forward to collaborating with both parties (Illumina and Edico) to implement this approach at Rady Children's Institute for Genomic Medicine and ultimately neonatal and pediatric intensive care units across the country,” said Kingsmore.

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