whole genome sequencing

When and Why Whole Genome Sequencing Should Be Standard of Care: Stephen Kingsmore of Rady Children’s

There’s an urgency about Stephen Kingsmore. Which is not to say he’s in a rush.

He’s the CEO of the Rady’s Children’s Genomics Institute. He and his team have two world records to their name for the incredible speed of diagnosing a rare disease using whole genome sequencing. The latest is 19.5 hours.

Dr. Kingsmore feels they can even shave time off that. They’re shooting for a new record of somewhere around 12 hours.

"Seriously ill babies don’t have time. They need tests now. Why should whole genome sequencing be different than any other diagnostic test? This is not for intellectual purposes." Says Stephen on today's program.

We’ve heard arguments for whole genome sequencing becoming standard of care before on Mendelspod, but none with this clarity or urgency. The bottom line is this: whole genome sequencing is already standard of care at Rady Children’s, says Stephen, but with an asterisk. The costs are still high, and the team still has work to do to make the argument to payers.

The sequencing center serves hospitals in all four counties of Southern California and is building partnerships around the country. Dr. Kingsmore predicts they will be a model for children's hospitals nationwide.

After the Genomes: Season 1

Image source:  HBO.com

Andy: Surprise! The human genome is still as boring as it always was.

Chris: Oh, come on, you didn’t get turned on by that BAM file?

Andy: Hi, I’m Andy. 

Chris: Hi, I’m Chris, and this is “After the Genomes!”

Andy: Each week for the next three weeks, we’ll be looking back on Game of Genomes, an ongoing series at STAT News written by science journalist, Carl Zimmer.

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