whole genome sequencing


Robert Green: Newborn Sequencing Is the Goal Here in the U.S.

"If you go to a scientific meeting, even with the greatest critics, and you ask, how many people in this audience believe that your entire genome will be part of your everyday medical care in fifty years, every person will raise their hand. So the only questions we’re debating are: how do we get there, how soon can we get there, and what evidence base must we have in place before we get there? What’s really exciting to me is getting there sooner rather than later. If we get there 20 years sooner, we are saving thousands of people's lives.”

That’s today’s guest, Robert Green, Professor of Medicine at Harvard Medical School and a physician-scientist who directs the Genomes2People Research Program at Brigham and Women’s Hospital, the Broad Institute, and Ariadne Labs. It's with this program that Robert and his team have led the MedSeq and BabySeq studies.

Robert says when he first announced BabySeq, a study to do whole genome sequencing for thousands of newborns, there was a lot of push back in the community. Is there a built-in tension between his desire to democratize genomic information on the one hand and to do clinical trials on the other? We ask him this and many more questions in a show that pulls back the curtain on the latest efforts to bring whole genome sequencing into the day-to-day practice of medicine.

Orchid Health Is 1st in the World to Offer Whole Genome Couple's Report

First comes love, then comes marriage; then comes the genomic couple's report.  Isn't that how the line goes?

Perhaps that's a how it will begin to go.

Today's guest is the founder of Orchid Health, which as of this week is offering the world’s first risk prediction couple’s report. Based on whole genome sequencing from a saliva sample that expectant parents take from home, the report will tell them their genetic risk for the major diseases, including brain, heart, cancer, diabetes, and inflammatory bowel.

Noor Saddiqui joins us today. Before founding Orchid, she taught reproductive technology at Stanford and did AI research at the Stanford AI Lab.

Orchid is already backordered for their couple’s report and is planning to offer embryo reports later in the year based on whole genome sequencing as well. The couple’s report could be considered an expanded version of carrier screening panels. The embryo reports might be thought of as expanded preimplantation screening.

“I think that people are very sympathetic to the idea of mitigating disease risk. People are on board with the idea of giving couples information to make an informed choice so they can have the healthiest child given their genetics,” says Noor. “What is rightfully more controversial is things like enhancements, or things like eye color. People are much less sympathetic to that, which is not about promoting the health of the child.”

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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