Twins' Cure A First Victory For Genome Testing

For years, scientists have predicted that knowing the whole human genetic code would pay off huge dividends in diagnosing and treating disease. The promise has largely remained just that. Now, a pair of 14-year-old twins has become among the first to benefit from a whole-genome test. NPR health and science correspondent Richard Knox talks to host Scott Simon about the breakthrough that essentially cured the twins' disease within days.

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SCOTT SIMON, host:

This is WEEKEND EDITION from NPR News. I'm Scott Simon.

We hear a lot these days about how scientists can now map out all of our genes and this will revolutionize medicine. But it's not so clear just how or when tests reveal our entire genetic code whats called our genome might actually help people.

NPR's Richard Knox has been learning this week about one family whose lives have already been changed by this relatively new technology, and says it's one of the first examples.

Dick, tell us what happened.

RICHARD KNOX: Well, it involved two California twins, Alexis and Noah Beery. They were born in 1996, so they're now about 15. When they were age two, they got diagnosed with cerebral palsy. I've seen videos and they have the contorted posture and the jerky movements that kids with this disease have. But their mother, Retta Beery, just didn't buy it.

SIMON: Mm-hmm.

KNOX: For one thing, she noticed that the symptoms were much better in the morning and they got worse as the day went on, and that's not typical of cerebral palsy. So she scoured the Internet and she found a newspaper article that described a rare disease called DRD. It stands for dopa-responsive dystonia, and it's a deficiency of the neurotransmitter, dopamine. Fortunately, this disease responds to a drug that's given to Parkinson's patients called L-dopa. And when these kids were given L-dopa in a very small dose, within just a few days they became normal healthy kids. I've seen videos of Alexis playing the piano and dancing and climbing rock walls. So it was amazing.

SIMON: Well, I mean that in of itself sounds like a very satisfactory ending. So how did the genome test come into it?

KNOX: Well, that wasn't the end of the story. When the kids got to their teenage years they began to have other problems. Noah what was awkward. He had trouble paying attention in school and other things. Alexis had severe breathing problems. They almost lost her a couple of times. And the doctors couldn't figure it out. And Retta Beery got mobilized again. It turns out that her husband Joe, by this point worked for a California company that makes the machine that sequenced genes. So one thing led to another and this company asked one of their big customers, Baylor College of Medicine, if it might make sense to sequence the genes of these two kids to see if they could find something that would explain what was going on. By the way, I should say this report appears in the current issue of the journal Science Translational Medicine.

They did find the gene that they hadn't suspected before. The defect that they found responded to a pretty simple treatment and once again these kids lives were transformed and today they're doing fine.

SIMON: And Richard, help us understand why this case is seen as being so significant.

KNOX: Well, in the bigger sense I think it begins to address a lot of the questions that skeptics have had about the usefulness of gene-sequencing. I mean there's no question it's an elegant technology. It's amazing to be able to spell out every one of the 20,000 genes that anybody has. But what use is it? And I think that this shows very clearly, and one of the first cases to do that, that you can actually use the gene analysis to help people to make difference in their lives.

SIMON: How expensive is it?

KNOX: It has been very expensive, but the cost is coming down.

SIMON: Mm-hmm.

KNOX: The scientists tell me that the Beery twins analysis took a week and cost under $50,000. I mean the sequencing took a week. It took him longer to figure out what was in there. They plan to offer partial gene-sequencing to doctors on a non-research basis later this year and they hope they can keep the price under $5,000. But for now, and with the Beery twins, I think that scientists are feeling just a little bit closer to the use of gene-sequencing in medicine and not just in science.

SIMON: NPRs Richard Knox. Thanks so much.

KNOX: Youre welcome.

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