Genome Sequencing For Babies Brings Knowledge And Conflicts : Shots - Health News Technology now exists that makes it possible for doctors to decipher the entire genetic code of a newborn. Should it be done? What about fetuses in the womb? That's now a possibility, and it's stirring intense debate.
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Genome Sequencing For Babies Brings Knowledge And Conflicts

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Genome Sequencing For Babies Brings Knowledge And Conflicts

Genome Sequencing For Babies Brings Knowledge And Conflicts

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MELISSA BLOCK, HOST:

From NPR News, this is ALL THINGS CONSIDERED. I'm Melissa Block.

AUDIE CORNISH, HOST:

I'm Audie Cornish. And we begin this hour with the thousand-dollar genome. Deciphering someone's genetic code once required considerable time and resources but the process has become so efficient in recent years and so much less expensive that it's stirred talk of everyone getting decoded at birth, perhaps even in the womb.

As part on an ongoing series, NPR's Rob Stein explores whether we should delve into our DNA so early in life.

(SOUNDBITE OF BABY CRYING)

ROB STEIN, BYLINE: Every year in the United States, more than four million babies come into the world. And within the first couple of days of each of their lives, a doctor, nurse, or midwife pricks one of their heels to gather a few drops of blood. Doctors use those drops to test for dozens of rare but sometimes terrible genetic conditions, catching kids soon enough to prevent brain damage and other complications, including sometimes death.

But each of those tiny drops of blood also contains every baby's entire genetic code. So, Allan Guttmacher of the National Institute of Health says scientists are starting to use a new test, a new genetic test called whole genome sequencing.

DR. ALLAN GUTTMACHER: Instead of screening for currently maybe something like 30 conditions, it would allow you to screen for hundreds, if not thousands, at birth.

STEIN: That could help doctors prevent a lot more suffering and save many more babies, but that's just for starters. Sequencing lays out a person's entire genetic blueprint, every molecule in someone's DNA. So sequencing every newborn could provide all kinds of clues about how to help them live longer, healthier lives, spotting babies prone to, say, obesity, diabetes, heart attacks or cancer.

GUTTMACHER: So one could imagine a day where knowing someone's entire genome sequence at birth, you could really begin to think about structuring their health care, their dietary choices, their exercise choices, et cetera, et cetera, early in life, in a way that would have an impact on truly lifelong health.

STEIN: But there's a big debate all of this, about whether this flood of genetic information could end up doing more harm than good. So after hearing about this idea of sequencing every baby at birth, I got curious about what new mothers might think.

CHRISTINE ROWAN: I'm Christine Rowan. I'm 32 years old and I live in northern Virginia.

STEIN: Christine Rowan had given birth to her second daughter, Zoe, about nine weeks before we met. Zoe was a preemie and was having trouble breathing. So her mom brought her to the Children's National Medical Center in Washington to get her DNA scanned.

ROWAN: It's funny because when we first had the testing done, we didn't even really think about the fact the testing was going to lay out all of her DNA.

STEIN: But while Christine and her husband were waiting for the results, lots of questions started popping into their heads.

ROWAN: If we have all this information, when do we tell Zoe? You know, do we wait until she's a specific age and say, oh, by the way we have all of your DNA, you know, do you want to see what doctors have found? Or do we kind of keep that to ourselves? Or would it be better to just only get the information we really need and then genuinely not know, so that we don't have to walk down that road? We don't really have that answer, at this moment.

STEIN: Christine Rowan's questions are at the heart of an intense debate over that's raging over sequencing babies. Stefan Timmerman studies newborn screening at UCLA.

STEFAN TIMMERMAN: In theory it sounds absolutely fantastic. Now the reality is that there's a lot of uncertainty about each of the data points you receive. So if people start making life-or-death decisions based on information that is so tenuous at this point, I think this could indeed be a nightmare scenario.

STEIN: A nightmare, because parents could easily get overwhelmed with confusing information about the health of their babies during one of the most sensitive times in their lives. That already happens with what parents get from those little blood spots collected at birth. Mark Rothstein of the University of Louisville says the tests can lead to something called the vulnerable child syndrome.

MARK ROTHSTEIN: They're viewed as medically vulnerable, medically frail. And so while all the other kids are riding bikes and climbing trees, these kids are sort of sitting in a corner. And so they can't even enjoy their childhood.

STEIN: And what if the sequencing reveals a child has genes that may make them prone to diseases that may not show up for decades and that they can't do anything about anyway? Benjamin Berkman of the National Institutes of Health says a lot of people just don't want to know that sort of thing.

BENJAMIN BERKMAN: Something like Alzheimer's or Huntington's, adults in large numbers choose not to know their status for those disorders. And so you could imagine a parent wanting to know whether or not their child is going to get Alzheimer's and then telling the child at some point. But then when the child is an adult, it's changed their life in a way that they wished they could have lived without that knowledge.

STEIN: Despite all this, there's talk about going back even earlier in life and sequencing fetuses in the womb.

(SOUNDBITE OF HEARTBEAT)

STEIN: Scientists in California and Washington State reported this summer that they had done this for the first time. Jay Shendure of the University of Washington says sequencing could help parents make important decisions.

DR. JAY SHENDURE: Parents could elect for termination of the pregnancy in connection with the diagnosis of a particular disease. In other circumstances, there may be opportunities for treatment of the fetus during the pregnancy, as well as for treatment immediately after birth and/or simply for both the physicians as well as the parents to be better prepared for caring for the child after the child is born.

STEIN: But this raises all the same worries as sequencing newborns - overwhelming parents with fuzzy but terrifying results, casting a dark shadow over the future. And when you're talking about doing this to a fetus in the womb, Benjamin Berkman says all that could have even graver consequences.

BERKMAN: Our worry is that parents are going to be faced with this deluge of genetic information about the potential health of their unborn child. Parents may let this anxiety and confusion affect their reproductive choices in ways that they would later regret.

STEIN: And there's more. Ronald Green of Dartmouth says this starts to raise even bigger issues - issues about parents trying to use sequencing to pick and choose babies who would grow up to be, say, good athletes or get top grades.

RONALD GREEN: Parents will take that information, that computer readout, maybe go home and say, I want this child or I don't want this child. A parent may decide, I want a child of lighter skin tone, I want a girl with blond hair and blue eyes, and this child doesn't have it, and so on and so on.

STEIN: Now, proponents of sequencing acknowledge there are legitimate worries. So experts like Allan Guttmacher say it's important to study the technology and air those concerns now.

GUTTMACHER: As with any new technology, we should try to use it to benefit people, but when it's not very clear what its exact impact's going to be, we should go slowly. We should study it.

STEIN: For her part, Christine Rowan - she's the mom we met earlier who brought her daughter in for genetic testing - she decided it was OK for doctors to look through Zoe's DNA for a gene associated with her sleep issues. But that's it. Christine and her husband didn't want doctors poking around much more than that.

ROWAN: I'm just not willing to go down that road and kind of open up what I would call a can of worms. I don't really want to create a sense of fear in myself or my daughter.

STEIN: It turned out Zoe doesn't have the sleep apnea gene or any other obvious genetic syndromes. She's doing better, on her own, though, and was able to go home a few weeks ago.

ROWAN: You know, I'm a firm believer we only have the grace for today. We don't have grace to deal with what might be down the road 10 years from now. I'll have the grace I need once I'm there. But right now I only have enough grace for today. Tomorrow has enough worries.

STEIN: So Christine and her husband don't know what else might be waiting in Zoe's DNA and that's fine with them. They're just focusing on caring for their new baby girl. Rob Stein, NPR News.

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