ARI SHAPIRO, HOST:
At a hospital in Boston, doctors are giving new parents an unusual opportunity. It's controversial and scary, and it could save lives. If parents choose, doctors will sequence part of a newborn baby's genome and tell the parents whether the child may get certain medical conditions. Today on MORNING EDITION, we heard from the man leading the study, Dr. Robert Green.
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ROBERT GREEN: We're very clear with parents about the fact they might get unpleasant information. They might get information that they didn't expect. They might get information that's really hard to interpret, that's quite confusing. They might get information that could theoretically be used against their child in the future.
AUDIE CORNISH, HOST:
Let's hear now from a family that agreed to the genetic sequencing and got some unexpected news. Mary Harris from member station WNYC has this report.
KAI GRACIA: (Laughter).
MARY HARRIS, BYLINE: Kai Gracia is nine months old and just about the happiest baby you'll meet.
ALYSSA GRACIA: It's hard to get in there with that big mouth.
HARRIS: Kai's mom Alyssa says she's pretty Type A. She likes to prepare. Her husband, Jason, is a football coach and a phys ed teacher. Health is important to them. So when they got a chance to sequence Kai's genome, they jumped.
A. GRACIA: 'Cause I just thought it was going to be cool to get some info. You know, like, how interesting is it to have this technology that can give us some insight into our building blocks. But...
HARRIS: When they got their results...
A. GRACIA: Yeah, it was definitely a sombering moment.
HARRIS: They learned Kai, who looks so healthy, actually has a congenital heart defect, something they never would have known about otherwise.
A. GRACIA: You see supravalvular aortic stenosis, and you're like, OK, I have no idea what that means. But it's heart related, so, oh, my goodness, what does this mean?
HARRIS: Kai has a mutation in a gene that codes for a protein called elastin. Elastin helps heart muscles bend and stretch. Not producing enough of it can cause the aorta to narrow. People can die from that or need multiple surgeries as they grow. And there was something else. Kai had inherited the gene.
A. GRACIA: And then in the middle of it, I'm like, holy crap, so where did he get this from? Like, is it from me? Is it from Jay? Like, how do we know this?
HARRIS: The gene came from Kai's father, Jason. He didn't even know he had it. Both of them looked totally healthy, but once they got these results, Alyssa started to worry. She knew that physical stress could be bad for kids like Kai. So she had questions, like, could crying too much be dangerous?
A. GRACIA: I just want the bottom line. Like, what am I looking at here? Can my kid not play sports? Do we need surgery in two years? You know, and how do we treat this?
HARRIS: She started calling pediatric cardiologists and saying we need to see you right away. She got appointments with two of them.
A. GRACIA: It was interesting because when you walk in, they kind of say, what brings you in? And when you put, like, a genetic report, sometimes I think we get some looks like, oh, well, like, what? So you don't have any symptoms? Like, what's wrong?
HARRIS: The doctors had never seen a report like this. Usually a condition like Kai's isn't diagnosed until something's gone wrong.
A. GRACIA: And they basically said, like, there's no specific method or a way that we know how to treat this because it's not presenting itself yet.
HARRIS: One doctor said Kai looks fine. Bring him back in two or three years. Another said, I want to see him back here in three months.
GREEN: This is the kind of thing that both thrills and terrifies the observers of this new technology, and it's all there in that story.
HARRIS: Dr. Robert Green is one of the physicians analyzing all these babies' genomes, including Kai's.
GREEN: Number one, there is no consensus on how to manage these findings. Number two, money is being spent within the system to follow up on them, and it's quite unclear whether that's money well spent. Number three, it probably won't happen in this particular situation, but there's possibilities for certain types of follow-up that you might actually do harm.
HARRIS: And remember; all that follow-up - it's being done not just on Kai but on his dad and his grandmother, all people who might be carrying this gene and might be at risk themselves because a gene isn't just about one person. It's about a whole family. And there are a couple of ways to see that. A pessimist might say all this extra information and screening could be a big waste, but Green sees something else.
GREEN: With one entree into the family, we can sometimes discover a tendency that could be life-saving.
HARRIS: Take another baby Green sequenced.
GREEN: We found a pathogenic mutation in the BRCA2 gene, which is associated with breast and ovarian cancer in adults.
HARRIS: So when you found that, you knew not only about the baby's risk but about one of the baby's parents.
GREEN: That's exactly right, and that suddenly thrust us into a really pernicious ethical problem.
HARRIS: The gene had been inherited from the baby's mother.
So all of the sudden you know the mother is carrying a gene that puts her at much higher risk of breast cancer. I imagine you really want to tell her.
GREEN: We really do, but our protocol doesn't allow us to do so.
HARRIS: The problem was this. Green and his colleagues had agreed that only tell parents about genetic variants that would impact these babies in childhood because the babies weren't able to decide for themselves whether they wanted to know their genetic futures. But Green thought this information was so important, he decided to break protocol.
GREEN: And the disclosure was made that the mother was carrying a BRCA2 mutation, and there had been no obvious cancer in the family. But you know what the first four words were out of the mother's mouth when she was told - not, oh, my God but, oh, that explains it.
HARRIS: It turned out the mother knew about distant relatives who died from cancer, but she hadn't really thought it meant anything for her. Without her baby's test, she might have never learned about her own risk.
GREEN: Let's be clear here. This is scary news. But for those who do learn that they are carrying this mutation, there are actual actions that they can take to reduce their risk of developing cancer and to reduce their risk of dying from cancer.
HARRIS: Not every mutation is like this, and Green says that for now, there's a certain kind of person who will want this data - people who find more information empowering, people like Kai's parents.
A. GRACIA: Oh.
HARRIS: Alyssa and Jason are still watching and waiting to figure out whether Kai will stay healthy. I asked Kai's dad if he had any regrets after getting their test results.
JASON GRACIA: No. I mean it was definitely a buzzkill.
(LAUGHTER)
J. GRACIA: But no, I think the biggest regret would have been had something happened down the line and we went to a doctor and then realized that that could have been found out in the genetic testing that we turned down by being naive. That would have been stupid, you know, very foolish - so no, no regret.
HARRIS: Do you even consider it bad news?
A. GRACIA: I don't think it's bad. I think it's just news.
HARRIS: Alyssa said she actually thinks knowing about Kai's risk is good news. And she and Jason have recommended this test to their pregnant friends, but they're not sure if any of them have decided to go through with it. For NPR News, I'm Mary Harris in Boston.
SHAPIRO: Mary Harris is host of WNYC's Only Human podcast. Transcript provided by NPR, Copyright NPR.