Would You Want Your Baby Tested for Incurable Diseases?

You probably know at least something about your risks of developing certain health problems. Maybe your grandmother had breast cancer, or your dad has Parkinson's. Your knowledge is like a blurry black-and-white photo at best: You have a vague idea about what you could develop later in life, but you don't know all the details. But what if your knowledge was more like a full-color photo in slightly better focus? Doctors are trying to learn if having this information is useful in the long run by genetically screening newborn babies for about 1,800 genetic disorders and following up with the families for several years.

It's part of a randomized control trial called The BabySeq Project—pronounced Baby Seek, a nod to the genome sequencing at its core—that's being carried out at both Brigham and Women's Hospital and Boston Children's Hospital. The National Institutes of Health is funding the trial. The genetic screening gives parents a clear picture of what conditions their baby is at risk of developing in life, even if they have no symptoms at the time.

Every baby born in the US today gets a state-mandated heel stick blood test that screens for about 30 treatable conditions including sickle cell anemia and cystic fibrosis. But with this new screening, parents have a broader portfolio of their baby's health. That can be empowering, but it can also be an information overload, since most of the conditions the test screens for are incurable.

"We don't have treatments for 1,800 things—we have treatments for a handful of things," says Alan Beggs, one of the study's two lead investigators and a professor of pediatrics at Harvard Medical School. "We're trying to figure out how much of a potential problem this is. On balance, are more people helped and more lives saved because they get the information, or are people losing a lot of sleep because they're worried about things that might happen, that turn out not to happen?"

Before the trial launched, the researchers asked parents of newborns in these two hospitals if they'd be interested in genome screening for their babies if it was being offered as part of a study. Eighty-three percent of the families said yes to a certain degree: 36 percent were somewhat interested, 28 percent were very interested, and 18 percent were extremely interested. "Some people are information-seekers," Beggs says.

That description applies to Lauren and Kyle Stetson, who joined the trial and were randomly placed in the testing group (half of the study participants are placed in the control group, and their newborns don't get screened). Their results showed that their daughter, Cora, had a genetic variant which increased her risk of developing a partial biotinidase deficiency, a disorder that, in extreme cases, can cause hearing and vision loss, skin rashes, and even a drop in IQ. Now, Cora takes a vitamin in her yogurt every day to reduce her risks. "I always think that more knowledge is power," Lauren Stetson told CBS News. "And so anyone who is wavering, I think even though the results may be scary, I think it's more scary to play the guessing game."

"This is of course in line with the direction we all hope medicine is going, the direction where instead of treating sick people, we are anticipating disease and preventing it," says co-lead investigator Robert Green, a geneticist at Brigham and Women's Hospital.

But both he and Beggs are well aware of the controversy surrounding this kind of testing. Being too aware of risks that could amount to nothing could lead to potentially unnecessary stress and preventive treatments. Besides that, people are mostly concerned about privacy and discrimination, Beggs says. The parents are the ones consenting to these tests, not the babies—so when those babies turn 18, they might not want all this information out there, especially in the case of a data breach. The genetic data collected in the study is being stored in an academic lab, and parents also give consent to have it uploaded to a federal database for future research.

Even though about nine in ten families approached about joining the trial say no, that doesn't reflect the actual interest, Beggs says. Both hospitals involved in the study are research hospitals, so assistants often ask patients if they're interested in being part of a research study without any context. Because hospitals are stressful and patients often have other things on their minds, most say no before hearing any more details. Once parents say yes and learn more about the BabySeq study, it's really only about 25 percent who have issues with participating, he adds. In total, they hope to enroll 240 healthy newborns from Brigham & Women's Hospital and 240 newborns from the neonatal intensive care unit at Boston Children's Hospital.

The Genetic Information Nondiscrimination Act (GINA) of 2008 does protect people in some ways—for example, the law states that health insurance companies can't withhold coverage based on someone's genetic makeup. But it says nothing about life insurance. "It's possible that 30 years from now, when they go to apply for life insurance, there could be some negative consequences if that information got out there and if society didn't have some safeguards in place," Beggs says.

It might seem early to think about a newborn looking for a life insurance policy. But it makes sense for the parents to take this long-term approach, especially in today's political climate. "With some of the instability that we're seeing in the approach to healthcare in Congress, it's still very uncertain what's going to be there in the safety net by the time their children are adults," Green says.

It's just one part of a much larger shift in the medical community. We're slowly moving away from treating illnesses and toward predicting and preventing them. "It's going to be tough, because our healthcare system is really a sickcare system," Green says. "The challenge is, how do we steadily move this toward predicting and preventing an illness? That's the course that many people think we have to go."

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