Is Finding Out Your Baby’s Genetics A New Responsibility of Parenting?
Hours after a baby is born, its heel is pricked with a lancet. Drops of the infant's blood are collected on a porous card, which is then mailed to a state laboratory. The dried blood spots are screened for around thirty conditions, including phenylketonuria (PKU), the metabolic disorder that kick-started this kind of newborn screening over 60 years ago. In the U.S., parents are not asked for permission to screen their child. Newborn screening programs are public health programs, and the assumption is that no good parent would refuse a screening test that could identify a serious yet treatable condition in their baby.
Learning as much as you can about your child's health might seem like a natural obligation of parenting. But it's an assumption that I think needs to be much more closely examined.
Today, with the introduction of genome sequencing into clinical medicine, some are asking whether newborn screening goes far enough. As the cost of sequencing falls, should parents take a more expansive look at their children's health, learning not just whether they have a rare but treatable childhood condition, but also whether they are at risk for untreatable conditions or for diseases that, if they occur at all, will strike only in adulthood? Should genome sequencing be a part of every newborn's care?
It's an idea that appeals to Anne Wojcicki, the founder and CEO of the direct-to-consumer genetic testing company 23andMe, who in a 2016 interview with The Guardian newspaper predicted that having newborns tested would soon be considered standard practice—"as critical as testing your cholesterol"—and a new responsibility of parenting. Wojcicki isn't the only one excited to see everyone's genes examined at birth. Francis Collins, director of the National Institutes of Health and perhaps the most prominent advocate of genomics in the United States, has written that he is "almost certain … that whole-genome sequencing will become part of new-born screening in the next few years." Whether that would happen through state-mandated screening programs, or as part of routine pediatric care—or perhaps as a direct-to-consumer service that parents purchase at birth or receive as a baby-shower gift—is not clear.
Learning as much as you can about your child's health might seem like a natural obligation of parenting. But it's an assumption that I think needs to be much more closely examined, both because the results that genome sequencing can return are more complex and more uncertain than one might expect, and because parents are not actually responsible for their child's lifelong health and well-being.
What is a parent supposed to do about such a risk except worry?
Existing newborn screening tests look for the presence of rare conditions that, if identified early in life, before the child shows any symptoms, can be effectively treated. Sequencing could identify many of these same kinds of conditions (and it might be a good tool if it could be targeted to those conditions alone), but it would also identify gene variants that confer an increased risk rather than a certainty of disease. Occasionally that increased risk will be significant. About 12 percent of women in the general population will develop breast cancer during their lives, while those who have a harmful BRCA1 or BRCA2 gene variant have around a 70 percent chance of developing the disease. But for many—perhaps most—conditions, the increased risk associated with a particular gene variant will be very small. Researchers have identified over 600 genes that appear to be associated with schizophrenia, for example, but any one of those confers only a tiny increase in risk for the disorder. What is a parent supposed to do about such a risk except worry?
Sequencing results are uncertain in other important ways as well. While we now have the ability to map the genome—to create a read-out of the pairs of genetic letters that make up a person's DNA—we are still learning what most of it means for a person's health and well-being. Researchers even have a name for gene variants they think might be associated with a disease or disorder, but for which they don't have enough evidence to be sure. They are called "variants of unknown (or uncertain) significance (VUS), and they pop up in most people's sequencing results. In cancer genetics, where much research has been done, about 1 in 5 gene variants are reclassified over time. Most are downgraded, which means that a good number of VUS are eventually designated benign.
While one parent might reasonably decide to learn about their child's risk for a condition about which nothing can be done medically, a different, yet still thoroughly reasonable, parent might prefer to remain ignorant so that they can enjoy the time before their child is afflicted.
Then there's the puzzle of what to do about results that show increased risk or even certainty for a condition that we have no idea how to prevent. Some genomics advocates argue that even if a result is not "medically actionable," it might have "personal utility" because it allows parents to plan for their child's future needs, to enroll them in research, or to connect with other families whose children carry the same genetic marker.
Finding a certain gene variant in one child might inform parents' decisions about whether to have another—and if they do, about whether to use reproductive technologies or prenatal testing to select against that variant in a future child. I have no doubt that for some parents these personal utility arguments are persuasive, but notice how far we've now strayed from the serious yet treatable conditions that motivated governments to set up newborn screening programs, and to mandate such testing for all.
Which brings me to the other problem with the call for sequencing newborn babies: the idea that even if it's not what the law requires, it's what good parents should do. That idea is very compelling when we're talking about sequencing results that show a serious threat to the child's health, especially when interventions are available to prevent or treat that condition. But as I have shown, many sequencing results are not of this type.
While one parent might reasonably decide to learn about their child's risk for a condition about which nothing can be done medically, a different, yet still thoroughly reasonable, parent might prefer to remain ignorant so that they can enjoy the time before their child is afflicted. This parent might decide that the worry—and the hypervigilence it could inspire in them—is not in their child's best interest, or indeed in their own. This parent might also think that it should be up to the child, when he or she is older, to decide whether to learn about his or her risk for adult-onset conditions, especially given that many adults at high familial risk for conditions like Alzheimer's or Huntington's disease choose never to be tested. This parent will value the child's future autonomy and right not to know more than they value the chance to prepare for a health risk that won't strike the child until 40 or 50 years in the future.
Parents are not obligated to learn about their children's risk for a condition that cannot be prevented, has a small risk of occurring, or that would appear only in adulthood.
Contemporary understandings of parenting are famously demanding. We are asked to do everything within our power to advance our children's health and well-being—to act always in our children's best interests. Against that backdrop, the need to sequence every newborn baby's genome might seem obvious. But we should be skeptical. Many sequencing results are complex and uncertain. Parents are not obligated to learn about their children's risk for a condition that cannot be prevented, has a small risk of occurring, or that would appear only in adulthood. To suggest otherwise is to stretch parental responsibilities beyond the realm of childhood and beyond factors that parents can control.
One of the World’s Most Famous Neuroscientists Wants You to Embrace Meditation and Spirituality
Neuroscientist, philosopher, and bestselling author Sam Harris is famous for many reasons, among them his vocal criticism of religion, his scientific approach to moral questions, and his willingness to tackle controversial topics on his popular podcast.
"Until you have some capacity to be mindful, you have no choice but to be lost in every next thought that arises."
He is also a passionate advocate of mindfulness meditation, having spent formative time as a young adult learning from teachers in India and Tibet before returning to the West.
Now his new app called Waking Up aims to teach the principles of meditation to anyone who is willing to slow down, turn away from everyday distractions, and pay attention to their own mind. Harris recently chatted with leapsmag about the science of mindfulness, the surprising way he discovered it, and the fundamental—but under-appreciated—reason to do it. This conversation has been lightly edited and condensed.
One of the biggest struggles that so many people face today is how to stay present in the moment. Is this the default state for human beings, or is this a more recent phenomenon brought on by our collective addiction to screens?
Sam: No, it certainly predates our technology. This is something that yogis have been talking about and struggling with for thousands of years. Just imagine you're on a beach on vacation where you vowed not to pick up your smart phone for 24 hours. You haven't looked at a screen, you're just enjoying the sound of the waves and the sunset, or trying to. What you're competing with there is this incessant white noise of discursive thinking. And that's something that follows you everywhere. It's something that people tend to only become truly sensitive to once they try to learn to meditate.
You've mentioned in one of your lessons that the more you train in mindful meditation, the more freedom you will have. What do you mean?
Sam: Well, until you have some capacity to be mindful, you have no choice but to be lost in every next thought that arises. You can't notice thought as thought, it just feels like you. So therefore, you're hostage to whatever the emotional or behavioral consequences of those thoughts are. If they're angry thoughts, you're angry. If they're desire thoughts, you're filled with desire. There is very little understanding in Western psychology around an alternative to that. And it's only by importing mindfulness into our thinking that we have begun to dimly see an alternative.
You've said that even if there were no demonstrable health benefits, it would still be valuable to meditate. Why?
Sam: Yeah, people are putting a lot of weight on the demonstrated health and efficiency benefits of mindfulness. I don't doubt that they exist, I think some of the research attesting to them is pretty thin, but it just may in fact be the case that meditation improves your immune system, and staves off dementia, or the thinning of the cortex as we age and many other benefits.
"What was Jesus talking about? Well, he certainly seemed to be talking about a state of mind that I first discovered on MDMA."
[But] it trivializes the real power of the practice. The power of the practice is to discover something fundamental about the nature of consciousness that can liberate you from psychological suffering in each moment that you can be aware of it. And that's a fairly esoteric goal and concern, it's an ancient one. It is something more than a narrow focus on physical health or even the ordinary expectations of well-being.
Yet many scientists in the West and intellectuals, like Richard Dawkins, are skeptical of it. Would you support a double-blind placebo-controlled study of meditation or does that miss the deeper point?
Sam: No, I see value in studying it any way we can. It's a little hard to pick a control condition that really makes sense. But yeah, that's research that I'm actually collaborating in now. There's a team just beginning a study of my app and we're having to pick a control condition. You can't do a true double-blind placebo control because meditation is not a pill, it's a practice. You know what you're being told to do. And if you're being told that you're in the control condition, you might be told to just keep a journal, say, of everything that happened to you yesterday.
One way to look at it is just to take people who haven't done any significant practice and to have them start and compare them to themselves over time using each person as his own control. But there are limitations with that as well. So, it's a little hard to study, but it's certainly not impossible.
And again, the purpose of meditation is not merely to reduce stress or to improve a person's health. And there are certain aspects to it which don't in any linear way reduce stress. You can have stressful experiences as you begin to learn to be mindful. You become more aware of your own neuroses certainly in the beginning, and you become more aware of your capacity to be petty and deceptive and self-deceptive. There are unflattering things to be realized about the character of your own mind. And the question is, "Is there a benefit ultimately to realizing those things?" I think there clearly is.
I'm curious about your background. You left Stanford to practice meditation after an experience with the drug MDMA. How did that lead you to meditation?
Sam: The experience there was that I had a feeling -- what I would consider unconditional love -- for the first time. Whether I ever had the concept of unconditional love in my head at that point, I don't know, I was 18 and not at all religious. But it was an experience that certainly made sense of the kind of language you find in many spiritual traditions, not just what it's like to be fully actualized by those, by, let's say, Christian values. Like, what was Jesus talking about? Well, he certainly seemed to be talking about a state of mind that I first discovered on MDMA. So that led me to religious literature, spiritual or new age literature, and Eastern philosophy.
Looking to make sense of this and put into a larger context that wasn't just synonymous with taking drugs, it was a sketching a path of practice and growth that could lead further across this landscape of mind, which I just had no idea existed. I basically thought you have whatever mind you have, and the prospect of having a radically different experience of consciousness, that would just be a fool's errand, and anyone who claimed to have such an experience would probably be lying.
As you probably know, there's a resurgence of research in psychedelics now, which again I also fully support, and I've had many useful experiences since that first one, on LSD and psilocybin. I don't tend to take those drugs now; it's been many years since I've done anything significant in that area, but the utility is that they work for everyone, more or less, which is to say that they prove beyond any doubt to everyone that it's possible to have a very different experience of consciousness moment to moment. Now, you can have scary experiences on some of these drugs, and I don't recommend them for everybody, but the one thing you can't have is the experience of boredom. [chuckle]
Very true. Going back to your experiences, you've done silent meditation for 18 hours a day with monks abroad. Do you think that kind of immersive commitment is an ideal goal, or is there a point where too much meditation is counter-productive to a full life?
Sam: I think all of those possibilities are true, depending on the person. There are people who can't figure out how to live a satisfying life in the world, and they retreat as a way of trying to untie the knot of their unhappiness directly through practice.
But the flip side is also true, that in order to really learn this skill deeply, most people need some kind of full immersion experience, at least at some point, to break through to a level of familiarity with it that would be very hard to get for most people practicing for 10 minutes a day, or an hour a day. But ultimately, I think it is a matter of practicing for short periods, frequently, more than it's a matter of long hours in one's daily life. If you could practice for one minute, 100 times a day, that would be an extraordinarily positive way to punctuate your habitual distraction. And I think probably better than 100 minutes all in one go first thing in the morning.
"It's amazing to me to walk into a classroom where you see 15 or 20 six-year-olds sitting in silence for 10 or 15 minutes."
What's your daily meditation practice like today? How does it fit into your routine?
Sam: It's super variable. There are days where I don't find any time to practice formally, there are days where it's very brief, and there are days where I'll set aside a half hour. I have young kids who I don't feel like leaving to go on retreat just yet, but I'm sure retreat will be a part of my future as well. It's definitely useful to just drop everything and give yourself permission to not think about anything for a certain period. And you're left with this extraordinarily vivid confrontation with your default state, which is your thoughts are incessantly appearing and capturing your attention and deluding you.
Every time you're lost in thought, you're very likely telling yourself a story for the 15th time that you don't even have the decency to find boring, right? Just imagine what it would sound like if you could broadcast your thoughts on a loud speaker, it would be mortifying. These are desperately boring, repetitive rehearsals of past conversations and anxieties about the future and meaningless judgments and observations. And in each moment that we don't notice a thought as a thought, we are deluded about what has happened. It's created this feeling of self that is a misconstrual of what consciousness is actually like, and it's created in most cases a kind of emotional emergency, which is our lives and all of the things we're worrying about. But our worry adds absolutely nothing to our capacity to deal with the problems when they actually arise.
Right. You mentioned you're a parent of a young kid, and so am I. Is there anything we as parents can do to encourage a mindfulness habit when our kids are young?
Sam: Actually, we just added meditations for kids in the app. My wife, Annaka, teaches meditation to kids as young as five in school. And they can absolutely learn to be mindful, even at that age. And it's amazing to me to walk into a classroom where you see 15 or 20 six-year-olds sitting in silence for 10 or 15 minutes, it's just amazing. And that's not what happens on the first day, but after five or six classes that is what happens. For a six-year-old to become aware of their emotional life in a clear way and to recognize that he was sad, or angry…that's a kind of super power. And it becomes a basis of any further capacity to regulate emotion and behavior.
It can be something that they're explicitly taught early and it can be something that they get modeled by us. They can know that we practice. You can just sit with your kid when your kid is playing. Just a few minutes goes a long way. You model this behavior and punctuate your own distraction for a short period of time, and it can be incredibly positive.
Lastly, a bonus question that is definitely tongue-in-cheek. Who would win in a fight, you or Ben Affleck?
Sam: That's funny. That question was almost resolved in the green room after that encounter. That was an unpleasant meeting…I spend some amount of time training in the martial arts. This is one area where knowledge does count for a lot, but I don't think we'll have to resolve that uncertainty any time soon. We're both getting old.
Kira Peikoff was the editor-in-chief of Leaps.org from 2017 to 2021. As a journalist, her work has appeared in The New York Times, Newsweek, Nautilus, Popular Mechanics, The New York Academy of Sciences, and other outlets. She is also the author of four suspense novels that explore controversial issues arising from scientific innovation: Living Proof, No Time to Die, Die Again Tomorrow, and Mother Knows Best. Peikoff holds a B.A. in Journalism from New York University and an M.S. in Bioethics from Columbia University. She lives in New Jersey with her husband and two young sons. Follow her on Twitter @KiraPeikoff.
[Editor's Note: This is the final video of a five-part series titled "The Future Is Now: The Revolutionary Power of Stem Cell Research." Produced in partnership with the Regenerative Medicine Foundation, and filmed at the annual 2019 World Stem Cell Summit, this series illustrates how stem cell research will profoundly impact human life.]
Kira Peikoff was the editor-in-chief of Leaps.org from 2017 to 2021. As a journalist, her work has appeared in The New York Times, Newsweek, Nautilus, Popular Mechanics, The New York Academy of Sciences, and other outlets. She is also the author of four suspense novels that explore controversial issues arising from scientific innovation: Living Proof, No Time to Die, Die Again Tomorrow, and Mother Knows Best. Peikoff holds a B.A. in Journalism from New York University and an M.S. in Bioethics from Columbia University. She lives in New Jersey with her husband and two young sons. Follow her on Twitter @KiraPeikoff.