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.
How Scientists Are Engineering Plastic-Eating Bacteria to Fight the Pollution Crisis
[Ed. Note: This is the second episode in our Moonshot series, which will explore four cutting-edge scientific developments that stand to fundamentally transform our world.]
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.
A Futuristic Suicide Machine Aims to End the Stigma of Assisted Dying
Bob Dent ended his life in Perth, Australia in 1996 after multiple surgeries to treat terminal prostate cancer had left him mostly bedridden and in agony.
Although Dent and his immediate family believed it was the right thing to do, the physician who assisted in his suicide – and had pushed for Australia's Northern Territory to legalize the practice the prior year – was deeply shaken.
"You climb in, you are going somewhere, you are leaving, and you are saying goodbye."
"When you get to know someone pretty well, and they set a date to have lunch with you and then have them die at 2 p.m., it's hard to forget," recalls Philip Nitschke.
Nitschke remembers being highly anxious that the device he designed – which released a fatal dose of Nembutal into a patient's bloodstream after they answered a series of questions on a laptop computer to confirm consent – wouldn't work. He was so alarmed by the prospect he recalls his shirt being soaked through with perspiration.
Known as a "Deliverance Machine," it was comprised of the computer, attached by a sheet of wiring to an attache case containing an apparatus for delivering the Nembutal. Although gray, squat and grimly businesslike, it was vastly more sophisticated than Jack Kevorkian's Thanatron – a tangle of tubes, hooks and vials redolent of frontier dentistry.
The Deliverance Machine did work – for Dent and three other patients of Nitschke. However, it remained far from reassuring. "It's not a very comfortable feeling, having a little suitcase and going around to people," he says. "I felt a little like an executioner."
The furor caused in part by Nitschke's work led to Australia's federal government banning physician-assisted suicide in 1997. Nitschke went on to co-found Exit International, one of the foremost assisted suicide advocacy groups, and relocated to the Netherlands.
Exit International recently introduced its most ambitious initiative to date. It's called the Sarco — essentially the Eames lounger of suicide machines. A prototype is currently on display at Venice Design, an adjunct to the Biennale.
Sheathed in a soothing blue coating, the Sarco prototype contains a window and pivots on a pedestal to allow viewing by friends and family. Its close quarters means the opening of a small canister of liquid nitrogen would cause quick and painless asphyxiation. Patrons with second thoughts can press a button to cancel the process.
"The sleek and colorful death-pod looks like it is about to whisk you away to a new territory, or that it just landed after being launched from a Star Trek federation ship," says Charles C. Camosy, associate professor of theological and social ethics at Fordham University in New York City, in an email. Camosy, who has profound misgivings about such a device, was not being complimentary.
Nitschke's goal is to de-medicalize assisted suicide, as liquid nitrogen is readily available. But he suggests employing a futuristic design will also move debate on the issue forward.
"You pick the time...have the party and people come around. You climb in, you are going somewhere, you are leaving, and you are saying goodbye," he says. "It lends itself to a sense of occasion."
Assisted suicide is spreading in developed countries, but very slowly. It was legalized again in Australia just last June, but only in one of its six states. It is legal throughout Canada and in nine U.S. states.
Although the process is outlawed throughout much of Europe, nations permitting it have taken a liberal approach. Euthanasia — where death may be instigated by an assenting physician at a patient's request — is legal in both Belgium and the Netherlands. A terminal illness is not required; a severe disability or a condition causing profound misery may suffice.
Only Switzerland permits suicide with non-physician assistance regardless of an individual's medical condition. David Goodall, a 104-year Australian scientist, traveled 8,000 miles to Basel last year to die with Exit International's assistance. Goodall was in good health for his age and his mind was needle sharp; at a news conference the day before he passed, he thoughtfully answered questions and sang Beethoven's "Ode to Joy" from memory. He simply believed he had lived long enough and wanted to avoid a diminishing quality of life.
"Dying is not a medical process, and if you've decided to do this through rational [decision-making], you should not have to get permission from the medical profession," Nitschke says.
However, the deathstyle aspirations of the Sarco bely the fact obtaining one will not be as simple as swiping a credit card. To create a legal firewall, anyone wishing to obtain a Sarco would have to purchase the plans, print the device themselves — it requires a high-end industrial printer to do so — then assemble it. As with the Deliverance device, the end user must be able to answer computer-generated questions designed by a Swiss psychiatrist to determine if they are making a rational decision. The process concludes with the transmission of a four-digit code to make the Sarco operational.
As with many cutting-edge designs, the path to a working prototype has been nettlesome. Plans for a printed window have been abandoned. How it will be obtained by end users remains unclear. There have also been complications in creating an AI-based algorithm underlying the user questions to reliably determine if the individual is of sound mind.
While Nitschke believes the Sarco will be deployed in Switzerland for the first time sometime next year, it will almost certainly be a subject of immense controversy. The Hastings Center, one of the world's major bioethics organizations and a leader on end-of-life decision-making, flatly refused to comment on the Sarco.
Camosy strongly condemns it. He notes since U.S. life expectancy is actually shortening — with despair-driven suicide playing a role — efforts must be marshaled to mitigate the trend. To him, the Sarco sends an utterly wrong message.
"It is diabolical that we would create machines to make it easier for people to kill themselves."
"Most people who request help in killing themselves don't do so because they are in intense, unbearable pain," he observes. "They do it because the culture in which they live has made them feel like a burden. This culture has told them they only have value if they are able to be 'productive' and 'contribute to society.'" He adds that the large majority of disability activists have been against assisted suicide and euthanasia because it is imperative to their movement that a stigma remain in place.
"It is diabolical that we would create machines to make it easier for people to kill themselves," Camosy concludes. "And anyone with even a single progressive bone in their body should resist this disturbingly morbid profit-making venture with everything they have."