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.
Tiny, Injectable Robots Could Be the Future of Brain Treatments
In the 1966 movie "Fantastic Voyage," actress Raquel Welch and her submarine were shrunk to the size of a cell in order to eliminate a blood clot in a scientist's brain. Now, 55 years later, the scenario is becoming closer to reality.
California-based startup Bionaut Labs has developed a nanobot about the size of a grain of rice that's designed to transport medication to the exact location in the body where it's needed. If you think about it, the conventional way to deliver medicine makes little sense: A painkiller affects the entire body instead of just the arm that's hurting, and chemotherapy is flushed through all the veins instead of precisely targeting the tumor.
"Chemotherapy is delivered systemically," Bionaut-founder and CEO Michael Shpigelmacher says. "Often only a small percentage arrives at the location where it is actually needed."
But what if it was possible to send a tiny robot through the body to attack a tumor or deliver a drug at exactly the right location?
Several startups and academic institutes worldwide are working to develop such a solution but Bionaut Labs seems the furthest along in advancing its invention. "You can think of the Bionaut as a tiny screw that moves through the veins as if steered by an invisible screwdriver until it arrives at the tumor," Shpigelmacher explains. Via Zoom, he shares the screen of an X-ray machine in his Culver City lab to demonstrate how the half-transparent, yellowish device winds its way along the spine in the body. The nanobot contains a tiny but powerful magnet. The "invisible screwdriver" is an external magnetic field that rotates that magnet inside the device and gets it to move and change directions.
The current model has a diameter of less than a millimeter. Shpigelmacher's engineers could build the miniature vehicle even smaller but the current size has the advantage of being big enough to see with bare eyes. It can also deliver more medicine than a tinier version. In the Zoom demonstration, the micorobot is injected into the spine, not unlike an epidural, and pulled along the spine through an outside magnet until the Bionaut reaches the brainstem. Depending which organ it needs to reach, it could be inserted elsewhere, for instance through a catheter.
"The hope is that we can develop a vehicle to transport medication deep into the body."
Imagine moving a screw through a steak with a magnet — that's essentially how the device works. But of course, the Bionaut is considerably different from an ordinary screw: "At the right location, we give a magnetic signal, and it unloads its medicine package," Shpigelmacher says.
To start, Bionaut Labs wants to use its device to treat Parkinson's disease and brain stem gliomas, a type of cancer that largely affects children and teenagers. About 300 to 400 young people a year are diagnosed with this type of tumor. Radiation and brain surgery risk damaging sensitive brain tissue, and chemotherapy often doesn't work. Most children with these tumors live less than 18 months. A nanobot delivering targeted chemotherapy could be a gamechanger. "These patients really don't have any other hope," Shpigelmacher says.
Of course, the main challenge of the developing such a device is guaranteeing that it's safe. Because tissue is so sensitive, any mistake could risk disastrous results. Over the past four years, Bionaut has tested its technology in dozens of healthy sheep and pigs with no major adverse effects. Sheep make a good stand-in for humans because their brains and spines are similar to ours.
The Bionaut device is about the size of a grain of rice.
Bionaut Labs
"As the Bionaut moves through brain tissue, it creates a transient track that heals within a few weeks," Shpigelmacher says. The company is hoping to be the first to test a nanobot in humans. That could happen as early as 2023, Shpigelmacher says.
Once the technique has been perfected, further applications could include addressing other kinds of brain disorders that are considered incurable now, such as Alzheimer's or Huntington's disease. "Microrobots could serve as a bridgehead, opening the gateway to the brain and facilitating precise access of deep brain structure – either to deliver medication, take cell samples or stimulate specific brain regions," Shpigelmacher says.
Robot-assisted hybrid surgery with artificial intelligence is already used in state-of-the-art surgery centers, and many medical experts believe that nanorobotics will be the instrument of the future. In 2016, three scientists were awarded the Nobel Prize in Chemistry for their development of "the world's smallest machines," nano "elevators" and minuscule motors. Since then, the scientific experiments have progressed to the point where applicable devices are moving closer to actually being implemented.
Bionaut's technology was initially developed by a research team lead by Peer Fischer, head of the independent Micro Nano and Molecular Systems Lab at the Max Planck Institute for Intelligent Systems in Stuttgart, Germany. Fischer is considered a pioneer in the research of nano systems, which he began at Harvard University more than a decade ago. He and his team are advising Bionaut Labs and have licensed their technology to the company.
"The hope is that we can develop a vehicle to transport medication deep into the body," says Max Planck scientist Tian Qiu, who leads the cooperation with Bionaut Labs. He agrees with Shpigelmacher that the Bionaut's size is perfect for transporting medication loads and is researching potential applications for even smaller nanorobots, especially in the eye, where the tissue is extremely sensitive. "Nanorobots can sneak through very fine tissue without causing damage."
In "Fantastic Voyage," Raquel Welch's adventures inside the body of a dissident scientist let her swim through his veins into his brain, but her shrunken miniature submarine is attacked by antibodies; she has to flee through the nerves into the scientist's eye where she escapes into freedom on a tear drop. In reality, the exit in the lab is much more mundane. The Bionaut simply leaves the body through the same port where it entered. But apart from the dramatization, the "Fantastic Voyage" was almost prophetic, or, as Shpigelmacher says, "Science fiction becomes science reality."
Every weekend since January, pediatrician Cora Collette Breuner has volunteered to give the COVID-19 vaccine to individuals from age 12 to 96 in an underserved community in Washington state.
Even though the COVID-19 vaccines have been shown to be incredibly safe and effective, there's still quite a bit of hesitancy among parents to vaccinate their teenage children, says Breuner, an adolescent medicine specialist at Seattle Children's Hospital and a past chair of the American Academy of Pediatrics' Committee on Adolescence. "They have questions and they have questions," she says.
Breuner patiently answers them all. Even then, parents—who have the final say in whether their child gets the vaccine—may be reluctant to sign off on it.
In 41 states, parents must consent for minors under age 18 to receive a COVID-19 vaccine. One state—Nebraska—requires parental consent for individuals under age 19, according to the Kaiser Family Foundation. Healthcare workers can't legally give teens COVID-19 vaccines otherwise. In a May report, the nonprofit healthcare organization highlights that from a legal perspective, "the landscape may be shifting slightly as more jurisdictions seek to encourage vaccination of young people."
Meanwhile, as the Delta variant creates a new surge in cases, some ethicists and pediatricians argue that state laws should be amended or loosened to allow minors to consent to COVID-19 vaccination on their own, without the need for parental permission.
"COVID-19 has killed millions of people around the world and disrupted the global economy," says pediatrician John Lantos. "It's a global catastrophe that requires special rules."
There are compelling arguments in favor of letting minors consent on their own, says Robyn Shapiro, a health care lawyer and a bioethicist in the Milwaukee area. "By that, I mean they're either old enough or they're evaluated in such a way that they have sufficient understanding of what they're agreeing to."
Shapiro and other ethicists argue that teens are perfectly capable of giving "informed consent"—a key principle in ethics that means fully understanding the benefits and risks of a medical intervention. To give informed consent, a person must be able to process that information in line with their own values. Only then can they make an autonomous choice and sign a consent form, Shapiro says.
Most states already have laws permitting minors to consent to testing and treatments related to sexually transmitted diseases, birth control, behavioral health, and substance abuse. It wouldn't be that much of a stretch to add COVID-19 vaccination to the list, Shapiro says. New Jersey and New York have introduced bills to let teens as young as 14 to consent to getting the COVID-19 vaccine and Minnesota has proposed a bill to allow children as young as 12 to give consent.
With any medical test or intervention, doctors often wrestle with how to best involve teens in conversations about their own health care, says John Lantos, a pediatrician and director of the Bioethics Center at Children's Mercy Kansas City.
"Most bioethicists would say that [teens] should be included to the degree that they have decision-making capacity," he says. "In most cases, that means including them in discussions with their parents in trying to achieve consensus about what the best choice may be."
COVID-19 vaccination also presents a unique circumstance, Lantos notes. It raises the question: Should teens have greater decisional authority because it's a public health emergency? In his opinion, the answer is yes. "COVID-19 has killed millions of people around the world and disrupted the global economy," says pediatrician Lantos. "It's a global catastrophe that requires special rules."
In North Carolina, state legislators are moving to do the opposite. State law currently allows those under 18 to make vaccination decisions on their own, but on Aug. 5, North Carolina's General Assembly approved a Republican-sponsored bill requiring parental consent for 12- to 17-year-olds to get a COVID-19 vaccine.
Kyle Brothers, a pediatrician in Louisville, Kentucky, says it's "ethically justifiable" for states to permit adolescents, especially those on the verge of adulthood, to consent to COVID-19 vaccination and other straightforward medical care.
In many cases, 16- and 17-year-old adolescents are capable of making well-informed decisions, says Brothers, a member of the American Academy of Pediatrics' Section on Bioethics. "The problem is, the law tends not to have that level of nuance," he adds. "We know in the real world that maturing and developing the ability to make decisions is a continuous process, but the law sets a bright line at age 18."
Lacking parental consent, some defiant teens are researching avenues to get vaccinated without their mom's or dad's knowledge. They may have turned to VaxTeen.org, a site operated by a Los Angeles teenager that provides information on consent laws by state.
If parents are wavering on the decision to give consent, Breuner recommends that they speak with a trusted healthcare provider about their specific concerns. These kinds of dialogues often can clarify lingering worries and may help drive up consent rates for teen vaccination.
Vaccine-hesitant parents should hear out their teens who wish to be vaccinated. Teenagers have their own opinions and belief systems, and parents should respect their child's choice to be vaccinated if they wish, considering the minimal risk of harm and the significant benefit to society as a whole.
George J. Annas, professor and director at the Center for Health Law, Ethics & Human Rights at Boston University, says parents have a legal obligation to provide their children with necessary medical treatment, or they could be found guilty of child neglect. The circumstances vary, but in the face of unrelenting COVID-19, he says parents have an ethical duty to consent to teens' vaccination because "the disease is rampant and children are dying."