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.
Vaccines Without Vaccinations Won’t End the Pandemic
COVID-19 vaccine development has advanced at a record-setting pace, thanks to our nation's longstanding support for basic vaccine science coupled with massive public and private sector investments.
Yet, policymakers aren't according anywhere near the same level of priority to investments in the social, behavioral, and data science needed to better understand who and what influences vaccination decision-making. "If we want to be sure vaccines become vaccinations, this is exactly the kind of work that's urgently needed," says Dr. Bruce Gellin, President of Global Immunization at the Sabin Vaccine Institute.
Simply put: it's possible vaccines will remain in refrigerators and not be delivered to the arms of rolled-up sleeves if we don't quickly ramp up vaccine confidence research and broadly disseminate the findings.
According to the most recent Gallup poll, the share of U.S. adults who say they would get a COVID-19 vaccine rose to 58 percent this month from 50 percent in September, with non-white Americans and those ages 45-65 even less willing to be vaccinated. While there is still much we don't understand about COVID-19, we do know that without high levels of immunity in the population, a return to some semblance of normalcy is wishful thinking.
Research from prior vaccination campaigns such as H1N1, HPV, and the annual flu points us in the right direction. Key components of successful vaccination efforts require 1) Identifying the concerns of particular segments of the population; 2) Tailoring messages and incentives to address those concerns, and 3) Reaching out through trusted sources – health care providers, public health departments, and others in the community.
Research during the H1N1 flu found preparing people for some uncertainty actually improved trust, according to Dr. Sandra Crouse Quinn, professor and chair, Family Science, University of Maryland. Dr. Crouse Quinn's research during that period also underscored the need to address the specific vaccine concerns of racial and ethnic groups.
The stunning scientific achievement of COVID-19 vaccines anticipated to be ready in record time needs to be backed up by an equally ambitious and evidence-based effort to build the public's confidence in the vaccines.
Data science has provided crucial insight about the social media universe. Dr. Neil Johnson, a scientist at George Washington University, found that despite having fewer followers, anti-vaccination pages are more numerous and growing faster than pro-vaccination pages. They are more often linked to in discussions on other Facebook pages – such as school parent associations – where people are undecided about vaccination.
We've learned about building vaccine confidence from earlier campaigns. Now, however, we are faced with a unique and challenging set of obstacles to unpack quickly: How do we communicate the importance of eventual COVID-19 vaccines to Americans in light of the muddled-to-poor messaging from political leaders, the weaponizing of relatively simple public health recommendations, the enormous disproportionate toll on people of color, and the torrent of online misinformation? We urgently need data reflective of today's circumstances along with the policy to ensure it is quickly and effectively disseminated to the public health and clinical workforce.
Last year prompted in part by the measles outbreaks, Reps. Michael C. Burgess (R-TX) and Kim Shrier (D-WA), both physicians, introduced the bipartisan Vaccines Act to develop a national surveillance system to monitor vaccination rates and conduct a national campaign to increase awareness of the importance of vaccines. Unfortunately, that legislation wasn't passed. In response to COVID-19, Senate HELP Committee Ranking member Patty Murray (D-WA) has sought funds to strengthen vaccine confidence and combat misinformation with federally supported communication, research, and outreach efforts. Leading experts outside of Congress have called for this type of research, including the Sabin-Aspen Vaccine Science Policy Institute. Most recently, the National Academy of Sciences, in its report regarding the equitable distribution of the COVID-19 vaccine, included as one of its recommendations the need for "a rapid-response program to advance the science behind vaccine confidence."
Addressing trust in vaccination has never been as challenging nor as consequential. The stunning scientific achievement of COVID-19 vaccines anticipated to be ready in record time needs to be backed up by an equally ambitious and evidence-based effort to build the public's confidence in the vaccines. In its remaining days, the Trump Administration should invest in building vaccine confidence with current resources, targeting efforts to ensure COVID vaccines reduce rather than exacerbate racial and ethnic health disparities. Congress must also act to provide the additional research and outreach resources needed as well as pass the Vaccines Act so we are better prepared in the future.
If we don't succeed, COVID-19 will continue wreaking havoc on our health, our society, and our economy. We will also permanently jeopardize public trust in vaccines – one of the most successful medical interventions in human history.
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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.