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.
Democratize the White Coat by Honoring Black, Indigenous, and People of Color in Science
This article is part of the magazine, "The Future of Science In America: The Election Issue," co-published by LeapsMag, the Aspen Institute Science & Society Program, and GOOD.
Journalists, educators, and curators have responded to Black Lives Matter by highlighting the history and achievements of Black Americans in a variety of fields, including science. The movement has also sparked important demands to address longstanding scientific inequities such as lack of access to quality healthcare and the disproportionate impact of climate change and environmental pollution on neighborhoods of Black, Indigenous, and people of color (BIPOC). Making such improvements requires bringing BIPOC into science and into positions of leadership in laboratories, graduate schools, medical practices, and clinical trials. The moment is right to challenge scientific gatekeepers to respond to Black Lives Matter by widening the pathways that determine who becomes a scientist, a researcher, or a clinician.
The scientific workforce has long lacked diversity, which in turn discourages Black people from pursuing such careers. Causes include a dearth of mentors and role models, preconceived notions that science is exclusive to white males, and subpar STEM education. Across race, gender, class, ability, and all other dimensions that inform how an individual navigates the world, from the familial to the global level, seeing role models who resemble you impacts what you strive for and believe possible. As Marian Wright Edelman stated, "You can't be what you can't see"—a truth with ever-increasing resonance since the U.S. is projected to be minority-white by 2045.
Black Americans have paved the way for the nation to lead in science and technology, despite marginalization and exclusion from textbooks. Physicist Dr. Shirley Ann Jackson invented the technology behind Caller I.D. and Call Waiting. Otis Boykin's patents made televisions and radios what they are today. Thanks to the 2017 movie Hidden Figures, millions of Americans know about Katherine Johnson, the NASA mathematician whose calculations were essential to the successful trajectory of the Apollo 11 mission.
However, highlighting past role models who were Black achievers is not enough and paints too static a picture—especially when examples of transformative work by contemporary BIPOC scientists serving BIPOC communities abound. Cognitive neuroscientist Dr. Jonathan Jackson founded the Community Access, Recruitment, & Engagement (CARE) Research Center with the goal to break down barriers so that people of color participate in clinical trials. Geneticist Dr. Nanibaa' Garrison's research creates ethical frameworks to overcome genomic injustices so Indigenous populations can benefit from genetic research. Computer scientists Joy Buolamwini and Dr. Timnit Gebru's research drew attention to reinforced racial bias in artificial intelligence, leading Microsoft, Amazon, and IBM this summer to halt use of their facial recognition software.
"Integration does not mean equality if the space being integrated isn't exuberantly down for the cause."
In order to honor concretely the ubiquitous public statements and commitments to justice and equity that flooded everyone's inboxes in early June, we must include traditionally underrepresented voices in all phases of science and its applications. For guidance, we would benefit from listening to activists leading, for example, climate marches and protests over toxic water. Indeed, science is at the core of the issues for which young BIPOC are mobilizing. We need to sit down with these individuals to gain their input on how the narratives, practices, and opportunities in science should change. As Zeena Abdulkarim, a youth climate change organizer working with Zero Hour, explains: "Minority communities are exposed to what the privileged and people in power are not; therefore these communities know the right steps to take in the change we need for the kickstart of true social and environmental justice."
Two other Black youth, for example, used the platform of the laboratory while in high school to mobilize for change. Elle Lanair Lett, now specializing in epidemiology as an M.D.-Ph.D. student in Philadelphia, was prompted by family prevalence of diabetes to research the genetics of pancreatic cells. Dr. Otana Jakpor, now an ophthalmology resident in Michigan, was motivated by the pollution in her hometown of Riverside, California, to research the pulmonary effects of indoor air purifiers, with findings that influenced California ozone regulations. Both became finalists in a national science fair, propelling them on paths toward science careers. These young scientists demonstrate how people's communities and lived experiences can shape trajectories of science research, which, in turn, determines which visions for society are materialized and popularized.
We can also gain insight from another childhood science fair veteran, self-proclaimed "Black STEMinist" Augusta Uwamanzu-Nna, who graduated from college in May and works as a bioengineer. In her view, "we need to shift the burden away from Black people and onto individuals who have contributed to our current reality—fundamentally requiring understanding, open-mindedness, a lack of bias, cultural competency, anti-racism, anti-homophobia, and many, many other things."
Celebrating BIPOC's accomplishments in science and cultivating new leadership today are strong first steps to make science a guiding force for all. Ms. Uwamanzu-Nna keenly reminds us, "Integration does not mean equality if the space being integrated isn't exuberantly down for the cause." Indeed, educational institutions, scientific companies, and medical centers must acknowledge and embrace their role in democratizing science in order for society to realize racial and scientific justice.
[Editor's Note: To read other articles in this special magazine issue, visit the beautifully designed e-reader version.]
This article is part of the magazine, "The Future of Science In America: The Election Issue," co-published by LeapsMag, the Aspen Institute Science & Society Program, and GOOD.
Alethea.ai sports a grid of faces smiling, blinking and looking about. Some are beautiful, some are oddly familiar, but all share one thing in common—they are fake.
Alethea creates "synthetic media"— including digital faces customers can license saying anything they choose with any voice they choose. Companies can hire these photorealistic avatars to appear in explainer videos, advertisements, multimedia projects or any other applications they might dream up without running auditions or paying talent agents or actor fees. Licenses begin at a mere $99. Companies may also license digital avatars of real celebrities or hire mashups created from real celebrities including "Don Exotic" (a mashup of Donald Trump and Joe Exotic) or "Baby Obama" (a large-eared toddler that looks remarkably similar to a former U.S. President).
Naturally, in the midst of the COVID pandemic, the appeal is understandable. Rather than flying to a remote location to film a beer commercial, an actor can simply license their avatar to do the work for them. The question is—where and when this tech will cross the line between legitimately licensed and authorized synthetic media to deep fakes—synthetic videos designed to deceive the public for financial and political gain.
Deep fakes are not new. From written quotes that are manipulated and taken out of context to audio quotes that are spliced together to mean something other than originally intended, misrepresentation has been around for centuries. What is new is the technology that allows this sort of seamless and sophisticated deception to be brought to the world of video.
"At one point, video content was considered more reliable, and had a higher threshold of trust," said Alethea CEO and co-founder, Arif Khan. "We think video is harder to fake and we aren't yet as sensitive to detecting those fakes. But the technology is definitely there."
"In the future, each of us will only trust about 15 people and that's it," said Phil Lelyveld, who serves as Immersive Media Program Lead at the Entertainment Technology Center at the University of Southern California. "It's already very difficult to tell true footage from fake. In the future, I expect this will only become more difficult."
How do we know what's true in a world where original videos created with avatars of celebrities and politicians can be manipulated to say virtually anything?
As the U.S. 2020 Presidential Election nears, the potential moral and ethical implications of this technology are startling. A number of cases of truth tampering have recently been widely publicized. On August 5, President Donald Trump's campaign released an ad featuring several photos of Joe Biden that were altered to make it seem like was hiding all alone in his basement. In one photo, at least ten people who had been sitting with Biden in the original shot were cut out. In other photos, Biden's image was removed from a nature preserve and praying in church to make it appear Biden was in that same basement. Recently several videos of Speaker of the House Nancy Pelosi were slowed down by 75 percent to make her sound as if her speech was slurred.
During a campaign event in Florida on September 15 of this year, former Vice President Joe Biden was introduced by Puerto Rican singer-songwriter Luis Fonsi. After he was introduced, Biden paid tribute to the singer-songwriter—he held up his cell phone and played the hit song "Despecito". Shortly afterward, a doctored version of this video appeared on self-described parody site the United Spot replacing the Despicito with N.W.A.'s "F—- Tha Police". By September 16, Donald Trump retweeted the video, twice—first with the line "What is this all about" and second with the line "China is drooling. They can't believe this!" Twitter was quick to mark the video in these tweets as manipulated media.
Twitter had previously addressed several of Donald Trump's tweets—flagging a video shared in June as manipulated media and removing altogether a video shared by Trump in July showing a group promoting the hydroxychloroquine as an effective cure for COVID-19. Many of these manipulated videos are ultimately flagged or taken down, but not before they are seen and shared by millions of online viewers.
These faked videos were exposed rather quickly, as they could be compared with the original, publicly available source material. But what happens when there is no original source material? How do we know what's true in a world where original videos created with avatars of celebrities and politicians can be manipulated to say virtually anything?
"This type of fake media is a profound threat to our democracy," said Reid Blackman, the CEO of VIRTUE--an ethics consultancy for AI leaders. "Democracy depends on well-informed citizens. When citizens can't or won't discern between real and fake news, the implications are huge."
In light of the importance of reliable information in the political system, there's a clear and present need to verify that the images and news we consume is authentic. So how can anyone ever know that the content they are viewing is real?
"This will not be a simple technological solution," said Blackman. "There is no 'truth' button to push to verify authenticity. There's plenty of blame and condemnation to go around. Purveyors of information have a responsibility to vet the reliability of their sources. And consumers also have a responsibility to vet their sources."
Yet the process of verifying sources has never been more challenging. More and more citizens are choosing to live in a "media bubble"—gathering and sharing news only from and with people who share their political leanings and opinions. At one time, United States broadcasters were bound by the Fairness Doctrine—requiring them to present controversial issues important to the public in a way that the FCC deemed honest, equitable and balanced. The repeal of this doctrine in 1987 paved the way for new forms of cable news channels such as Fox News and MSNBC that appealed to viewers with a particular point of view. The Internet has only exacerbated these tendencies. Social media algorithms are designed to keep people clicking within their comfort zones by presenting members with only the thoughts and opinions they want to hear.
"I sometimes laugh when I hear people tell me they can back a particular opinion they hold with research," said Blackman. "Having conducted a fair bit of true scientific research, I am aware that clicking on one article on the Internet hardly qualifies. But a surprising number of people believe that finding any source online that states the fact they choose to believe is the same as proving it true."
Back to the fundamental challenge: How do we as a society root out what's false online? Lelyveld suggests that it will begin by verifying things that are known to be true rather than trying to call out everything that is fake. "The EU called me in to talk about how to deal with fake news coming out of Russia," said Lelyveld. "I told them Hollywood has spent 100 years developing special effects technology to make things that are wholly fictional indistinguishable from the truth. I told them that you'll never chase down every source of fake news. You're better off focusing on what can be proved true."
Arif Khan agrees. "There are probably 100 accounts attributed to Elon Musk on Twitter, but only one has the blue checkmark," said Khan. "That means Twitter has verified that an account of public interest is real. That's what we're trying to do with our platform. Allow celebrities to verify that specific videos were licensed and authorized directly by them."
Alethea will use another key technology called blockchain to mark all authentic authorized videos with celebrity avatars. Blockchain uses a distributed ledger technology to make sure that no undetected changes have been made to the content. Think of the difference between editing a document in a traditional word processing program and editing in a distributed online editing system like Google Docs. In a traditional word processing program, you can edit and copy a document without revealing any changes. In a shared editing system like Google Docs, every person who shares the document can see a record of every edit, addition and copy made of any portion of the document. In a similar way, blockchain helps Alethea ensure that approved videos have not been copied or altered inappropriately.
While AI companies like Alethea are moving to ensure that avatars based on real individuals aren't wrongly identified, the situation becomes a bit murkier when it comes to the question of representing groups, races, creeds, and other forms of identity. Alethea is rightly proud that the completely artificial avatars visually represent a variety of ages, races and sexes. However, companies could conceivably license an avatar to represent a marginalized group without actually hiring a person within that group to decide what the avatar will do or say.
"I don't know if I would call this tokenism, as that is difficult to identify without understanding the hiring company's intent," said Blackman. "Where this becomes deeply troubling is when avatars are used to represent a marginalized group without clearly pointing out the actor is an avatar. It's one thing for an African American woman avatar to say, 'I like ice cream.' It's entirely different thing for an African American woman avatar to say she supports a particular political candidate. In the second case, the avatar is being used as social proof that real people of a certain type back a certain political idea. And there the deception is far more problematic."
"It always comes down to unintended consequences of technology," said Lelyveld. "Technology is neutral—it's only the implementation that has the power to be good or bad. Without a thoughtful approach to the cultural, moral and political implications of technology, it often drifts towards the bad. We need to make a conscious decision as we release new technology to ensure it moves towards the good."
When presented with the idea that his avatars might be used to misrepresent marginalized groups, Khan was thoughtful. "Yes, I can see that is an unintended consequence of our technology. We would like to encourage people to license the avatars of real people, who would have final approval over what their avatars say or do. As to what people do with our completely artificial avatars, we will have to consider that moving forward."
Lelyveld frankly sees the ability for advertisers to create avatars that are our assistants or even our friends as a greater moral concern. "Once our digital assistant or avatar becomes an integral part of our life—even a friend as it were, what's to stop marketers from having those digital friends make suggestions about what drink we buy, which shirt we wear or even which candidate we elect? The possibilities for bad actors to reach us through our digital circle is mind-boggling."
Ultimately, Blackman suggests, we as a society will need to make decisions about what matters to us. "We will need to build policies and write laws—tackling the biggest problems like political deep fakes first. And then we have to figure out how to make the penalties stiff enough to matter. Fining a multibillion-dollar company a few million for a major offense isn't likely to move the needle. The punishment will need to fit the crime."
Until then, media consumers will need to do their own due diligence—to do the difficult work of uncovering the often messy and deeply uncomfortable news that's the truth.
[Editor's Note: To read other articles in this special magazine issue, visit the beautifully designed e-reader version.]