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.
A ‘Press Release from the Future’ Announces Service for Parents to Genetically Engineer Their Kids
Most people don't recognize how significantly and soon the genetic revolution will transform healthcare, the way we make babies, and the nature of the babies we make. The press release below is a thought experiment today. Within a decade, it won't be. * * *
Genomix Launches uDarwin, a New Business to Help Parents Optimize the Health, Well-Being, and Beneficial Traits of their Future Offspring
NEW YORK, July 29, 2029 /PRMediawire/ -- Genomix, a Caribbean-based health and wellness company, today announced the launch of uDarwin, a discrete, confidential service helping parents select and edit the pre-implanted embryos of their future children.
"Our mission is to help prospective parents realize their dream of parenthood in the safest manner possible while helping them optimize their future children's potential."
"We often fetishize nature," said Genomix Medical Director and Co-Founder Dr. Noam Heller, "but the traditional process of conception through sex confers risks on future children that can be significantly reduced through the careful and safe application of powerful new technologies."
Approximately three percent of all children are born with some type of harmful genetic mutation. Through its patented process of extracting eggs from the prospective mother, fertilizing these eggs with sperm from the intended father or from one of the superstar donor samples in the proprietary uDarwin gene bank, and screening up to twenty of these embryos prior to implantation, this risk can be brought down to under one percent.
"Having a baby is the most intimate and important experience in most people's lives," said Genomix CEO and co-founder Rich Azadian. "Our mission is to help prospective parents realize their dream of parenthood in the safest manner possible while helping them optimize their future children's potential."
In addition to screening pre-implanted embryos to significantly reduce disease risk, uDarwin uses its proprietary algorithm for the "polygenic scoring" of embryos to directionally predict potential future attributes including healthspan, height, IQ, personality style, and other complex genetic traits. Attributes once accepted as being the result of fate or chance can now increasingly be selected by parents from among their own natural embryos using this entirely safe process.
A premium product offering, uDarwin+, provides parents the opportunity to make up to three single gene mutations to their selected embryo to reduce a risk or confer a particular benefit. Among the most popular options for this service include increased resistance to HIV and other viruses, a greater ability to build muscle mass, and enhanced cognition. Additional edits will be made available as the science of human genome editing further advances.
Jamie Metzl's new book, Hacking Darwin: Genetic Engineering and the Future of Humanity, explores how the genetic revolution is transforming our healthcare, the way we make babies, and the nature of and babies we make, what this means for each of us, and what we must all do now to prepare for what's coming.
"uDarwin is proud to be the first company in the world offering the highest level of reproductive choice to parents," Mr. Azadian continued. "Genetic technologies are allowing us for the first time to crack the code of our health and identity. As pioneers in applying the most advanced genetic technologies to human reproduction, we recognize that prospective parents' desire for the services we offer exceeds societal levels of comfort with this technology. Our highest levels of customer service, comfort, and confidentiality ensure parents can secure massive benefits for their future children while avoiding unnecessary attention or any compromise of privacy."
All uDarwin services will be carried out in the company's state-of-the-art clinic aboard a super-luxury 500-foot yacht operating in international waters. After applying on the secure uDarwin website and gaining approval, clients are provided a date, time, and location to meet a company representative at a conveniently located Caribbean marina from where they will be shuttled to the uDarwin clinic. "Pioneers have always traveled beyond boundaries to create new possibilities," Mr. Azadian added. "Conceiving a child in a location where it can receive the greatest benefits of advanced science is no different."
"Pioneers have always traveled beyond boundaries to create new possibilities."
The cost of the basic uDawin service is $5 million, with half paid up front and half paid following the successful birth of a baby. Charges for uDarwin+, premium sperm or egg donors, surrogates, and other services are additional. "uDarwin is not for everyone," Mr. Azadian said, "but most parents of significant means understand that the benefits of optimal genetics far exceed almost any monetary cost."
"The genetic revolution has already begun," Medical Director Heller added. "The question for prospective parents is whether they want to be the last parents who left the health and identity of their future children to chance or the first to give their future children the greatest chance of optimal health and maximal fulfillment in the new reality that will arrive far sooner than most people appreciate."
If you could genetically alter your future children, would you? https://t.co/N0tqwX4Qd3— leapsmag (@leapsmag) 1564426548.0
30 Million People Are Uninsured. New Startup Wants to Connect Them Directly to Doctors.
When Eli Hall was in his thirties, he had a kidney stone that needed surgery. Despite having medical insurance, his out-of-pocket costs for the procedure came to $4,000.
Mira promises that most routine visits will cost around $99 or slightly above.
Hall, an Arizona-based small business owner soon discovered that such costs were proving to be the norm. As a result, he stopped buying insurance altogether. Now he pays in to a subscription-based model of healthcare where $300 per month will get him, his wife, and two children unlimited access (either over the phone or through in-office visits) to doctors in the Redirect Health network. This subscription also meets the Affordable Care Act insurance mandate.
Hall's move away from the traditional insurance care model might have been deliberate, but not everyone is as lucky. In 2018, the Centers for Disease Control and Prevention reported that 30.1 million people under the age of 65 were uninsured in the United States. Now, a new startup called TalktoMira is helping those without insurance access doctors for routine visits — affordably.
The service, accessed through the website (or phone or text), evaluates a user's symptoms and returns recommendations for specific doctors that factor in wait times, traffic conditions, and pricing. Khang T. Vuong, the founder and CEO, expects that doctors will be willing to provide discounts through this model, as they're eliminating the administrative costs associated with the insurance middleman. Some discounts can be as high as 50 percent, according to the website.
Mira promises that most routine visits will cost around $99 or slightly above. "This provides people who can't afford paying $3,000 to $4,000 per year in insurance premiums an alternative to access basic healthcare," Vuong says.
As of press time, Mira is available in the Washington D.C., Northern Virginia, and Dallas, and will soon expand across the country via a partnership with a national network of healthcare providers.
"For those who live in places where we don't have a presence, users can still search for the nearest and least busy urgent cares. The goal is to build a national database of walk-in clinics with straightforward upfront pricing so the 30 million uninsured and 56 million underinsured have access to same or next day primary care at an upfront affordable cost," Vuong says.
Getting Around Traditional Insurance
Mira caters to the uninsured by helping them navigate the healthcare system the moment they need it. "Currently cash patients have to rely mainly on Google for searching for options," Vuong says, adding that patients do also occasionally work with the app ZocDoc for booking. "However [ZocDoc] info has no pricing information; we fill in that much-needed gap," Vuong says. In focus groups TalktoMira conducted, a majority (70 percent) reported cost of service as their main barrier to healthcare.
As Hall's subscription-based model proves, cash-driven access like TalktoMira is not the only option for the uninsured. Direct primary care like the kind that Redirect Health delivers is another way to get around high premiums. It does so by effectively eliminating the administrative costs associated with the middleman, says David Slepak, the director of business development at Redirect. Doctors who are tired of packed schedules and the administrative headaches involved with the insurance model are only too happy to be a part of subscription or cash-based models, explains Vuong.
But TalktoMira and direct primary care models don't resolve the challenges of insurance related to catastrophic events.
James Corbett, Principal at Initium Health, points out the uninsured can also access federally qualified health centers across the country or a free clinic, but these might have problems of long wait times.
"Not a Cure-All"
TalktoMira might not provide the same level of consistency that seeing a primary care doctor does, though Vuong says there are ways to see the same doctor again by choosing them through the system. He adds that TalkToMira also empowers patients by asking them about their satisfaction after the visit and to see if any further checkups might be warranted, thus enabling patients to rate their doctors just like they would any other service provider.
"I might not have one primary care doctor, but I have the entire system behind me," says Hall.
But TalktoMira and direct primary care models don't resolve the challenges of insurance related to catastrophic events. The subscription model won't kick in if the patient has a heart attack and needs to be hospitalized, for example. So patients are also encouraged to purchase a high-deductible, low-premium plan for such contingencies.
"We're spending so much on insurance for the car that we can't afford the gas to drive the car."
Vuong recognizes TalktoMira doesn't solve all the problems related to insurance, but it can at least start by helping to facilitate access to routine visits. Even the insured don't always seek out a doctor because of copays and high deductibles, Slepak says. "We're spending so much on insurance for the car that we can't afford the gas to drive the car," he says.
TalktoMira is hoping that by making routine care accessible, it might both lessen the crunch in emergency rooms where many people don't really belong, and also nip problems in the bud.
"It's not a cure-all, not a panacea," admits Vuong. "It won't get you a knee replacement. But at least I can get you in the system so you might not have to get to that point."