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.
Medical Tourism Is Booming, Fueled by High Costs and Slow Access
When Bridget Snell found out she had multiple sclerosis, she knew she would put up a fight. The 45 year-old mother of two, who lives in Duxbury, Mass., researched options to slow the progress of the disease. The methods she had been trying were invasive, often with side effects of their own.
An estimated 2.2 million Americans will travel abroad for medical care in 2020.
Then she stumbled upon autologous hematopoietic stem cell transplantation (AHSCT), an experimental and controversial procedure that uses the patient's own stem cells to try to halt the progress of the disease. The FDA has not approved this procedure and last year issued a warning about unapproved stem cell therapies.
Despite the lack of established science, Snell weighed her options and decided she would undergo the procedure at Clinica Ruiz, a private clinic in Puebla, Mexico, which boasts of the largest volume of cases in the world using the procedure to treat MS. In April 2018, she went to Mexico for treatment, returned home in a month, and continues to do well.
But a positive outcome is far from assured, says Sheldon Krimsky, adjunct professor in the Department of Public Health and Community Medicine at the Tufts School of Medicine.
"Often you can't get a good sense of what the quality of treatment is in another country," Krimsky says, adding that many companies promise procedures whose results have not been clinically validated. "Unfortunately, people are very easily persuaded by hope."
Traveling for Medical Care
Snell is one of many Americans who have traveled abroad to access medical care. Patients Beyond Borders, a medical tourism consultancy, estimates that 2.2 million Americans will do so in 2020. A 2018 BCC report projected a five-year compounded annual industry growth rate of 13.2 percent. Adding to the demand is the aging population, which is expected to reach 95 million people by 2060 – nearly double the number in 2018.
While Snell traveled to Mexico to try a procedure that was not yet available in the United States, other patients do so for a variety of reasons, primarily cost and speed of access. For example, despite having "pretty good insurance coverage," Washington resident Soniya Gadgil needed dental procedures that would have cost thousands of dollars out-of-pocket. An India native, she decided to travel to Pune, India to visit her parents -- and while there, she got the two root canals and implant that she needed. Gadgil saved 60 percent on the final bill.
Leaving the country for medical care is not restricted to dental work or FDA-banned procedures either. Patients visit countries around the world — South America, Central America, and the Caribbean top the list — for a number of other problems, such as knee and hip replacements and bariatric operations. The most common procedures sought abroad are for dentistry, cosmetic surgery, and cardiac conditions.
Traveling abroad to access less expensive procedures is a damning indictment of healthcare delivery in the United States, says Dr. Leigh Turner, associate professor at the Center for Bioethics at the University of Minnesota. "We have people who are being forced out of the system because of high costs. Collectively it suggests a real structural problem in terms of the organization of healthcare in the United States," Turner says.
The Growth of the Online Marketplace
Nevertheless, medical tourism is booming and a number of online businesses now meet patients' demand for discovery and facilitation of medical care abroad, like PlanMyMedicalTrip.com, Doctoorum.com, and Wellness Travels.
Anurav Rane, CEO and Founder of PlanMyMedicalTrip.com, says the company presents each potential client with options, a la Expedia. A knee replacement in India costs $2,500, a significantly cheaper option even with a $1,110 round-trip airfare from the United States, Rane says. The average cost for an inpatient total knee replacement in the United States in 2019 was a little more $30,000.
Once the client chooses a specific procedure at a specific hospital, the company facilitates the necessary groundwork including the medical visa, tickets, hotel stay, booking the procedure and pre and post-op stay, and consults with the surgeons or doctors even before arrival. "The hassle of planning is on us," Rane says. Once patients are settled in the accommodations, they undergo the procedure.
Playing in the Legal Shadows
The online marketplace companies and the medical team execute an orchestrated dance – but what happens if the patient is harmed during or after the procedure?
Turner says that medical malpractice, if it occurs, can be difficult to pursue abroad. "There are countries where the courts are notoriously slow and it's very difficult to get any kind of meaningful action and settlements," he says, even if the claims have a legitimate basis.
The industry's biggest challenge is trust.
Snell signed a waiver absolving her surgeons in Mexico of any legal claims. But, she points out, that's standard process even for procedures in the United States. "I signed just as many waivers as I would going into any surgery [in the US]."
While that might well be true, Turner argues, Americans don't waive legal rights when they sign consent forms. "There are some protections for patients here in the United States."
Beyond U.S. Medical Tourism
As expected, it's not just Americans who travel abroad for medical care. Lithuania-based Wellness Travels sees a significant percentage of its clients from the EU. PlanMyMedicaltrip.com has 15,000 surgeons and doctors from 12 countries in its database. Egypt-based Doctoorum works with professionals in its own country and attracts clients from the Middle East. It is looking to expand to include doctors from Jordan and India, among other countries.
The term "tourism" is misleading here because it muddies the picture about what post-op should really look like, says Gediminas Kondrackis of Wellness Travels. "Unfortunately a lot of medical travel facilitators mislead their clients by advertising beach holiday packages and the like. Post-op is really about quiet recovery inside for a few days; being out in the sun is not advisable."
The industry's biggest challenge is trust. "The dentist I went to is actually a friend of mine who has a successful practice for several years," says Gadgil, the Washington resident who had dental work done in India. "I'd hesitate to go to someone I don't know or to a place I have no experience with." Her apprehensions are not unusual. After all, anxiety is an expected reaction to any surgery. Word-of-mouth, cost savings, and thorough research may alleviate some of these trust issues.
"I had natural apprehensions and would have had them had I gone up the road to Brigham and Women's (in Boston) just as I did over the border," Snell says, "but I had done my homework extensively. That took a lot of the fear out of it."
Medical tourism will only increase, predicts Kondrackis. "There is still a lot of room to grow. Higher numbers of medical travelers could help reduce the strain on local healthcare systems by reducing wait times and controlling costs."
While patients who have benefited from medical tourism swear by it, the best cure would be to start at home by establishing healthcare equity, Krimsky says.
On the flip side, says Turner, it is debatable whether medical tourism actually benefits host countries, where local residents might get priced out of procedures at these exclusive clinics. Even if laws in host countries such as India might mandate "charity care" for poorer local patients, that does not always happen, Turner says. The trickle-down theory that these more expensive clinics will broaden access to care is often a pipe dream, he adds.
While patients who have benefited from medical tourism swear by it, the best cure would be to start at home by establishing healthcare equity, Krimsky says. "Now if we had universal healthcare in the United States," he adds, "that would be an entirely different story."
Or maybe not. Rane, of PlanMyMedicalTrip.com, has observed an influx of patients to India from Canada, a country with universal healthcare.
The reason they say they travel for care? Long wait times for procedures.
The Fight Against Air Pollution Gets Personal With Sleek New Masks
Go outside, close your eyes, and inhale. Do your lungs fill with fresh air – or are you taking a big deep breath of nasty fumes?
A new crop of tech startups is emerging to meet a growing demand for individualized clean air.
It depends, of course, on where you live – and for many people, the situation is worsening. According to a recent analysis by two Carnegie Mellon economists, particulate air matter pollution rose 5.5 percent in the U.S. between 2016 and 2018, resulting in almost 10,000 premature deaths.
Despite the urgency of the problem, there seems to be no indication that civic leadership will be protecting our air any time soon. The United States left the Paris Agreement recently, Brazil is still letting the Amazon burn and Australia lacks a national strategy for tackling air pollution, despite its recent catastrophic bushfires. China's deceptive coronavirus communication only underscores the point that safeguarding the public's health can take a backseat to politics and power.
But people still need to breathe, and now a new crop of tech startups is emerging to meet a growing demand for individualized clean air. At the recent Consumer Electronics Show, I saw futuristic masks, smart goggles and self-contained apparatuses promising to filter the bad air away.
Obviously, a dollar store surgical mask wasn't going to cut it anymore.
"We have seen a huge amount of interest and a growing awareness of the issues with masks and respirators," says AO Air co-founder Dan Bowden. "The more regularly someone wears a mask or a respirator, the deeper our Atmos solution resonates with them. Leading markets have been Korea, China and, unexpectedly, Thailand."
Lined up for a Summer 2020 launch, the AO Air filter fits across your mouth from ear to ear – kind of like Geordi LaForge's Star Trek: The Next Generation eye sensors, but across your jaw line. The translucent mask continually pumps cool air for about 5 hours per charge and will cost $350 USD.
"Soon, we'll have private schools selling themselves on the air quality of the building."
"There is a movement towards individuals taking control over their own health, but also we see a great movement towards individuals taking control over the impacts that they have on the wider world," Bowden says. "We believe that the deeper systemic change has always come from humans working together and not being reliant upon high powers."
Bowden says the company wants to help the individual citizen, clean up the public building air ("factories, hospitals, workplaces") and, most interestingly, collect pollution metrics data via the masks. "We are looking forward to hearing how this information can be used in creative ways," Bowden adds. It is yet unclear how the data will be shared and how proprietary the information will be for AO Air and its competitors.
Scientific artist Michael Pinsky is taking a more experiential approach to raise awareness of the problem. In 2017, he launched traveling pollution pods, these giant, interconnected rooms recreating the air quality of several cities from London to Los Angeles. His exhibit has been on near constant tour, hitting the New York Climate Action Summit, the recent COP25 in Madrid, and other major events.
When I visited, I could handle being in the New Delhi air quality pod for only about 20 seconds. It made my eyes water and burn.
"Now you have new, 8 – 10 million British pound houses being built with premium air systems," Pinsky says. "Soon, we'll have private schools selling themselves on the air quality of the building." I mention my own children, whose schools we selected based on ratings and rankings. I could easily see "indoor air quality" being another metric. Perhaps another lever of privilege.
Pinsky gives a wily chuckle.
"The legislators have to get on top of it – or air will be privatized like space or our schools," he says.
"Clean air is a right," he adds. "Everyone should have it."