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.
Turning Algae Into Environmentally Friendly Fuel Just Got Faster and Smarter
Was your favorite beach closed this summer? Algae blooms are becoming increasingly the reason to blame and, as the climate heats up, scientists say we can expect more of the warm water-loving blue-green algae to grow.
"We have removed a significant development barrier to make algal biofuel production more efficient and smarter."
Oddly enough, the pesky growth could help fuel our carbon-friendly options.
This year, the University of Utah scientists discovered a faster way to turn algae into fuel. Algae is filled with lipids that we can feed our energy-hungry diesel engines. The problem is extracting the lipids, which usually requires more energy to transform than the actual energy we'd get – not achieving what scientists call "energy parity."
But now, the University of Utah team has discovered a new mix that is more efficient and much faster. We can now extract more power from algae with less waste materials after the fact. Paper co-author Dr. Leonard Pease says, "We have removed a significant development barrier to make algal biofuel production more efficient and smarter. Our method puts us much closer to creating biofuels energy parity than we were before."
Next Up
Algae has a lot going for it as an alternative fuel source. It grows fast and easily, absorbs carbon dioxide, does not compete with food crops for land, and could produce up to 60 times more oil than standard land-based energy crops, according to the U.S. Department of Energy. Yet the costs of algal biofuel production are still expensive for now.
According to Science Daily, only about five percent of total primary energy use in the United States came from algae and other biomass forms. By making the process more efficient, America and other nations could potentially begin relying on more plentiful resources – which, ironically, are more common now because of climate change.
Algae fuel efficiency is already a proven concept. A decade ago, Continental Airlines completed a 90-minute Boeing 737-800 flight with one engine split between biofuel and aircraft fuel. The biofuel was straight from algae. (Other flights were done based on nut fuel and other alternative sources.) The commercial airplane required no modification to the engine and the biofuel itself exceeded the standards of traditional jet fuel.
The problem, as noted at the time, is that biofuels derived from algae had yet to be proven as "commercially competitive."
The University of Utah's discovery could mean cheaper processing. At this point, it is less about if it works and more about if it is a practical alternative.
However, it's unclear how long it will take for algae to become more mainstream, if ever.
Open Questions
Higher efficiency and simpler transformations could mean lower prices and more business access. However, it's unclear how long it will take for algae to become more mainstream, if ever. The algae biofuel worked great for a relatively sophisticated Boeing 737 engine, but your family car, the cross-country delivery trucks and other less powerful machines may need to be modified – and that means the industry-at-large would have to revise their products in order to support the change.
Future-focused groups are already looking at how algae can fuel our space programs, especially if it is more renewable, safe and, potentially, cheaper than our traditional fuel choices. But first, it is worth waiting and seeing if corporations and, later, citizens are willing to take the plunge.
More Families Are Using Nanny Cams to Watch Elderly Loved Ones, Raising Ethical Questions
After Jackie Costanzo's mother broke her right hip in a fall, she needed more hands-on care in her assisted-living apartment near Sacramento, California. A social worker from her health plan suggested installing a video camera to help ensure those services were provided.
Without the camera, Costanzo wouldn't have a way to confirm that caregivers had followed through with serving meals, changing clothes, and fulfilling other care needs.
When Costanzo placed the device in May 2018, she informed the administrator and staff, and at first, there were no objections. The facility posted a sign on the apartment's front door, alerting anyone who entered of recording in progress.
But this past spring, a new management company came across the sign and threatened to issue a 30-day eviction notice to her 93-year-old mother, Louise Munch, who has dementia, for violating a policy that prohibits cameras in residents' rooms. With encouragement from California Advocates for Nursing Home Reform, Costanzo researched the state's regulations but couldn't find anything to support or deny camera use. She refused to remove the recording device and prevailed.
"In essence, my mom was 'grandfathered in' because she moved in under a management company that did not specify that residents could not have cameras," says Costanzo, 73, a retired elementary schoolteacher who lives a three-hour drive away, in Silicon Valley, and visits one day every two weeks. Without the camera, Costanzo, who is her mother's only surviving child, wouldn't have a way to confirm that caregivers had followed through with serving meals, changing clothes, and fulfilling other care needs.
As technological innovations enable next of kin to remain apprised of the elderly's daily care in long-term care facilities, surveillance cameras bring legal and privacy issues to the forefront of a complex ethical debate. Families place them overtly or covertly—disguised in a makeshift clock radio, for instance—when they suspect or fear abuse or neglect, so they can maintain a watchful eye, perhaps deterring egregious behavior. But the cameras also capture intimate caregiving tasks, such as bathing and toileting, as well as dressing and undressing, which may undermine the dignity of residents.
So far, laws or guidelines in eight states—Illinois, Maryland, New Mexico, Oklahoma, Texas, Utah, Virginia, and Washington—have granted families the rights to install cameras in a resident's room. In addition, about 15 other states have proposed legislation. Some states, such as Pennsylvania, have put forth regulatory compliance guidance, according to a column published in the July/August 2018 issue of Annals of Long-Term Care.
The increasing prevalence of this legislation has placed it on the radar of long-term care providers. It also suggests a trend to clarify responsible camera use in monitoring services while respecting privacy, says Victor Lane Rose, the column's editor and director of aging services at ECRI Institute, a health care nonprofit near Philadelphia, Pennsylvania.
In most cases, a resident's family installs a camera or instigates a request in hopes of sparing their loved one from the harms of abuse, says James Wright, a family physician who serves as the ethics committee's vice chair of the Society for Post-Acute and Long-Term Care Medicine in Columbia, Maryland. A camera also allows the family to check in on the resident from afar and remain on alert for a potential fall or agitated state, he says.
"It's rare that a facility will have 24-hour presence in a patient's room. You won't have a nurse in there all the time," says Wright, who is also medical director of two long-term care centers and one assisted-living facility around Richmond, Virginia. Particularly "with dementia, the family often wonders" if their loved one is safe.
While offering families peace of mind, he notes that video cameras can also help exonerate caregivers accused of abuse or theft. Hearing aids, which typically cost between $2,000 and $3,000 each, often go missing. By reviewing a video together, families and administrators may find clues to a device's disappearance. Conversely, Wright empathizes with the main counterargument against camera use, which is the belief that "invasion of privacy is also invasion of human dignity."
In respecting modesty, ethical questions abound over whether a camera should be turned off when a patient is in the midst of receiving personal care, such as dressing and undressing or using bedpans. Other ethical issues revolve around who may access the recordings, says Lori Smetanka, executive director of the National Consumer Voice for Quality Long-Term Care in Washington, D.C.
Video cameras, she contends, are only one tool in shielding residents from abuse. They are "not substitutes for personal involvement," she says. "People need to be very vigilant visiting their family members, and facilities have a responsibility to ensure that residents are free of abuse."
Lack of accountability perpetuates abuse in long-term care settings and stems in large part from systemic underfunding.
Educating employees in abuse prevention becomes paramount, and families should ask about staff training before placing their loved one in a long-term care facility, Smetanka says. Prior to installing a camera, she recommends consulting an attorney who is familiar with this issue.
But thoughts of a camera often don't occur to families until an adverse event affects their loved one, says Toby Edelman, a senior policy attorney at the Center for Medicare Advocacy, a nonprofit organization with headquarters in Washington, D.C., and Connecticut.
"These cameras can show exactly what's going on," she explains, noting that prosecutors have used the recordings in litigation. "When residents have injuries of unknown origin" and they can't verbalize what happened to them, "the cameras may document that yes, the resident was actually hit by somebody."
With a resident's safety and security being "the most important consideration," the American Health Care Association in Washington, D.C., which represents long-term and post-acute care providers, supports allowing states, clinicians, and patients to decide about camera use on a local level, says David Gifford, senior vice president of quality and regulatory affairs and chief medical officer.
"We've seen some success with tools such as permissive legislation, where residents and their loved ones have the ability to determine whether a camera is right for them while working with the center openly and ensuring the confidentiality of other residents," says Gifford, who practiced as a geriatrician. "It is important to note, however, that surveillance cameras are still only one element of the quality matrix. We can never hope to truly improve quality care by catching bad actors after the fact."
Lack of accountability perpetuates abuse in long-term care settings and stems in large part from systemic underfunding. Low wages and morale are tied to high turnover, and cameras don't address this overarching problem, says Clara Berridge, an assistant professor of social work at the University of Washington in Seattle, who has co-authored articles on surveillance devices in elder care.
Employees often don't perceive a nursing assistant position as a long-term career trajectory and may not feel vested in the workplace. Training in the recognition and reporting of abuse becomes ineffective when workers quit shortly thereafter. Many must juggle multiple jobs to make ends meet. Staffing shortages are endemic, leading to inadequate oversight of residents and voicing of abuse complaints, she says.
In Berridge's assessment, cameras may do more harm than good. Respondents to a survey she conducted of nursing homes and assisted-living facilities in the United States found that recording devices tend to fuel workers' anxiety amid a culture that further demoralizes and dehumanizes the care they provide.
Consent becomes particularly thorny in shared rooms, which are more common than not in nursing homes. States that permit in-room cameras mandate that roommates or their legal representative be made aware. Even if the camera is directed away from their bed, it will still capture conversations as well as movements that enter its scope. "Surveillance isn't the best way to protect adults in need of support," Berridge says. "Public investment in quality care is."
"The camera is invaluable. But there's no law that says you can have it automatically, so that's wrong."
In the one-bedroom assisted-living apartment where Costanzo's mother lives alone, consent from another resident wasn't needed. Without a roommate, the camera is much less intrusive, although Costanzo wishes she had put one in the living room, not just the bedroom, for more security.
Her safety concerns escalated when she read about a Texas serial killer who smothered victims after gaining access to senior care facilities by "masquerading as a maintenance man." She points to such horrifying incidents, although exceedingly rare, as further justification for permitting cameras to help guard the vulnerable against abuse in long-term care settings. And she hopes to advocate for an applicable law in California.
"The camera is invaluable," says Costanzo, who pays for monthly Wi-Fi service so she can see and interact with her mother, who turns 94 in October, any time of day or night. "But there's no law that says you can have it automatically, so that's wrong."