Is It Possible to Predict Your Face, Voice, and Skin Color from Your DNA?
Renowned genetics pioneer Dr. J Craig Venter is no stranger to controversy.
Back in 2000, he famously raced the public Human Genome Project to decode all three billion letters of the human genome for the first time. A decade later, he ignited a new debate when his team created a bacterial cell with a synthesized genome.
Most recently, he's jumped back into the fray with a study in the September issue of the Proceedings of the National Academy of Sciences about the predictive potential of genomic data to identify individual traits such as voice, facial structure and skin color.
The new study raises significant questions about the privacy of genetic data.
His study applied whole-genome sequencing and statistical modeling to predict traits in 1,061 people of diverse ancestry. His approach aimed to reconstruct a person's physical characteristics based on DNA, and 74 percent of the time, his algorithm could correctly identify the individual in a random lineup of 10 people from his company's database.
While critics have been quick to cast doubt on the plausibility of his claims, the ability to discern people's observable traits, or phenotypes, from their genomes may grow more precise as technology improves, raising significant questions about the privacy and usage of genetic information in the long term.
J. Craig Venter showing slides from his recent study on facial prediction at the Summit Conference in Los Angeles on Nov. 3, 2017.
(Courtesy of Kira Peikoff)
Critics: Study Was Incomplete, Problematic
Before even redressing these potential legal and ethical considerations, some scientists simply said the study's main result was invalid. They pointed out that the methodology worked much better in distinguishing between people of different ethnicities than those of the same ethnicity. One of the most outspoken critics, Yaniv Erlich, a geneticist at Columbia University, said, "The method doesn't work. The results were like, 'If you have a lineup of ten people, you can predict eight."
Erlich, who reviewed Venter's paper for Science, where it was rejected, said that he came up with the same results—correctly predicting eight of ten people—by just looking at demographic factors such as age, gender and ethnicity. He added that Venter's recent rebuttal to his criticism was that 'Once we have thousands of phenotypes, it might work better.' But that, Erlich argued, would be "a major breach of privacy. Nobody has thousands of phenotypes for people."
Other critics suggested that the study's results discourage the sharing of genetic data, which is becoming increasingly important for medical research. They go one step further and imply that people's possible hesitation to share their genetic information in public databases may actually play into Venter's hands.
Venter's own company, Human Longevity Inc., aims to build the world's most comprehensive private database on human genotypes and phenotypes. The vastness of this information stands to improve the accuracy of whole genome and microbiome sequencing for individuals—analyses that come at a hefty price tag. Today, Human Longevity Inc. will sequence your genome and perform a battery of other health-related tests at an entry cost of $4900, going up to $25,000. Venter initially agreed to comment for this article, but then could not be reached.
"The bigger issue is how do we understand and use genetic information and avoid harming people."
Opens Up Pandora's Box of Ethical Issues
Whether Venter's study is valid may not be as important as the Pandora's box of potential ethical and legal issues that it raises for future consideration. "I think this story is one along a continuum of stories we've had on the issue of identifiability based on genomic information in the past decade," said Amy McGuire, a biomedical ethics professor at Baylor College of Medicine. "It does raise really interesting and important questions about privacy, and socially, how we respond to these types of scientific advancements. A lot of our focus from a policy and ethics perspective is to protect privacy."
McGuire, who is also the Director of the Center for Medical Ethics and Health Policy at Baylor, added that while protecting privacy is very important, "the bigger issue is how do we understand and use genetic information and avoid harming people." While we've taken "baby steps," she said, towards enacting laws in the U.S. that fight genetic determinism—such as the Genetic Information and Nondiscrimination Act, which prohibits discrimination based on genetic information in health insurance and employment—some areas remain unprotected, such as for life insurance and disability.
J. Craig Venter showing slides from his recent study on facial prediction at the Summit Conference in Los Angeles on Nov. 3, 2017.
(Courtesy of Kira Peikoff)
Physical reconstructions like those in Venter's study could also be inappropriately used by law enforcement, said Leslie Francis, a law and philosophy professor at the University of Utah, who has written about the ethical and legal issues related to sharing genomic data.
"If [Venter's] findings, or findings like them, hold up, the implications would be significant," Francis said. Law enforcement is increasingly using DNA identification from genetic material left at crime scenes to weed out innocent and guilty suspects, she explained. This adds another potentially complicating layer.
"There is a shift here, from using DNA sequencing techniques to match other DNA samples—as when semen obtained from a rape victim is then matched (or not) with a cheek swab from a suspect—to using DNA sequencing results to predict observable characteristics," Francis said. She added that while the former necessitates having an actual DNA sample for a match, the latter can use DNA to pre-emptively (and perhaps inaccurately) narrow down suspects.
"My worry is that if this [the study's methodology] turns out to be sort-of accurate, people will think it is better than what it is," said Francis. "If law enforcement comes to rely on it, there will be a host of false positives and false negatives. And we'll face new questions, [such as] 'Which is worse? Picking an innocent as guilty, or failing to identify someone who is guilty?'"
Risking Privacy Involves a Tradeoff
When people voluntarily risk their own privacy, that involves a tradeoff, McGuire said. A 2014 study that she conducted among people who were very sick, or whose children were very sick, found that more than half were willing to share their health information, despite concerns about privacy, because they saw a big benefit in advancing research on their conditions.
"We've focused a lot of our policy attention on restricting access, but we don't have a system of accountability when there's a breach."
"To make leaps and bounds in medicine and genomics, we need to create a database of millions of people signing on to share their genetic and health information in order to improve research and clinical care," McGuire said. "They are going to risk their privacy, and we have a social obligation to protect them."
That also means "punishing bad actors," she continued. "We've focused a lot of our policy attention on restricting access, but we don't have a system of accountability when there's a breach."
Even though most people using genetic information have good intentions, the consequences if not are troubling. "All you need is one bad actor who decimates the trust in the system, and it has catastrophic consequences," she warned. That hasn't happened on a massive scale yet, and even if it did, some experts argue that obtaining the data is not the real risk; what is more concerning is hacking individuals' genetic information to be used against them, such as to prove someone is unfit for a particular job because of a genetic condition like Alzheimer's, or that a parent is unfit for custody because of a genetic disposition to mental illness.
Venter, in fact, told an audience at the recent Summit conference in Los Angeles that his new study's approach could not only predict someone's physical appearance from their DNA, but also some of their psychological traits, such as the propensity for an addictive personality. In the future, he said, it will be possible to predict even more about mental health from the genome.
What is most at risk on a massive scale, however, is not so much genetic information as demographic identifiers included in medical records, such as birth dates and social security numbers, said Francis, the law and philosophy professor. "The much more interesting and lucrative security breaches typically involve not people interested in genetic information per se, but people interested in the information in health records that you can't change."
Hospitals have been hacked for this kind of information, including an incident at the Veterans Administration in 2006, in which the laptop and external hard drive of an agency employee that contained unencrypted information on 26.5 million patients were stolen from the employee's house.
So, what can people do to protect themselves? "Don't share anything you wouldn't want the world to see," Francis said. "And don't click 'I agree' without actually reading privacy policies or terms and conditions. They may surprise you."
In May 2022, Californian biotech Ultima Genomics announced that its UG 100 platform was capable of sequencing an entire human genome for just $100, a landmark moment in the history of the field. The announcement was particularly remarkable because few had previously heard of the company, a relative unknown in an industry long dominated by global giant Illumina which controls about 80 percent of the world’s sequencing market.
Ultima’s secret was to completely revamp many technical aspects of the way Illumina have traditionally deciphered DNA. The process usually involves first splitting the double helix DNA structure into single strands, then breaking these strands into short fragments which are laid out on a glass surface called a flow cell. When this flow cell is loaded into the sequencing machine, color-coded tags are attached to each individual base letter. A laser scans the bases individually while a camera simultaneously records the color associated with them, a process which is repeated until every single fragment has been sequenced.
Instead, Ultima has found a series of shortcuts to slash the cost and boost efficiency. “Ultima Genomics has developed a fundamentally new sequencing architecture designed to scale beyond conventional approaches,” says Josh Lauer, Ultima’s chief commercial officer.
This ‘new architecture’ is a series of subtle but highly impactful tweaks to the sequencing process ranging from replacing the costly flow cell with a silicon wafer which is both cheaper and allows more DNA to be read at once, to utilizing machine learning to convert optical data into usable information.
To put $100 genome in perspective, back in 2012 the cost of sequencing a single genome was around $10,000, a price tag which dropped to $1,000 a few years later. Before Ultima’s announcement, the cost of sequencing an individual genome was around $600.
Several studies have found that nearly 12 percent of healthy people who have their genome sequenced, then discover they have a variant pointing to a heightened risk of developing a disease that can be monitored, treated or prevented.
While Ultima’s new machine is not widely available yet, Illumina’s response has been rapid. In September 2022, the company unveiled the NovaSeq X series, which it describes as its fastest most cost-efficient sequencing platform yet, capable of sequencing genomes at $200, with further price cuts likely to follow.
But what will the rapidly tumbling cost of sequencing actually mean for medicine? “Well to start with, obviously it’s going to mean more people getting their genome sequenced,” says Michael Snyder, professor of genetics at Stanford University. “It'll be a lot more accessible to people.”
At the moment sequencing is mainly limited to certain cancer patients where it is used to inform treatment options, and individuals with undiagnosed illnesses. In the past, initiatives such as SeqFirst have attempted further widen access to genome sequencing based on growing amounts of research illustrating the potential benefits of the technology in healthcare. Several studies have found that nearly 12 percent of healthy people who have their genome sequenced, then discover they have a variant pointing to a heightened risk of developing a disease that can be monitored, treated or prevented.
“While whole genome sequencing is not yet widely used in the U.S., it has started to come into pediatric critical care settings such as newborn intensive care units,” says Professor Michael Bamshad, who heads the genetic medicine division in the University of Washington’s pediatrics department. “It is also being used more often in outpatient clinical genetics services, particularly when conventional testing fails to identify explanatory variants.”
But the cost of sequencing itself is only one part of the price tag. The subsequent clinical interpretation and genetic counselling services often come to several thousand dollars, a cost which insurers are not always willing to pay.
As a result, while Bamshad and others hope that the arrival of the $100 genome will create new opportunities to use genetic testing in innovative ways, the most immediate benefits are likely to come in the realm of research.
Bigger Data
There are numerous ways in which cheaper sequencing is likely to advance scientific research, for example the ability to collect data on much larger patient groups. This will be a major boon to scientists working on complex heterogeneous diseases such as schizophrenia or depression where there are many genes involved which all exert subtle effects, as well as substantial variance across the patient population. Bigger studies could help scientists identify subgroups of patients where the disease appears to be driven by similar gene variants, who can then be more precisely targeted with specific drugs.
If insurers can figure out the economics, Snyder even foresees a future where at a certain age, all of us can qualify for annual sequencing of our blood cells to search for early signs of cancer or the potential onset of other diseases like type 2 diabetes.
David Curtis, a genetics professor at University College London, says that scientists studying these illnesses have previously been forced to rely on genome-wide association studies which are limited because they only identify common gene variants. “We might see a significant increase in the number of large association studies using sequence data,” he says. “It would be far preferable to use this because it provides information about rare, potentially functional variants.”
Cheaper sequencing will also aid researchers working on diseases which have traditionally been underfunded. Bamshad cites cystic fibrosis, a condition which affects around 40,000 children and adults in the U.S., as one particularly pertinent example.
“Funds for gene discovery for rare diseases are very limited,” he says. “We’re one of three sites that did whole genome sequencing on 5,500 people with cystic fibrosis, but our statistical power is limited. A $100 genome would make it much more feasible to sequence everyone in the U.S. with cystic fibrosis and make it more likely that we discover novel risk factors and pathways influencing clinical outcomes.”
For progressive diseases that are more common like cancer and type 2 diabetes, as well as neurodegenerative conditions like multiple sclerosis and ALS, geneticists will be able to go even further and afford to sequence individual tumor cells or neurons at different time points. This will enable them to analyze how individual DNA modifications like methylation, change as the disease develops.
In the case of cancer, this could help scientists understand how tumors evolve to evade treatments. Within in a clinical setting, the ability to sequence not just one, but many different cells across a patient’s tumor could point to the combination of treatments which offer the best chance of eradicating the entire cancer.
“What happens at the moment with a solid tumor is you treat with one drug, and maybe 80 percent of that tumor is susceptible to that drug,” says Neil Ward, vice president and general manager in the EMEA region for genomics company PacBio. “But the other 20 percent of the tumor has already got mutations that make it resistant, which is probably why a lot of modern therapies extend life for sadly only a matter of months rather than curing, because they treat a big percentage of the tumor, but not the whole thing. So going forwards, I think that we will see genomics play a huge role in cancer treatments, through using multiple modalities to treat someone's cancer.”
If insurers can figure out the economics, Snyder even foresees a future where at a certain age, all of us can qualify for annual sequencing of our blood cells to search for early signs of cancer or the potential onset of other diseases like type 2 diabetes.
“There are companies already working on looking for cancer signatures in methylated DNA,” he says. “If it was determined that you had early stage cancer, pre-symptomatically, that could then be validated with targeted MRI, followed by surgery or chemotherapy. It makes a big difference catching cancer early. If there were signs of type 2 diabetes, you could start taking steps to mitigate your glucose rise, and possibly prevent it or at least delay the onset.”
This would already revolutionize the way we seek to prevent a whole range of illnesses, but others feel that the $100 genome could also usher in even more powerful and controversial preventative medicine schemes.
Newborn screening
In the eyes of Kári Stefánsson, the Icelandic neurologist who been a visionary for so many advances in the field of human genetics over the last 25 years, the falling cost of sequencing means it will be feasible to sequence the genomes of every baby born.
“We have recently done an analysis of genomes in Iceland and the UK Biobank, and in 4 percent of people you find mutations that lead to serious disease, that can be prevented or dealt with,” says Stefansson, CEO of deCODE genetics, a subsidiary of the pharmaceutical company Amgen. “This could transform our healthcare systems.”
As well as identifying newborns with rare diseases, this kind of genomic information could be used to compute a person’s risk score for developing chronic illnesses later in life. If for example, they have a higher than average risk of colon or breast cancer, they could be pre-emptively scheduled for annual colonoscopies or mammograms as soon as they hit adulthood.
To a limited extent, this is already happening. In the UK, Genomics England has launched the Newborn Genomes Programme, which plans to undertake whole-genome sequencing of up to 200,000 newborn babies, with the aim of enabling the early identification of rare genetic diseases.
"I have not had my own genome sequenced and I would not have wanted my parents to have agreed to this," Curtis says. "I don’t see that sequencing children for the sake of some vague, ill-defined benefits could ever be justifiable.”
However, some scientists feel that it is tricky to justify sequencing the genomes of apparently healthy babies, given the data privacy issues involved. They point out that we still know too little about the links which can be drawn between genetic information at birth, and risk of chronic illness later in life.
“I think there are very difficult ethical issues involved in sequencing children if there are no clear and immediate clinical benefits,” says Curtis. “They cannot consent to this process. I have not had my own genome sequenced and I would not have wanted my parents to have agreed to this. I don’t see that sequencing children for the sake of some vague, ill-defined benefits could ever be justifiable.”
Curtis points out that there are many inherent risks about this data being available. It may fall into the hands of insurance companies, and it could even be used by governments for surveillance purposes.
“Genetic sequence data is very useful indeed for forensic purposes. Its full potential has yet to be realized but identifying rare variants could provide a quick and easy way to find relatives of a perpetrator,” he says. “If large numbers of people had been sequenced in a healthcare system then it could be difficult for a future government to resist the temptation to use this as a resource to investigate serious crimes.”
While sequencing becoming more widely available will present difficult ethical and moral challenges, it will offer many benefits for society as a whole. Cheaper sequencing will help boost the diversity of genomic datasets which have traditionally been skewed towards individuals of white, European descent, meaning that much of the actionable medical information which has come out of these studies is not relevant to people of other ethnicities.
Ward predicts that in the coming years, the growing amount of genetic information will ultimately change the outcomes for many with rare, previously incurable illnesses.
“If you're the parent of a child that has a susceptible or a suspected rare genetic disease, their genome will get sequenced, and while sadly that doesn’t always lead to treatments, it’s building up a knowledge base so companies can spring up and target that niche of a disease,” he says. “As a result there’s a whole tidal wave of new therapies that are going to come to market over the next five years, as the genetic tools we have, mature and evolve.”
This article was first published by Leaps.org in October 2022.
The livestock trucks arrived all night. One after the other they backed up to the wood chute leading to a dusty corral and loosed their cargo — 580 head of cattle by the time the last truck pulled away at 3pm the next afternoon. Dan Probert, astride his horse, guided the cows to paddocks of pristine grassland stretching alongside the snow-peaked Wallowa Mountains. They’d spend the summer here grazing bunchgrass and clovers and biscuitroot. The scuffle of their hooves and nibbles of their teeth would mimic the elk, antelope and bison that are thought to have historically roamed this portion of northeastern Oregon’s Zumwalt Prairie, helping grasses grow and restoring health to the soil.
The cows weren’t Probert’s, although the fifth-generation rancher and one other member of the Carman Ranch Direct grass-fed beef collective also raise their own herds here for part of every year. But in spring, when the prairie is in bloom, Probert receives cattle from several other ranchers. As the grasses wither in October, the cows move on to graze fertile pastures throughout the Columbia Basin, which stretches across several Pacific Northwest states; some overwinter on a vegetable farm in central Washington, feeding on corn leaves and pea vines left behind after harvest.
Sharing land and other resources among farmers isn’t new. But research shows it may be increasingly relevant in a time of climatic upheaval, potentially influencing “farmers to adopt environmentally friendly practices and agricultural innovation,” according to a 2021 paper in the Journal of Economic Surveys. Farmers might share knowledge about reducing pesticide use, says Heather Frambach, a supply chain consultant who works with farmers in California and elsewhere. As a group they may better qualify for grants to monitor soil and water quality.
Most research around such practices applies to cooperatives, whose owner-members equally share governance and profits. But a collective like Carman Ranch’s — spearheaded by fourth-generation rancher Cory Carman, who purchases beef from eight other ranchers to sell under one “regeneratively” certified brand — shows when producers band together, they can achieve eco-benefits that would be elusive if they worked alone.
Vitamins and minerals in soil pass into plants through their roots, then into cattle as they graze, then back around as the cows walk around pooping.
Carman knows from experience. Taking over her family's land in 2003, she started selling grass-fed beef “because I really wanted to figure out how to not participate in the feedlot world, to have a healthier product. I didn't know how we were going to survive,” she says. Part of her land sits on a degraded portion of Zumwalt Prairie replete with invasive grasses; working to restore it, she thought, “What good does it do to kill myself trying to make this ranch more functional? If you want to make a difference, change has to be more than single entrepreneurs on single pieces of land. It has to happen at a community level.” The seeds of her collective were sown.
Raising 100 percent grass-fed beef requires land that’s got something for cows to graze in every season — which most collective members can’t access individually. So, they move cattle around their various parcels. It’s practical, but it also restores nutrient flows “to the way they used to move, from lowlands and canyons during the winter to higher-up places as the weather gets hot,” Carman says. Meaning, vitamins and minerals in soil pass into plants through their roots, then into cattle as they graze, then back around as the cows walk around pooping.
Cory Carman sells grass-fed beef, which requires land that’s got something for cows to graze in every season.
Courtesy Cory Carman
Each collective member has individual ecological goals: Carman brought in pigs to root out invasive grasses and help natives flourish. Probert also heads a more conventional grain-finished beef collective with 100 members, and their combined 6.5 million ranchland acres were eligible for a grant supporting climate-friendly practices, which compels them to improve soil and water health and biodiversity and make their product “as environmentally friendly as possible,” Probert says. The Washington veg farmer reduced tilling and pesticide use thanks to the ecoservices of visiting cows. Similarly, a conventional hay farmer near Carman has reduced his reliance on fertilizer by letting cattle graze the cover crops he plants on 80 acres.
Additionally, the collective must meet the regenerative standards promised on their label — another way in which they work together to achieve ecological goals. Says David LeZaks, formerly a senior fellow at finance-focused ecology nonprofit Croatan Institute, it’s hard for individual farmers to access monetary assistance. “But it's easier to get financing flowing when you increase the scale with cooperatives or collectives,” he says. “This supports producers in ways that can lead to better outcomes on the landscape.”
New, smaller scale farmers might gain the most from collective and cooperative models.
For example, it can help them minimize waste by using more of an animal, something our frugal ancestors excelled at. Small-scale beef producers normally throw out hides; Thousand Hills’ 50 regenerative beef producers together have enough to sell to Timberland to make carbon-neutral leather. In another example, working collectively resulted in the support of more diverse farms: Meadowlark Community Mill in Wisconsin went from working with one wheat grower, to sourcing from several organic wheat growers marketing flour under one premium brand.
Another example shows how these collaborations can foster greater equity, among other benefits: The Federation of Southern Cooperatives has a mission to support Black farmers as they build community health. It owns several hundred forest acres in Alabama, where it teaches members to steward their own forest land and use it to grow food — one member coop raises goats to graze forest debris and produce milk. Adding the combined acres of member forest land to the Federation’s, the group qualified for a federal conservation grant that will keep this resource available for food production, and community environmental and mental health benefits. “That's the value-add of the collective land-owner structure,” says Dãnia Davy, director of land retention and advocacy.
New, smaller scale farmers might gain the most from collective and cooperative models, says Jordan Treakle, national program coordinator of the National Family Farm Coalition (NFFC). Many of them enter farming specifically to raise healthy food in healthy ways — with organic production, or livestock for soil fertility. With land, equipment and labor prohibitively expensive, farming collectively allows shared costs and risk that buy farmers the time necessary to “build soil fertility and become competitive” in the marketplace, Treakle says. Just keeping them in business is an eco-win; when small farms fail, they tend to get sold for development or absorbed into less-diversified operations, so the effects of their success can “reverberate through the entire local economy.”
Frambach, the supply chain consultant, has been experimenting with what she calls “collaborative crop planning,” where she helps farmers strategize what they’ll plant as a group. “A lot of them grow based on what they hear their neighbor is going to do, and that causes really poor outcomes,” she says. “Nobody replanted cauliflower after the [atmospheric rivers in California] this year and now there's a huge shortage of cauliflower.” A group plan can avoid the under-planting that causes farmers to lose out on revenue.
It helps avoid overplanted crops, too, which small farmers might have to plow under or compost. Larger farmers, conversely, can sell surplus produce into the upcycling market — to Matriark Foods, for example, which turns it into value-add products like pasta sauce for companies like Sysco that supply institutional kitchens at colleges and hospitals. Frambach and Anna Hammond, Matriark’s CEO, want to collectivize smaller farmers so that they can sell to the likes of Matriark and “not lose an incredible amount of income,” Hammond says.
Ultimately, farming is fraught with challenges and even collectivizing doesn’t guarantee that farms will stay in business. But with agriculture accounting for almost 30 percent of greenhouse gas emissions globally, there's an “urgent” need to shift farming practices to more environmentally sustainable models, as well as a “demand in the marketplace for it,” says NFFC’s Treakle. “The growth of cooperative and collective farming can be a huge, huge boon for the ecological integrity of the system.”