Every field in science has a day when the anticipation of a major announcement fills the air with a palpable energy. For those in the know, it’s the kind of optimistic excitement that makes the whole world delightful. Colors seem brighter, passersby seem kinder, and there’s a musicality to the normal bustle of life—all because after years of painstaking, unrecognized research, finally there are results to present that could change the world.
For genetics, one such day was 16 years ago. The Human Genome Project, an international initiative led by the US National Institutes of Health and the Department of Energy to sequence the entire human genome, was nearly complete after 13 years, two years ahead of schedule (paywall) and under budget—a rarity in science.
It was April 15, 2003, and scientists thought that with this new map of each and every base pair of human DNA, they would be able to pinpoint the exact origin of medical conditions, physical traits, and even certain behavioral patterns. Health care providers could finally discard their “one-size-fits-all” approach and adopt personalized medicine, giving patients treatment or preventative measures as unique as their genomes.
Yet a decade and a half later, the majority of people have yet to see the benefits of human-genome sequencing. Although there are now some forms of personalized medicine available, like CAR-T therapy for certain types of cancer, they’re expensive and not yet applicable—or accessible—to everyone. It turns out that genome sequencing told us a lot about the structure of human DNA, but, at least so far, far less about humans.
In the meantime, consumers grew impatient. The pomp and circumstance around the 2003 announcement had promised that a wealth of knowledge locked inside their cells could reveal secrets about their health and family history.
A new market emerged to fill the void. Direct-to-consumer (DTC) genetic testing companies now offer to read our genes like tea leaves, to tell us about our ancestry, health risks, and even what types of wine we’d most enjoy. Although they claim to be backed by the power of objective science, in reality, the information our DNA can give us is largely still inconclusive.
Their rise was slow and unremarkable at first. The earliest DTC genetic-testing company was launched in 1996, before most people were paying much attention to genetics. University Diagnostics was a small, mail-order company based in the UK (and largely funded by University College London), which promised to assess whether or not customers carried the genetic mutations responsible for cystic fibrosis. It advertised in Cosmopolitan.
Simultaneously in the US, the company Genetics and IVF Institute began to offer screenings for mutations on certain genes, called BRCA1/2, which scientists had identified as markers that put a person at high risk of developing breast and ovarian cancer. It quietly started putting ads in newspapers. The Virginia-based firm was forced to quit issuing these tests when a clinical testing company called Myriad Genetics patented the gene in May 1998, and issued it a cease-and-desist letter. (Genetics and IVF Institute still exists, but focuses on fertility services.)
Things sped up around the turn of the century. In 2000, FamilyTreeDNA, based in Houston, Texas, became the first company to sell DNA tests that would purportedly help users trace their genetic ancestry and find family members online. In 2001, the UK-based company Sciona started selling genetic tests it said could tell customers what they should eat based on their DNA—a use of genetics that didn’t and still doesn’t have reliable data behind it.
And by 2002, the genealogical website Ancestry.com launched its first iteration of AncestryDNA, which would grow into what is today the world’s largest DTC genetic-testing service.
Now, the International Society of Genetic Genealogy states that there are 32 DTC genetic testing companies that will provide some kind of DNA reading to willing customers.
23andMe, perhaps the biggest household name of these, launched in 2006 and came into the public eye in 2007 with a slew of promotional “spit parties”—swanky, promotional cocktail parties where wealthy guests were encouraged to hack up gobs of spit to be tested by the company. At the time, tests were $999 each, and included 14 reports, 10 of which were related to health, including risks of developing age-related macular degeneration and celiac disease. Some could also report on wellness traits, like eye color. (The New York Times reported (paywall) that at one of the New York parties, Harvey Weinstein, Ivanka Trump, and Rupert Murdoch were all in attendance.)
However, it did so without the oversight of the customers’ health care providers, and without approval from the US Food and Drug Administration (FDA).
In late 2013, the FDA sent the company cease-and-desist letters forbidding it to continue providing customers health information. (23andMe was still permitted to run tests unrelated to health.) In 2015, the FDA granted 23andMe permission to provide information to consumers about whether or not they had certain disease-causing mutations that could be passed down to their children, starting with Bloom Syndrome. By 2017, the company was cleared to offer its 10 health reports once more. This time, however, it was required to include a clear disclaimer saying that nothing the company said should be taken as actual medical advice. (As of this year, 23andMe can offer an 11th health test assessing genetic risk of developing type II diabetes.)
Even after 23andMe’s misstep with regulatory authorities, DTC genetic testing has exploded.
By 2024, the total market is expected to be worth more than $2.5 billion globally (pdf). Some 26 million people have already taken some kind of genetic test, and that figure is expected to rise to 100 million in the next two years. In addition to the giants like 23andMe and AncestryDNA, there are third-party databases, like GEDmatch.com, that let people upload their genetic data from other companies and use tools. Most of these are free and cast a wider net to find family members, explore more differences on chromosomes, or even test if their parents are (unbeknownst to them) related.
BY THE DIGITS
26: millions of people in the US who have taken a DTC genetic test
32: the number of DTC genetic tests currently on the market
$19.95: the cheapest DTC genetic test on the market, from Nebula, which will sequence your entire genome (requires $6.99/month subscription)
11: number of health condition risks 23andMe can test for
BACK TO SCHOOL
The basics of genetic science
To understand the DTC genetic-testing industry, we’ll have to take a brief walk back to 10th-grade biology class to talk about genetics. (Don’t worry, it’ll be relatively painless.)
If your body were a house, your genome would be the architectural blueprint. Instead of drawings, though, our genome is made of DNA—long, winding molecules made from chains of four types of proteins (adenine, thymine, cytosine, and guanine) encased in a spine made of sugar. Each protein has an opposite mate (A goes with T; C goes with G) to give it the appearance of a tiny, twisted biological ladder. These coupled proteins make up base pairs. Hundreds to millions of base pairs make up a single gene, which scientists call the “functional unit of heredity” because they each have a job (though many are still unknown). The order of base pairs within a gene dictate exactly how it works. In total, we have roughly 6 billion base pairs, stored mostly on 46 chromosomes (23 from mom and 23 from dad) and a little bit in the mitochondria of our bodies’ cells.
We have roughly 25,000 genes that provide the instructions for specific tasks, like telling cells when to grow and reproduce and when to produce certain proteins. Then there are large swaths of DNA that don’t seem to code for anything specifically, but do appear to influence things like our height, and skin and eye color.
Every cell in your body—with the notable exception of reproductive cells—has all of your DNA in it. Different types of cells reference different sections of your genome. With apologies for the mixed metaphor, it’s as though your genome were a cookbook, and the different types of cells have it open to different pages, each showing a unique recipe for, say, how to make skin cells, heart cells, blood cells, and so forth.
For the most part, every human has roughly the same genetic blueprint: The differences among us come from a small subset of variations on about 0.1% of our DNA in total. In other words, we all basically live in the same house, where the variations are essentially the equivalent of having different shower faucets or cabinet handles. (Other factors, like the air we breathe, the food we eat, and even how our parents lived can also account for some of our variability.)
However, these small differences are responsible for the vast kaleidoscope of humanity.
How companies read our DNA
Because each of our cells contain all our DNA, it’s fairly simple for companies or scientists to collect DNA to analyze. All it takes is a simple swab of the cheek to collect a saliva sample.
In the medical context, physicians have figured out how to read our bodily blueprints, usually with the goal of assessing the risk of certain heritable conditions like Huntington’s disease, or diagnosing a rare genetic disease. Physicians or genetic counselors will order this kind of testing when a person is already sick, or knows that they have a family history of a rare condition. Depending on what health care providers are looking for, they may take readings on the whole genome, all protein-coding genes, or just parts of a chromosome or gene. Major hospitals tend to have their own labs that do in-house genetic testing, and there are also companies like LabCorp, headquartered in North Carolina, and Myriad Genetics, headquartered in Utah, that also perform tests for medical institutions.
DTC genetic tests are much more accessible and affordable, but they also do a lot less than medical-grade genetic testing.
Commercial companies can test DNA in a variety of ways, depending on what the goal is. They can look at entire genomic data, but this is expensive—usually costing around $1,000, whereas the other tests typically cost a few hundred dollars. They can also look at mitochondrial DNA, or mtDNA (passed down directly from mothers with little variation) to track maternal lineage, and Y-chromosome DNA (passed down from fathers) to trace paternal lineage. This is what most companies used in the early days of DTC genetic tests.
Today, genotyping is one of the most common ways to test DNA; rather than looking at the entire genome, a company will look for specific mutations on specific chromosomes. This is called autosomal testing, and it’s the equivalent of a plumber coming to inspect your genetic home, but only looking at the pipes below the sink in the upstairs bathroom.
THE MAJOR PLAYERS
Headquarters: Houston, Texas
Testing type: Autosomal (22 chromosomes), Y chromosome, and mtDNA genotyping to estimate ancestry and find family members
Cost: $59 for “family finder” (autosomal DNA testing) services. Starting prices increase to $129 for Y-chromosome DNA and $149 for mtDNA, and increase further with higher levels of specificity.
Founded: 2002 (predecessor Ancestry.com was created in 1983)
Headquarters: Lehi, Utah
Testing type: Autosomal (22 chromosomes) genotyping to estimate ancestry, find family members, and provide information on benign traits, like earwax type or tolerance for cilantro
Cost: $99 for basic package
Headquarters: Washington, DC
Testing type: Y-chromosome and mtDNA sequencing to trace lineage
Cost: $329 for basic package
Headquarters: Mountain View, California
Testing type: Autosomal (22 chromosome) genotyping for ancestry, health, and wellness variants. Health assessments include some mutations on BRCA1/2 genes, which can increase risk for breast or ovarian cancer, and mutations that elevate risks for developing macular degeneration, late-onset Alzheimer’s, and Parkinson’s disease. (The company is also cleared by government regulators to release information on pharmacogenomics, or reports about which drugs may work better or worse for customers based on their genes, but they don’t offer these reports yet.)
Cost: $99 for ancestral and family finding; $199 for ancestry, family finding, health, wellness.
Headquarters: Burlingame, California
Testing type: Genotyping 60 genes related specifically to heart disease and cancer risk, 14 genes related to pharmacogenomics, and an unspecified number of genes for wellness traits. Provides health care provider for approval and interpretations of data.
Headquarters: Danvers, Massachusetts
Testing type: Whole-genome sequencing for health risks, carriers statuses, and pharmacogenomics. Provides health care provider for approval and interpretations of data.
Headquarters: Tel Aviv, Israel (formerly Vancouver, Canada)
Testing type: Genotyping to look for 28 health and wellness conditions, including alopecia, Lupus, and late-onset Alzheimer’s
Headquarters: San Carlos, California
Testing type: Sequencing of 22,000 genes (nearly all), for a variety of analyses including health, wellness, and ancestry testing
Cost: Starter tests are $80; customers can choose others on Helix’s web store for additional costs
Headquarters: San Francisco, California
Testing type: Whole-genome sequencing, for wellness and ancestry traits.
Cost: $19.95, plus $6.99 per month billed annually
Reading the future—of your health
When most people think of their genetics, they think of the ways that genes can influence health.
Currently, 23andMe is the only US-based true DTC genetic testing company (that is to say, no physician of any kind is involved in the process) cleared by government regulators to sell any information about condition risks directly to consumers without the guidance of a medical professional. The FDA has approved 23andMe to sell 11 different genetic risk tests, including assessments for Alzheimer’s, Parkinson’s, age-related macular degeneration, celiac disease, and type 2 diabetes. They can also screen for more than 40 harmful mutations that could be passed down to children. (Globally, there is one other company with similar regulatory approval: Futura Genetics, based in Israel, which has clearance from the European Medicines Agency.)
The goal of these tests, says Emily Drabant Conley, 23andMe’s vice president of business development, is to put customers in a position to make decisions about their health. “You are now empowered and educated,” she says. “You have choices.”
Genetic tests can identify a handful of illnesses with certainty. For example, anyone with one of three specific, single-nucleotide mutations will inevitably develop dominantly inherited Alzheimer’s, a rare version of the neurodegenerative disease.
The FDA has told 23andMe that it isn’t allowed to market its test results as actual medical advice. The FDA has given 23andMe approval to market its genetic health risk tests on the basis that they are accurate and considered to be low-to-moderate risk to customers (the risks being misinformation: false-positive or false-negative results). In April 2017, when the FDA announced this approval, the agency specified that it was not approving any “diagnostic” tests. So 23andMe can’t legally offer tests for dominantly inherited Alzheimer’s, even if it has the technical capability. It can, however, offer tests for things like “having a high risk of developing breast cancer” because this is not a true diagnostic test—even if your 23andMe test came back saying you have a mutation putting you at high risk of developing breast cancer, you’d have to visit your health care provider to confirm those risks. Presumably, you’d have to take a further, medical-grade genetic test, and you’d have to pay for it like any other medical procedure—either through insurance or out of pocket.
23andMe also doesn’t provide an entirely comprehensive picture of health risks, either. Your 23andMe results may say you have no genetic risk factors for one of the 11 conditions it tests for, but that is not synonymous with immunity. When looking at BRCA variants, for example, 23andMe tests for three known mutations on two genes that put a user at a much higher risk of developing breast cancer than the general population. (These mutations almost always occur in people of Ashkenazi Jewish descent—which is to say, not the general population.) However, there are more than a thousand possible mutations on the BRCA gene that could lead to cancer later in life—or may be perfectly harmless—explains Erica Ramos, a genetic counselor at Geisinger National Precision Health, a hospital system based in Maryland.
The tests 23andMe and its competitors offer are certainly cheaper than genetic counseling, which can cost thousands of dollars. (If testing is recommended by a health care provider based on symptoms, or family history of a particular condition, insurance plans usually pay. But not everyone wants their insurance companies to know they’ve taken genetic health risks tests for fear of discrimination—more on that later.) But an at-home genetic test is never comprehensive enough in and of itself to say anything definitive about a person’s health.
Some DTC companies have physicians on staff, and their services can come close to what you’d get from a genetic counselor. Veritas Genetics and Color Genomics, which are based in Massachusetts and California respectively, for example, provide (and pay for as part of the service) physicians or genetic counselors to go over your results with you.
Helix, a California-based company, sells an $80 starter package that provides basic ancestry and wellness information. It also partners with other companies that provide tests to assess genetic health risks. These companies, which include well-respected institutions like Mayo Clinic, offer packages that include a review and assistance from physicians and genetic counselors. At a minimum, they cost $159.99.
Besides these health reports, Helix offers a range of wellness and “entertainment” DNA reports. Like its health tests, these are provided by different companies and offered on a website like an app store, but they tend to be more scientifically dubious. For example, the weight-loss app Lose It sells, through Helix, a test called “embodyDNA,” which ostensibly helps users optimize their diet based on their genetics. Helix also sells tests that promise to tell you your ideal workout regime, what type of wine you should purchase, or what your child may look like—all based on your genetics. Eric Topol, a cardiologist at Scripps Research Institute in California, has referred to these tests as “bogus data.” In an opinion piece published in the journal Clinical Chemistry, he and co-author Emily Spencer wrote that “current scientific knowledge does not support the use of DTC genetic testing to inform fitness at this time.” Genetics-based wine and meal recommendations also lack scientific evidence to back them up.
Reading the past
Some people, however, don’t care what their genes tell them about their future at all. They look at DTC genetic tests as a way to see into the past—to sew together missing parts of their family quilt. Here, too, there are plenty of caveats to the promises of test providers.
Your DNA comes from your parents. They got theirs from your grandparents, and so on back over thousands of years. Additionally, everyone gets mtDNA directly from their mothers, and people who have Y chromosomes get them directly from their fathers. This means that you and your immediate family members—siblings and parents—have about half of the same DNA. You share less DNA with the leaves of your family tree farther away from you, but it’s still possible to identify at least some things about these distant family members through bits of genetic data.
FamilyTreeDNA launched in 2000 with the mission to help customers identify family members they never knew they had. It offers the most extensive services, with autosomal DNA, as well as mtDNA and Y-chromosome testing. (It doesn’t sequence the entire Y chromosome; instead, it looks for repeating patterns that act as unique identifiers. The basic package looks for 37 of these sequences, and the most expensive looks for 700.) AncestryDNA does mtDNA testing, and some genotyping on the Y chromosome, while 23andMe only tests for mtDNA.
Mitochondrial and Y-chromosome DNA don’t mutate much over time; its fairly easy to trace maternal and paternal lineage through these tests (people without Y chromosomes can ask siblings or fathers who do have them to confirm paternal lineage). Autosomal DNA testing can help find either previously unknown or distant family members, although the more distant the potential relative, the more genealogy—the process of tracing family history through documents and interviews—will be needed to confirm the relationship.
In addition to finding family members, many companies have also expanded into testing for “genetic ancestry.” Here, the science gets dicier.
Although every human’s DNA is nearly the same, there are still some differences between individuals. DNA inevitably mutates over time. When these mutations are benign, they get passed down from generation to generation without causing any problems. Theoretically, DTC genetic testing can find which of these mutations, or “variations,” you have, and, in some cases, connect them to specific populations in which that same variation is more common than it is among humankind as a whole.
The biggest problem with this approach is that there are no genes or mutations that can identify anything specific about an individual’s heritage. Instead, companies collect information from people who know their heritage, then take your genetic data and compare a handful of your variants present with the variants present in these known populations.
That’s a bit hard to parse, but here’s an example to help clarify: If you get a reading that says you are 2% Polynesian, what it really means is that 2% of the variants a company tested—usually about 700,000 mutations across some 3 billion base pairs, or less than 1% of human DNA—match up with variants known to be present in people who have self-reported as having Polynesian heritage.
Or rather, as having ancestry from the region that is today known as “Polynesia”—DTC genetic tests don’t (and can’t) factor in changes in geopolitical borders.
Each testing company uses proprietary algorithms, based on their own databases of reference genomes, to come up with these ancestry profiles. That’s why different companies can give the same person different ancestral results, and why sometimes genetic tests will tell people who know their family history totally different stories.
AncestryDNA, which has the largest customer base today, offers genetic ancestry estimates from more than 380 regions, and reportedly works from a reference database of over 16,000 users. 23andMe can estimate among 1,000 populations using a reference database it says comes from over 10,000 users. At the moment, most companies have more data on those of European descent than from any other ancestral background, which means people of color may have even less accurate results than those whose forebears were from what is now Europe.
Even if each company had a comprehensive set of reference genomes to work with, there would still be problems with the testing itself. DNA is miniscule, and working with anything so small entails uncertainties and mistakes, which is why it’s possible for the same testing company to give a set of identical twins—who should have exactly the same DNA—slightly different ancestral results.
The big DNA lie
Ads for genetic ancestry tests (and tourism) often promote the concept that heritage is a key part of a person’s present identity, and tout the notion that finding hidden identities could change your hobbies or where you would want to vacation. They also tend to perpetuate the idea that, once we figure out that all of us have DNA from a variety of places across the globe, negative attitudes toward race—which is often conflated with ancestry—will die. Ideally, when we all learn that we are all a mix of ancestries, we will finally realize that no one has only one ancestry, and that all ancestries are equal.
This couldn’t be farther from the truth.
Genetic testing for ancestry hasn’t been around that long, but early research suggests (paywall) that the more people are exposed to the idea of ancestry testing, the more they will believe there are biological differences in people of different ancestries. (There are not—remember, we all share roughly 99.9% of the same DNA.) When a test suggests it’s possible to be 32% anything, it implies it’s possible to be 100% of that thing—a proposition disconcertingly similar to the sort of “racial purity” rhetoric espoused by racist ideologies throughout history.
Plus, simply having DNA statistically correlated to particular culture has nothing to do with actually being a part of it. For years, Elizabeth Warren, the Democratic senator from Massachusetts and current US presidential candidate, has stated she had a Native American relative—specifically, Cherokee. In 2018, caving to the provocations of president Donald Trump, she had her DNA analyzed by a private laboratory directed by a Stanford geneticist, and found out that she likely had Native American ancestors six to 10 generations ago. (She couldn’t learn whether or not these possible ancestors were Cherokee, as DNA tests cannot currently identify specific tribes when looking for indigenous ancestry.)
Warren hadn’t lied—her tests showed that she had a relative who was likely Native American. But representatives from the Cherokee Nation were outraged. Warren made “a mockery out of DNA tests and its legitimate uses while also dishonoring legitimate tribal governments and their citizens, whose ancestors are well-documented and heritage is proven,” Chuck Hoskin Jr., the Cherokee National Secretary of State, wrote in a statement at the time.
Although requirements for membership vary from tribe to tribe, almost all require known lineage to the tribe itself, plus some measure of cultural connections, like speaking the language. A handful of genetic markers alone can’t determine Native American identity. By taking a genetic ancestry test to prove she had Native relatives, Warren undermined a far more complex form of identity.
Yet advertisements for genetic ancestry tests made in poor taste do imply that our DNA plays a major role in our cultural identities, and that some people may want to change their behavior based on their results. Wendy Roth, a sociologist at the University of British Columbia, has found that most people won’t. Those who do usually do so when their tests offer a new identity they believe A) others will accept, and B) will benefit them in some way. In practice, that means most who do this are white people adopting a minority ancestry. Last year, for example, a Caucasian man in Seattle claimed status as a person of color—and requested admission to a professional group specifically for minorities—based on a DNA test that said 4% of his genes were sub-Saharan African.
This isn’t to say that all ancestry testing is bad. Consider, for example, descendants of slaves who may not have detailed records of their biological family trees. The DC-based company African Ancestry, founded in 2003, boasts the largest reference database of all kinds of African mtDNA and Y-chromosome DNA. Tests using these genetic markers can provide black Americans with African ancestry specific information about the countries and ethnic groups their ancestors lived in before they were kidnapped for the transatlantic slave trade.
Additionally, many genetic testing companies offer users the option of having their DNA compared to existing databases in order to find living family members—even those who are unknown or missing. Customers can only find family matches if their relatives also happen to have taken an ancestry test with the same company, but there are open-access databases that allow users to upload their genetic information. One of the most popular is GEDmatch, which, by some estimates, can boast of being able to connect roughly 60% of people in the US of European descent (paywall) with at least one identifiable relative in its database.
There are countless heartwarming stories of people finding long-lost relatives through DTC ancestry testing services. But there are just as many stories about people accidentally unearthing uncomfortable family secrets: infidelities or sperm donors who wished to remain anonymous, to name a couple of examples.
Libraries for law enforcement
Similarly, the use of genetic databases by law enforcement can be simultaneously miraculous and a sci-fi privacy nightmare.
Law enforcement has been using some forms of genetic databases for two decades. In 1998, the US Federal Bureau of Investigations began using the Combined DNA Index System (CODIS), which keeps genetic material collected from individuals who have either been arrested or convicted of a crime (not all interactions with police result in a genetic sample being taken). CODIS keeps limited records of genetic information on 20 locations on the human genome known to contain short bits of DNA that vary from person to person. These records act sort of like a genetic fingerprint. There are roughly 18 million people in CODIS in the US as of February 2019, and it’s worth noting that the system is biased: it contains a disproportionate number of people of color, reflecting the bias of the criminal justice system.
It’s also not exhaustive. Even with the help of CODIS, lots of crimes remain unsolved for years because DNA at the crime scene doesn’t match any in the database.
In 2018, US law enforcement started using genetic information from public and private databases to solve violent crimes that have otherwise gone cold. The most famous example was when, roughly a year ago, police used a genetic profile uploaded to GEDmatch to finally identify the Golden State Killer, who committed some 50 rapes and 12 murders over decades in southern California.
In the US, it’s perfectly legal for law enforcement agents to look through public genetic databases without asking. It’s also legal—and fairly easy—for them to ask private companies for access to their databases if they believe it will help solve a crime. They would just need a subpoena or court order.
Most major companies have not yet cooperated with law enforcement—or at least, haven’t publicly admitted it. In early 2019, FamilyTreeDNA became the first major DTC genetic-testing firm to do so, confirming that it had been quietly working with the FBI to solve violent crimes. FamilyTreeDNA customers can now opt out of sharing their genetic material with law enforcement, but they’re still highly encouraged to participate. Speaking to BuzzFeed in January 2019, FamilyTreeDNA CEO Bennett Greenspan said, “we came to the conclusion that if law enforcement created accounts, with the same level of access to the database as the standard FamilyTreeDNA user, they would not be violating user privacy and confidentiality.”
There are other reasons to be concerned about privacy. The Genetic Information Nondiscrimination Act (GINA) of 2008 makes it illegal for health insurance companies and employers to make decisions based on a person’s genetic information, but the law doesn’t apply to any other scenario, like life, long-term care, or disability insurance. You’re not required to disclose anything you learn about yourself through a genetic test to insurance companies, but those firms can void your policy if they find you’ve omitted any relevant information. In 2016, a 36-year-old US woman was denied life insurance because she had a BRCA1 mutation, as well as a family history of breast cancer. The same year, a boy who tested positive for genetic markers related to cystic fibrosis was expelled from school even though he didn’t have the condition. People living with cystic fibrosis need some degree of separation from others with the same condition, because they risk causing one another dangerous infections. The fear was that he would put the two other students with cystic fibrosis at risk of developing such an infection, even without the disease. School authorities allowed the child to return to class a few weeks later when they realized he wasn’t a threat to other students.
And even though genetic discrimination is illegal, it may still happen. Just because murder is illegal doesn’t mean that it’s been eradicated. Between 2010 and 2018, there were more than 2,000 GINA lawsuits filed with the US Equal Employment Opportunity Commission.
The first time a company was penalized for violating GINA was the result of a rogue pooper—or “devious defecator,” as the judge on the case, Amy Totenberg, referred to the criminal informally. In 2012, the Atlanta, Georgia-based grocery distributors Atlas Logistics Group Retail Services asked two employees to have their cheeks swabbed to see if their DNA matched human feces it was routinely finding in its warehouses. The tests were negative, and a year later, the men sued their employer for “pain, suffering, and mental anguish,” according to Reuters. The case went to trial, and the jury awarded the plaintiffs $2.2 million for their trouble.
The Gene-y is out of the bottle
It’s alluring to think that our future has been hiding in our cells this whole time and is now, finally, readable. The former, at least, might still be the case. One day, it could be common practice to use our genomes in all aspects of our health care. But in order for research to get there, scientists need access to millions more genomes and time to analyze them all. If there were more data on genes and genetic networks associated with more health outcomes in more diverse populations, genetics could make the dream of personalized medicines and treatments come true.
But, right now, genetic testing is still in its infancy, and many claims about what it can do for individual health and wellbeing are overblown.
That’s why the majority of the money to be made in the DTC genetic-testing space today isn’t in single-customer purchases; it’s in selling customer data in bulk to research institutions or pharmaceutical companies.
Of the major companies in the DTC testing space, 23andMe has been the most vocal about its research aspirations. Customers who use 23andMe can opt-in to be a part of the company’s in-house research program, which includes partnerships with drug companies like GlaxoSmithKline and Genentech to develop drugs targeting specific genetic profiles.
Nebula, a relatively new DTC genetic-testing company, leans into this reality: it’s premised on the idea that if a customer’s genetic information is valuable to others, customers should get a commission. Co-founded by George Church, a geneticist and chemist at Harvard University, it offers whole genome sequencing for just under $19.95 plus a monthly fee of $6.99 renewed annually—a tenth of the price of what it normally costs. You can access and use your own genetic information any way you like, but Nebula also encrypts and uploads your genome to a blockchain. Then, you have the option of completing a survey about your phenotype—your physical traits—after which companies and research institutions can request access to your genetic data for research. You and a third party agree to a price, and the blockchain keeps a record of sales. Nebula makes money by taking a percentage of the transaction.
We want genetic testing to be used like a cellular crystal ball, telling us where we’re from and what will happen to our bodies over time. The demand for these tests isn’t slowing down, and is today likely only a fraction of what it will be in five to 10 years, when, presumably, DTC genetic tests will be far more insightful and accurate than they are now.
There’s nothing wrong with the curiosity driving that demand. In fact, it’s a great thing—any kind of tool that generates interest in science and helps people understand their bodies is probably more good than bad. At their best, these tests can help someone piece together their family histories, identify long-lost family members, and even empower users to talk to their doctors about their health. At their worst, though, providers of genetic tests prey on curiosity and fear the same way so many snake-oil salesmen have in the past.
Correction: A previous version of this article inaccurately stated that physicians and genetic counselors who review Helix customer requests for genetic tests are paid based on whether or not a customer takes those tests. In fact, according to a company spokesperson, these physicians and genetic counselors are paid by review, regardless of whether or not a customer ends up taking a test.