LEHI — Lynn Schwiebert was 67-years-old when she decided to figure out who she really was.
She had spent years tracing her lineage back multiple generations. Then she took an Ancestry DNA test.
“My research showed I was 100 percent British,” said Schwiebert, now 70, who stood and shared her story in February at this year’s RootsTech conference, an annual gathering for genealogy buffs held in Salt Lake City. “I wanted to prove that I was right.”
What Schwiebert, who lives in Osceola, Wisconsin, expected was the story of Ancestry DNA testing most of us are familiar with. A customer spits in a tube, puts it in the mail, and a few weeks later they get a friendly pie chart and colorful map that highlights the regions of the world their ancestors most likely came from.
For the majority of users, the novelty ends there. But for Schwiebert, the test ended up revealing a series of uncomfortable truths.
When Schwiebert found out she was actually 20 percent Eastern European, the incongruity led her to discover that her father was not really her father. A relative match on Ancestry.com eventually connected Schwiebert to her biological dad.
When Schwiebert confronted her mother and siblings about the truth, they disowned her.
“It was shattering,” said Schwiebert. “It was like a death.”
CeCe Moore, genetic genealogist and founder of DNA Detectives, said that close to 10 percent of the people she works with who take DNA tests to learn about their ancestry or genetic makeup end up discovering a non-paternal event, meaning the test reveals they have a different father. Studies show that anywhere from 1 percent to 10 percent of people have misattributed paternity, she said.
In some ways, Schwiebert’s story is a microcosm of what Ancestry has become. For more than 30 years, the company has connected customers to information about their ancestors. But with the introduction of autosomal DNA testing (which gleans information from both maternal and paternal lines) in 2012, Ancestry has tapped into a burgeoning science that can reveal much more, including information people don’t want to know.
A darling of Utah’s Silicon Slopes community, Ancestry began in Provo in 1997 when two BYU grads, who started selling the scriptures of The Church of Jesus Christ of Latter-day Saints on floppy disks, bought a genealogy publishing company. They never imagined it would become what it is today. With millions of customers and billions of records, Ancestry is the largest for-profit genealogy company in the world and last year had an estimated value of more than $3 billion, according to Bloomberg.
The direct-to-consumer DNA testing industry, of which Ancestry is a part, has changed the way the world works, says Laura Hercher, director of genetics research at Sarah Lawrence College. Closed adoptions and private sperm or egg donations are no longer realistic, she said, and family secrets about teenage pregnancies, infidelity and illegitimate children cannot be easily hidden. Even if you don’t submit a saliva sample yourself, a relative’s DNA could uncover secrets that involve you.
“In this field, privacy is a uniquely challenging problem because DNA is familial. When you put it out there, you are putting it out there on behalf of your family,” said Hercher.
But privacy concerns go way beyond uncovering family secrets. With the massive trove of DNA Ancestry now holds (close to 10 million samples), some experts such as Marcy Darnovsky, executive director of the Center for Genetics and Society based in Berkeley, California, worry user data could be leaked, hacked or misused by law enforcement. Recently, police used an open source site called GEDmatch (which allows users to upload and compare DNA data from sites like Ancestry) to identify a serial murderer known as the Golden State killer.
Others are concerned that if DNA data gets out, it could result in discrimination based on disease markers or ethnic background that could impact a person’s insurance options and employment opportunities.
“Right now, Ancestry is doing this kind of information collection. It’s just looked at as fun, and maybe that's fine. But people in my field have to raise the red flags,” said Karen Rothenberg, a professor of law at the University of Maryland and an expert in bioethics. “It has the potential to be harmful. So maybe we should be a little bit more thoughtful before we decide to play this game.”
The potential applications for DNA science are wide-ranging — Ancestry’s research partners are helping it study longevity and human migration patterns, while 23andMe, a genomic and biotech company based in Mountain View, California, is exploring genetic links to diseases that could lead to better treatments.
Gene editing technology and gene therapies that can correct flaws in a living person’s DNA are rapidly developing. Scientists have already genetically modified farm animals to create cows without horns and pigs without tails, and rich people can clone their pets. Experts from the Center for Genetics and Society say gene editing and cloning for humans may not be far off.
Will DNA be used to unlock cures to diseases and help people live longer, healthier lives? Or will it be used to manipulate nature in dangerous ways and to create lists of desirable and undesirable genes that further divide society?
Perhaps both outcomes are possible.
From a BYU apartment to the cutting edge of DNA science
Ancestry.com’s beginnings trace back to 1990 when two BYU grads, Paul Allen and Dan Taggart, formed a company called Infobases that specialized in digitizing LDS publications.
At the start, Allen, Taggart and their wives sat around a box of floppy disks in Allen’s BYU apartment. The disks, which contained all the LDS Church scriptures, were the company's first product. The four-member production team methodically placed homemade labels on the disks, which came in sets of 10, and then loaded them into Allen’s Chevy Cavalier to be delivered to nearby computer and bookstores.
Infobases quickly moved from selling floppy disks to selling CD-ROMs with expanded product offerings.
According to Allen’s business partner, Brad Pelo, Infobases was early in recognizing the value of digital publishing rights at a time when few perceived the utility of online documents. And so, for a low price, Infobases was able to obtain the digital rights to LDS publications, including scriptures, Deseret Book’s library and the Deseret News, Pelo said.
“When people thought about reading a book on a computer, that was sitting in front of a glowing green phosphorus screen. They would never believe that someone would rather read on a screen than a book,” said Pelo.
In 1995, Infobases released its first genealogy product: the LDS Family History Suite. It included family tree software and a collection of LDS pioneer journals and vital records. The product was wildly popular among members of the LDS Church, who believe that ordinances of salvation can be performed on behalf of deceased relatives in temples.
“We thought, if the LDS population, which is 2 percent of the U.S. population can pay a million dollars in a few months for genealogy, what if you had 50 times larger audience?” Allen said.
Two years later, Infobases bought a company called Ancestry Publishing, which produced genealogy reference books and magazines, from Salt Lake-based entrepreneur John Sittner. With the merger, a new genealogy-focused tech company, Ancestry.com was born.
While the LDS Church does not have a financial relationship with Ancestry, they have shared resources: Ancestry has digitized millions of records stored and catalogued by the church, and in return the church has given Ancestry access to portions of the genealogical database the church has built since its earliest years for its temple work. Members of the church also get a free membership to Ancestry.com.
According to Loretto Szucs, a genealogist who worked with Ancestry from 1983 until 2014, the company was never solely focused on the LDS market.
But because of the extensive genealogical resources the LDS Church owns, cooperation between the organizations was always important from Ancestry’s perspective, Szucs said.
Paul Nauta, a spokesperson for the LDS Church’s non-profit genealogy organization, FamilySearch, said that FamilySearch is grateful for partners like Ancestry that help “make more records accessible to more people, faster.”
While Nauta spoke broadly on how FamilySearch works with partners in the genealogy business, he declined to comment specifically on the relationship between Ancestry and the LDS Church.
Ancestry’s foray into DNA testing
Scenes from the 1996 KBYU documentary, “Secrets of the Pharaohs: A Quest for Ancient DNA,” show BYU genetics professor Scott Woodward and his team unearthing skeletons from a sandy excavation site in Egypt. Back in a U.S. laboratory, they drill into the teeth of the ancient humans to extract DNA.
Woodward’s goal was to discover what the DNA of an ancient Egyptian looked like and to figure out how individuals buried across gravesites were related to one another, piecing together the family trees of long-deceased fathers, mothers, brothers and sisters.
“We started to ask the question — If we can reconstruct families of individuals who lived two and three thousand years ago, why can’t we use DNA to reconstruct family relationships of people living today?” Woodward said.
Thus began Woodward’s quest to construct a worldwide family tree through DNA.
Woodward and his team started traveling the world. They collected DNA samples from people who could prove through genealogical records that their family had lived in a region for a certain number of generations. Ultimately, they obtained about 120,000 DNA samples from 172 different countries and compiled the world’s largest DNA dataset.
After years of talks with Woodward, Ancestry acquired his laboratory and data in 2011. The next year, it launched the first Ancestry DNA product, which allows users to send their saliva through the mail for autosomal testing. Just seven years later, close to 10 million people have been tested, according to the company’s website.
While Ancestry’s tests simply focus on where someone’s ancestors lived, a myriad of other companies offer tests that claim to tell customers everything from disease risks to athletic ability to the best diets for them — even what wines they might prefer.
From the outset, direct to consumer genetic tests for disease risks have been met by skepticism from members of the medical community concerned about accuracy and the potential for people to misread results without professional guidance, said Jeff Botkin, Associate Vice President for Research at the University of Utah and Chief of the Division of Medical Ethics and Humanities.
“Different companies will give the same person different answers about health risks,” said Botkin. “I worry that people may make poor health decisions accordingly.”
A 2017 study at Stanford University revealed that half of women who underwent double mastectomies after genetic testing may have done so unnecessarily, even though most consulted professional genetic counselors.
23andMe, which offers both ancestral DNA testing and genetic health risk analysis, has had to carefully determine how to deliver sensitive health information to its customers, such as genetic predisposition to develop breast cancer or Alzheimer's.
The challenge lies in helping consumers understand that health risk results are not diagnoses, nor do they take into consideration all the factors, beyond a person’s genes, that contribute to a disease. According to a 23andMe spokesperson and FDA press releases, 23andMe is the only consumer genetics company that has gone through the rigorous FDA authorization process for health-related DNA reports, a process which includes consumer comprehension testing.
DNA tests that simply look at where a person’s ancestors came from may seem more innocuous, but Timothy Caulfield, an expert in health policy and professor of law at the University of Alberta, thinks ancestral DNA tests could have serious consequences as well: namely, reinforcing racism.
News reports have shown thatwhite supremacists have eagerly purchased DNA tests to prove their European descent and to show that they are genetically different from others.
Meanwhile, peer-reviewed research has shown that highlighting genetic differences increases the likelihood of racist perspectives and decreases support of policies aimed at addressing prejudice. A 2014 study published in Social Psychology Quarterly found that direct to consumer tests for racial variations increased beliefs that whites and blacks are essentially different.
“The more we suggest that biological differences between groups matter — and that is exactly what these companies are suggesting — the more the archaic concept of race is perceived, at least by some, as being legitimate,” wrote Caulfield in an online article published by Policy Options.
But Woodward, who noted that all humans share 99.8 percent of the same DNA, has observed DNA testing having the entirely opposite effect. At one point while he was conducting research in the Middle East, his team brought a group of Arabs and Israelis together, administered genetic tests and showed them just how closely related they were.
“Essentially, their minds were changed,” said Woodward.
Privacy and the future
According to Darnovsky from Genetics and Society, trends in law enforcement are moving toward more DNA collection and more familial searches, meaning more police are looking for DNA relative matches to narrow down suspects in investigations.
“Judges and juries have not caught on to how much room there is for misuse,” Darnovsky said, citing a recent California Supreme Court ruling.
In 2014, The New Orleans Advocate reported police used a public DNA database, owned by Ancestry, to incorrectly identify a filmmaker from New Orleans as a suspect in a 1996 Idaho Falls murder case. The filmmaker made violent movies and also shared a common relative with the killer, whose DNA was collected at the crime scene, leading police to suspect the New Orleans man had committed the crime. However, the man was found to have no connection to the case, which remains unsolved.
“Just like that, a relative’s DNA could turn you into a suspect,” said Darnovsky.
In 2015, Ancestry removed public access to the database used by police. In response to other customer concerns about privacy, Ancestry has added a myriad of selection tools to allow users to control their experience and to adjust who can see what information about them. The company warns people they may encounter surprises about their parentage and provides over-the-phone assistance to those who discover something they weren’t expecting. At any point, users can delete their results and their data.
“We make it very clear, in very plain English terms what they are agreeing to,” said Hochhauser. “If a customer changes their mind, that’s fine.”
While Ancestry says it doesn’t sell user data to insurers, employers, health providers or third-party marketers, it does provide a number of research partners access to user data, including one commercial partner, Calico, which is helping Ancestry study longevity.
The financial terms of that deal are not disclosed, but Ancestry tries to be as transparent as possible about what kind of research the data is being used for, said Hochhauser. The company does not currently allow consumer DNA data to be used for research that involves gene editing or cloning, for example.
“That would fall deeply outside our mission,” Hochhauser said. “When you are consenting to research, it’s really to further our products and services.”
Still, there’s no guarantee as to what kind of research direct-to-consumer DNA data might be used for in the future. And some worry about the ethical implications of research that involves altering human DNA.
Genetic science has progressed rapidly. It cost $2.7 billion to sequence the first human genome in 2003. Now it can be done for about $1,000. At the same time, direct-to-consumer testing has accelerated and improved DNA research by providing a wealth of new data.
Last year, the FDA approved gene therapy treatments — which involve modifying a living person’s DNA — to treat cancer and certain types of blindness. The technology has also been used recently to cure sickle cell disease, build new skin and treat hemophilia.
Scientists have used a tool called CRISPR to edit the DNA of living organisms, and soon it could be used to edit living humans’ DNA and eliminate diseases.
Darnovsky says germline gene editing, where human embryos are directly modified, is the “clear line.” The first study on gene-edited human embryos in the U.S. took place last year, conducted by Oregon Health and Science University.
Darnovsky believes gene editing human embryos is dangerous because it could lead to an increasingly divided world where rich people purchase expensive “genetic upgrades” for their kids, who are then seen as superior to others.
According to Darnovsky, about 40 countries have specifically outlawed germline gene editing, but the United States has not. However, the National Institute of Health has stated it will not fund this type of research, and there are also laws that prevent the FDA from entertaining proposals for germline editing, Darnovsky said.
Other experts are worried about the possibility for discrimination based on genetics. Although the United States has had the Genetic Information Nondiscrimination Act (GINA) since 2008, gaps in the law mean that life, long-term care, or disability insurance providers as well as the military can still make decisions based on findings from your DNA.
Woodward’s solution to navigating the complicated ethical questions of DNA technology is to educate the public.
“I think it’s terribly important that people become educated. In my mind, I think genealogy and what Ancestry is doing is a major first step in introducing the public to what DNA can do, what DNA is,” said Woodward.
Schwiebert from Wisconsin doesn’t regret her DNA testing experience. But she agrees that education is key, and that DNA testing companies need to clearly notify consumers about the potential for surprises.
In the end, Schwiebert found out who she really was. Although the family she grew up with rejected her, she developed close relationships with her newfound cousin and half sister.
“Looking back, I knew I was different from the family. I always felt I wasn’t connected to them,” said Schwiebert. “Now I know where I belong.”
In November of 2017, New York Sen. Chuck Schumer asked the Federal Trade Commission to "take a serious look at this relatively new kind of service and ensure that these companies can have clear, fair privacy policies."
According to Woodward, the need for future legislation against the misuse of genetic data is inevitable.
“What are you going to do and what are you not going to do?” asked Woodward. “We have gene editing. We’ve been cloning animals for a decade or more. So, it is here. The brave new world is here.”
Footnote: Brad Pelo is currently an employee of Bonneville International, which is part of Deseret Management Corporation.