Open secrets

Early last year, Jan Moore of Brownsville, California, opened a kit from Ancestry.com and swabbed the inside of her cheek. She then carefully placed the sample in the vial provided and mailed it off for processing, expecting to confirm the heritage she’d learned growing up—that she was part Russian, Lithuanian, Polish and Austrian. What she discovered, however, came as a complete shock.

Yes, her DNA test showed that she was Lithuanian and half Ashkenazi Jewish, exactly what she thought. But the other half mapped out English, Welsh, Irish and Scottish ancestry. Moore stared at her Ancestry.com results for a while, unable to comprehend. Then she scrolled down the page to her list of relatives and saw a woman’s name with the designation “first cousin.”

But Moore knew all of her first cousins, and she had never heard of this woman. She clicked on the button to send her a message.

“Who are you?” Moore wrote.

The woman emailed back and they arranged to speak on the phone. During that first conversation, the woman asked Moore a series of questions.

“Were you born in Baltimore?”

“Yes,” Moore answered.

“Are you Jewish?”

“Yes,” Moore said.

Then the woman paused and asked, “Do you want to know?”

Moore nervously answered yes.

“Well,” the woman began. “I’m not your cousin, I’m your niece. And my father is your half-brother.”

Moore felt all the color drain from her face.

“I almost fell to the floor,” she said. “Everything stopped.”

It turns out, Moore’s half-brother is Thomas Wheeler, M.D., chair of the department of pathology and immunology at Baylor College of Medicine. The well-informed niece is Danica DeCosto, Wheeler’s oldest child.

Wheeler’s father, now deceased, was a prolific sperm donor in the 1940s, when he was a medical student and surgical intern at Johns Hopkins School of Medicine in Baltimore. At that time, Wheeler’s father was working with a doctor who helped pioneer artificial insemination and took clients who were primarily married Jewish couples with fertility issues.

Unbeknownst to Moore, she was one of the children born from those efforts, a secret her mother and father—who have both passed away—never planned to reveal.

Brave new world

Stories like Moore’s are becoming increasingly common now that direct-to-consumer genetic testing has become widely available, thanks to its convenience, relatively low price and the tantalizing promise of learning something new about one’s life. The kits are helping to expose family secrets that would otherwise die along with those who kept them.

Individuals can sign up with a company— 23andMe, FamilyTreeDNA, Ancestry.com, AncestryDNA and MyHeritage are among the most popular—and a kit shows up on their doorstep with instructions to either spit into a tube or swab their cheeks and return the samples via postal service. Results are usually available within a few weeks.

Most of the companies offer information about a person’s ancestry or genealogy, including ethnicity and genetic connections between other individuals who have also completed genetic tests. The kits can also confirm kinship if both parties purchase a kit and their genealogy matches. Some genetic tests are also now providing information about predispositions for certain diseases and conditions, including heart disease, breast cancer, Parkinson’s, Alzheimer’s and carrier status for cystic fibrosis and sickle cell disease. Information that was once only available through appointments with specialists is now just a drop of saliva away.

But what happens if, like Moore, you learn something completely unanticipated?

“Sometimes, unexpected ancestry information can be more upsetting than getting unanticipated health risk information, because it can really disrupt family relations,” said Amy McGuire, J.D., Ph.D., director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine. “Some of those well-kept secrets that people thought they’d go to their grave with are no longer sustainable.”

It is impossible to predict how people will process new genetic information.

“It’s often difficult to anticipate how people are going to react, and different people will react to the same situation differently,” said Jessica Roberts, J.D., director of the Health Law & Policy Institute at the University of Houston. “You can imagine finding out your father is not your father could be very disruptive to a family unit, but then I’ve also heard anecdotes of a person saying, ‘We uncovered misattributed paternity,’ and the person was relieved because they never liked their dad or they never felt connected.”

As for Moore, she feels devastated that she never had the chance to meet her biological father, who, like the parents who raised her, has also passed away. Growing up, Moore said, she never quite felt like she belonged, but she never imagined it was because of a missing biological link.

“My whole life, I always wondered, Who do I take after? Who do I look like? I didn’t fit really with anybody,” Moore said. “I never got to meet my father. That was taken from me, and who had the right to do that?”

Wheeler told Moore how disappointed his father had been that he never knew any of the potentially hundreds of children his sperm donations had helped bring to life, and that his father had always hoped there was a daughter out there in the world.

Not long after their discovery, Wheeler was also matched with a half-brother who, like Moore, had no clue about his hidden family lineage.

“They invariably say the same things, like they never really felt like they belonged in some kind of weird way,” Wheeler said. “It was like they were robbed of that potential identity.”

Wheeler’s family has embraced Moore and tried to help her feel connected. She has been both surprised and delighted to learn just how much she and her birth father share.

“It was like all these little tiny things that I do, that you think are your own personality and that are learned socially—it’s not,” Moore said. “It’s like everything that I am is exactly how he was, and I never met him. The interesting part to me was realizing how much of yourself is already pre-wired. You almost don’t have a choice.”

Moore has connected with other donor-conceived children through Facebook groups and said that her feelings are not uncommon.

“There’s thousands of us, and every single person feels the same way. They’re angry and they’re confused,” she said. But, she added, she is one of the lucky ones, as she has gained a new family in the Wheelers.

“Knowing my new family—that part is awesome,” Moore said. “It was like the secret I’d been looking for my whole life.”

Not all donor-conceived children have such a straightforward response.

Both McGuire and Roberts cited news stories about individuals who discovered their ancestry traces back to a group toward which they harbored animosity, but that the information led to more tolerance or positive change.

While some people are happy to embrace a whole new culture, others choose to maintain what they’ve always known, Roberts said.

“I think that we really don’t know how to deal with these things until we have more experience with them,” she said, “which makes it exciting but also creates unanticipated risks.”

Disease risk and reactions

Perhaps highest among those risks is the burden of health information, which may include a predisposition to certain diseases. Individuals don’t always give much thought to what it might mean to learn that they are predisposed to, say, Alzheimer’s.

“I worry about people going in unwittingly and getting health information without realizing what they’re getting—especially for those buying the test to get their genetic ancestry and deciding to throw in the health screen as an added bonus,” McGuire said. “It’s the very subtle ways in which having this information might change how we think about ourselves, how other people think about us, or how we live our lives. How, on a psychological level, are we going to handle this information?”

McGuire, who had her own genome sequenced, hosted a TEDMED Talk about her decision at the time to not find out her results. She already knows that certain diseases run in her family—her mother has Parkinson’s and her grandfather had Alzheimer’s—but she wasn’t ready to get the results until she could be sure that whatever they were, they wouldn’t change how she lives her life.

“I know that I’m at risk because I have family history, but I wondered how I was going to feel if I had a genetic predisposition to a serious disease. Might I think about myself differently? Would I expect different things of myself? That’s what I worried about, but I think it’s a very individualized thing.”

Those questions have hovered over genetics for decades, especially with regard to children. The World Health Organization published a paper in 1998 stating that genetic tests should be offered in such a way that individuals and families had a say in how—or if—they learned the results, and that children should only be tested in the context of advancing their medical care. To date, the consensus in the field remains that children have a “right to an open future,” to borrow a phrase from philosopher and ethicist Joel Feinberg, and should be protected from having others make important life choices for them before they are mature enough to make those choices for themselves.

It becomes even more complicated, McGuire noted, when parents order direct-to-consumer genetic tests for their children. While most companies state that their tests are intended for adults, there is nothing to prevent parents from ordering the test, collecting a sample from their child and sending it off.

There are some diseases that experts say should remain wholly exempt from over-the-counter genetic testing, such as Huntington’s disease. For many diseases, genetics can hint at a predisposition or risk, but the presence of a single abnormal gene associated with Huntington’s, a heritable and fatal neurological illness, indicates a diagnosis.

“Many people do not want to know if they’re going to get Huntington’s,” McGuire said, “and it’s hard to test a family member when another family member doesn’t want to know. We had an interesting case at Baylor years ago where somebody came in whose father had Huntington’s, but he didn’t want to know his own status. His wife was pregnant and they wanted to do the prenatal testing to see if the fetus was positive, but first we had to explain to the individual that if the fetus was positive, he was definitely positive.”

Presently, no direct-to-consumer genetic tests offer screening for Huntington’s, in part because of the limitations of their technology. According to information published by 23andMe, their test is not designed to analyze for certain conditions associated with repeats, insertions, rearrangements or deletions in DNA, of which Huntington’s is included.

Context and privacy

To further muddy the ethical waters, the interpretation of results in direct-to-consumer genetic kits can be misleading because the tests provide only partial information about overall health. Environment and lifestyle choices play key roles in health, but those factors are not often highlighted in the literature accompanying the kits.

“When you’re looking at things like breast and ovarian cancer, it matters what your family history is, it matters what your personal history is, and it needs to be put into context,” McGuire said. “When you’re just getting this information from a direct-to-consumer test, oftentimes without input from a genetic counselor or a clinician, the contextual information may not be fully there. That doesn’t mean that people can’t go and get that contextual information—and I hope they do—but it’s not built into the system necessarily.”

Testing for variants in the BRCA gene, for example, underscores some of the system’s potential flaws. Hundreds of variants in that gene could indicate an increased risk for breast cancer, but most of the direct-to-consumer companies test for only the most common two or three variants.

“Just because you don’t have the variants they are testing for doesn’t mean you don’t have any BRCA variants,” McGuire said. “Some people worry that consumers are not going to fully appreciate that information and think they’re safe or that they don’t need to be as diligent with their mammograms.”

Privacy is another sleeping giant that genetic testing has provoked.

Most testing companies use the genetic data they acquire for large health databases and to support research. Law enforcement, though, uses the information to solve crimes.

In April of last year, investigators arrested Joseph James DeAngelo for rapes and murders committed in the 1970s and 1980s after using a public genealogy website to connect evidence from the crime scenes to DeAngelo’s distant relatives. The “Golden State Killer” is one of many cold cases solved with help from genetic databases, prompting conversations around ethical and privacy concerns.

And in February, FamilyTreeDNA became the first commercial testing company to voluntarily provide law enforcement with access to user data.

Still, there are some safeguards in place for individuals. In 2008, Congress passed the Genetic Information Nondiscrimination Act, which bars health insurers from denying coverage or charging higher premiums to people based on genetic predisposition. It also prohibits employers from even requesting a person’s genetic information, much less using the results to make decisions related to employment or job status.

Despite all the risks and surprises that come with genetic testing, many people believe that it is their right to know their genetic information—no matter what it reveals.

“When I first started doing this work over 10 years ago, one of the things that I wrote about was the potential to form a genetic identity—that we might have some sort of identity tied to our genetic information the way we do to, say, our race or culture or gender or religion,” Roberts said. “As we see genetic testing becoming more widespread and we gain the ability to learn even more from our genetics about our relationships and our health and our ancestry, the possibility of a genetic identity is becoming something that’s very real.”

So far, research suggests that uncovering these genetic secrets—no matter how life-altering they may seem—is a positive experience for most.

“An early concern was that providing all of this information about disease risk would make people anxious; some worried they would get depressed, but we’ve actually found that that’s not true,” McGuire said. “We’ve done studies and people don’t suffer clinical anxiety or depression after getting results. We’re pretty adaptable as human beings, and we generally do well with this information.”