This article originally appeared in Genome, and received a 2015 Award for Excellence in Health Care Journalism from the Association of Health Care Journalists and honorable mention in the 2016 Folio Eddie Awards.
Sonny Varela comes from a Hispanic neighborhood in East Bakersfield, California. The only son of a single mother of mixed Native American and Hispanic heritage, Varela says his numerous first cousins were the brothers and sisters he never had. Compared to him, Varela’s cousins were short with dark skin. In that part of town, that’s what his friends and classmates looked like, too. Nothing like him. Light-skinned and taller than his relatives, Varela eventually grew a thick, dark beard that reaches down his neck. “I always thought I looked just like everybody else until I looked in the mirror,” Varela says. He didn’t look much like his mother or the Hispanic man named as his father on his birth certificate. His so-called father, whom Varela saw infrequently, was short, dark-skinned, and not very hairy. So, Varela wasn’t surprised when he was 12 years old and his mother told him the man wasn’t his father. But she wouldn’t tell him much more. “I’d say, ‘Just tell me something, anything, about my father,’ and she’d shut down.” All he learned was that his father was a Jewish doctor from Los Angeles with whom she’d had a one-time encounter. At 18 years old, an optimistic Varela showed up at human resources at UCLA Medical Center and asked about doctors who might fit the bill. “How many Jewish doctors could there be in L.A.?” he wondered. Almost 20 years later, direct-to-consumer (DTC) DNA tests and social media proved to be just the right tools for a guy who believed he could find a needle in a haystack. Varela, now 36 years old, is among a growing number of people of both known and unknown biological parentage, who are combining these tools to get the information they crave. Genetic testing can tell users what percentage of their DNA matches that of people from all over the world. It can provide information about disease risk — a boon for those who know nothing about family medical history. Testing companies also connect users with any relatives, close or distant, who happen to be in their database. Savvy users might pair this information with social media to find family they never knew. How it works Family Tree DNA, 23andMe, and AncestryDNA are making amateur geneticists and genealogists of laypeople everywhere. AncestryDNA is the three-year-old DNA testing segment of Ancestry.com, the longstanding family-tree-building site. AncestryDNA and 23andMe each boast around a million members in their DNA network. For about $100, the companies send customers a kit containing a vial and a return mailer. Kits instruct customers on how to fill the vial with either saliva or a cheek swab. “We compare different sites in your genome to the genomes of thousands of people who are known to come from different populations around the world to give you an estimate of where your ancestors most likely came from,” says Cathy Ball, vice president of genomics and bioinformatics at AncestryDNA. These results are based on statistical probability. The companies also compare each customer’s DNA to that of all their other customers. This process identifies relatives in the database, such as cousins ranging from first to distant, depending on how much DNA they share in common — about 12 percent for first cousins to just under 1 percent for third cousins. First cousins share grandparents. Second cousins share great grandparents, and so on. The closer the relationship, the more accurate the company’s prediction of that relationship, says Ball. The companies share with users any information that their relatives have made public. This could be family trees, a photo, or shared ethnicity estimates. Or it could simply be the person’s sex. Users can then message their relatives through the website. The companies rely on the network effect: The more members a company has, the greater the odds that members find relatives. Some people test with all three companies in order to find more relatives. That’s what Varela did. A need to know Varela’s adolescence and young adult life were marked by anxiety about not knowing his family history. “It’s like starting a book in the middle. You don’t know who the character is or where he came from,” Varela says. Only the unknown character was him. No matter what he might find out, he was always sure that knowing would be better than not knowing. “The truth is still the truth, whether you know what it is or not,” he says. “When you know what it is, at least then you can choose how to respond to it.” Anxiety is not uncommon among people who don’t know who their biological parents are. “Some people need information in order to self-regulate, to calm themselves, so they’re not anxious and don’t feel that their life is so out of control,” says Shannon Poppito, a clinical psychologist at Baylor University Medical Center in Dallas. The anxiety of not knowing can be complicated by guilt. “When adoptees express a strong interest in their birth family, some [adoptive parents] could feel threatened or wonder, ‘What is wrong with the life you have that you want this other information?’ ” says Richard Lee, a psychologist at the University of Minnesota, who researches the experiences of international adoptees. Negative responses to questions about biological family might push children to keep questions to themselves until they are grown. “That interest in birth family might get reignited when adopted adults become parents themselves,” says Lee. “When you have that love for your child, it can make you wonder what could have happened to your family that led them to place you for adoption.” When adoptees have biological children, he adds, “it’s the first time in your post-adoption life when there is another person you know who looks like you.” After Varela had four children, one of whom is adopted, he relaunched his search for his biological father. Varela has always told his 10-year-old adopted son, Noah, that if he ever wants to look for his biological parents, Varela will help. He told Noah about the possibilities that DNA testing and social media offer. “I kept saying I was going to do that for him one day, but why not me? Why not today?” In 2014 he sent DNA samples to all three major companies. In a few weeks, ancestry reports began to appear in his in-box. The competing companies agreed: Varela was half Ashkenazi Jewish. Varela stared at the computer screen. Until then, he hadn’t ever known if his mother had been telling the truth. He read the results over and over. “I had known nothing about my dad other than those couple of words my mother told me, and now some outside company was telling me things about myself I never knew. It was surreal.” This was information Varela had always wanted. But genetic testing can deliver unwanted information, too. A vial of saliva can reveal that people who thought they were related are not. It can draw bloodlines between strangers and make serious implications about infidelity. It can uncover disease risk — news that could impact the health of dozens of relatives. It can lead to a birth parent who doesn’t measure up to expectations or who didn’t want to be found. “You can feel that all of a sudden your life has gotten hijacked,” Poppito says. “What you thought you knew, your place in this world, has been completely dislodged.” Discovering a health history Varela uploaded his raw genetic data from 23andMe to Promethease.com. For five dollars, the site generates a written health analysis of a user’s DNA. The report notes genetic markers that could indicate greater risk for particular diseases and provides links to studies that explain the connection between the genes and those conditions. DTC ancestry-testing companies previously didn’t have FDA approval to provide this type of information, but in October, the FDA authorized DTC carrier-genetic tests from 23andme, creating a path for future autosomal recessive carrier tests. Through Promethease, Varela learned that longevity was in his genes, and so were increased risk for macular degeneration and dementia. “It was like a veil was lifted. I was finally able to see in my own genes what had been shrouded in mystery,” he says. Some studies show that adoptees and their adoptive families report more health problems than other people. This could be due in part to a lack of known family medical history, which can indicate the need for early screening or identify symptoms leading to earlier intervention. Family history can teach people to be more vigilant about changes in their health. A new mole, for example, is a red flag for someone who knows his father had melanoma. Doctors can also tailor screening and prevention to an individual patient’s risk based on family history. In the absence of family medical history, testing for genetic predisposition for certain conditions can paint a more detailed picture of overall health. People who don’t want to wade through all the medical information on their own, as Varela did with Promethease, might choose to work with a genetic counselor, a trained professional who interprets genetic tests for patients and provides support. One can’t assume, however, that genetic testing reveals everything there is to know about potential health risks. “There’s a lot of controversy about what DNA testing can accurately and reliably fill in,” says Thomas May, the director of the graduate program in bioethics at the Medical College of Wisconsin. “In most cases, it offers the most use as a supplement to traditional family history.” Testing may reveal that a woman, for example, doesn’t have a BRCA1 gene mutation — a mutation that increases risk for breast cancer. That doesn’t mean, however, that this woman no longer needs mammograms. “There is the worry that people will draw false reassurances from this information,” May says. In his research, May identifies gene mutations that can provide people with useful information that can aid in health-related decision making. “We want to identify which conditions are the best for adoptees to be tested for,” May says, “and then develop a protocol for adoptees who wish to have this information.” Approaching a new family Varela tried to prepare himself not to expect much more than a picture of his ancestral roots and some information about his health. “I knew it was going to be a three-, five-, maybe 10-year search,” he says. But just a couple of months after he’d gotten his ancestry report, 23andMe connected him with a first cousin. Varela quickly determined that this wasn’t a relative on his mother’s side because they didn’t share a maternal haplogroup — a family of DNA types passed down by mothers. People in the same haplogroup share a common female ancestor. This meant the male cousin, whose online profile included no photo and only the initials D.C., was a relative on his father’s side. (Varela asked that his new family members not be named. For the purposes of this story, he gave his first cousin the alias D.C.) By this point, Varela had sent hundreds of emails to distant cousins. He knew from experience not to lead with “I’m looking for my father.” Varela explains, “Once you tell them your story, if they think there’s infidelity involved, nobody wants to be the one to deliver that bad news. They say, ‘Hey, I wish you the best, but I don’t want to get involved.’ Then they disappear.” Varela took it easy with D.C. “It looks like we’re first cousins,” he wrote. “It would be cool to see who we have in common. If you’re interested, let’s compare.” But D.C. was skeptical. Telling Varela he was sure he knew all his first cousins, he asked who Varela’s parents were and where he was from. Varela had no choice but to tell him the full story. D.C. continued writing to Varela, but he wouldn’t give up any information. Varela, on the other hand, made his Facebook and LinkedIn profiles completely public should D.C. want to check him out. “I sent him all my social media to show that I’m a real person, gainfully employed, happy, married.” Within days a man from Los Angeles, alias Matthew Cohen, viewed Varela’s LinkedIn profile. Because Cohen was a new and random visitor to his profile, was based in Los Angeles, and had a typically Jewish surname that began with the letter “C,” Varela couldn’t help but hope it was a relative sent by D.C. As luck would have it, Cohen and Varela had a LinkedIn connection in common. Varela searched their mutual colleague’s entire contact list for a D. Cohen. And he found it. Armed with the names of two men whom he believed were his first cousins, “Matthew” and “David,” he searched for them on Ancestry.com, which allows members to search a database of birth, death, and marriage records. “I found them — brothers. Then I found their mom.” If his detective work was right, the mom would be Varela’s aunt. “When I found their mom, I found her parents. When I found her parents, I was able to come back down and find all three of their children. Two boys and a girl.” One of the two boys, Varela hoped, was his father. Varela then used Ancestry.com to reconstruct the entire Cohen family tree. Varela reached out to a few members of the family — a woman and a man, potential half siblings or cousins — via Facebook. The woman responded right away, “If you’re a brother, we want to help.” After talking to her cousins, including Matthew and David, and her two brothers, they decided to tell her father — one of the two men who could be Varela’s father. He was a businessman in the healthcare industry — not exactly a doctor. The other man had severe dementia, which Varela knew was in his own genes, and didn’t know his own family anymore. The possible father responded with kindness. “He said, ‘It’s impossible, but he seems like a nice guy. I’d be happy to test for him.’ ” Varela was relieved that the man who might be his father was compassionate. The could-be father underwent paternity testing at a clinic in Colorado and had the results sent to Cincinnati, where Varela tested. When the results came in, Varela was stunned and numb, he says. “Could not be excluded as father. I was in shock for a week.” After the initial shock wore off, that old anxiety he’d known all his life had worn away, too. “Suddenly, I felt okay in my own skin.” He was no longer a book that started in the middle. “I have continuity. I have a beginning, and now I can move forward because I know where I’ve come from.” In the search for biological family, some people get close only to get rejected by potential relatives. Varela’s newfound family welcomed him. Shortly after the paternity test, he, his father, his two half brothers, and his half sister met for Thanksgiving at a restaurant in Colorado, where his half sister lives. “I’m pretty gregarious, outgoing, and opinionated, and they were all the same. That was the table I belonged at.” They went back to his half sister’s house and talked late into the evening, Varela capturing everything on a digital audio recorder. The next morning, Varela took his father out for coffee. They sat in the car and talked for an hour. “Tell me everything,” Varela asked him. Since then, one of his half brothers has been to Cincinnati to visit. Varela exchanges regular emails with his half sister. In a few weeks, Varela and his wife will take the children to Los Angeles to meet their grandfather. Varela’s father has Alzheimer’s now. The two talk on the phone weekly. “He always says, ‘Hey, you seem like a great guy. I’d love to get to know you at some point. I’m sure I’m going to be proud of you.’ ” The conversation has gotten repetitive, but it’s one Varela never gets tired of having.