One recent Christmas, my parents sent me a small box containing an empty vial. All I had to do, according to a note on the box that read like something from Alice in Wonderland, was spit.
So I spat. Then I spat several more times to reach a fill line. And then I sent the sample off to a lab, where technicians extracted epithelial cells from my saliva and extracted DNA from those cells. While well over 99 percent of my DNA is exactly like yours (and about 96 percent the same as a chimp's, by the way) the results I would receive would only involve the few and tiny differences in my strands—the sequences of nucleotides that make me truly me.
Just spit! And find out more about where you came from, who you really are and what will happen to you next. It's like your body telling a secret to your mind. It's like tea leaves or palm readings or tarot cards—if any of those things were solidly based in scientific fact. It's like getting a cheat sheet to your life, information that could change how you see and do everything.
I had read articles here and there about the genetic testing company, 23andMe, that analyzed my DNA. There were stories of people finding their long-lost children, but also stories of people finding out their dad wasn't their biological dad. There were stories of people learning amazing facts about their past, but also stories about people discovering secrets better left buried. There were stories about how DNA testing could even save your life, but also stories about genetics companies hoarding medical information. Was I opening a double-stranded can of worms for no reason except curiosity?
DNA testing would be like opening a gift (and mine was literally a gift) except the contents could be good or bad or both—and that's the feeling I had when an email informed me several weeks later that my results were ready to view.
Deciding to test
I am not exactly a stranger to the wonders of DNA. My parents both happen to hold doctorates in medical science and have professional backgrounds that run fairly parallel to the unfolding story of genetic research over the last five decades. I grew up in a home where science ruled. When I asked where babies came from, I got a Darwinian fairytale from my father. When I asked what happens when we die, I got a blunt but loving lesson in decomposition from my mother.
Although I was ambivalent about spending hundreds of dollars on genetic testing—current 23andMe kits run $199—my parents seemed much more aware of the benefits and opportunities that could come from the experience. Finally, they told me, with commercial DNA sequencing we would receive three pieces of information denied all humans who came before us: unimaginable answers about our past (through analyzing our mitochondrial DNA), insights into our present (through analyzing our traits) and hints about our future (through analyzing our known health risks).
My mom, who has always loved being on the cutting edge of technology (she boasts having owned one of the first calculators, one of the first VCRs and, more recently, one of the first Apple Watches), saw the potential of a revolution in how individuals could care for their own health, from how doctors would decide on cancer treatments to how annual physicals would be conducted. I didn't quite understand the extent of her excitement about DNA home testing until I read her 23andMe profile, which reads simply, "To be able to participate in the dawn of personalized medicine is beyond my wildest dreams."
Processing the past
The first half of your DNA results deal with your ancestors: who you are, based on where you came from. When I first logged onto the 23andMe website, I was welcomed by a visual breakdown of my ancestral composition based on region, a list of my known relatives with 23andMe accounts (based on our common genes) and a rough sketch of a shaggy Neanderthal, who informed me of my exact percentage of Neanderthal ancestry: 2.8 percent. I looked at the Neanderthal, who, like all sketches of Neanderthals, seemed to be looking off to the side, as if focused on evolving off the page. I hoped we did not share the same brow.
The details of my ancestry results contained one immediate surprise—and one that was echoed in my father's and grandmother's results. Although we had considered it a fact that my "Maw-Maw" was Korean, her genes told a different story. She is actually also 25 percent Japanese. Two generations later, I am about 15 percent Korean and 10 percent Japanese, with about 5 percent of random East Asian genes mixed in—math that only works due to chromosomal crossing over.
While my immediate family took the news with interest and acceptance±after all, as my dad pointed out, you can literally see Korea from Japan—it was information that wasn't especially welcomed by my older Korean relatives, all of whom harbor understandable animosity toward the Japanese after a long history of conflict between the nations and cultures. We debated telling my 92-year-old grandmother at all, or simply withholding the information. One of my great uncles hasn't spoken to my dad since he mentioned the genetic discovery, highlighting one of the possible hazards of getting your DNA analyzed: finding out that you are literally your own worst enemy.
The next ancestry surprise landed in my email inbox months later, when a stranger named Derek Dohrman sent me a message simply titled, "Fam?" It was from a computer programmer about my age who shared 1.56 percent of my analyzed segments, making him a probable second or third cousin. I referred him to my mom, who in addition to being a biologist is also a genealogy buff who has traced our family tree back hundreds of years.
My mom looked at Derek's DNA results as well as the results of his father, David. For a geneticist, the conclusion was black and white:
"David shares a little more than 10 percent of genetic variants with me," my mom explained. "So if you backtrack, his mother would have shared a fourth with me. While we haven't proven anything, it's pretty obvious that Derek's grandmother was my half-sister."
It was a piece of information that fit into what we had already pieced together. David's mother, Shirley, who passed away 15 years ago, was adopted and never knew her biological parents. My grandfather lived in Shirley's hometown of Flint, Mich., at the time she was born. My mom suddenly had a half-sister. All of us suddenly had new blood relatives.
Finding out I am one-tenth Japanese and that I had an aunt I never knew were certainly interesting facts, as was finding out my mitochondrial DNA traces my heritage back to the ancient Sami reindeer herders 40,000 years ago. But the real treasure is that these discoveries led to conversations with my family members and those conversations led to stories.
My dad told me about my great grandfather who lost everything after the Japanese invaded Korea in 1910. He immigrated to Hawaii after reading an advertisement that said he could get rich there, but then spent the rest of his life working on sugar cane plantations in poor conditions, exploited for cheap labor.
My mom told me about my grandfather's life before he was a Louisiana farmer with eight kids, when he worked in a GM factory in Flint before he was fired for dancing all night and being late for work—not once, but twice. Possibly, we know now, he was dancing with a woman who became pregnant and gave their baby up for adoption.
In these cases, the DNA information resulted not in an epiphany, but rather acted as a prompt. It was a gateway into stories I would have otherwise never heard. While a lot of people refer to DNA analysis as a way to find missing puzzle pieces, I found that my DNA results simply encouraged me to appreciate the puzzle.
Peering into the future
The far more controversial half of DNA testing is the health results. Based on research conducted around the world (including some research involving data from 23andMe participants), the website outlines your health risks, your possible drug interaction, toxicity and response issues, and your likely inherited conditions. For example, my biggest health risk is a 20.8 percent chance of being diagnosed with breast cancer during my lifetime, almost twice the risk of the average woman.
The U.S. Food and Drug Administration heavily restricted DNA testing health results in 2014 and 2015 but have allowed 23andMe to share modified health results beginning again this year. The reason for the restrictions have been twofold. The FDA required 23andMe to prove its health results were accurate (and accurately portrayed), and they were concerned users of the service did not have enough knowledge or information to understand or process their results. Telling someone they have a genetic marker associated with colitis, for example, is very different than having colitis, developing colitis in the future or passing colitis on to your children.
When I asked my mom about what she thought were the biggest drawbacks of getting your DNA tested, she echoed the second concern.
"For people who don't have much of a science background, they might jump to conclusions," she said. "They might just assume they're going to get a disease. They might not talk to their doctor about it. They might become depressed about it. Or they might start demanding expensive tests. It is not as simple as it used to be. It's not like Mendelian inheritance with big Bs and little Bs like you learned in high school. The interactions of genes and proteins can throw everything off. You might have one marker that counteracts another marker. Our DNA is doing a lot more than most people have any idea."
The main concern posed by critics of direct-to-consumer genetic testing is that there is no requirement for a doctor to be involved—no one to interpret or explain your results, no one to guide your medical decisions after analyzing your traits and risks, no one to tell you the difference between a diagnosis, a trait or a risk, not even someone to explain the extent of your risk, which can be more difficult to understand than it first appears. While doctors are now offering DNA analysis and being trained to interpret and use the information, it is not a mandatory component of testing.
The 23andMe platform now tries to combat these issues by educating its users, which can be a challenge since what we know about genetics changes literally by the day. When I clicked on my 20.8 percent risk for breast cancer, for example, I was sent to a page with links to support groups, genetic counselors and additional DNA tests specific to breast cancer. I also saw detailed information about my risk—of eight breast cancer markers, I had an increased risk for cancer based on six markers and decreased risk for two.
The page also reminded me that getting breast cancer is only an estimated 27-40 percent genetic. Under that reminder is a list of steps I could take to protect myself, from maintaining my weight and limiting alcohol intake to avoiding hormonal birth control.
I suddenly felt a huge, new accountability for my health. Now that I had the knowledge I was at risk for breast cancer, would I feel guilty every time I gained 5 pounds or ordered a pint of beer? If I do get diagnosed with breast cancer, will I feel that it was 73-60 percent my fault?
I also experienced some of the fear that many have raised about personalized medicine: Could this or other genetic information be used against me? I gave 23andMe permission to use my information for research, but how could others use it in the future? Could having breast cancer markers affect the price of my health insurance or my status in society or even my daughters' abilities to find partners or have children? While some of these concerns edge toward conspiracy theory, there are real questions about how raw DNA data will be used 10 or 20 or 100 years from now.
And yet other people in my family had breakthroughs in their health that permanently changed their lives for the better. My mom discovered her body doesn't metabolize caffeine and other drugs efficiently, which was causing her frightening heart problems. And my brother was able to better understand the autoimmune issues he has been struggling with since he was a kid. They agree the information they discovered was worth the risk of their genetic information now existing in a computer file.
Looking into a mirror
Perhaps the oddest part about DNA analysis is that you get a lot of information you already know and a lot of simple statements about who you are, right now. I am a female with straight brown hair and brown eyes. I am lactose intolerant. I tend to have big babies. I like the taste of broccoli. I have wet earwax, whatever that means.
But from there, it gets stranger. As researchers delve deeper into genetic research, they are making connections between genes and traits that are more and more subtle and abstract. Promethease, a computer program that analyzes your raw data DNA file and compares it directly to SNPedia, a public human genetics database, provides anyone who has access to their DNA file with ongoing information about their variants as researchers make progress. For $5, I uploaded my 23andMe data file to have Promethease tell me that I have a higher pain tolerance than the average person, that I likely have slightly better body odor than average and that I probably perform well under pressure.
These trait results sounded more like a horoscope than the results of DNA analysis, and in a way, they are, since the science is both complex and far from perfect. For me, being told who I am seemed much more personal than being told where I come from or where I might go.
For example, I carry the A1 variant, which everyone agrees is bad. It's associated with not being able to learn from your mistakes, with addiction problems, with the inability to be persistent and with the inability to respond to errors. As I read about this trait, which lives in each and every one of my cells, I wondered how I should process this knowledge about myself. Do I fight against it? Do I accept it? Do I simply try to be more aware of my weaknesses? It's the heart-dropping feeling you get when you walk into the break room and your coworkers are joking about something you do, except you know with certainty what they are saying is true. It's a flaw in who you are, in plain language, laid bare.
What we can't know
DNA testing might be able to tell you your cancer risk, but it can't tell you if you'll be hit by a bus tomorrow. It can tell you who your father is, but it can't tell you who you consider your father. It can tell you you have trouble learning from your mistakes, but it can't tell you you'll never learn.
As I spoke to my family members about their experiences with DNA testing, patterns and themes began to emerge. Most people said they didn't think about their results very often. Most people said they are glad to know about future health risks. And everyone said they would do it again. But the biggest consensus surprised me. Almost everyone I spoke to said they had initially spit into that little vial to find out how they were different and special, but what they ended up feeling was closer to everyone else—that the 99 percent of our genome trumped that 1 percent.
My new-to-me cousin Derek put it best: "It changed how I feel about myself. When you start to trace your DNA back, you see how many people you are related to, all over the world. It's just a big web of people. It opens your mind up. There's no reason to be so clannish or us-versus-them. We're all related. It's arbitrary and temporary to group ourselves or label ourselves. It's made me a little bit more open."
A little more open and a little bit connected is how I feel, too. To reindeer herders and my Asian ancestors and people who have trouble learning from their mistakes. To a normal family who lives in Flint, Michigan. To my four aunts who have battled breast cancer. To my mom and dad. You can see DNA testing as a time machine, a mirror, a fortune cookie, a diagnostic test, but perhaps what it is most is a simple reminder that we are all in this together.