The Ultimate Guide to DIY DNA Testing Kits
(Photo: Getty Images)
This article originally appeared in the November 2016 issue of ELLE.
Over the last few months, I've been doing some serious navel gazing. Well, more like belly-button-bacteria sampling. And cheek swabbing. And spitting copiously into plastic tubes that I've then sent away in the U.S. mail. One day, a nurse even came to the ELLE office and removed several vials of blood from my arm. What I've learned from all of this is that I have moderately elevated cholesterol and medical alert–low vitamin D levels; I'm more genetically primed for endurance sports than power sports; and I have a lower-than-average chance of getting wrinkly or saggy as a result of sun exposure. I've also confirmed a lot of what I already know: I'm 98 percent likely to have blue or green eyes (nailed it), 91 percent likely to have little or no unibrow (phew!), 58 percent likely to prefer salty snacks (pass the chips!), and 75 percent likely to be able to smell asparagus pee (alas, I can). Such has been my initiation into the plethora of self-testing kits and Web-based protocols that, without requiring a single doctor's appointment, herald a brave new world in which we can examine, analyze, and monitor the minutiae of our own bodies from the inside out.
When 23andMe first introduced direct-to-consumer genetic testing in 2007, it meant that anyone with $999 to spare (today it's $199) could get a snapshot of certain trait-determining snippets of his or her genetic code. Since then, many biotech companies have begun to take advantage of increasingly inexpensive gene-sequencing technology to provide easy test-at-home kits, while others have devised new ways to quantify human wellness-all designed to cater to the life-hacking generation's obsession with being smarter, faster, and healthier than ever before. These new methods, most of which require the sampling of one unsavory bodily fluid or another, go beyond anything a noninvasive wearable device can currently deliver. By testing everything from gut flora to white blood cells, they promise customized diet, exercise, and lifestyle regimens that can-in theory, at least-help us "optimize" (an industry buzzword, to be sure) our innermost workings.
TRUE BLOOD
In 2009, a trio of PhDs-Gil Blander, David Lester, and Christian Reich-founded InsideTracker, a service that analyzes blood biomarkers, molecules associated with vitamin and mineral levels,
hormonal activity, and so on. The platform's first core group of users were professional athletes (including, Blander says, "hundreds, maybe even thousands, of CrossFitters") seeking to improve their performance, but they've since expanded to a much wider demographic. "Most of our users are in their thirties, forties, and fifties, because at that age you see you are not immortal," he says. "But some just want to lose weight; some want to sleep better."
Here's how it works: Your blood sample (drawn at any Quest Diagnostics clinic or, for an extra fee, in your home by a licensed phlebotomist) is scanned for markers such as cholesterol, cortisol, testosterone, glucose, and vitamin B12, the results of which can then be viewed online. Taking into account one's age, gender, ethnicity, and activity level, you get a list of foods, vitamins, or exercise programs-all drawn from peer-reviewed scientific studies and vetted by scientists, nutritionists, physiologists, and biologists from the likes of Harvard, Tufts, and MIT-that should help move the needle, so to speak, on whatever markers are less than optimal. To lower my elevated LDL cholesterol, for example, I'm told to consider eating more beans, starting a high-intensity interval-training program, and supplementing with berberine, a plant-derived alkaloid with a raft of studies showing it improves cardiovascular health.
Although Blander emphasizes that InsideTracker is "a wellness solution, not a medical solution" (the service doesn't test biomarkers related directly to disease, and the rare user who receives a red-alert result will be sent a direct e-mail suggesting they make a doctor's appointment), he believes that the ability to scrutinize changes in one's biochemistry empowers users to safeguard their own health. "After the car industry started recommending routine maintenance in the 1980s, the life span of a car increased from around 100,000 miles to 200,000 miles," he says. "So my hope and my belief is that just by doing InsideTracker, we might be able to increase our longevity and our quality of life using simple interventions." Already, Blander says, "many" users (he doesn't disclose the percentage) have shifted from diabetic to prediabetic status, or from prediabetic to normal glucose levels, after following the recommendations; and although 60 percent of users are initially found to be biologically older than their chronological age in the platform's InnerAge analysis-based on the five biomarkers most associated with longevity-many test younger each time they run further blood work.
And yes, there will be further blood work. As with wearable monitors, there's a gaming aspect to InsideTracker: Of course you'll want to do another round of testing in three months, and maybe again after that, so that you can see just how optimized you've become. This vigilance doesn't come cheap: InsideTracker's Ultimate kit, which gives the most thorough analysis, starts at $499. (The other big player in blood biomarkers, WellnessFX, offers a $925 Premium package, which tests an expanded range of fertility hormones and thyroid functions and includes a 40-minute consultation with an MD, who gives, according to the website, "concierge-level recommendations.")
In addition to the vitamin D deficit, my first InsideTracker screening showed low iron levels. So I dutifully consumed more peanut butter and spinach, and made sure not to eat iron-rich foods at the same time as calcium-rich foods (they can compete for absorption). When I had a follow-up test, I saw modest improvement in the ferritin marker, but others had gone awry-now I suddenly had the aforementioned high cholesterol, as well as a slight spike in ALT, an enzyme that can signal liver damage. I felt a surge of panic. Was it that ill-advised week of nightly cocktails? The cheeseburger I ate the night before the test? Though Blander tells me the changes are so small it could have been either, I couldn't help but worry that it was something worse. I ordered umpteen supplements from Amazon, next-day delivery, and vowed never to drink again (that didn't last). I felt consumed by the urge to course-correct, be perfect, be, yes, optimized. But guess what? The only way to know if I've gotten everything back on track is to get tested again. Ka-ching!
GENE GENIES
Whereas a blood test can give you a snapshot of internal biological processes that change day to day-and can be modified by lifestyle choices-genetics tell you what you can't alter but can, in some cases, be able to work around. For example, if you carry a gene that indicates you'll benefit more from high-intensity training than from cardio, you won't waste any more time on the treadmill. One such home-testing system, FitnessGenes, provides personalized workout plans as well as advice on things like what time of day you should train, based on whether you carry variants that can affect circadian rhythm; another, DNAFit, customizes a nutrition plan based on your genetically determined responses to carbs, saturated fat, and lactose.
Boston-based biotech start-up ORIG3N currently offers three hyperspecialized LifeProfile kits: FitCode (which tests genes related to athletic performance for $149), Aura (skin condition and aging; $99)and Superhero (outlier genes, such as those that signal fast-twitch muscle reflexes and accelerated learning capacity; $29). When I visit ORIG3N's slick, light-filled lab in Boston's Innovation District, the hub of the booming East Coast biotech biz, the company's scientists put my cheek-swab sample to the Superhero test using an automated genotyping machine-and find that I am disappointingly unremarkable. While ORIG3N's kits don't give specifically actionable advice, such as whether you should be doing bench presses or sprints, they do tell you how your gene variants compare to the rest of the population. For example, my results show that I am mostly average in things like sun sensitivity and postworkout muscle recovery, but I do carry a single nucleotide polymorphism, found in only 5 percent of the population, that may make me extrasensitive to dietary sugar (finally, an excuse to skip dessert). This type of testing, CEO Robin Y. Smith says, "is lively and fun. It's a great icebreaker into the world of genetics, because it's not doing it in a way that's scary or medical. People are like, 'Hey, this is a really cool thing to know about myself.' "
Interestingly, the LifeProfile kits are only a small part of ORIG3N's work: The company's main project, called LifeCapsule, is focused on cryogenically banking adult stem cells for use in scientific research. Derived from the blood of adult donors, these blank-slate, or pluripotent, cells can be used to grow new heart, nerve, or liver cells in vitro. (The enthusiastic ORIG3N team shows me, under a microscope, how the cells retain the biochemical characteristics of their original owners: Turns out a stem cell taken from a patient with cardiac arrhythmia will, if made into a heart cell, pulse with the exact same arrhythmia.) Their use of adult-derived stem cells-based on Nobel Prize–winning technology developed in 2006 by Japanese scientist Shinya Yamanaka-alleviates ethical issues associated with using tissue derived from human embryos, and enables researchers and pharmaceutical companies to directly test the toxicity of medications on living, responsive human cells, rather than running less-reliable trials on mice.
Smith likens the current state of regenerative medicine to the Internet of the '90s. "In 1999, all these regular consumers were saying, 'What is this Internet thing?' It seemed to come out of nowhere, but in actuality people had been working on it for 15 years," he says. "In about five years, things like spinal repair, cardiac repair, and growing your own tissue outside of your body are going to happen. We're laying the foundations for that."
In ORIG3N's big-picture vision, the genetic data gathered from the LifeProfile kits will work in concert with the stem cell bio-repository (several large tanks, humming along the wall of a lab, already contain thousands of samples) to assist in the study of diseases such as Parkinson's and Alzheimer's, enabling scientists to compare ages and populations as well as chromosomal variations to find a cure. Their faith in this mission is so compelling, in fact, that at their labs I end up donating blood to LifeCapsule and signing a consent form saying that they can do absolutely anything with my cells (divorced, I am assured, from my identity) in the pursuit of research. I can't say for sure, but I think I might have agreed to be cloned.
BUGGING OUT
At this point, even non-kombucha drinkers know the importance of our microbiome-the bazillions of bacteria that live on and in our bodies, believed to influence everything from our weight to our moods to our propensity to develop certain diseases. To send some of my internal critters off to San Francisco–based uBiome, which sequences individual microbial DNA, I follow instructions to swab used toilet paper (sorry for that image), swish the swab around in a fixing
solution, try not to gag, and send it away. The company offers two options: a gut-only test (the aforementioned yuck swab; $89), or a five-site test, for which you also swab the nose, behind your ears, mouth, and genitals ($399). uBiome analyzes which bacteria species you host and in what proportions, then reveals how your flora stacks up against that of, say, a vegetarian, a heavy drinker, or an omnivore. It's a fascinating in-depth portal into your own ecosystem, but while the company provides info on the health benefit (or detriment) with which each type of bacteria is associated (Bacteroidetes, for example, may protect against obesity; Firmicutes, which tend to be dominant in American samples, are linked to weight gain), it stops short-like all of these highly regulated at-home tests-of rendering medical diagnoses.
"We can tell you how your probiotic is working, how diverse your microbiome is, and how it changes over time in response to the foods you eat and lifestyle changes like exercising more or drinking more water," says cofounder Jessica Richman, an Oxford-educated PhD. "But for regulatory reasons, we can't tell people what's in their microbiome with a high level of specificity without having a doctor's prescription." Soon, though, uBiome plans to release a clinical test for physicians to administer, which, she says, "will have much more detail about pathogens and more prescriptive health advice." In theory, your doctor could use such a kit to prescribe a customized probiotic blend or identify an illness.
uBiome is essentially crowd-funded, having launched after raising more than $350,000 from roughly 2,500 Indiegogo backers in 2013. In keeping with that, it is working for the greater good-opening up its accumulated data to researchers at Harvard, Johns Hopkins, and Stanford, and establishing a platform for what Richman calls "citizen science": Amateur enthusiasts can suggest or help organize studies to be undertaken by uBiome's research partners. (Any uBiome user can opt in or out of these studies when sending in their sample.) Current examples on the uBiome site: an inflammatory bowel disease study, an examination of the oral microbes of smokers, and a deep dive into "eye crusties."
THE BIG PICTURE
In an interesting intersection between narcissism and altruism, the ultimate outcome of all of this incessant testing may be better-quality studies, increasingly expeditious drug trials, and better health care for all. Apple is already sharing much of the mind-boggling amount of health data it collects with researchers via the Apple ResearchKit, a program allowing iPhone and Apple Watch users to opt in to various studies. With such humongous data sets to draw from, scientists will soon be able to study human biology in a much different, more inclusive way than ever before.
Elizabeth Iorns, PhD, the cofounder of Science Exchange, a Silicon Valley start-up that acts as a marketplace for shared science experiments, refers to a recent study by Pfizer and Massachusetts General Hospital that tapped into 23andMe's data to identify 17 genetic markers linked to depression: "1.2 million people have had their genotyping done by 23andMe, and most have allowed their results to be used for medical research. That scale is super- interesting because you can answer questions with large sample sizes better than the traditional way we do research, where you have to collect the patients and it takes years and years. Now we're crowd-sourcing it."
It also empowers patients, arming them with information that was previously kept in various doctors' offices-as well as interlinking data that used to be siloed. "I don't think it's too grandiose to say that it's like the printing press," says uBiome's Richman, "in that you used to have the one book that was owned by the church, and you had to go to the church to read the book and get the official answer. Before the Internet, you had to go to the doctor to get the answer because the doctor had studied for many years and could give you an answer. Now we can all have access to that kind of information. That doesn't mean that doctors aren't valuable-it will always be true that someone who spends 30 years working on something will know a lot more than anyone else-but as a type of massive social change, I think health care will be controlled by the patients. We're the ones who care most about our health."
Will we live longer, healthier lives as a result? That remains to be seen. In my experience, there's still something a little unsatisfying about these tests, both together and separately. I now have all of these little pieces of myself, like a puzzle, but really, where am I in there? To echo King Lear, who is it that can tell me who I am? My acidophilus? A protein swimming in my bloodstream? Something in the wisp and whorl of my DNA strands? We all want the big answers: Is there some specter of disease that lurks microscopically in my mitochondria that will change my life? What is in my control and what is beyond it? At this point, none of these tests can tell us any of this. What they can do, to take a positive spin, is tell us how superhuman it's possible for us to become-or, at the very least, guide us toward making more-informed choices. If you know you're genetically prone to getting sunspots, maybe you'll be more vigilant about SPF; if you know you're metabolically sensitive to caffeine, maybe you'll lay off the Red Bull. Perhaps it's just that simple. They give us information and tools-the rest is up to us.
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