Genetic Testing: The Story of You
Genetic tests offer a peek into every aspect of who you are. But can you handle the truth?
Buying an at-home genetic test is a lot like taking a trip in a time machine (crazy professor not required). You can rocket back to the past and find out about your ancestors, return to the present to discover how your DNA impacts your sleep schedule, or travel to the
future to understand your disease risk. And just like in the movies, that trip might end up being a rocky ride.
While there are plenty of heartwarming stories of reunited families circulating the interwebs, scary headlines about questioned parentage, denied life insurance policies and genetic information theft abound too. “DNA testing has made it possible to know more about yourself and your family than ever before,” says Brianne Kirkpatrick, genetic counselor and founder of Watershed DNA. “But before undergoing testing, you might want to ask yourself, ‘Am I ready for everything it might reveal or expose me to?’ ”
ast year, I was ready. Despite the potential pitfalls (I know my dad was unfaithful—more on that later) curiosity won out and I stepped into my personal time machine. By just spitting into a tube, putting it in the mail and clicking around online, I’ve learned about everything from how well I handle alcohol to why I’m prone to allergies to who else is in my family tree. I also learned the limitations of these tests and how to best approach the entire process.
Every genetic examination—whether you order it online, buy it from a drugstore or do it at your doctor’s office—starts the trip of a lifetime, with much to consider along the way. Allow me to share some advice as you decide whether to make the journey.
Tip One: Resolve To Ditch Regret
No matter what your test results, don’t panic that you missed out on being the next Mozart. While studies have found markers for musical ability, for example, that doesn’t mean a genetic test can predict whether you could’ve been a piano prodigy. “Genetics is really just one piece of the puzzle,” says Mary Freivogel, immediate past president of the National Society of Genetic Counselors. “Environment and lifestyle play big roles too. How predictive these tests are at this point is fairly limited.” And, hey, even if it’s too late to train for Wimbledon, companies like FitnessGenes design genetically tailored home workouts based on how your body metabolizes food and reacts to different types of exercise.
Tip Two: Realize that Risk Is Complicated…
Even a high-risk genetic mutation (like a BRCA) doesn’t mean you’ll definitely get breast cancer. “You’re at significantly increased risk, but it’s not 100%,” says Erynn Gordon, genetic counselor and vice president of clinical operations for Genome Medical. “We certainly see patients who carry one of those mutations and never develop cancer.” On the flip side, you can test negative for the BRCA gene markers and still be diagnosed with breast cancer. “These tests aren’t black or white. All they show is potential risk,” says advanced genetic nurse Suzanne Mahon, a professor of internal medicine at Saint Louis University Cancer Center. “I always tell patients they are trading one unknown for the other.”
Similarly, 23andMe, for example, tracks some—but not all—genes associated with late-onset Alzheimer’s and Parkinson’s disease, among others. Testing negative simply means you have none of those variants—but you could have others.
Tip Three… And So Is Genealogy
Each company groups ancestries uniquely, says genetic genealogist CeCe Moore, because they use different reference populations and varying ways of calculating results. For example, while Ancestry melds Italy with Greece into a main region, 23andMe lists Italy separately. “People write to me and say, ‘My parents must not be my parents because my test says I don’t have 50% Italian.’ But the test will say they have 50% southern European, which to me means the same thing,” says Moore.
Tip Four: Get Ready To Do Some Work
If you’re looking to leaf out your family tree, you may need more research to sort through relatives or some help interpreting the results. Facebook has several groups on genetic genealogy, including DNA Detectives and Genetic Genealogy Tips & Techniques. These are closed groups, so you’ll need the moderator’s permission to join: Go to the page, click “Join Group” and answer some questions. You can also take your raw data from some direct-to-consumer companies and upload it to websites that offer a deeper dive into ethnicity, family trees or genetic health such as Promethease and GEDmatch. Just note that you won’t get estimates of disease risk, for example.
5 Questions to Ask Yourself Before Unraveling Your DNA
What will I do with the results?
Would finding an inherited risk of heart disease, breast cancer or obesity, for example, make you change your health habits? “Studies have shown people are getting their results and thinking, ‘Hmm, that’s interesting.’ And then not doing anything differently,” says Freivogel. “But in many cases, knowledge is power, and seeing a health professional can lead people to make lifestyle changes.”
What’s actually on the test?
If you’re curious to find out which part of West Africa you might be from, take time to learn whether those specific details are included in the package. Genetic counselors I spoke with said that people often ask if they’re risk-free when cancer risk doesn’t come up on their 23andMe results. But 23andMe doesn’t test for those particular gene markers at all. “It’s worth the effort to take your time
and investigate,” says Mahon.
What about privacy?
“Practices are not standard,” says Blaine Bettinger, PhD, JD, a professional genealogist. Carefully read the terms of service so you can understand how your DNA sample will and won’t be used. Find the paragraph that describes what consent entails, learn whether the company keeps or destroys your DNA sample after it’s analyzed, and ask whether the company uses your anonymized samples for other types of studies. Because your name is usually attached to the results, you’ll want to figure out which information the company may share with your genetic cousins in its database. Some companies allow you to opt out of that type of matching.
Can I handle the answer?
In 2012 a woman in Vancouver, WA, found out that her Irish biological father had been switched in the hospital with a Jewish baby. Last year a California mom who thought she was an only child learned that she was conceived by a sperm donor and actually had three half-siblings. DNA tests can bring surprises you can’t unlearn. At least try to think about how you might react before you uncover a health concern or a new leaf on your tree—not after.
What about genetic discrimination?
The Genetic Information Nondiscrimination Act of 2008 (GINA) is federal legislation designed to protect you against discrimination in health insurance and employment—but not life, disability or long-term care insurance. “GINA offers good protection but it’s not perfect. Any day somebody could come along and undo the legislation,” says Bettinger. If you’re interested in life, disability or long-term care insurance and the test includes health information, purchase your insurance before
DNA Decoded for Your Genealogy
A breakdown of the best tests for filling out your family tree
DNA Decoded for Your Health
Each of us is unique because of differences in how our DNA is arranged. These differences, or markers, act like tiny gossips that whisper to scientists about who our relatives are and whether we’re at risk for certain diseases. Three of the top companies that look for those markers include:
This company provides the only FDA-approved genetic health reports you can order without a doctor that reveal risk assessment for conditions including late-onset Alzheimer’s disease, macular degeneration and Parkinson’s. But it doesn’t provide genetic testing for high-risk adult-onset gene markers such as cancer or have a genetic counselor in-house, although it does provide links to resources.
Helix sequences a large swath of your genes for one price and stores the data in your account. Then you purchase different products from their store to interpret the genetic data depending on what you’re interested in: pre-conception carrier screening, how you might respond to certain foods, whether you’re genetically inclined to be a night owl and much more. You can even get art or a neck scarf personalized by your DNA. Genetic counselors, if appropriate, are included in the app.
Cost: $80 one-time fee for initial genetic analysis. Products range from $10 to $260.
If you’re looking for inherited risk of common conditions and want the results at home, Color’s three tests cover breast cancer (BRCA mutations), other hereditary cancers and hereditary high cholesterol. What’s not included: markers for early-onset Alzheimer’s or other neurological conditions. You’ll need approval from your doctor or Color’s independent third-party network of physicians to order the test.
Cost: $99 for BRCA test, $249 for Hereditary Cancer Test, $249 for Hereditary Cholesterol Test
Not every test is a jack-of-all-trades. Several specialize in one area alone. Rx-Precision, for example, offers a pharmacogenomics test. With the help of your doctor, it reveals how your genes interact with common drugs—such as those for depression, heart disease, pain and oncology—so that you can adjust your dosage.
My DNA Diary
Not long after my test results came in, I was preparing dinner and grabbed a bottle of my favorite red. Then I put it back. I’ve always watched how much I drink because my father was an alcoholic. But this time, rather than pour myself a glass, I thought about not only his worst days but also the drug metabolism test I took that came up with a caution for ethanol for two different genetic markers. That steak was going to need a different pairing.
I didn’t opt for genetic testing to transform myself into a teetotaler. I was actually hoping for some insight into getting fit after years of skipped workouts and stress-filled days as a caretaker for my mother. The good news: I carry markers associated with endurance and muscle strength, and one associated with elite speed and power athletes (ego boost!). A clock gene pegs me as a night owl (wrong! I’m barely awake past sunset) and a fitness test revealed that carbs truly aren’t my friend (but, really, are they anyone’s?!).
I dodged any high-risk hereditary genes for diseases like cancer and, thankfully, even though I know my father ran around, I didn’t uncover any half-siblings. (I’m not looking very hard, though.) I was also delighted to learn that my Italian-loaded genes carry Neanderthal DNA, which, aside from being fun, could explain my allergies. (Humans and Neanderthals found romance, so our DNA is still mingled.)
Even though I didn’t need genetic testing to tell me to watch my alcohol—or carbs—I’ve used the results to change my life. I replaced dinner rolls with roasted veggies and I’m trying to stop eating sugar. Also brief, high-intensity workouts are my newest pal.
But in case you’re wondering, I still enjoy a glass of wine—now and then.