Before you send off your vial of saliva, you should decide what you’ll do with the information (what if it’s bad news?) and what the privacy implications are. Granted, your genetic risk isn’t your health destiny—your age, gender, family history, and lifestyle all play roles too. “Genetics can’t tell you whether you will or won’t get a disease,” says Mary Freivogel, a genetic counselor at Invitae and past president of the National Society of Genetic Counselors. But a test can keep you informed.
The Pros
First and foremost, at-home medical genetic testing kits are pretty easy. Companies use the spit-in-a-tube method or something equally painless—no needle or blood test required. And the results will help you learn more about your DNA. That’s a good thing: Genes are fixed at birth, so you can use this information throughout your life. Medicine is already becoming highly personalized—for instance, cancer therapies can be based on the genetic makeup of a tumor, and tests can help predict how your body will react to certain medications. And it’s likely to become even more so: “We’re heading toward a time when anybody who enters a hospital will have their DNA sequence performed,” says geneticist Matthew Ferber, PhD, director of the Mayo Clinic GeneGuide lab. If you know you’re at increased risk for certain diseases, you may be able to find ways to lower that risk. And if you have your genetic data on hand, you’ll be more ready to take advantage of new discoveries as researchers make them. Just 10 years ago, women who were positive for BRCA2 mutations had the option of preventive surgery to remove their ovaries and breasts. But thanks to more research, “today we’d also talk to them about melanoma and pancreatic cancer screening, and we would probably adjust their colon cancer screening schedule,” says Suzanne Mahon, RN, a genetic counselor and professor in internal medicine at Saint Louis University.
Think About Privacy
Before doing one of the tests, consider your privacy—and your future insurance needs. True, the Genetic Information Nondiscrimination Act of 2008 (GINA) protects you against discrimination by employers and health insurers based on DNA information revealed by genetic tests. But that protection does not extend to life, disability, or long-term-care insurance, so you might want to buy those policies before testing. The various testing companies all have privacy policies, but each one is different. If you read the long statements full of legalese and are still confused (you’re not alone!), call the customer care team and ask for clarifications and explanations. Remember, too, that the companies’ privacy policies may change—as can laws—and online data breaches happen all too often. Plus, as soon as you share any results on social media or ancestry websites, that information is no longer protected by a privacy policy. It’s a lot to think about—especially when the hypothetical concerns about privacy are offset by the leaps and bounds medical research takes when more and more people do the testing. Researchers love DNA—it helps them find clues to the cause of diseases, and it helps them discover cures and develop new drugs. If you allow your DNA to be used for research—usually by clicking “agree” when you sign up for testing—steps are taken to keep your identity private (though all the caveats above still apply).
Select the Right Kit
Before committing to one kit, decide what you want to get out of it. If you’re just curious about your genealogy and want to learn interesting tidbits about your health, you might opt for a test by 23andMe or MyHeritage. These companies, which do both ancestry and health screenings, test for “hot spots” across your data rather than running a comprehensive test for every genetic risk factor. So 23andMe, for example, looks for three common genetic changes out of the thousands that can increase your risk for breast cancer. The quality of the data and interpretation from these services is high, says Mayo’s Ferber, but you would of course double-check any positive result with a more specific test administered by a health care professional. If you have more serious questions or hunches—you suspect you have an inherited risk for a particular disease, say—then consider tests from companies like Color, Invitae, or Helix, which provide options to target different areas of your health. Color offers a test that gives information about your risk for some cancers, as well as about how your body processes certain medications. Helix offers a range of kits from smaller biotech companies. You can order Mayo Clinic’s GeneGuide, for example, which is partly a tutorial on genes and health but also gives information on certain conditions you may carry (such as cystic fibrosis) or how ibuprofen affects you. If you want to know more—and are willing to spend more—Veritas sequences your whole genome and shows your risk for cancer and heart disease, in addition to revealing lots of other health and ancestry information. Remember to check the cost: You get what you pay for in terms of thoroughness, and some of the most in-depth tests run up to several hundred dollars. (Find out if you can use your flex spending or HSA funds.)
Call Early for Backup
If you have more questions, consider talking to a freelance genetic counselor before you test. These specialists (who’ve studied genetic counseling in graduate school and completed a rigorous certification process) can help you understand the benefits, limitations, and risks and make sure you choose the right test for your needs. They can also walk you through possible outcomes and assuage any worries you might have about testing. “Pretest counseling helps prevent problems on the back end,” explains Saint Louis University’s Mahon. “We can talk about how you might manage various results scenarios and even family dynamics.” If you end up opting not to test, that’s fine—a counselor won’t pressure you. “At least you’re making an informed choice,” says Freivogel. Genetic counselors also help interpret results. Check out the National Society of Genetic Counselors to find resources and a counselor near you (or one who can do a phone consultation).
Understand Risk
Just because a genetic test shows a positive result doesn’t mean you’re bound to get the condition (or guaranteed not to, if the result is negative). Still, the information might send you down an unexpected path. If you find out you have a high risk for heart disease, your doctor may suggest prophylactic cholesterol medication, and you’ll have to weigh the risks and benefits of taking the drug. For some cancer-related results, you may need anything from immediate risk-reducing treatment to intensive surveillance. You may also need to tell family what you discovered. Because of all this, consider how you want to learn the results. With 23andMe, results come via email, and genetic counseling is not included. MyHeritage may include a session with a genetic counselor, depending on your results, while Color and Invitae provide access to a counselor no matter your results. If one or more of your genes test positive for high-risk changes on a clinical-grade test, your doctor or a genetic counselor will talk you through the results and guide you and your family on preventive care.
Talk to Family
At its heart, genetic testing is about families. You aren’t the only person whose life could change based on what you learn. If you uncover a risk, your close family members will need to decide whether they want to be tested and how to move forward. Use that pretest session with a genetic counselor to find the best way to discuss the subject with your family. “People need to understand that this isn’t always an easy decision,” says Freivogel. There are no formal guidelines for talking to family members, and much depends on how your family communicates difficult information. Freivogel suggests saying something like this: “I’m going to do a health-related genetic test. If I find out I have a gene that predisposes me to a certain disease, do you want me to share that with you?” Once you’ve asked this question, employ your best listening skills: Make eye contact and paraphrase their concerns back to them. “Say, ‘Talking about cancer can be hard,’” suggests Joann Bodurtha, MD, MPH, professor of genetic medicine at Johns Hopkins School of Medicine. If a test comes back positive and your relatives have said they want to hear your results, try this wording from Laura Panos Smith, a genetic counselor at the Ambry Genetics lab in Aliso Viejo, California: “I have a change or mutation in a gene that puts me at higher risk for certain types of cancer. It’s not a guarantee I’ll develop cancer, but it does mean your risk may be increased too. There are things we can do to find cancer earlier and steps we can take to reduce the risk of cancer developing.” Then, like so many things in life, you’ll face it together.
