Genetic tests can provide "aha!" health momentsMerla/ShutterstockAlix, a working mother in Seattle, had been troubled by symptoms of chronic fatigue, repeated illness, and "stabbing" pains in her abdomen since childhood (here are some possible medical reasons for such stomach pains). Over the years, multiple doctors running multiple tests were unable to find a cause, and often told her the problems must be in her head. Finally after especially bad stomach pains prompted a rush to the emergency room, Alix turned to 23andMe, a personal genetics company. She ordered a kit that involved collecting a saliva sample and sending it back to the company, which then provided a genetic analysis. The results indicated it was very likely that she suffered from lactose intolerance. After over 40 years of pain and confusion, Alix says her symptoms "all made sense." She changed her diet, and now feels so much better that it's as if she has a "new body" and is finally able to fully enjoy life with her family.
DNA testing is increasingly going DIYImage Point Fr/ShutterstockDirect-to-consumer (DTC) genetic testing—which allows customers to purchase genetic analysis themselves without going through a healthcare provider—is catching on in a big way. In April, the FDA granted 23andMe approval to sell consumers reports that reveal their genetic risk for 10 conditions, including Parkinson's disease, late-onset Alzheimer's disease, celiac disease, hereditary thrombophilia, and more. "Healthcare is becoming more and more consumer-driven over time," says Mary Freivogel, MS, CGC, National Society of Genetic Counselors President and cancer expert. "Direct-to-consumer genetic testing is likely here to stay and expand dramatically over the next five years." Indeed, 23andMe, along with other companies, such as Color and Counsyl, offer genetic testing (sometimes requiring physician involvement) in areas that include wellness characteristics (like sleep and weight), carrier status (for diseases like cycstic fibrosis), inherited cancer risk, and even ancestral background. Discover 7 ways your genes impact your drinking habits.
Genetics are only part of the storyscience photo/ShutterstockAlthough it's like cracking a secret code to learn which ailments your DNA may or may not have in store, your genes aren't the only elements determining whether you'll one day be diagnosed with a condition. "Developing a disease is a complex interaction of genetic factors, environmental factors, and even just pure chance," says Freivogel. Indeed, many of the conditions DTC testing looks for, such as late-onset Alzheimer's disease, have factors that also include lifestyle and family history, points out Kelly Querfurth Minks, MS, CGC, a genetic counselor at the University of Rochester Medical Center. "DTC testing reports only the presence or absence of the genetic variations associated with these conditions and cannot factor in non-genetic factors," Minks explains. "Therefore, DTC testing can provide someone only with a risk assessment and cannot accurately predict whether someone will or will not develop disease." Discover everyday habits that can reduce your risk of dementia.
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Testing can prompt healthier habitsESB Professional/ShutterstockThere are some important advantages to knowing your own genetic information. "We believe people should be able to choose to have access to their genetic information without a prescription; it's always been core to our mission," says Jhulianna Cintron, a product specialist on the consumer care team of 23andMe. "Individuals can choose to use that information to take a more active role in their health by engaging in more meaningful discussions with their healthcare provider or simply becoming more motivated to take steps to a healthier life." Indeed, a 2017 study found that DTC personal genomic testing was "associated with modest, mostly positive changes in diet and exercise." These are the health secrets your body is trying to tell you.
Some healthcare providers are concernedAndrei R/ShutterstockDTC genetic testing can have a positive impact on your health—but only when the results and their context are correctly understood, says Minks. "Genetic testing, when ordered by an individual without the support of a health care professional, is potentially harmful because results may be misinterpreted and used inappropriately," she says. In addition, such testing could increase medical costs without much benefit, because they may lead to additional medical appointments from people wanting to know if they have any disorders that certain risks could indicate, according to Professor Gail Jarvik, MD, PhD, Head of Medical Genetics at the University of Washington, Seattle. "Our clinic has already had patients asking to make appointments to have test results explained to them," says Dr. Jarvik. "There is a shortage of medical geneticists, and many primary care providers will not be able to explain how these tests work, how reliable they are, and what the next steps should be."
A genetic test result doesn't guarantee you will or won't get a diseaseAlexander Raths/ShutterstockIf there's one point on which all can agree, it's that such genetic tests aren't a crystal ball. "They will not tell you whether you will or won't get a disease," says Freivogel. "They will only inform you of risks which, in many instances, are quite broad." The team from 23andMe is also clear on this point. "Not everyone with a genetic risk variant or family history will develop the associated health condition. And also the reverse is true: The discovery that you don't have a particular variant does not mean you have zero risk for a disorder," says Stacey Detweiler, MS, LCGC, medical affairs associate and genetic counselor for 23andMe. "It's important to remember that 23andMe tests can provide important genetic information but do not actually diagnose any health conditions."
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Know what to do with the resultsNikolaev Mikhail/ShutterstockExperts agree that in order to understand the full implications of test results regarding risk for a particular disease, it's best to enlist the help of a professional. "The first positive action customers can take is to share this information with their health care provider because, with their help, individuals may be able to reduce risk by managing non-genetic risk factors," says Detweiler. "Examples of that might include modifying diet, increasing physical activity, or limiting exposure to things in their environment." It may help to seek that professional support even before purchasing a genetic test. "Consulting with a genetic counselor when pursuing genetic testing can help ensure you understand the benefits and limitations of the testing, are prepared for the results, and appreciate how those results may affect not only you, but your relatives," says Freivogel. You can find a genetic counselor through the National Society of Genetic Counselors.
Sometimes, there's nothing you can do with resultsDragon Images/ShutterstockIn some cases, testing may provide you with troubling information you can't do anything about. "Many conditions and diseases currently being tested for have no effective treatment or cure, and consumers should first consider their reasons and goals of testing," says Minks. Indeed, receiving such a result could be upsetting, making it all the more important to get perspective from a pro. "Consumers who are uncomfortable with uncertainty and those who aren't sure they would want to know their risk for a non-preventable disease should also strongly consider genetic counseling before undergoing a genetic test," adds Freivogel.
Share your results with relativesDiego Cervo/ShutterstockKeep in mind that your test results are not yours alone. "Results not only have implications for your health, but also for the health of your relatives, including aunts, uncles, and cousins," says Freivogel. "Be prepared to share this information with your family."
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