Considering genetic testing? Here’s what you need to know before you dive in.
It seems like everywhere you look these days, you hear about genetic testing. Some pharmacies are selling genetic testing kits; mail order labs will analyze a swab of your mouth for markers of everything from Alzheimer’s to diabetes, or to predict how well you respond to medications such as cholesterol-lowering statins. Groupon has even offered discounts for tests that can determine if you carry the so-called “warrior gene” that’s connected to aggression, or are at risk for cellulite or male pattern baldness.
But is there such a thing as TMI—too much information—when it comes to your genes, or can genetic testing really be valuable? Here we answer some common questions about it.
Why are genetic tests done? “The purpose of genetic testing is to better assess a person’s chances of having a disease or passing it on to their children,” says Rebecca Nagy, president-elect of the National Society of Genetic Counselors. Knowing you carry a genetic mutation for a disease may help you prevent it with medication or lifestyle changes. Or it will allow you to get the right type of screening so that a disease can be caught at an early stage. If you carry a mutation for a disease whose course can’t be changed, you can plan for your future.
What is involved? A genetic test usually requires a blood sample. But testing can also be done on hair, skin, amniotic fluid or tissue—by swabbing the inside of your cheek, for example. Most tests are automated, meaning they’re run through a machine that looks for changes in chromosomes, DNA or proteins. Depending on the test, it can take one to four weeks to get results.
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Are genetic tests covered by insurance? Genetic tests range in price from less than $100 to more than $2000.The cost of direct-to-consumer (DTC) tests is typically out of pocket. Depending upon your insurer, a test ordered by your doctor may be covered if she can prove it’s medically necessary.
Should you check with a healthcare professional before you get a DTC genetic test? “If a genetic test is going to give you ‘medically actionable information,’ we recommend speaking with a genetic professional or doctor before getting tested,” says Nagy, a certified genetic counselor and associate professor of clinical internal medicine at Ohio State University Medical Center in Columbus. First, consider what you will do with the information you receive. “If there is nothing you can do to change the course of a disease, do you want to know you carry the genetic mutation for it?’ she asks. If you want that information, when and how do you want to learn it? “These are issues an expert will go over with you beforehand,” she says.
A genetic counselor can also put test results in perspective. For example, a company may only test for one percent of the genetic causes of, say, Alzheimer’s disease. So the test won’t give you an accurate picture of your risk. And even if you don’t carry the genetic mutation for a specific condition, it doesn’t mean you won’t get it. Nagy describes a man with a strong family history of heart disease whose DTC genetic test showed he was at average risk for heart problems. However, his family history indicated otherwise. “The genetic test didn’t capture that,” says Nagy. One thing to keep in mind: Consulting an expert doesn’t necessarily mean you will end up getting a genetic test. Learning the risks, benefits and limitations of testing can “help you figure out if it’s something you need to think about or want,” says Nagy.
Are DTC genetic tests reliable? “Many complex diseases like heart disease, diabetes, Alzheimer’s and cancer are not single gene disorders,” says Nagy. “They’re caused by genetic mutations as well as environmental and lifestyle factors. For most diseases, there isn’t one single test that will give every person a clear answer.”
A company that offers DTC genetic tests often emphasizes the benefits of testing and downplays risks or limitations. An analysis of websites for 23 genetic testing companies published in the Journal of Genetic Counseling reported that statements about the benefits of testing outweighed statements about risks by a six-to-one margin.
What will I do with the information once I have it? “The results of a genetic test can be scary or empowering,” says Nagy, who works in the field of cancer genetics. Many people who get tested have over-inflated their risk, she says. “They feel it’s a matter of time until they get the disease,” she adds. Learning they don’t carry the genetic mutation and that their risk is the same as the average person’s is reassuring. If, on the other hand, they find out that they carry a mutation, they can take steps to lower their risk
Can I be discriminated against if I carry the gene for a disease? The Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule, signed into law in 1996, guarantees that your health information won’t be shared with others. Also, the Genetic Information Nondiscrimination Act (GINA) of 2008 made it illegal to deny people employment or health insurance based on genetic information. “Your insurance company can’t deny or drop your coverage based on a genetic test,” says Nagy. “And most employers can’t use the results of a genetic test against you when making decisions about hiring, firing or promoting.” Some exceptions: Businesses with fewer than 15 employees or military personnel may not be protected by GINA, notes Nagy.
How can I find a genetic counselor? A genetic counselor typically has a master’s degree in medical genetics and counseling. A clinical geneticist is a physician who completes a medical genetics residency. Both can interpret the results of a genetic test and help you understand them. To find a genetic counselor, visit the National Society of Genetic Counselors at www.nsgc.org and click on “Find a Genetic Counselor.” To find a medical geneticist, visit the American College of Medical Genetics and Genomics at www.acmg.net and click on the link “Find Genetic Services.”