When Angelina Jolie recently revealed that her decision to undergo a double mastectomy stemmed directly from the fact that she’d tested positive for a BRCA1 gene mutation—putting her at a nearly 90% risk of developing breast cancer—it turned genetic testing into a hot topic practically overnight.
Ever since the human genome was unraveled a decade ago, research in the field of genetics has advanced rapidly. Ten years ago, you could take a test to find genetic links for about 900 diseases—today, that number is more than 2,500. And what was once considered an expensive procedure that could only be administered in a medical setting can now cost as little as $100 for a DNA test you can take at home.
But while it’s true that genetic testing can provide important information for diagnosing, treating and, in Jolie’s case, even preventing diseases, it’s not always clear which tests are really worth getting. So before you decide to follow the Hollywood starlet’s example, check out our guide to testing the genetic waters.
Genetic Basics: The Two Types of Tests
Want to find out if you’re at risk of developing osteoarthritis, psoriasis or celiac disease? Nowadays, anyone can unlock such secrets concealed within their DNA with an at-home kit. In fact, for just $99, you can purchase one online from the California-based personal genetics company 23andMe. Simply mail in a saliva sample, and six to eight weeks later, your genetic fortune is at your fingertips.
But proceed with caution: These direct-to-consumer tests only look at common markers, rather than read all of the variations in a gene, and they can be hard to fully interpret without additional input from a doctor or trained genetic counselor. And while the industry is expanding exponentially, the tests are poorly standardized, largely unregulated (none are FDA-approved) and typically not covered by insurance.
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Legitimately concerned about your risk of developing cancer or diabetes? You can opt for a doctor-recommended screen based on factors like family history or ethnic background. While the tests can cost anywhere from $300 to $3,500, they’re generally covered by insurance. But check with your insurer first: Some require a letter from your doctor, a detailed family history or a visit to a genetic counselor (often covered by insurers) who’s trained to interpret the results.
There are many factors to consider before getting tested: emotional repercussions, cost and even insurance discrimination. According to the federal Genetic Information Nondiscrimination Act (GINA) passed in 2008, employers and health insurers cannot use information from genetic tests against you. But federal law doesn’t provide the same protection for long-term care, life and disability coverage.
Now that we’ve got the basics out of the way, here’s a look at three common genetic tests that doctors can offer patients—and their accompanying pros and cons.