When I sent a saliva sample for DNA analysis, I worried what I might find out. Could I be in danger of developing melanoma—the disease that killed my dad—or Alzheimer's, which affected my grandmother? Do I really want to know?
Instead, the $99 home test revealed that I'm actually at lower than average risk for both problems but also have several surprising potential health threats lurking in my genes, including one that could be potentially life-threatening (but preventable).
I also discovered some quirky facts about my genetics and even found “DNA relatives”—including a second cousin who was previously unknown to me—in the company’s database.
Thanks to such breakthroughs as decoding the human genome in 2003 and rapid gene sequencing technologies, there are now more than 900 genetic tests available to check for genes that predict risk for certain diseases and conditions.
For those who dare to open the book on their DNA, such companies as DNA Traits, GenePlanet, DNA DTC and 23andme (the one I used), offer do-it-yourself tests to screen for future health risks. Some companies also provide information about your ancestry, highlight a wide range of personal traits and characteristics, and predict how you’ll respond to certain medications.
The rapidly growing home-genetic-test industry hopes to reach a million customers by the end of this year. But does it make sense for patients to screen themselves for future health threats without a healthcare provider’s guidance or prescription?
Advocates say that this type of screening provides actionable insights that patients can use to protect themselves from future risks, instead of waiting until a disease strikes.
Detractors question the tests' accuracy. The Federal Trade Commission, which regulates makers of genetic tests, cautions that some home tests lack scientific validity and others provide results that are only meaningful in the context of a full medical evaluation.
Critics also point out that many parts of the genetic puzzle remain unsolved, such as how the genes interact with lifestyle and environment. As a result, the National Human Genome Research Institute cautions that today's tests may provide a misleading picture of future health threats, either by falsely reassuring people with undiscovered risk factors that there's nothing to worry about or needlessly alarming those with undiscovered protective factors.
To investigate, I went online to order a 23andme test kit and discussed the results with Amy Doneen, ARNP, medical director the Heart Attack & Stroke Prevention Center in Spokane, Washington. Doneen orders genetic tests in her practice to screen for cardiovascular risks but doesn’t use ones from companies listed above that market directly to consumers.
You swab your cheek for cells with your DNA or collect a saliva sample and then send it to the company for analysis. Your sample is then checked for hundreds of genetic variants linked to higher or lower risk for certain diseases. You receive a detailed report you can read on the company’s website, which contains information about both the risks that have been identified and what you can do to protect yourself.
However, I immediately ran into two unexpected snags. First, although I ordered the DNA collection kit for express delivery, it actually took nearly 2 weeks to arrive. And because it’s illegal in my state—New York—for patients to collect or mail saliva samples, I had to drive to Connecticut, where I sat in my car, spitting into a test tube outside a post office, in a truly bizarre form of medical tourism.
A month later, the results were finally in. With a mix of fear and curiosity, I scanned my health risk report. It was scary to learn that I have nearly triple the normal risk for age-related macular degeneration (AMC), the leading cause of vision loss in older adults.
However, I still have excellent odds of not developing this problem, because the usual risk is only 7 percent. Although mine is about 20 percent, that still means there’s an 80 percent chance that I’ll avoid AMC, which has several treatments that can delay its progression, should I ultimately fall into the unlucky 20 percent.
Similarly, I have nearly 15 times the usual risk for celiac disease, in which a reaction to gluten (found in foods like wheat) causes bowel symptoms and damage. But even though that sounds like I’m headed for trouble unless I go gluten free immediately, my risk is less than 4 percent, compared to the normal risk of 0.2 percent. So far, I have no signs of this condition.
Some of my risks that were identified—including psoriasis, chronic kidney disease, asthma, migraines, and bipolar disorder—have affected members of my family. I was also correctly identified as having excellent reading skills and being of average height.
However, other results totally missed the mark; 23andme’s predictions that I have brown eyes, curly hair, type A negative or B positive blood, and no problem digesting dairy products were incorrect. In reality, I have pin-straight tresses, green eyes, type A positive blood, and am somewhat lactose intolerant. I discussed some of these seemingly obvious disparities with Joanna Mountain, senior director of research of 23andme. Regarding eye color, Mountain stated that the analysis showed a 56 percent probability of brown eyes, 37 percent probability of green, and 6 percent probability of blue, and so the results were based on the highest probability. She also said that the results showed "a strong probability" of curlier than average hair, but not a certainty.
The quirkiest findings included my earwax type (wet), that I am better at sprinting than long distance running, and that because I’m unable to taste certain bitter compounds in food, I probably love Brussels sprouts (true).
Because Doneen and I collaborated on an upcoming book titled Beat the Heart Attack Gene (with coauthor Dr. Bradley Bale), I was particularly alarmed to learn that I’m a carrier of the genetic variant known as 9P21, which has been dubbed the “heart attack gene” by researchers (the 23andme results did not use this specific term). This genetic profile is linked to having up to four times higher risk for heart disease (compared to non-carriers) and up to double the danger of a heart attack at a relatively young age. There are several scientifically recognized tests for this variant, including one that Doneen uses in her practice that's available to healthcare providers through Berkeley HeartLab.
The test results also showed increased risk for both aortic aneurysm and atrial fibrillation, a dangerous type of irregular heartbeat that boosts the threat of stroke. Still, as Doneen points out, “DNA isn’t destiny and cardiovascular events are not inevitable, even for people with high risk genes.”
However, genetic tests may show that you're at increased risk for a condition for which there's no prevention strategy or cure, such as Alzheimer's disease or Parkinson’s. As the National Human Research Genome Institute notes, “Such knowledge may help you plan your life, but it may also make you and your loved ones anxious or depressed.”
Now that I’m aware of my potential heart health risks, I can work harder at prevention, by improving my diet, exercising more, and getting a cardiovascular evaluation. The good news is that I haven’t had a heart attack or stroke—and by taking the right precautions, both of these calamities are preventable.
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