4 Things to Remember When You Get Scary Genetic Test Results
The phone call with the geneticist was scheduled for four o’clock. I wasn’t worried, as I had a long-standing gut feeling I didn’t have the scary gremlin gene carried by so many of my family members. But after five years of knowing it was a possibility, I can’t say I wasn’t a little nervous as the hours ticked by.
I answered on the first ring. The geneticist was warm and personable, and instructed me to log in to the company’s website to look at my results as we discussed them. The page loaded and a message appeared: “A mutation was discovered in the BRCA2 gene…”
Even though I knew my odds were the toss of a coin — my mom having the BRCA2 gene meant I had a 50% chance of having it, too — I was stunned. My other relatives who had been tested already comprised exactly 50% of our extended family.
In a moment, with a glance at a computer screen, I became the tipping point.
Genetic testing for cancer-causing mutations is rapidly gaining popularity in the U.S. As of 2016, 6 percent of adults had undergone genetic testing of one kind or another. The test I took (or rather “spat” — genetic testing can be done on a saliva sample), was via an online company called Color Genomics, which screens for 30 total mutations. Every day more consumers are discovering their odds for numerous conditions, most of them cancers.
In inheriting the BRCA2 gene, I’m the lucky winner of a 74 percent likelihood of developing breast cancer in my lifetime, and a 12 percent chance of ovarian cancer.
Like so many other carriers of this and other genetic mutations, I have some important medical decisions in my future.
Will I have elective surgery to remove my breasts and ovaries?
Will I try a preventative medication regimen?
Or will I do nothing at all?
Since my conversation with the geneticist, I have yet to take any medical action, but I’ve reflected quite a bit on the process I went through and what these results do (and don’t) actually mean for my future. More importantly, I’ve discovered what they mean for my present.
Here are four important takeaways if you, too, have received scary genetic test results:
Genetic test results don’t change anything today.
If you have a genetic mutation today, you had it yesterday and all the other days of your life. Finding out about your results doesn’t activate disease — so it doesn’t need to activate your paranoia. Staying present today can help tame anxiety associated with this unfortunate health news.
You got genetic testing to be empowered about your decisions.
Many people elect not to find out about their genetic risks, but if you did, it was probably because you wanted to be proactive. The knowledge you received exists to help you make wise choices moving forward, not to make you wring your hands in despair.
Genes imply risk, not certainty.
So many other factors besides genetics influence the development of disease. Being intentional with healthy lifestyle choices can mitigate doom-and-gloom odds. Let your genetic test results motivate you to eat better, exercise more, get enough rest, and maintain other healthy practices.
Support is available.
If you’ve tested positive for an inherited gene, odds are that someone else in your family has it, too. If others have been tested, open the lines of communication. Ask them about their experiences and plans. Or, if you’d rather not talk to family, look into finding a support group in your area.
I was amazed to discover that groups for people with the BRCA gene (and other cancer-causing genes) exist all over the country. And don’t forget to talk honestly with your doctor about all of your concerns.
Genetic tests are not a death sentence. They’re a tool. Treating them as such can help us abide in the here and now and move forward with purpose.
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