When a Genetic Test Result is Positive
Updated: Apr 30, 2020
On my birthday I received a text from one of my relatives. But it wasn’t to wish me a happy birthday. It was along the lines of, “I’ve had medical genetic testing and the results came back positive for a gene that predisposes me to cancer. There’s a 50% chance that you have this gene as well. The genetic counselor recommends you get tested for it.”
I suddenly became hyper aware of my mortality and worried about my relative. All of the good birthday vibes I had going instantly vanished. It was a doozy. At the same time, the news wasn’t a total surprise. I’d been working in cancer research for about a year. Reading the notes of genetic counselors and hearing them speak at hospital conferences led me to suspect that cancer ran in my family. Several physicians recommended I get genetic testing, but I resisted. I knew that if my results were positive, I wouldn’t be able to get life insurance, long term care insurance, or disability insurance. According to the GINA genetic discrimination act of 2008, the law prohibits health insurance companies from denying coverage based on genetic results, but it does allow other types of discrimination. GINA doesn’t apply to employers with less than 15 employees and there are other loopholes. In this day and age the law is subject to change based on the interests of large companies (health insurers, for instance).
What do you do when you know too much? Medically speaking, if I tested positive for a gene mutation, I’d need more frequent cancer screenings done and possibly prophylactic surgery on cancer prone body parts down the road. I might also need to take cancer preventing drugs that are known to come with a whole host of side effects. But I like my body parts and don’t want to expose myself to radiation (that may also slightly increase the risk of cancer) or take nasty drugs. Even if I did test positive, I wouldn’t do any of that, despite knowing that it goes against medical advice. But it’s my body, my choice. Others make this choice too. It’s worth considering that not everyone wants to know if they have a mutation. Some people might prefer to live out their lives normally without their genetic predispositions hanging over their heads. And maybe they are happier as a result. Or perhaps it’s a matter of lack of access to healthcare, an all too common scenario. Results also aren’t always clear cut. They can show a variant of uncertain significance, which means there isn’t enough scientific data to determine if the mutation is harmless or deleterious. Knowing, but not really knowing can be stressful.
It’s highly possible that one day every patient with cancer will get some form of genetic testing. This has the potential to improve the way cancer is treated and advance medicine in exciting ways, but caution is necessary. Genetic testing has the potential to negatively impact people psychologically and financially, becoming more of a burden than a benefit.
Although individual choices should be respected, genetic testing by itself is not a bad thing. It can encourage a person to make healthier, prevention focused lifestyle choices, which is fantastic. For me, knowing I have a gene mutation won’t prompt any of those changes. I’m already extremely healthy, in great shape, and workout regularly. I make giant bowls of salad every week and have been known to scarf down raw kale on occasion. It’s not that I like kale, kale is pretty disgusting, but it’s healthy so I eat it. My relatives’ result wasn’t a prompt to take better care of myself. It was a wakeup call to start truly living.
I posted the test result printout on my fridge with a magnetic sculpture of a Victorian tombstone that reads “memento mori,” Latin for “remember death.” Used throughout history by Stoics, Victorians, Buddhists, and others, the philosophy to remember death urges us to stay humble and live fully in light of the fact that someday we will die. It might seem kind of morbid to Westerners who aren’t exposed to death on a regular basis, but memento mori doesn’t encourage us to dwell on death in a depressing or negative manner. Its underlying principles are rather positive, encouraging productivity and human connection, stressing that we don’t have time for laziness or pettiness.
The memento mori magnet has actually been on my fridge for years. Before going into research, I spent over a decade working in funeral homes, hospitals, and morgues. This helped shape my personal philosophy that we should make the most out of our short lives. Not in a “live every day like it’s your last” kind of way (which would likely involve a lot of partying), more along the lines of intentionally being kind to fellow dying humans and helping others - the type of things that make a positive difference in the world. I try to live accordingly, however, being human, I frequently forget the meaning of the magnet. Now that it’s holding up genetic results, the sight is sobering yet simultaneously motivating.
The presence of the results have caused me to take action. I’ve been waking up even earlier than usual to write before work every day, finding more ways to be productive, and talking to scary-smart people on a regular basis. Recently I was locked in a stupid debate with myself about whether to ask for advice from another writer or to not bother them. Perhaps you’re familiar with this debate. Like many people, I have a hard time asking for help, especially when it’s needed the most. Lost in thought, I opened the fridge. Out of the corner of my eye, I saw the test results and knew immediately what I had to do; ask for help. Tomorrow I might not have the chance. The writer could die. I could get cancer. These are facts. Whether they inspire positive or negative action is up to you.
While the results had a positive impact on my life, getting genetic testing is a personal choice that’s not for everyone. Results may vary. Should you find yourself with positive results or a dreaded variant of uncertain significance, let that motivate you to live well. Remember death so that you can truly live.