We are the first generation to be exposed to DNA testing for disease, and simultaneously the last generation to be afforded the luxury of not knowing what lies ahead. I predict that the debate of “Know or Not to Know” will end within a generation. The incorporation of genetic profiling in our medical history will become standard practice, as ubiquitous to medicine as a blood test. And this is a good thing – something we should welcome rather than fear.
So many annual deaths due to medication counter-indications and allergic reactions can be avoided. People with high blood pressure and other chronic conditions will no longer have to go through the stress and financial cost of sampling half a dozen prescriptions and trying out different pill cocktails before they find the right one for them – their own body’s genetic sensitivity to some drugs versus others will determine the right SSRI, the perfect hormone or blood pressure pill.
Prescriptions will no longer be not decided by a physician who has their own biases and pharmaceutical preferences, but by what your own body will respond to. This isn’t something to fear, a dystopian, clinical Gattaca scenario where our future potentials are determined in utero – but has the potential to eliminate diseases with gene therapy from infancy or even during gestation.
Maybe I’m biased, because few of us can claim to be entirely impartial when it comes to something so intimate as your body’s intricate signature and potential disease patterns. Some might think all the information will end up in a government database where “they” will keep track of everything and everyone. But guess what? That’s already happening, and so you may as well benefit from these modern-day advances in genetic screening and disease prevention.
I’m biased because I was one of the lucky ones to order a 23andme DNA kit before the FDA stepped and attempted to shut down the lab, or at least prevent them from informing people about their own medical predispositions. What 23andme offers now is still invaluable information, at least when it comes to familial and ancestral histories, but a watered-down medical report that differs to a certain degree from those kits processed before 2014.
In the winter of 2012 I ordered my kit mainly because I wanted to confirm my father’s genetic and ancestral history. For most of my life, I knew nothing about his background. I had only recently learned that he was Jewish, but because he had been born out of wedlock and my grandmother was rejected by my grandfather’s family, that side of my family tree was completely unknown to me – inclusive of their medical history. And since my father died when I was 13, I couldn’t ask him any of the questions I needed to know. Searching for those answers within my blood became a desperate, last-ditch resort to find out the truth.
I bought a kit for myself and for my mother. By isolating at least one living parent’s DNA from mine, 23andme can perform an analysis of phasing against a parent and child, and identify which DNA was my mother’s and which – through exclusion – had to come from my father.
When the results came in, they confirmed my Jewish ancestry and exposed my roots as having extended all over Europe – as far as Russia, Ukraine, Poland, Hungary, Romania, Germany, and basically mirrored the migration of Jews across Europe in the last 500 years. But beside finally learning about my family history, I now discovered a surprising amount of information about my own medical predispositions.
To Know or Not to Know – That is the Question.
Each of us carries a few damaged genes, a twist in a chain, a mutation passed on from an ancestor we never knew but whose blood flows in our veins. Usually bad genes are recessive, meaning people typically don’t find out they are carriers until they manifest in their children. But once genetic testing becomes widespread, and this is only a matter of time, we will all learn our own secret weaknesses.
There are two schools of thought when it comes to this question: the “Knowledge is Power – I have to know” camp and the “If it’s going to happen anyway, I’d rather not spend my life worrying about death” folks.
Neither position is right or wrong, since it’s up to you to decide what you want to discover about your body and its genetic potential. If you’re a worrier and planner, like me, knowing might relieve you of the stress of not knowing and constantly stressing about what might never actually happen.
But if you wish to live in the present and not concern yourself with something that may never happen, that is also a fair decision – especially since just having a genetic mutation does not absolutely guarantee you’ll develop the disease. Toxins in the environment, diet, nurture and lifestyle play a huge part in the onset of so many diseases.
The CONS of finding out your medical history are obvious:
– “There’s nothing I can do about it,” many people have said. “There is no drug or diet that keeps XYZ from progressing. Nor is there any way of knowing whether that progression would end relatively early, in my 40s, or relatively late, in my 80s, when I might already have died of something else.”
– Stress and depression. For example, some women who get abnormal breast cancer test results can trigger anxiety, depression or anger. Even though the results doesn’t mean that a woman will definitely get breast cancer, many women with an abnormal gene assume they will.
– People who learn they have passed on an abnormal gene to their children may feel guilty and worried. (Yet such knowledge may also prepare them for helping their children cope with their genetic information.)
– Some people fear that they could face discrimination in getting insurance coverage or employment. This fear is no longer an issue since, to prevent any such discrimination, the Genetic Information Non-discrimination Act (GINA) was signed into law in 2008 to protect Americans against discrimination based on their genetic information.
The PROS are equally compelling:
– Knowledge is power; being proactive in disease prevention.
– It allows you to begin making dietary and lifestyle changes early in life. If for instance you carry the diabetes variant, you can start exercising, cutting out sugars and monitoring your health better. If you carry the Alzheimer’s variant, you can start mental exercises, doing crossword puzzles, and playing basic computer games that are designed to sharpen your brain’s neural pathways.
– It eliminates unnecessary testing – precious time can be wasted in trying to diagnose people who might suffer from symptoms that could be applicable to several diseases. Alternately, you might constantly go for X-rays and tests thinking you might have cancer because of a family history, when in reality you are not a carrier of that genetic mutation.
– It allows you to take part in early medication programs – just this week I read an article discussing new, potentially life-changing Alzheimer’s prevention drugs that can be taken from your 30s and 40s and will delay or potentially prevent the disease from ever manifesting.
23andme breaks down your genotyped results into categories that include Inherited Conditions, Traits, Health Risks and Drug Response.
When I received the email from 23andme stating that my results were ready, I held my breath as I opened the Health Overview tab. In the Drug Response category, I learned that I was sensitive to medicines like Warfarin, and that if (God forbid) I would ever catch malaria, I would likely not respond well to treatment (mental note: don’t ever catch malaria!) I also learned that both myself and my mother had lower odds of responding to the most commonly-prescribed diabetes medicine – a very serious factor given that she had diabetes and it always seemed out of control.
In the Traits category, some of the things I learned were that I had brown hair (correct) and a 10% of having inherited blonde hair (from my mother). I was a fast caffeine metabolizer (which explains why I need more than one cup of coffee a day or I’ll be entirely unproductive) and likely lactose intolerant (yup). I also have a sensitivity to bitter taste and am likely to hate cilantro/coriander. So absolutely true!
I also learned that my eyes were likely to be brown and my hair most likely wavy/curly. Of course I know all these things just by looking in the mirror, but it’s so much fun to see the results get computed from a small vial of saliva and the Illumina HumanOmniExpress-24 format chip.
Although 23andme doesn’t carry out a comprehensive test for all diseases or the entire human genome (that would be cost-prohibitive), I found out that I didn’t carry the gene associated with Parkinson’s or MS – actually, I had significantly lower odds of developing those diseases. I also found out that I didn’t have the BRCA 1 and 2 cancer mutations that are linked with the type of cancers that made Angelina Jolie choose to have a double mastectomy and later on, have her ovaries removed.
But there was one issue that gave me anxiety above all else: my maternal grandmother had died of Alzheimer’s dementia, and my mother had been going downhill and would become diagnosed with Alzheimer’s later that same year, in 2013.
For the last decade I lived with the fear and uncertainty that I would also, someday, develop Alzheimer’s disease. Seeing its ravages on my mother, I swore that I would end my life early, or at least make provisions while I was still of sound mind for when the disease might strike in me. Being a pessimist, I was convinced that I carried the genetic variant most commonly associated with Alzheimer’s, APOE-4.
And yet there was no question in my mind that I had to know. Either way, since a part of my subconscious already thought I was doomed, if there was a possibility that I was NOT a carrier I could be free of that fear – bearing in mind, of course, that there are other variants that also play into the development of dementia. But APOE-4 was (and still is) the biggest predictor in those with a family history of the disease.
And then the moment came for me to click on the Alzheimer’s link. A rather ominous box appeared, asking if I was really sure that I wanted to find out, because some may find the results upsetting. I clicked the yes button and then I saw my fate: I did NOT have the APOE-4 variant. Not only that, but I carried a different gene mutation that actually protected me by reducing my risk for dementia to below the population average.
Then I clicked on my mother’s results and there it was – in front of my eyes, what I’d known all along – she WAS a carrier of APOE-4. This is what’s likely to have contributed to her early onset dementia. And only by the grace of God or the universe, or whatever there is out there beyond this world, she had not passed it onto me.
Chances are, most of you who are reading this know someone who has Alzheimer’s. I’ve had friends and acquaintances whose parents and grandparents are continually suffering from this terrible disease. But not many people my age (unless they work in the medical field) have seen the utter devastation of end-stage Alzheimer’s.
My mother’s dying process took almost a year. In that time, I began to grieve her loss – but none of my close friends understood why I was in mourning. They didn’t understand that dementia is a daily, gradual death by a thousand cuts. With each day, a nuance of the individual fades away. People didn’t understand when I said that she was gone – because technically she was still alive.
But week after week, the human being faded to the point that all that became was a shell – a person with the same DNA, but a body vacant of its spirit. She was only 70 years old, but early onset Alzheimer’s has taken whatever had remained of her. She died a few months after she’d turned 71, on December 2, 2015.
I remember a year earlier, sitting in her apartment and saying sadly, “Someday you will forget me. The same way you forgot all your relatives and your street address and how to use public transport. Someday you’ll forget me too.”
She’d looked at me with a great big smile and shook her head. “Oh no. I’ll never forget you. You are my child – I’ll never forget you. Not you.”
And in the end, she kept that promise. A year later she was in hospital and had forgotten how to go to the toilet, how to eat, even how to chew and swallow. She cried, clawed at and fought with all the nurses, and with me, when we tried to feed her. She thought we were trying to choke her – because she didn’t know what to do with the food in her mouth. It dribbled down her hospital gown. She choked and sputtered, and I kept trying to teach her how to chew, how to swallow, to no avail.
But through it all, she still remembered me – only me. And she still remembered her own name. I am fortunate for this, because I was the only person who could communicate with her. She had forgotten all English words and could barely communicate in Romanian – she knew perhaps only 20 Romanian words, at best. But she had kept her promise.
Tears are streaming down my face as I am typing this, because I don’t know how to deal with this – how to cope, how to explain the horror and sadness that descended over me the evening of December 2nd, 2015, when – in a softly-lit private room at Mount Sinai Hospital – I held her hands for hours and told her that I loved her, and that she was going to be free soon, that it was okay to let go. And then her breathing went from laboured and hoarse to soft, and then it stopped. And I just held her in my arms and cried and cried and cried.
Knowledge is power. I would always want to know. And I feel so strongly about the FDA and other pharmaceutical bodies trying to shut down sites like 23andme because they would rather bill insurance companies thousands of dollars per genetic test (in North America, the BRCA test costs an average of $2000-$3000) than give people free access to their own genetic history.
You could call me a DNA activist. This is my body, and my absolute right to know its predispositions. If for whatever reason you don’t want to know, or you don’t trust independent labs like 23andme, that’s perfectly fine – just don’t get tested. But please don’t interpret the FDA’s moves as anything but a money grab for Big Pharma.
Genetic testing will be the future of disease screening, and the pharmaceutical industry would rather charge you (or your health care system) thousands than have you know your predisposition to 200 diseases for the lowly price of $99. Only a year later, the FDA shut down people’s most affordable way of finding out about their bodies.
Our bodies belong to US – NOT to a corporation. The results are OURS – not the FDA’s to monetize. My mother might have died, but I still have her genetic information and her saliva results will remain in the databank for ten years, allowing for further testing as medical screening improves.
Three years ago, my family members and I received ALL those results (potential cancers, Parkinson’s, Alzheimer’s, medication sensitivities and more (over 300 genetic disease potentials, as well as our ethnic heritage) for only $99 per kit. For just one hundred dollars, I discovered my poor mother had the APOE Alzheimer’s gene (like her mother did before her) while I did NOT.
It was like being released from a death sentence.
For this, I will always be grateful.