-William Shakespeare, Julius Caesar
In our scientific age, genomics could be our form of modern prophecy, offering the same hope that seers of millennia past professed to give. Rather than looking into tea leaves or into the constellations, we can now use science to look into our genes. Rather than mysticism, we can divine our fortunes with logic and rational thinking. And rapidly advancing technologies today offer the ability for each of us to sequence our whole genome for less than $1,500.
Yet with this growth in 21st century technology come a number of ethical and personal questions. How much should I personally know about my genetic life and genetic future? Who else should know that information? A doctor? A family member? An employer? Or what about an insurance company? Much of the information I’d want to know, today at least, has little to do with my ultimate cause of death or with playing God and creating super-soldier children in a petri dish.
My pragmatic interest in genomics and my own health data is concentrated in how I might perfect my health over the next few years. I’m considered a high-functioning ME/CFS patient. Though I take 20 pills a day, give myself a shot once a week, and get an IV treatment once a month, I largely can live a normal life. I work 40 hours a week, exercise 3 times a week, and try to be as social as I can. Many ME/CFS patients, housebound or bedridden, and are afforded no such opportunities.
My personal interest in genomics and precision medicine is in finding small shortcuts or tiny intervals to improve my life, and my personal care specifically around my disease, myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). Do I have a specific gene that means that certain behaviors will cause a major relapse of symptoms? Could I find some way to use genomics to avoid all-too-common personal pain? Could I use that information to one day run a marathon or climb Denali?
Those were my thoughts on the last day of the annual Stanford Medicine X conference, when I walked into workshop hosted by researchers Pepita Stringer and Lorena MacNaughtan, from the University of Nottingham in the UK. Their major research interest is in the ethics around genomics research. And the workshop began with us signing forms agreeing to be their little guinea pigs for an hour. Our responses to their surveys were to become part of a larger study they were conducting.
We began by all filling out a survey asking our opinions on what we expected from our genomic life. It asked whether we wanted to know if we might die from a serious genetic disease. It asked whom we wanted to access that personal information, ranging from our friends and family to our doctors and insurance company (almost no one wanted their insurance company to know). It asked whom we wanted to explain the results to us. Then we filled out the same survey, but from the point of view of our past selves. I’m 26 now, so I placed myself in the mind of my 16-year-old self. Each answer I gave was the same, yet even more pronounced. If my genes held a major, life-altering secret, I would have wanted to know even more badly at age 16 than at 26.
After all, if you have a chance to learn a life-changing secret, you’ll of course want to learn as soon as you possibly can. However, it’s hard to see myself living my life radically differently the past decade had I sequenced my genome in 2006. The primary health challenge I’ve faced, ME/CFS, is not primarily linked to genetics. It’s unlikely I could have done anything to prevent it. The major genetic mutations to fear are things like HTT and APP, which are known to cause Huntington’s disease and early-onset Alzheimer’s. Knowing you have these mutations puts you in a straightjacket. You know your days are numbered and you know there’s little, if anything, you can do to change the outcome.
For some, you might call those the TMI (“too much information”) genes, in which we glean a little too much information from the Book of Life. The dilemma comes in your knowledge of your impending demise: does this forge in you an impending dread, in which you lose all agency? Or can it exhilarate you, when you know you must compress into the next few years what you once thought you’d have a lifetime to achieve? But we’re all human. We all know the clock is ticking. Would you live your life differently if you knew you would die in 10 years rather than 50? Either way, death is not a matter of if, it’s only when. To me, because eventual death is a statistical certainty, knowing your whole genome will only serve to bolster, accelerate, and enhance the personality and life vision you already have.
Maybe even more crucially: would you live differently if you knew with certainty a decade hence you’d slip into the fog of Alzheimer’s, your heart still beating but your eyes unable to recognize the caress of your spouse or the laughter of your children?
The neurosurgeon and writer, Paul Kalanithi, delves into this problem in his book When Breath Becomes Air. He receives a terminal lung cancer diagnosis, and enters an unfamiliar territory. He has known all of his life that he would die. That’s what humans do. As a doctor, he has dealt with death in the hospital on a daily or weekly basis. After going through the phases of grief, he begins to come to terms with his shortened lifespan. But how short? He writes:
I knew I was going to die—but I’d known that before. My state of knowledge was the same, but my ability to make lunch plans had been shot to hell. The way forward would seem obvious, if only I knew how many months or years I had left. Tell me three months, I’d spend time with family. Tell me one year, I’d write a book. Give me ten years, I’d get back to treating diseases. The truth that you live one day at a time didn’t help: What was I supposed to do with that day?
We know we will die. But knowing how soon will give us the first major insight into how to live best with the time remaining.
Yet rather than resorting to the newest techniques of modern medicine, a cheaper and perhaps faster way of doing genomics involves looking at your family tree—by knowing which diseases affected your grandparents and great-grandparents, you can gain a quick and dirty insight into your genetic destiny. Our ancestors are living in us, in our blood, our bones, and our genes. As William Faulkner famously wrote, “The past is never dead. It’s not even past.”
And this brings me to an important point.
I came to the workshop expecting to find some way to use genomics to improve my own life or cure my disease. But I learned a different set of facts about myself, a truth likely as inalterable as my genes.
As I filled out the researchers’ survey from the perspective of my 16-year-old self rather than my 26-year-old self, I couldn’t escape thinking that I needed to know what diseases I might one day get because if those diseases were incurable, I would likely want to get involved with cutting edge medical research in those fields so that I might be on the fast track to a cure or at least a better treatment. Or absent that, I would want to get involved with raising awareness, building support groups online, and using my skills as a multimedia journalist and social entrepreneur to help change the advocacy movements in those particular diseases. In short, I would have done exactly what I have already been doing.
Since I was 23, I’ve worked as a filmmaker and social entrepreneur raising awareness and building a public dialogue in the ME/CFS space. Yet if I was pre-destined for Huntington’s disease or early-onset Alzheimer’s, I’d want to start a non-profit in one those fields. I’d want to write a book or produce a documentary or lobby Congress or participate in clinical trials.
My need to know my genetic future was based on my deep need not to just to find ways to alter my own future, but also my passion for leading others and trying to lift up the lives of my fallen brothers and sisters. If I were to go back in time to age 16, have my whole genome sequenced, learn I was to get some other disease, and establish a new vision for my life, it would do nothing except accelerate my path to becoming a more engaged patient, an ePatient.
It would have only accelerated the unfolding path of my own identity.