Uncovering the Secrets of My Chromosomes Through Genetic Testing
I couldn’t fight off the sense that there is a certain absurdity to getting tested for a disease for which there is currently no cure.
To begin, an incomplete list of things I have inherited from my mother: light-red hair that is neither curly nor straight, an intense love of mustard that borders on the obscene, an obsession with cable medical dramas of the early aughts, a propensity for getting food stuck in the exact same spot between my left incisor and canine, an embarrassing affection for the music of Faith Hill, an antique crystal perfume dropper handcrafted in Yugoslavia, a lifelong aversion to the taste of meat, the keen ability to level a person with a single devastating glance, and, maybe, though this I can only assume, certain aberrations in my genetic code that may one day cause the rogue cells in my body to mutate and relentlessly divide.
Genetic testing is often likened to solving a complex mystery, whether that is the hazy puzzle of your family origins or an actual crime. It is the latter that has stirred the most debate in recent years. Direct-to-consumer testing hasn’t quite recovered from the not-so-startling revelations that police were using online genealogy databases to solve cold cases. After the Golden State Killer was identified and apprehended in 2018 using GEDMatch, sales on similar websites dropped precipitously. Though companies quickly changed their user agreements and worked to scrub up their image, the knowledge that your sensitive DNA information could be shared with third parties without your consent was enough to turn people away in droves. Because the vast majority of such users were of European origin, it prompted a mildly amusing phenomenon: tens of thousands of white people, suddenly terrified that the police were coming for them.
Their fear wasn’t totally unfounded. In 2013, the Supreme Court ruled that the seizure of a criminal suspect’s DNA did not violate their Fourth Amendment rights. In his dissent, the conservative justice Antonin Scalia warned that the nation risked becoming a “genetic panopticon,” and both the Electronic Privacy Information Center and the National Association of Criminal Defense Lawyers warned of the ruling’s dire consequences for individual liberty.
The study of human genetics has always carried within it the opportunity for horrendous state abuse and incursions into privacy and human rights. The stench of eugenics still hangs heavy over the Western world. Any talk about the revolutionary possibilities of genetics should also be tempered by sober reminders about its shameful underbelly: forced sterilizations, Lebensborn, The Bell Curve. Carrie Buck, the woman at the heart of the 1927 landmark Supreme Court case permitting forced sterilizations, died at her nursing home in Waynesboro, Virginia, the day before the Human Genome Project officially launched in 1983. For all its awe-inspiring promises and achievements, the post-genomic world risks devolving further into a Gattaca-style dystopia in which only those with the finest genetic markers (for health, for intelligence, for beauty, for whiteness) are allowed to thrive and everyone else is relegated to second-class citizenship, or eliminated, before they are even born.
Despite both this disturbing history and more present causes for concern, my decision to undergo genetic testing was met with nothing but affirmation. Good for you, people said. I was doing the smart and responsible thing for my health. And yet, in the week leading up to my first appointment with Genome Medical, a coarse pit of dread lodged itself in my gut, making it difficult to eat. A black cloud of depression I hadn’t noticed in years followed me wherever I went. What secrets lay buried deep within the long, filamentous strands of my chromosomes? I wondered. What calamitous combinations of A’s, C’s, G’s, and T’s were quietly conspiring against me?
On a Tuesday afternoon, I met virtually with a board-certified genetic counselor who confirmed that I was indeed a viable candidate for genetic testing (though my doctor had recommended it, I was powerless without Genome Medical’s approval). I opted for the Common Hereditary Cancers Panel, which tests forty-seven genes linked with cancer, including the well-known BRCA1 and BRCA2 mutations. The counselor assured me that whatever my results, I’d be protected. Though I tend to take all corporate promises with a hefty grain of salt, Genome Medical states that they will not share private genetic information with any third parties. The 2008 Genetic Information Nondiscrimination Act further bars employers and insurance providers from discriminating against individuals on the basis of their genetic information. As of now, you won’t be turned down from a job or charged a higher insurance premium if your DNA suggests your future is anything less than optimal.
When our call ended, the counselor told me my sample kit would be arriving in a matter of days before waving goodbye, her hand blurring to nothing across the pixelated screen. From the moment I logged off Zoom, I couldn’t fight off the sense that there is a certain absurdity to getting tested for a disease for which there is currently no cure. What would such information give me other than a blunt reminder that my current life was nothing but a comparatively pleasant precursor to much pain and loss? The Genome Medical website says that the knowledge you gain from genetic testing gives you power, but I felt the exact opposite: utterly vulnerable and helpless, susceptible to ruthless forces completely out of my control.
The sample kit arrived in the mail three days later. It resembled your basic saliva sample kit. I briefly marveled at the sheer efficiency of the process—Amazon Prime for the post-genomic era!—before ignoring the kit completely. It languished in my towering mail pile for a week before I finally summoned the courage to open the package and spit. I dropped the saliva-filled tube into a prepaid box and sent my sensitive genetic information off to Genome Medical’s partner lab in San Francisco.
We can thank geneticist Mary-Claire King for much of our current knowledge about the inheritance of breast and ovarian cancers in families. In the early 1970s, King took note of the ways breast and ovarian cancers surged through multiple generations, and she began searching for the unique genetic marker that she suspected typically accompanied the disease. Her ideas were met with an almost-immediate backlash from the male-dominated scientific community. At the time, there was still widespread debate about what exactly caused cancer—Stress? Diet? Pollution? The pill?—and many scientists were doubtful that such a complex disease could have a genetic cause rather than a viral one.
What calamitous combinations of A’s, C’s, G’s, and T’s were quietly conspiring against me?
In 1988, after years of painstaking research, King was able to identify a single gene on chromosome 17 that was linked with breast and ovarian cancers. In 1991, she gave that gene a name: BRCA1. Both BRCA1 and the later-discovered BRCA2 encode a protein that plays a pivotal role in repairing damaged DNA. In genes with a mutation, the BRCA1 protein isn’t recruited to repair a breakage, allowing more and more mutations to proliferate until the growth-regulating and metabolic controls on the cell go haywire, eventually leading to cancer.
King’s discoveries paved the way for an unprecedented human experiment. For the first time in history, individuals could be prediagnosed with one of the most dreaded and destructive diseases known to mankind, allowing them to know with a reasonable amount of certainty whether or not they might one day suffer from a malady that had likely ravaged, and perhaps even killed, one or more of their family members before them. That being said, BRCA1 and BRCA2 mutations result in what King calls “incomplete penetrance,” meaning that even if the gene has indeed mutated, the mutations do not always cause cancer. It is a very strong likelihood rather than a guarantee. Prediagnosis, then, is a darkly quixotic endeavor, a somber quest toward a doom that is perhaps more imagined than real.
After I mailed my saliva sample to Invitae, I did not once allow myself to consider the possibility that I might test negative for the forty-seven genetic mutations in my panel. Better to always assume the worst, my logic typically goes, so that when the worst inevitably arrives, I can meet it with flinty knowing.
This is partly my personality and partly the result of my upbringing, which was shaped by the insidious demands of my mother’s battle with cancer. For twelve years, the bulk of my childhood and adolescence, I watched the way the disease and its relentless treatment consumed her life, arriving first as an unimaginable shock and then gradually becoming a fact of existence, “chemo” penciled in her day planner alongside “dry cleaners” and “grocery store.” I witnessed her incredible strength and then the gradual sapping of that strength, as her body and mind slowly withered, as her hopes for a full recovery were dashed again and again. I struggle to fathom the devastation of learning that months of debilitating treatment were unsuccessful, or of being told that, after years of remission, the cancer had once again returned. It is this crushed hope that I felt the need to gird myself against most of all.
And so I spent most of July irritable and distracted, mourning the life cancer had stolen from my mother and might steal from me. If I dwelled on the personal privilege that allowed me to undergo genetic testing, I did so only briefly and then returned quickly to my impenetrable gloom. I was full of righteous rage, fuming about the patriarchal medical establishment and the pseudo-optimistic scourge of pink-ribbon culture. I ranted about the history of the radical mastectomy and quoted Audre Lorde, who said of her own decision not to undergo reconstructive surgery, “I refuse to be reduced in my own eyes or in the eyes of others from warrior to mere victim simply because it might render me a fraction more acceptable or less dangerous to the still complacent who believe if you cover up a problem it ceases to exist.”
I was, in a word, annoying. But underneath this dramatic and occasionally performative self-pity, there was also a genuine, unshakable sadness, not just for myself but for my mother and for her mother before her and for all the people in the world trapped in their fragile and flawed bodies, beholden to a system that—despite its momentous advances—is still so helpless in the face of human suffering.
I stayed in this beleaguered mental state for weeks, until I opened my email one Thursday morning and saw the subject line burning at the top of my inbox:
Your test results are now available on our online portal!
After work that evening, I tidied up the house, lit a candle, and poured myself a glass of wine. I felt the need to set a tone. There was something so strange about preparing to absorb such significant medical information on my laptop, in my living room, next to the household bong. No clinical office or white-coated doctor for me. Instead, my brother and boyfriend joined me on the couch, almost as tense as I was. The purple Roku screen glared from the TV. I logged on to the patient portal, opened the “Diagnostic Testing Results” document, and took a deep breath.
At the top of the page, a blue box appeared with my result: Uncertain.
Beneath it, in bold, the words “Variant of Uncertain Significance Identified.”
Silently, I read on. The Variant of Uncertain Significance was found on my NF1 gene, which is loosely associated with a rare and nonfatal disorder resulting in abnormal skin pigmentation and noncancerous tumors just beneath the epidermis. I scrolled down to the Variant of Uncertain Significance Results Guide, which explained, “No significant genetic changes (pathogenic variations or mutations) were found on your genetic test.”
It took me a moment to fully process the information. An “Uncertain” result indicates a change not yet understood by science and therefore considered inconclusive. It is not the same thing as a “Positive” result. In fact, an “Uncertain” result means I tested “Negative” for forty-six of the forty-seven major variants associated with genetic disorders. An “Uncertain” result, if not positive with a capital P, is still undeniably good.
My relief was instantaneous and immense. I felt lighter, freer, as if the world had expanded exponentially. My future was no longer scarred by the sharp and searing outline of invented certainty. It blurred again, leaving room for possibility. Though I knew that I should interpret the results carefully, for now, I drank more wine, opened the windows to let in the summer breeze, and put on the Rolling Stones’ Aftermath. The sun was out. People were walking their dogs and riding their bikes down the street. I could hear laughter echoing from the nearby park. For that evening in late July, the world felt generous and kind.
My giddy relief proved relatively short-lived. Good news, like bad news, eventually becomes just another fact of existence. You celebrate, you recalibrate, and then you go on with your life mostly the same way as you did before.
When I met with my counselor the following week, she urged caution. The results were great, she said, but they were hardly a Get Out of Jail Free card. While a negative result reduces my risk of developing hereditary cancer syndrome, it does not eliminate my cancer risk entirely. After all, only 5 to 10 percent of cancers are thought to be strongly related to an inherited gene mutation. The rest is a complex collaboration between genes, environment, behavior, and chance. At minimum, she stressed, I am at population risk for developing cancer in my lifetime.
The counselor then presented me with the results of something called my Tyrer-Cuzick risk-assessment model, which is used to calculate a person’s likelihood of carrying the BRCA1 or BRCA2 mutations and developing cancer before old age. When it comes to cancer, it turns out I am, to use the words of Lizzo, exactly 28.7 percent that bitch. Not a number that inspires a sense of ruin, but certainly not one that inspires unbridled confidence either. Further compounding this ambivalence was the fact that I was only tested for forty-seven of the most common genetic mutations rather than the additional thirty-seven not covered by my insurance plan. What about those?
Genetic testing doesn’t deal in certainties. It deals in likelihoods, in probablys, in glorified premonitions. I suspect my heart will still race every time I undergo my annual mammogram or sense the occasional ache in my breast, the question forever at the tip of my tongue: If not now, when? In the weeks following my final meeting with Genome Medical, I found myself thinking again and again of Ethan Hawke’s character in Gattaca, who says, “There is no gene for fate.”
At my most recent annual checkup, my doctor applauded me for finally undergoing genetic testing. She smiled and updated my chart with the results, content that her duty of care, at least on that front, was finally done. I smiled back and thanked her for forcing the issue, even when it took years.
I climbed into my car after the appointment and pulled down the sun visor to check my reflection. I tucked my frizzing red hair behind my ears and inspected my left incisor for the telltale evidence of my lunch. As I pulled out of the parking garage moments later, I turned up the volume on Faith Hill’s “Breathe,” not caring who heard it blasting through my rolled-down windows. These are the small, concrete inheritances I choose to hold close moving forward. Everything else fades on the horizon, an uncertain future I’ll meet when it arrives.
Marlena Williams is a writer from Portland, Oregon. Her work has appeared in the Yale Review, Electric Literature, Literary Hub, and others. She has an MFA in Fiction from the Vermont College of Fine Arts. Her essay collection Night Mother: A Personal and Cultural History of the Exorcist will be published by the Ohio State University Press in 2023.