by Lizzie Stark
Finally, the Supreme Court decision only knocked down a few of Myriad’s many patents on the genes, leaving many additional claims around methods and uses. Shortly after the Supreme Court’s decision in the summer of 2013, Myriad brought suit against two companies, Ambry Genetics and Gene By Gene, that declared they would begin offering BRCA testing. Myriad sought an injunction to prevent the companies from opening up shop on the grounds that this would infringe on several of Myriad’s patents on methods of looking at the BRCA genes, particularly on its methods of identifying BRCA mutations. Its opponents say these methods are known and obvious techniques. By early 2014 half a dozen companies had been attached to the suit, though Gene By Gene and Myriad settled out of court. In March 2014, a judge shot down the preliminary injunction, but the case could still go to trial or get settled out of court, depending on how the participants proceed. Park tells me that in her opinion Myriad’s suit is “a strategy and business decision,” aimed at squeezing out “a last few months of monopoly. They make a huge profit on testing.” Some of the companies also filed their own countersuits against Myriad.
Now, at the time of writing, there is more than one way to find out if one has a BRCA mutation—several companies have opened up shop, and patients have multiple options. According to Joy Larsen Haidle, presidentelect of the National Society of Genetic Counselors, the decision has changed the practice of genetic counseling. There are many genes that can influence cancer risk. “We needed to test for BRCA1/2; first, and once that was negative we could look at other, less common breast cancer genes,” she says. Now they can do multiple gene panels from the start. The decision “has changed things a lot, and we’re starting to identify inherited risk factors in families we would not have identified previously,” she says. Still, the legal wrangling hasn’t yet reached its conclusion, and depending on how the case shakes out, BRCA patients could still end up back at square one.
5 | Positive
I learned my mother’s genetic results on an ordinary spring day while leaving my local subway station on the way home from work. As I walked through the supermarket parking lot, cell phone to my ear, we whipped through the pleasantries—instead of her usual questions about my day and recent cooking activities, she cut to the chase. “I’m positive,” she said.
There wasn’t much to say after that, so we hung up. On the other side of the parking lot, I stood on the corner, stunned for a moment. I didn’t know how to react. It wasn’t a surprise, exactly, that a woman who’d had estrogen-negative breast cancer at thirty shared her mother’s BRCA1 genetic mutation. Yet a negative test on her part would have spared me the drama of continuing further down this path. My risk of carrying a BRCA1 mutation was now 50 percent. I had a 50 percent chance of having what was then believed to be a 40 to 87 percent chance of developing breast cancer during the course of my life. Did that mean my known risk was now 20 to 43 percent? Could you multiply probabilities like that? Why hadn’t I taken statistics in college?
The number representing my risk worried me because I wasn’t living my life perfectly. I drank beer in the evenings with friends after work or class. Occasionally, I’d bum a cigarette, relishing the feeling of breaking the rules. Because of Boston’s awesome mass transit system, I walked a lot, but I didn’t go to the gym often. What would I do if I had the gene? Would I give up my hedonistic pleasures? Would it even matter enough to counteract my risk?
At home I delivered the news to my boyfriend, George, and to Chip, our close friend and one of our four roommates. I don’t recall crying, but I do remember wanting something, anything, to dampen the swell of panic that rose in my throat. I felt one step closer to the grim family legacy.
Over the next few months I scheduled a flurry of doctor’s appointments, indistinct, but pervasive. Armed with my mother’s test results, I revisited the genetic counselor’s office in the ominous oncology department. The same calm woman sat across from me, speaking in the same calm, hushed, your-puppy-just-died tones. I didn’t have to take the test at all, she told me. And if I did want to take it, that didn’t have to be now. Out of an abundance of caution, though, they’d put me on the screening protocol. “We’re going to treat you like you have the gene until you prove to us that you don’t,” she said. I felt reassured. They would err on the side of caution. I liked caution. That meant MRIs alternated with mammograms every six months, plus extra pelvic exams—a ritual test for every season to ward off the evil eye of cancer.
The yearly medical gauntlet sounds easier than it was. For starters, there were so many appointments to schedule; I spent a lot of time shuttling here and there to have different sorts of beams shot into my breasts. Emotionally, it was difficult too. A trip to get a mammogram is nothing like a trip to the dentist. When the women in your family get cancer, you drag baggage into those waiting rooms with you. The ordeal of actually being scanned is second only to the anxiety of waiting for the results to come back to you at a later date, no matter how well you know that statistically, at your age, even with your family history, you’re pretty unlikely to come down with something lethal.
But maybe, just maybe, all these scans, beams, pokes, and proddings were unnecessary. Maybe I had lucked out and avoided my family’s BRCA mutation. After all if one parent—mother or father—has a BRCA mutation, there’s only a 50 percent chance that their kid does too. That meant I had a 50 percent chance of being free from the family curse. Part of me wanted to take the test and get the inevitable over with, and part of me wanted to wait for the right moment. If I tested negative, I wouldn’t have to worry so much, but if I tested positive … well, I wasn’t sure exactly what I would do then, but it seemed like it’d be good to know. At the same time, I had a high level of paranoia—once this knowledge is out there, it’s out there and open to misuse. What would positive results mean for my health and life insurance or for my employability? I’d heard that some women had paid for their tests out of pocket and used pseudonyms to avoid letting their insurance companies know. At my very first trip to the genetic counselor’s office, I had hesitated before signing in, worried that the simple act of writing my name could somehow lock me into an eternity marked as a genetic mutant.
My worries were not unique. Although few cases of genetic discrimination had been filed at the turn of the twenty-first century, the public fear of the misuse of genetic information exposed a gap between the pace of scientific advancement and the law, brought on by the international Human Genome Project. The project, begun in 1990 and completed in 2003, aimed to sequence and identify all of the genes in human DNA.
Scientists and legislators approached genetic advancement with unbridled optimism. To put it in 1990s terms, the future was, like, totally now, dude. In a 1997 statement advocating for a federal law to protect genetic privacy, the Department of Health and Human Services wrote of the promise of unlocking the genome in understanding, treating, and preventing disease: “At one time, such medical clairvoyance seemed like science fiction. But not anymore.” President Clinton shared that optimism. During a speech on genetic privacy a few years later, he said, “We can now only barely imagine” the wonders of treatment that sequencing the human genome would produce, adding, “It will transform medical care more profoundly than anything since the discovery of antibiotics and the polio vaccine, I believe, far more profoundly than that.” The head of the National Human Genome Research Institute went even further, declaring in a 2000 speech that before the end of the decade, it was quite possible that “each of us may be able to learn our individual susceptibilities to common disorders, allowing the design of a program of effective individualized preventive medicine focused on lifestyle changes, diet, and medical surveillance to keep us healthy,” and hoped that it would usher in an era of healthcare focused on “maintaining wellness instead of relying on expensive and often imperfect treatments for advanced diseases.” Public figures made genetic research sound like a panacea, belying the complications that would arise around surveillance and the psychologi
cal inevitability of knowing your disease risk. What if “maintaining wellness” meant carving out body parts?
And yet, the nervousness around genetic privacy and its potential misuse tempered the optimism of the moment—if the province of science fiction had become reality, perhaps we needed to prevent a science-fiction dystopia. One thing’s for sure: the public was really worried. As early as 1993, an NIH report on the implications of human genome research fretted that if people thought genetic information might be used to deny them health coverage, then they would forgo tests that might otherwise help prevent disease, encourage early treatment plans, or help them plan for the future. A report five years later from the US Department of Labor confirmed this suspicion—that fear of discrimination might drive people away from using the new technology. The report cited a recent poll showing that 85 percent of the general public was very or somewhat concerned about insurance companies and employers having access to genetic information; a telephone survey discussed in the report found that 63 percent of people wouldn’t take genetic tests for disease if their bosses or health insurance companies could learn the results. The Department of Labor report also referenced a multiyear study of Pennsylvania women at high risk for breast cancer—almost a third of the women invited to participate refused because they feared discrimination.
As with so many things related to BRCA, the fear seemed worse than the actuality—the public’s worries about genetic discrimination vastly exceeded the incidence, but they weren’t entirely unfounded. In 1998, some employees of Lawrence Berkeley Laboratory won a lawsuit against their employer for testing their blood and urine samples for sickle cell trait (a genetic test), syphilis, and pregnancy (non-genetic tests) without their knowledge or consent. The California appellate court called the performance of such medical tests without consent “the most basic violation possible” and sided with plaintiffs on grounds of the Fourth Amendment, which protects citizens against unreasonable search and seizure. The US Equal Employment Opportunity Commission (EEOC) brought a similar suit against the Burlington Northern Santa Fe Railway Company in 2001, alleging that, without asking, the company tested employees who filed for worker’s comp due to carpal tunnel syndrome for a deletion on chromosome 17 that makes people more susceptible to wrist injuries. The lawsuit settled, with the railway agreeing to the EEOC’s terms.
Legislators acted because the public feared for its genetic privacy, and this disproportional fear diminished the utility of the new knowledge—people who could benefit from testing turned it down—and impeded the progress of medicine, which depends on willing research participants. Finally, legislators feared the collision between genetic information and racial discrimination; they remembered the sickle cell anemia debacle of the 1970s. In 1971, President Nixon dedicated $10 million to programs geared toward the disease, a blood disorder caused by a recessive genetic trait carried largely by people of African descent. A year later, he signed the National Sickle Cell Anemia Control Act, which dedicated a further $15 million to screening and counseling programs, education, and research. Money to treat and research sickle cell anemia—what’s wrong with that? But in the wake of the funding increase, some states began requiring African American children to undergo mandatory genetic screening for the trait before entering school, a discriminatory practice that targeted individuals based on race. Legislators recognized that genetic discrimination had the ability to overlap and reinforce racial discrimination—it raised the ugly specter of eugenics, and certainly no one wanted that.
After the discovery of the BRCA mutations, researchers uncovered a high rate of certain BRCA1 and 2 mutations in people with Ashkenazi Jewish heritage, leading to similar fears. As journalist Jeff Wheelwright writes in his book about the genes, The Wandering Gene and the Indian Princess, after these discoveries, “some Jewish leaders advised people not to participate in genetic studies any longer. This is what we get for helping? they asked, linking concerns about Jewish genetic defects to Nazi racial classifications and the Holocaust…. Still, with very few exceptions, the genetic abuses that critics warned about haven’t materialized and the dehumanizing scenarios remain very far in the future.” The potential for abuse is understandably frightening, even if it has not been realized.
Federal laws against genetic discrimination were a long time coming, with members of Congress introducing bills as early as 1995. In 2000, President Clinton signed an executive order prohibiting genetic discrimination in the hiring of federal workers, and eight years later, President Bush signed the Genetic Information Nondiscrimination Act (GINA) into law. GINA extended the protections of Clinton’s executive order to all citizens, preventing employers from collecting information about employees or applicants and preventing health insurance companies from using genetic information to charge higher premiums. Although by this time most US states had passed laws about genetic discrimination, the laws had varying scopes; GINA established a minimum level of protection. The bill passed the Senate 95-0 and the House 414-1, with Ron Paul the lone dissenter.
The new law became effective in 2009 and essentially made it illegal for employers or insurers to collect genetic information and family history unless they make clear that such collection is voluntary and will have no effect on an individual’s eligibility for employment and for group or individual health insurance, and no effect on their current status. Still, GINA does not cover long-term care insurance, disability insurance, or life insurance.
Since the law became active in 2009, the complaints of genetic discrimination to the EEOC have increased by a modest number each year, with 201 charges filed in 2010 and 333 filed in 2013. Since the law is young, it’s unclear whether this represents an actual increase in genetic discrimination or whether it’s simply a product of people gradually becoming aware of the new law and using it. The EEOC mediates disputes between employees and employers but, with rare exception, does not file lawsuits. Over the course of four years, it heard a total of 1,059 charges of workplace discrimination involving GINA, not a lot considering that we’re a nation of 317 million people.
In the ensuing months after my mother received her results, I thought carefully about whether I wanted to know what lurked in my DNA. The discrimination issue gave me pause, because if I could keep my results private, I’d definitely want to know. That a family mutation explained the curse that had dogged my relatives for years put a shape to our suffering. It wasn’t just some sadistic god, bent on inducing maximum terror in my relatives; we simply had a piece of erroneous DNA. And I had a one-in-two chance of avoiding the pain my family suffered. Oh yes, I wanted to know. At the same time, I knew receiving my results would hit me hard. Of course, I hoped to be negative, that all these mammograms, MRIs, and pelvic exams had been unnecessary—but I also thought it wise to prepare for a positive result, which I knew would devastate me. It would be worse than the limbo where I already lived. So I asked myself: Can I afford an emotional meltdown at this moment in my life? George and I had just gotten engaged. In a few months, I’d finish my MFA in fiction writing and would move from Boston to New York to start an intense journalism master’s program at Columbia, which by all accounts would involve sixty-hour workweeks and countless all-nighters for the next academic year. That felt like a lot of major life events in a short time span. I wasn’t sure I could endure them if I had a positive test result. And it felt like too much to ask of someone, to confront this stuff at twenty-five.
So for the next two years, I lived in this level of limbo. Mostly, I stayed busy. I learned to walk up to strangers on the street and talk to them. For class, I wrote short reported pieces about health care, firemen, welfare, and food stamps in one of the poorest neighborhoods in the Bronx. I learned to shoot video and code HTML and worked hundred-hour weeks, often sleeping in the multimedia lab the week before deadline. I researched pickles and adult make-believe for my longer projects. After graduation, I lost the internship I’d landed at a local newspaper because the industry was collapsing and they no long
er had the budget for me. I scrambled to find a new job and scored an early morning shift at the news site the Daily Beast. Meanwhile, I reported for my first book, landed a literary agent, and planned my wedding. Periodically I visited websites for the club I desperately wanted to avoid—BRCA mutation carriers. What I read there scared me. Women talked about their breasts and ovaries like they were weapons of destruction, “ticking time bombs” that required surgical disarmament, or assassins that deserved a murderous preemptive strike. I couldn’t relate to that feeling at all. I loved my breasts, or at least, I liked them. They were part of me. I found the sentiment “My breasts are trying to kill me” off-putting, threatening, an indication that these women didn’t understand my state of mind. I wanted nothing to do with them; I had no desire to join their macabre club. So of course I found a reason to criticize their words, their fear, their responses, their way of emotionally distancing themselves from the body parts that needed to go. I was nowhere near ready for a mastectomy.
After GINA passed in 2008—the year I finished my graduate education—it felt like one barrier, one excuse for not testing, had vanished. The bill became law in May, though the provisions wouldn’t take effect until 2009. I stopped imagining potential fake names for myself and calculating how much it might cost to pay out of pocket and keep my insurance company in the dark. With genetic discrimination off my worry list, I found other reasons to delay testing. George and I set our wedding date for early 2009, and since he’d have to take qualifying exams for his PhD soon after, we’d decided to delay our honeymoon until May. I wanted to grab a few last months of unmarred happiness, to enjoy the wedding and the budget trip to Italy we’d finagled without emotional complication. So I waited.
At the same time, my nervousness grew. I was dancing up to the age that women in my family began to get cancer. Though time had muddled Trudy’s story, some accounts suggested she’d started developing breast cancer around twenty-seven or twenty-eight. I was now twenty-seven. In the rush of graduation and job hunting and research, I hadn’t been great about getting my mammograms or massaging my breasts for lumps. I didn’t want to think about it, didn’t want to interrogate my body for fear of what I might find. Still, I thought of cancer often.
