Here Is a Human Being (30 page)

gene patents, their holders said, cover
inventions,
not discoveries—just like all valid patents do … or should. And, they argued, the isolation of a gene was a true invention. Furthermore, proponents would say that they have patented the
method
(or methods) of looking for medically important mutations in those genes. Finally, companies with exclusive licenses to particular genes like to say that they need their particular monopolies to expand the market for testing of those genes.
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In their view, exclusive patent licenses are necessary to spur innovation: without the promise of a nice payoff at the end, investors would not sink money into commercial genetic tests and patients would be forced to rely on the vagaries and slow turnaround times of research-based testing.
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In general, Bob Cook-Deegan, postdoc Shubha Chandrasekharan, and I (along with many colleagues at Duke and elsewhere) had found that the last argument did not hold water. Rights to the cystic fibrosis gene, for example, were licensed broadly and the test had always been cheap, reliable, and easily available.
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Indeed, genetic screening itself seemed headed toward the “close to free” model. In 2009 a company called Counsyl had sprung up whose product was a “Universal Carrier Screen” for more than one hundred genetic diseases, $349 out of pocket or free to customers with insurance. The company included PGPers/famous-Harvard-guys Steven Pinker and Henry Louis Gates, Jr., among its advisers.
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The Counsyl tag line: “Thinking about starting a family?”
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Its website described a “campaign” to end preventable genetic disease,
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presumably by prospective parents who were carriers of mutations in the same genes not having kids or by selecting against affected embryos.

Preconception genetic screening has improved people’s lives immeasurably. That said, for Counsyl to call this a “campaign” akin to the campaign to fight AIDS was a bit over-the-top, I reckoned—not everyone thought of hereditary deafness as a disease, for example.
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And just as being a sickle-cell carrier is protective against malaria, being a carrier of—and perhaps even afflicted with—other genetic diseases or “disabilities” probably confers evolutionary advantages in certain cases.
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But Counsyl made no bones about its mission:

For Myriad, neither Counsyl’s launch (although Counsyl didn’t test breast cancer genes) nor the 23andMe move into BRCA1/2 could be construed as good omens. Although Myriad’s profits from BRCA testing had been robust, its image had not. Because it had a monopoly and refused to sublicense its tests, and because it charged more than three thousand dollars, Myriad had been called “probably the most hated diagnostics company.” (Given Myriad’s many years of experience with BRCA testing and its high rate of insurance coverage,
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whether it was the “most hated” was debatable.)

But the company was under assault on two fronts. First, by returning results on BRCA1 and BRCA2, even on just three mutations out of the more than 2,500 known, 23andMe appeared ready to flout Myriad’s licenses, although Linda Avey downplayed the intellectual property aspect. “Because this subset of BRCA markers doesn’t fully replicate the Myriad test (and it’s not positioned to be an alternative for in-depth BRCA testing),” she wrote to me in 2009, “we’re not certain how Myriad will react.”
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But if 23andMe could get away with it, how long before other labs started screening for hereditary breast cancer susceptibility genes?

The year 2009 also brought a full-blown legal challenge: in May the American Civil Liberties Union filed suit against Myriad, claiming that the company’s monopoly on the BRCA genes: 1) made it impossible for women to access other breast cancer genetic tests; 2) prevented them from getting second opinions about their results; and 3) allowed Myriad to charge exorbitant prices.
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Myriad responded by filing a motion to have the lawsuit dismissed, saying that the ACLU lacked the standing to bring the suit and that “a mere policy disagreement” did not warrant a declaratory judgment.
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Judge Robert Sweet said in so many words that the plaintiffs did indeed have the standing to bring the suit and that he would like to hear the case.
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At the time I thought the ACLU suit could be important, but I also thought it might be too little too late: even its critics conceded that Myriad did an excellent job of testing BRCA1 and BRCA2,
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although the company had been criticized for overselling its test to women who didn’t need it.
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I believed this cash cow would dry up of its own accord: most of the relevant BRCA patents were set to expire within the next few years, as were most other gene patents related to single-gene disorders. But Judge Sweet opted not to wait. In March 2010 he handed down a shocking summary judgment that made the court’s view perfectly clear:

In other words, DNA in one’s body does the same thing it does outside one’s body:
it carries information.
Thus, a gene in a test tube or a sequencing machine is not much different from a gene in a cell in a human body. It cannot be considered a true invention and therefore cannot be patented. Obviously, the defendants were not happy about this ruling and vowed to appeal.

But in George’s view, even if the ruling had gone the other way, Myriad’s business model was still doomed. “I think that protecting individual SNPs is legally unsustainable,” said George of the Myriad patents. “It’s
so easy
to get people that data without infringing. We’re just going to sequence whole genomes and give them the raw data. If the companies think that that’s infringing their patents, then we’ll just give people a machine to do it themselves. And if
that’s
infringing, then we’ll just give them the parts to make the machine. It’s reductio ad absurdum. There’s not a lot of sympathy for patenting of DNA sequences. It’s something that’s at the intersection of the open source and human rights movements: ‘This is mine and you can’t have it.’ ”
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On a personal level, knowing that I was “clean” for the Ashkenazi mutations via two independent sources was a relief. There was still a chance that I carried another BRCA mutation. Ann said she could live with that risk if I could; I thought I could. In the two years since I’d been consented, the world had made small but significant steps in the direction of less genetic privacy: dozens of people were in the process of getting sequenced and even some research participants were receiving their own genetic information. The first six whole genomes had all made their data public. By 2010, the wholesale cost for a full sequence at high coverage was less than $10,000, which meant a lot more people would soon be in the pipeline. And judging by the twelve thousand prospects who had already signed up to join the Personal Genome Project,
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the destigmatization process appeared to be well under way.

Of course, in the final analysis none of that really mattered: this was
my
genome to do with what I wanted. I had already made my phenotypic information public: if the world cared, it could read my profile and know that I was prone to anxiety and depression. Was it likely that I carried anything in my genome more stigmatizing than that? Of course, any of tens of thousands of researchers could now test that hypothesis by ordering my cells ($85) or my DNA ($55),
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sequencing me eight ways to Sunday, and publishing any damning allele I might carry. As I’ve said, this was not something I was terribly concerned about, but until now no one had ever had to give it much thought one way or the other.

When I moved to Durham, I had no idea how to find a doctor. I’m still not sure I do other than by asking my white-coated colleagues. To find a general practitioner, I wound up making a list based on somewhat arbitrary criteria: she had to be reasonably close to my house, an internist, and accept my insurance. I preferred female physicians: I don’t know why, perhaps because of some deep-seated mommy issue. Other than a Club Med in Grenada, I didn’t much care where she went to school or did her residency or even if she came highly recommended—I assumed she would be competent, what with Durham being the “City of Medicine” and all. I had never really thought of my doctor as “someone to talk to.” She was someone who made me stick out my tongue, whacked me on the knee, and told me to turn my head and cough, which I did with great awkwardness. I found one who was affiliated with Duke and she was terrific—pleasant and sharp, and with a Ph.D. in biochemistry even. We chatted about drug development as she looked in my ears. But not long after my second visit she moved to Singapore. Argh. I had to start over. I got my insurer’s provider directory and started googling. This process yielded not much more than addresses and phone numbers—it seemed like it led mostly to commercial sites that, for a fee, would tell me my prospective doctor’s “grade” or “score.” Based on what, exactly? Choosing a physician was not like choosing a restaurant. Or maybe it was.

I finally found one through her practice’s website—it was done up in nonthreatening pastels and had pictures of happy-looking women bouncing on medicine balls and little boys flying balsa wood model airplanes. So far so good—it seemed like so few primary care docs had websites … maybe they wanted to perpetuate the black-bag-and-tongue-depressor stereotype. I went to see her and we talked. She was young and Australian; a vegan (they’re everywhere!) who leaned Republican. When I told her what I was doing with my genome, I expected shock, chastisement, probably befuddlement. But she just said, “Wow. That’s really cool.”

“Do you have any advice for me?” I asked. She twirled her stethoscope around her finger and looked thoughtful. “I’d stock up on long-term care and disability insurance,” she said. I laughed nervously, but she was dead serious. She had had enough experience with insurance companies that she didn’t want to make it easier for them to deny me coverage (this was before the passage of the Genetic Information Nondiscrimination Act, for what that was worth).

I appreciated her concern and I saw the logic of her argument: if we knew our own genome sequences and could gauge our own risks, then we could adjust our coverage accordingly. But I wasn’t doing this to game the system. In my mind, buying extra policies would be giving support to the fallacious idea that our genes are deterministic and we should be afraid of them. I couldn’t square it with the ethos of the PGP, to say nothing of my own convictions. And besides, until now insurance companies hadn’t really given a rat’s patootie about genetics. What better way to get them to start caring than by hoarding coverage?
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And for all of my neuroses, I found that I really couldn’t get too worked up about any of the other Churchian nightmare scenarios coming back to bite me. I had a hard time imagining anyone planting my DNA at a crime scene, shunning me because I was descended from an infamous villain, or, say, my employers deciding they didn’t like what they saw on my paternal copy of chromosome 11 and firing me. My genome would be, I presumed, pretty far down any real or hypothetical list of reasons for my termination. As for my kids, even if I didn’t trust my wife implicitly (I do), I don’t need a DNA test to know that my kids are mine: they have my wife’s good looks and common sense, but my nose, my perverse sense of humor, my bad teeth, and at least some of my existential anxiety. That’s not genetic determinism, that’s just life. And given that I had made it to age forty-five, I didn’t believe I would discover anything earth-shattering in my genome about my own health anyway, and if I did, I didn’t think that that knowledge would ruin my life—on the contrary, it might even improve it.

Yes, the PGP was a leap of faith. I remembered Baylor’s Amy McGuire discussing the uncertainty implicit in agreeing to have one’s entire genome sequenced.
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But as the Estonian philosopher Hermann Alexander Keyserling wrote, “Faith, like courage, rests on consent to uncertainty.”
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When my father and I play Scrabble and I put down a word for a lot of points, but in doing so set him up for a Triple Word Score, he often says, “Take a chance, win a bunny.” Sometimes I get away with it; other times he makes me pay with a well-placed Z, X, or Q. The PGP was, in some ways, a microcosm of our lives: we were all consenting to uncertainty and incurring risk. We were all trying to win a bunny. I had come this far and I was still curious. I wanted to see it through, to walk the walk. From here on in, I would redact nothing.

I wrote to the PGP brain trust: “PGP #4 is in.”
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