Here Is a Human Being (5 page)

Amy McGuire, a Baylor College of Medicine legal scholar who facilitated the public release of Jim Watson’s genome, agreed. “Property law was not designed to handle these kinds of issues.”
¹⁷

Greely and I talked about the PGP and he gave it a weak endorsement. “I don’t think your position is irrational,” he said of my decision to have my genome sequenced and made public. “I’m not an anxious person, but I’d be a little concerned about my children. I have a sixteen-year-old and a nineteen-year-old, and in a sense [if I got sequenced] I’d be revealing half of their genomes. Although the fact we don’t know which half helps.”
¹⁸

Throughout the writing of this book the subject of anonymity came up again and again. I thought about it often with respect to my daughters. Who did I think I was, taking liberties with
their
genetic information? At an NIH-sponsored Town Hall meeting in December 2006 to discuss how data for large human genomic studies should be handled, one person decried the George Church approach for that very reason: to make one’s genome public would be to make family members’ genomes public, at least in part.
¹⁹
Had I had sons, they would have inherited my Y chromosome almost unchanged (except for a small bit of the X, the Y lacks a dance partner with which to shuffle its genes). As it was, I would be exposing my brothers’ Y and my father’s Y and my paternal grandfather’s Y chromosomes to the world. (That said, the Y is a runt of a chromosome: it has just seventy-eight functional male-specific genes and very few of them are associated with disease.)
²⁰

But Ann’s question was a fair one: Why
couldn’t
I remain anonymous (other than to satisfy George’s desire for openness and altruism and my need for attention)? A few years ago the
Wall Street Journal
ran a frontpage article on a psychotherapy patient who was denied disability coverage for auto-accident-related injuries when her therapist turned over clinical notes to the insurance company. The therapist’s notes were mixed in with the patient’s general medical records and therefore denied any special protection.
²¹
I suggested to George that this kind of story—"You can’t even trust your shrink to keep your secrets!"—would make “health-information altruism” a tough sell. He seemed to draw the exact opposite conclusion. “It might discourage people who wouldn’t or shouldn’t be involved anyway,” he said, “but it might also convince real altruists that we need to do something fast.”
²²

Despite George’s “put-it-all-on-the-Web” openness, at one point he expressed misgivings to me that both he and Halamka had outed themselves as subjects before recruiting the rest of the first ten PGPers. I didn’t get it—wasn’t this the whole point of the PGP exercise? Shouldn’t all the subjects be screaming their identities from the rooftops? “I just think it’s a team effort and we need to have a little bit of team consideration,” he said. “Even if it’s something we all plan to do eventually, maybe we all want to do it together, maybe we want to have a press release, maybe we want to make sure that the look and feel of the database are up to snuff before we do it. There are timing issues. There are issues about whether we portray it in a positive light but with enough discussion of the negative aspects. I think that requires some nuance that the really gung-ho people will be too impatient to do. I think this is a work in progress, a successive approximation.”
²³

For months I periodically emailed or called George to ask about the status of the PGP recruits: Had they all been picked, had the IRB given them the okay, had they signed the consent form, had they had their blood drawn? The process seemed to be moving at a crawl. I eventually gave up on becoming a subject. George had received hundreds of responses to his call for volunteers. Everyone wanted his or her genome sequenced for free. I imagined that George figured I would write about the project anyway, so why should he even bother to recruit me and risk the possibility that I might write something unflattering? As a science editor I had grown used to dealing with finicky and occasionally prickly scientists fretting over whether writers were capable of getting their work right (the presumption was usually no, they weren’t) and whether my portrayals would reflect well on them. I resigned myself to the idea that my role would be to go on masquerading as a journalist. Like Jon Stewart, only not as funny.

One night a message appeared in my inbox. “The Harvard Medical School Institutional Review Board has just approved you as a participant in the study, so if you are still interested …”
²⁴
Ha! George really takes this opt-out thing seriously, I thought, though I suspected he was smiling as he typed it.

Ann had just turned out the light and was drifting off to sleep. “I’m in,” I announced. “Congratulations, that’s great,” she said. She was quiet for a moment.

“Or maybe it’s not. I guess we’ll find out.”

When I told friends and colleagues I was officially a PGP subject, after the “Why do this?” question usually came the “Why you?” one. Or, as one said, “What makes
you
so special, Genome Boy?” Nothing. Nothing makes me special: that’s the whole idea. (That exchange, however, did prompt me to start a blog called genomeboy.com.)

But in the early days a fair number of scientists and bioethicists perceived personal genomics as special to a fault: in their eyes it was a purely self-indulgent exercise. One bioethicist I know said she thought the sequencing of Watson, Venter, Church, et al. would “help identify the megalomania gene.” A May 2007 article in
Nature
was headlined “Celebrity Genomes Alarm Scientists.” In it, fly geneticist extraordinaire and onetime Venter nemesis Michael Ashburner called sequencing “famous or very rich people … bloody tacky.” The Genetics & Public Policy Center’s Kathy Hudson said that if this is what came out of the Human Genome Project, it would be “sort of a sad statement.” Then–National Human Genome Research Institute director Francis Collins took a veiled (but probably justified) shot at Watson for not consulting his family members before getting sequenced. At the head of the article were smiley pictures of Venter, Watson, and George, the Unholy Trinity of Personal Genomics made to do a perp walk across the pages of science’s most hallowed publication.
²⁵

As a PGP subject I could hardly claim to be objective. But to me this smacked of a double standard. On the one hand, the noble souls at the NIH wanted to protect poor, naïve research subjects and their genomic data; on the other, they seemed to have abiding contempt for the early adopters. If a potential research subject was poor, uneducated, or a minority, then the knee-jerk response was that that person was ripe for exploitation. I get that—the history of genetics is littered with examples of bad behavior toward folks who could not defend themselves, from American eugenics to the Nuremberg laws to Nazi medical experiments to the Tuskegee “studies” of untreated syphilis in African American males that dragged on for forty cruel, inhuman years.
²⁶
But did these outrages necessarily imply the converse to be true? If someone white, educated, and relatively advantaged chose to participate in a cutting-edge experiment, was it fair to presume he or she would reap some enviable benefit or was doing it only for elitist navel-gazing purposes?

I attended the Biology of Genomes meeting at Cold Spring Harbor Laboratory (CSHL) in May 2007. Not so long ago this gathering was called the “Genome Mapping & Sequencing Meeting"; now, in the postgenome era, it was much more about actual biology, that is, how cells work, than about just amassing DNA sequence. The 2007 edition featured lively presentations on Neanderthals, biofuels, and genes that make dogs run faster. There were plenty of famous geneticists around, but the gathering still felt very bottom-up: students and postdocs outnumbered their bosses; they razzed them from the podium and drank with them in the evenings. For me it was nostalgia-inducing. I recalled my days as a real scientist in training, staying up late making posters or PowerPoint slides and then sprinting to catch a train or plane to some exotic locale, making my presentation, and heading to the bar for a long night of revelry interspersed with grad-student talk about genes, postdocs, and life.

When I arrived it was a gorgeous day in early May and everything was already lush in the aftermath of rain and warm temperatures. I saw Chad Nusbaum, sequencing guru from the MIT-Harvard Broad Institute whom I’d met at a few months earlier at the genome technology meeting in Florida, cavorting on the lawn behind the dining hall in shorts, a T-shirt, and bare feet. Chad would often jog the eight miles to work in the Boston snow and ice. Seeing him now I was jealous: in my long-sleeve shirt and sport coat I not only looked every bit the outsider, I was practically panting from the heat as I waded through the lunch line.

The lab—a sprawling campus, actually, that was the unofficial home of the early-twentieth-century eugenics movement
²⁷
—is nestled on a pristine inlet on Long Island Sound. Manhattan is thirty-five miles west but might as well be on the other side of the world. The harbor was dotted with boats and birds; geese squawked overhead. The lucky/well-connected folks got to stay on campus in dorms or the rustic clapboard houses. The rest of us were shuttled to and from the Holiday Inn in a neighboring town.

I was here to try to see Jim Watson, former president of CSHL and, before some unfortunate remarks about race he would make a few months later,
²⁸
president emeritus of the lab. Watson landed here in 1968, the year he published his shockingly impolite memoir
The Double Helix,
²⁹
and fifteen years after he and Francis Crick discovered the double helix itself, for which they won the Nobel Prize in 1962.
³⁰
I wanted to ask Watson about his decision to get his genome sequenced, how he felt about it, why he’d decided not to learn about his status for APOE (the most important common Alzheimer’s susceptibility gene
³¹
) and what if anything his precedent might mean for the PGP.

Someone at CSHL had made inquiries on my behalf. He reported that “Jim’s people” said he was not giving interviews until the end of the month, when there was to be a big event at Baylor University in Houston honoring the completion of his genome. My friend said that maybe I could meet him casually and chat with him but warned me not to push. Watson had long been considered a loose cannon, a trait both he and his handlers recognized (some less recent things he’s said: “The best home for a feminist is another person’s lab,”
³²
organismal biologists are just “stamp collectors,” “anyone who would hire an ecologist is out of his mind,”
³³
“I’ve never read the Bible; I’m not sure I’ve missed much,”
³⁴
etc.). Friends told me that the lab had tried to rein him in over the years but without much success. “You never know what the hell he’s going to say,” admitted a onetime instructor at a CSHL summer course whose students Watson used to address. She had no idea how prescient she was.

As the meeting went on, he was not around much, save for an outdoor book-signing event for the newest edition of the breezy (no, really) textbook
Recombinant DNA.
³⁵
I joined the crowd on the veranda just off the bar/café and grudgingly plunked down my credit card (eighty-three dollars … for a paperback!) in hopes of gaining a little access. I watched him squinting through his glasses and breathing loudly through his nose, his expression inscrutable. He was engrossed in the act of signing his name, which he did ever so slowly and meticulously in small print, occasionally lifting his head to chat with his coauthors. He barely acknowledged the queue of giddy but polite young scientists. I opened my mouth to say something, only to wimp out and shrink away in authentic fake-journalist fashion. I had been reading about this guy in textbooks for most of my adult life, gazing at his picture, listening to outrageous stories about him. Now, after twenty years, here was my chance and I flinched.

I tried to convince myself that I could craft a composite Watson by talking to the other folks involved in Project Jim. Michael Egholm was vice president of research and development for 454 Life Sciences (bought by Roche in 2007), the company that was first to market with its next-generation DNA sequencer. Project Jim was a million-dollar effort
³⁶
(or maybe $2 million, depending upon whom you asked
³⁷
) initiated by 454 together with Baylor sequencing czar Richard Gibbs, presumably as a way for the company to garner publicity for its new machines.
³⁸
I approached Egholm, an affable if cocky Dane with slicked-back hair, a pink tint to his face, and wire-rimmed glasses. He promised that at the Houston event Watson would be given his genome sequence and that at about the same time there would be a paper published (“hopefully in a good journal”) and then, in a symbolic flourish, Watson himself would deposit his sequence into GenBank, the public home of all known freely available DNA sequence information.
^*
The question of what part of his genomic information would be redacted beyond APOE was an open one. “We have a list of bad genes,” Egholm told me. “We’re simply going to walk him through that list and ask him what he wants. The real discussion is, what do his relatives say? The concern is that a year or two from now we’re going to discover that if one has this or that allele, one will drop dead at a certain age. Jim doesn’t really care about that—he likes to rub that in, you know, that even at his advanced age he doesn’t have any maladies. The real concern is about his descendants.” Watson had two grown sons, one of whom was schizophrenic.

In practical terms, Egholm said that for next-generation sequencing, data analysis remained the biggest challenge, especially for an entire human genome sequenced six or seven times over. “Twenty billion bases is still twenty billion bases. There’s no way around it.”
³⁹
(This was in 2007. Six- or seven-fold sequencing coverage [about 20 billion bases] of a human genome would soon be considered laughable. The first sequenced Asian and African genomes, for example, were sequenced at more than 30x coverage, or about 100 billion bases, which became something of an informal standard.)