Here Is a Human Being (4 page)

By way of comparison, the white paper discussed—and took a couple of shots at—the consent used in a large-scale global genotyping project of a few years ago, the HapMap, which amounted to a survey of genotypes from four different populations and is widely acknowledged as a very useful resource to researchers who troll through the whole genome in order to find disease genes.
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The HapMap consent included this passage, which was singled out by George and company:

George’s original form, on the other hand, said the following:

It read like a list of potential plotlines for the Lifetime Movie Network (which, in 2007, ran a recurring feature titled “'Can You Handle The Truth’ Thursday”). The first two scenarios struck me as the most worrisome. Genetic discrimination was an obvious possibility for which we think we have the beginnings of a legal solution. Nonpaternity has been going on since Adam and Eve; we just haven’t had a way to confirm it until recently. If you give the same single-gene genetic test to parents (or even one parent) and their/his/her children, and the results don’t jibe, there are three possibilities: 1) a new mutation in the child, 2) laboratory error, or 3) nonpaternity. Of the three, assuming one is dealing with a reputable lab, the last is by far the most likely: 10 percent of the time, on average, the nominal father is not the biological father.
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When I was a genetic-counselor-in-training, we were told never to disclose nonpaternity to anyone but the mother—it was none of our business, it was not why families came to us, and really, who wants to deal with the headaches and heartaches living inside other people’s closets. But just as the teenage boy found his biological father in a few short steps, personal genomics has already made it that much simpler for children to find out whether the titular dad sitting at the dinner table shares half—or none—of their genomes. In conducting research for this book, I heard stories of personal genomics companies awkwardly having to negotiate the discovery of nonpaternity.

Public outing of people’s genomes is something Boston University’s genetic legal scholars Winnie Roche and George Annas have thought about for decades. In the 1980s they agitated for something that goes well beyond the Genetic Information Nondiscrimination Act, which collected dust in Congress for twelve years before becoming law in 2008. They would like to see a statute explicitly guaranteeing genetic privacy.
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But if there was no sense of urgency to pass GINA, which as I’ve noted is designed to prevent discrimination only in employment and in health (but not life) insurance, then what is the case for a more far-reaching law?

“Let me just give you a stupid example,” said Annas, a short man with glasses and a thick beard who’s known for his acid pen. “Let’s say you have this technology to do ten genomes a week [cheaply]. That’d become a major part of physicals for political candidates. It would get nasty! Each candidate would want to pull out the genomes of the other candidates and disclose every possible predisposition they have.
‘He’s
got a pedophilia gene!’
‘He’s
gonna get Alzheimer’s!’ ‘Oh yeah, well,
he’s
probably got Alzheimer’s already!’ [But] you could certainly draft a criminal statute that says you can’t do that.”
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In the wake of the bitter 2008 presidential election, Annas and Boston University neurologist Robert Green wrote a cautionary piece in the
New England Journal of Medicine
citing the possibility of misleading results, false positives, and “genetic McCarthyism” that could result if the electorate started demanding genome scans from presidential candidates.
⁶⁹

While George Church included these sorts of caveats in his consent form, it’s unlikely he’s ever lost a moment’s sleep over them. His own behavior has been nothing if not consistent with an unflagging belief in openness. His website offers the best examples of this. To the uninitiated much of it is fairly dry biomedical science stuff: his lab, his funded projects, his publications, his scientific advisory roles.
⁷⁰
But its many tentacles include pages devoted to him that are not all that different from what a particularly guileless and nerdy college student might post on Facebook or MySpace. His main personal page, for example, features rotating pictures of himself at various ages, describes his upbringing, lists his hobbies (waterskiing [like father like son], aerobatics, turtle breeding, etc.) and charts his development as a scientific thinker from childhood on (“First independent chemistry experiments, Spring 1972. Organic synthesis of cyclohexanone as well as qualitative analysis & IR spectroscopy of various organic compounds”). But it also lets his demographic information all hang out: it includes links to a map of his Brookline neighborhood with an arrow pointing to his house, his signature, his diet and health records, his mother’s maiden name, and, until a few years ago, his Social Security number.
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Even his wife Ting, an otherwise unabashed supporter of her husband, recalled a moment of shock at the latter. “You have your Social Security number open to the
public?”
she said to him. George told her that it didn’t matter—if someone wanted it badly enough, they could get it anyway. “Well,” she said, “you don’t have to make it
that
easy.” Down it came.
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George’s high-profile and sometimes slightly off-the-reservation Web presence, his articles touting the PGP in the media, his rosy predictions about personal genomics on a large scale made to anyone who will listen, and especially his public embrace of the open-source ethos, all served as fodder for those who would characterize him, the way someone did to me with what sounded a lot like suspicion and contempt, as “that guy who wants to put everyone’s DNA up on the Internet.”

But George has always denied being a dogmatist. The motivation behind his recruitment of a seventeen-strong ethics contingent, he told me, was not to enlist them as a rubber stamp. Rather, he said he did it because he really didn’t know exactly what the right thing to do was with respect to subjects’ data. (An aside: with all due respect to my social science colleagues, assembling seventeen bioethicists hardly seems like a recipe for consensus.) “We want to stay nimble,” George told me not long after we met for the first time. “We are listening and learning.”
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I asked him how the PGP would handle the discovery of bad news lurking in a subject’s genome. What if someone turned out to be at high risk for some catastrophic condition like Huntington’s or Lou Gehrig’s disease? George said that that person would have the option of
not
knowing.
^*

“Then you’re confident you can keep the data private,” I said.

“We’re not actually confident,” he said. “But we are going to try as hard or harder than previous human genetics studies. We’re pretty good at computational security and we will try, but we’re not promising that. It could become public immediately.”
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At a genomics meeting I met Margret Hoehe, a raven-haired and outspoken M.D.-Ph.D. who is a group leader at the Max Planck Institute for Molecular Genetics in Berlin. She recalled getting roundly mocked by colleagues for having the audacity to suggest we begin to sequence humans for medical purposes. This was in 1990. Now in her fifties, she seemed to be no more aligned with the German genetics community—one, admittedly, still wrestling with the colossal eugenic shadow cast by World War II—than she was in her youth. In 2009, the German government passed one of the stricter laws regulating genetic testing in history: all tests must be ordered by a physician, no anonymous paternity testing, no paternity tests during pregnancy except in cases of rape, etc.
⁷⁵
Wholegenome sequencing of healthy Germans seemed an unlikely prospect. “I’m always twenty years too early,” Hoehe said, laughing. She still had big plans for experiments she wanted to carry out, but was not optimistic that she could get sufficient buy-in to land the funding. She described herself as having the soul of an American but having the misfortune of being born German. Without question, she said, the most extraordinary period in her scientific career was her two years in the Church lab in the early 1990s. She stirred her drink and smiled at the memory.

“He’s the only one who ever believed in my crazy ideas.”
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“W
hy in God’s name would you want to do that?” a geneticist friend asked when I told him I wanted to be a PGP subject and make my genome public. The better question, it seemed to me, was why
wouldn’t
I?

At the risk of sounding Pollyannaish, I thought the PGP might actually help make a difference. True believers like Church, Halamka, and some of the other PGP subjects often said that personal genomics represented an opportunity to change health care. Physicians, they said, spend months and hundreds of thousands of dollars trying to find the right statin, the right blood thinner, or the right antidepressant for their patients, to say nothing of the right dose. Trial and error was still the MO. Genomics, they said, had the power to streamline that process: if we knew which genomic variants people carried and the way those influenced drug metabolism, we could prescribe medicines in a more rational way—this is the cornerstone of the burgeoning field of pharmacogenomics.
¹
If we knew the contents of folks’ genomes, we could avoid giving them the wrong drugs and in doing so save some lives (one study estimated that a hundred thousand people per year suffer fatal adverse drug reactions in hospitals
²
). Further afield, we could potentially use genomic medicine to avoid food allergies, curtail dangerous exercise regimens, and tell people how much sleep is too much … or not enough. Prior to the massive Obama healthcare overhaul, everyone I spoke to agreed that fundamental changes to health care were essential—in the United States we were spending more than 15 percent of gross domestic product on it and clearly getting ripped off. But should the necessary changes be more about quotidian details like reimbursement and incentives rather than newfangled technologies like supercheap DNA sequencing? Could the PGP help figure out what sorts of useful things one might do with 20,000+ genes appended to people’s health records?

I had more selfish hopes, too. I imagined the PGP would be an opportunity to walk in my former research subjects’ shoes, albeit with a twist. Scientists who do human subjects research spend so much time writing grants, crafting consent forms, collecting samples, experimenting on and analyzing those samples, and then looking for more, that most of us don’t have a clue as to how it feels on the other end of the phlebotomist’s needle, the graduate student’s personal questions, or the stethoscope. A few years ago I completed a yearlong exercise study, which was fun, got me in shape, and even helped me to drop a few pounds. It came with a few hundred bucks and ten months’ membership at a fitness club—a pretty good deal for doing something that I should have been doing anyway. As he biopsied my thigh muscle or pumped me full of glucose, the principal investigator, an amiable cardiologist, patiently answered all of my questions. But at the end of the day, he was not my doctor, he was a
researcher
—his team needed my data infinitely more than it needed what I needed, which was for my cholesterol numbers to improve. I was, finally, just another data point.

The uglier side of this equation can be found in bioethicist Carl Elliott’s brilliant and terrifying 2008
New Yorker
article, “Guinea Pigging.”
³
In it Elliott described a somewhat freaky underclass of people who eke out a living as research subjects in clinical drug trials. There were the subjects who had their recreational time cut short at the investigators’ whims, those in a Philadelphia-based study who were forbidden to leave their medical research facility on 9/11 (“No one’s going home! Everything’s fine!”), and most tragically, those in recklessly supervised psychiatric studies who took their own lives.

In part as a hedge against these sorts of outcomes, the initial PGP cohort of ten would be populated by people with biomedical backgrounds who actually read and understood the consent form and presumably knew what questions to ask of the principal investigator, who was himself a subject. The yawning chasm between scientist and subject would not be so wide. Or so we hoped.

And of course the PGP would also afford me the chance to have a look at my own genome. After all those years of graduate school and all those thousands of DNA samples I’d aliquotted into tiny polypropylene tubes, I might understand something about myself at the molecular level. Did I carry one or more Hirschsprung’s mutations as my nephew must? Were there some drugs I metabolized better than others? Was I at high risk for the same heart attacks that felled my paternal grandfather at age fifty and maternal grandmother at age sixty? Was I in the throes of a standard-issue midlife crisis or might there be a genetic basis to the anxiety and depression that had made me a regular on a therapist’s couch and at the drive-through pharmacy? Wouldn’t it be cool to know?

Accordingly, I sent my slightly alarmed but always practical wife an improvised email questionnaire. After mocking my formality, Ann responded in earnest (my questions in italics, her answers below them):

My wife likes her privacy. Unlike her husband, she does not seek the spotlight. Indeed, despite the rise of reality TV and Facebook/Twitter exhibitionism, most Americans still treasure what Justice Louis Brandeis called “the right to be left alone.”
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Thus it was Ann’s response to question 4 that seemed to me to get at the core of why the PGP made some people—and the NIH—nervous. The truth of the matter was, outside of a patchwork of state nondiscrimination laws and the Genetic Information Nondiscrimination Act governing health insurance and employment, an individual had limited legal protections over his genome, especially with respect to the physical DNA itself. For most of the last thirty years the judicial system has been fairly consistent: once they leave your body, you do not own your tissue, organs, or bodily fluids or any of the revenue they might generate for a biotech company, a university, or anyone else.
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But why? And how did we get here? The issue has still not been completely settled and it’s one that continues to reverberate throughout the legal system. In 2003 urologist and prostate cancer researcher Bill Catalona moved from Washington University in St. Louis to Northwestern University after WU tried to assert control over the huge repository of patient samples he had collected. Catalona, a short man with white hair and a slightly gravelly voice, has performed thousands of prostate operations, those of St. Louis Cardinals greats Stan Musial and Joe Torre among them. He knows as much about the clinical genetics of the disease as anyone. Shortly after moving to Northwestern he asked ten thousand patients who were part of his studies to write letters to Washington University requesting that their samples be transferred to Northwestern; six thousand eventually complied.
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WU responded by filing suit against Catalona.
⁷

The case rested on two competing interests: Missouri state property law and federal regulations meant to protect research participants. Catalona had prominent bioethicists and angry patients on his side. Eventually, the Office of Human Research Protections weighed in for Catalona, too. But the courts were having none of it. The Federal District Court ruled that under Missouri law, Washington University owned the samples—the patients had irrevocably “gifted” (such an awful transitive verb) them.
⁸
If a patient withdrew from the study, it meant only that he needn’t donate any
more
samples in the future. Catalona’s attorneys argued that the federal regulations covering human subjects, known collectively as the “Common Rule,”
^*
demanded that consent forms never include language that meant subjects had to waive their legal rights. But the Washington University consent forms did indeed include such exculpatory language, characterizing the transfer as a “free and voluntary gift.”
⁹

The appellate court affirmed the district court’s ruling by virtue of what can only be called circular reasoning, saying essentially that federal regulations didn’t apply given that the patients, by signing the consent forms, had agreed to freely donate their samples without strings. The court noted that there was no mention of a right to “physically withdraw or request the return of biological samples,” nor was there any indication that subjects had a right to “direct the transfer of their samples to another entity for research purposes.” And because Catalona himself had routinely destroyed samples without consulting subjects, his legal team’s “right to opt out” argument was rejected.
¹⁰

Predictably, Washington University crowed about the ruling. The dean of the medical school said it was “of great national importance… . This university and others may be unwilling to make those kinds of investments [in biorepositories] if we knew that at any time those collections could be removed.”
¹¹
Patients wanting out and asking that their samples be destroyed were told that their samples would instead be “anonymized” and therefore unidentifiable. Once that happened, they were no longer considered “human subjects” and therefore not protected by the Common Rule.

Genetics expert and law professor Lori Andrews of Chicago-Kent College of Law lamented this development and the ruling itself. “Anonymizing a sample … is not a satisfactory solution,” she told a newspaper in 2007. “Patients should have a right to decide what is done with their tissue. Otherwise it’s bait and switch.”
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Catalona’s final appeal—to the U.S. Supreme Court—was denied.

“I think it’s terrible,” he told me. He noted that anonymizing samples such that they could not be traced back to their donor could have grave clinical consequences. “Somebody may discover a genetic variant that will let us know whether someone in the family is going to get this disease or if his tumor is susceptible to a certain type of drug. And so if a man has prostate cancer and his son has it, it may be very important to compare those tumors to each other.”
¹³

Catalona has continued to do clinical genetic research in Chicago and still performs three hundred radical prostatectomies a year. But while some patients discussed filing a class-action suit against Washington University, I reckoned that the years of litigation had taken a toll on their champion. “What came out of the case,” he said with resignation, “is that the patients could not depend on the court system to follow through on what had been guaranteed to them.”
¹⁴
More than a year later he was still angry. “The courts have granted Washington University OWNERSHIP of the samples, provided by the patients specifically for prostate cancer research in my program and, as such, WU can now do with them whatever it wishes. My sense is that patients’ rights are continuing to erode. Many savvy ones are deciding that the safest strategy is simply not to provide a sample for research.”
¹⁵

And what about the rest of us not even involved in research? What claims did anyone have on their own DNA or other body parts? I asked Stanford Law’s Hank Greely, who has been contemplating genetics’ relationship to the law for decades. A former clerk for Supreme Court Justice Potter Stewart, Greely is a rotund and friendly man with glasses, puffy cheeks, and slits for eyes; when he spoke he reminded me of my in-laws from Ohio (Greely grew up in Columbus), especially the way he pronounced the word
potential
with a long
o.

“[You have rights to] things that
are
in you,” he explained, “not to things that have at one point
been
in you. You spit on a Kleenex and throw it away and, often, you lose. The courts have not yet confronted it, [but] it’s come up occasionally in criminal cases where cops follow a suspect around and find a Coke bottle or a beer bottle and get DNA from it for forensic purposes. The reaction has been to call it ‘abandoned property.’ When you put your trash on the street, the law’s clear: You don’t own it and anybody can come and get it.

“So you don’t have any property-like rights [to your DNA], but you might have a variety of rights to limit or control its use in ways that aren’t thought about as property. But all of those would be relatively novel. And they might come from treating it as health information that shouldn’t be released or disclosed.”
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