Here Is a Human Being Read online

  But doesn’t that add up to eugenics? “There is a eugenic by-product,” Stan conceded, “but the immediate impact on families would be to help assure that they won’t have a terrible outcome.”88

  I was reluctant to get into this debate for the umpteenth time. And anyway I had my own problems (I know: spoken like a true personal genomics enthusiast). Just before my conversation with Stan, my phone rang. It was Ann; her voice quavered and I could tell she’d been crying. Her CA-125 was high. Again. CA-125 is a protein that’s detected in blood, elevated levels of which can be associated with ovarian cancer. Emphasis on “can.” CA-125, a gynecological oncologist told me, is a shitty test, subject to both false positives and false negatives. In other words, a woman may have no detectable elevation in her CA-125 and still have deadly ovarian cancer. Or she may have a CA-125 that’s off the charts and therefore be convinced she will die imminently, only to discover that she’s fine and her CA-125 was elevated for some other completely benign reason such as endometriosis or even normal menstruation.89

  So why use CA-125? In short, because it was the best we had. Unlike skin or blood, ovarian tissue is difficult to access. Women with ovarian cancer often complain of nothing more than vague abdominal symptoms. Ovarian biopsies aren’t done because they pose a risk of spreading a cancer. The only way to diagnose the disease definitively in a woman is to open her up, something that obviously cannot be undertaken lightly. The net result is that while ovarian cancer is relatively rare, it’s the deadliest tumor a woman can have. The development of a reliable, noninvasive diagnostic is among the holy grails of gynecological medicine, to say nothing of a potential gold mine to its inventor.

  With some trepidation, I unburdened myself to Stan, a guy I’d known for all of half an hour but most of whose professional life had been spent developing cancer diagnostics. He responded by switching into problemsolving mode. Stan swiveled around in his chair and began scrolling through his email, looking for messages he’d received from a scientist at Yale who was working on a novel blood-based ovarian cancer diagnostic. The test, called OvaSure, was purported to be able to catch 95 percent of cases.90 Ninety-five percent! The rights had been sold to LabCorp and it was due to go on the market soon. In my unhinged mind I had already decided that Ann had ovarian cancer and that she would be among the first women to avail themselves of this new miraculous tool. She too would be an early adopter! Wrong and wrong.

  Ann’s CA-125 levels returned to normal (whatever that means) in subsequent months; it danced around but was never high enough to alarm her gyn-onc. She had a couple of fibroid cysts but nothing remotely malignant. The gyn-onc we saw, a short and friendly man with wire-rimmed glasses, shrugged and repeated what he’d said at Ann’s last appointment: “CA-125's a terrible test and it causes a lot of needless anxiety.” I asked him about OvaSure; he made a face and shook his head. “Those guys still have a long way to go.”

  He was probably right about that. LabCorp brought OvaSure on the market as a “home-brew” test offered by a single lab. Under current regulations, this meant that it did not need FDA approval. The FDA, however, saw things differently. It said that 1) the test was developed at Yale and not at LabCorp and therefore was not home-brew and could not circumvent FDA regulation; and 2) the agency needed to be convinced that the test worked. In the interest of remaining in the FDA’s good graces, LabCorp quickly yanked OvaSure from the market.91

  A few months later I learned that a friend and former teacher, Sheila Schwartz, died of complications of ovarian cancer. Like most women with the disease, she was diagnosed when the cancer was already at an advanced stage, though she fought it for many years. She learned later that she carried a BRCA2 mutation. She was fifty-six.92 Not long after that, my cousin was diagnosed with ovarian cancer. She was forty-two.

  “We stop where the science stops.”

  This is what Participant #9 told me about the nutrigenomics company she cofounded, Sciona. For Rosalynn Gill, this statement had become something of a mantra.93 In 2006, Sciona was one of four companies hauled before Congress following an investigation by the U.S. Government Accountability Office. The GAO suggested these companies misled consumers by selling tests that offered predictions based on diet and lifestyle surveys coupled with genotype information. The chairman of the committee presiding over the congressional hearings, Senator Gordon Smith, Republican of Oregon, derided the companies’ products as “snake oil.” In full indignation mode, he lectured them: “I don’t want consumers preyed upon in such a manner.”94

  Rosalynn called it the most terrifying day of her life. And then she rolled her eyes.95 The GAO, she explained, set up a sting of sorts, in which it submitted fourteen lifestyle questionnaires from fourteen fictional people using only two DNA samples, one from a nine-month-old infant and the other from a forty-eight-year-old man. The GAO’s indictment of the companies’ practices was based in part on the fact that each of the fourteen phony customers received an individualized set of recommendations despite representing only two distinct DNA samples.96 Rosalynn thought this was actually a good thing. “I was relieved!” she said of the different recommendations. “This meant that my software was working as it should and taking into account customers’ lifestyle data.”97

  The Sciona protocol was similar to other direct-to-consumer tests: a customer spit in a tube, sent it off, and in a few weeks got results. The company farmed out its genotyping to Connecticut-based Clinical Data, which returned genotypes on variants in nineteen genes associated with nutrition and health. A customer, for example, might be found to have a particular DNA variant in a gene linked to poor absorption of calcium or vitamin D and therefore possibly at risk for developing osteoporosis. Based on what the person reported about his/her diet, Sciona may have advised an increase in vitamin D, calcium, omega-3 fatty acids, and/or exercise in order to promote “bone health.” Or if someone had a certain variant in her MTHFR gene, she might be advised to eat a diet richer in folic acid and/or take B vitamin supplements in order to reduce her homocysteine levels (elevated homocysteine is a significant risk factor for heart disease).98 Senator Smith referred to this type of activity as “diagnosing disease.”99 Rosalynn objected—there was a difference between risk factors and actual disease. “I said, ‘Wait a minute! I’m not promising to reduce the risk of disease. I’m not diagnosing disease. We’re talking about how these genes can affect the levels of things like homocysteine and cholesterol.’ ”100

  When we spoke at the second PGP gathering, she referred to herself as a “healthy forty-seven-year-old woman” and therefore was not expecting much from her genomic consult. A molecular biologist by training, she was tall, blond, slender, and smiled a lot. She was divorced and lived with her children in Colorado, where Sciona was headquartered. The day before the PGP participants met, she had run a half-marathon. She saw personal genomics as a tool for self-improvement. “Current models are not working for nutrition education. If we can help someone to make the right choices, to eat more healthfully, then I think that that demonstrates the greatest utility of what we’re doing. I’m really interested in making a difference in people’s everyday lives.”101

  She had done both Navigenics and 23andMe. But, she said, because Sciona was the first company to give genetic data to consumers, she was more interested in the way personal genomics companies presented their results than in the actual results themselves. She thought that by ignoring environment, diet, lifestyle, and family history, the risk estimates she got back from Navi and 23andMe were close to meaningless. She sounded like many of the scientists and clinicians I’d spoken to, one of whose main messages was essentially “genes, shmenes—where is the phenotype?” She ignored the 23andMe and Navigenics disease risk numbers. On the other hand, learning her ancestry via 23andMe was fun, she said: her Central European maternal lineage, for example, was a surprise. “I tell my friends I’m descended from Attila the Hun.”102

  Reading over the congressional testimony on the GAO report103
and an investigation conducted by the United Kingdom’s Human Genetics Commission,104 I found it hard to muster much outrage toward Sciona. Maybe that was due in part to Rosalynn’s skillful politicking and infectious charm (“If my weight goes on the Internet, George, I’m out of here!”105) or the even-keeled way she stood up to a bullying senator. The governmental wrath the company had incurred in two countries seemed a little disproportionate to its so-called offenses.

  At the same time, I couldn’t see myself spending $250 on Sciona’s Mycellf Program106 in the hopes of “personalizing my diet.” Just as Rosalynn criticized the personal genomics companies for not collecting trait information, there was no reason to believe that the genetic bases of traits Sciona reported on, such as weight and cardiovascular health, were not a hell of a lot more complicated than what one could glean from typing twenty-odd genes, many of which were poorly understood, with or without lifestyle surveys. If, when talking about nutrigenomics, we were stopping where the science stops, then we were probably not going very far. Not yet, anyway.

  But Sciona wasn’t going to see the future, no matter when it arrived. When the economy tanked in 2008, it could not raise enough capital to stay afloat. By the following summer it had closed its doors; its assets were sold soon thereafter.107 Rosalynn found a position with Ipsogen, a French start-up focused on the molecular diagnostics of cancer.108

  James Sherley was the last of the ten and the only African-American. I mention his race because it is relevant to our story. George wanted to include one or more minorities in the initial round of the PGP for the sake of both genomic and cultural diversity.* I had recently interviewed Rick Kittles, a prominent black geneticist, and suggested to George that he might be a candidate. George corresponded with him, and he showed some interest, but ultimately decided not to do it (see chapter 13). In fact, many African-Americans—even research geneticists—were wary of biomedical research. It’s easy to understand why. The Tuskegee “studies” of untreated syphilis in African American males dragged on for decades.109 In the 1970s and ‘80s, the U.S. Air Force Academy rejected 143 black applicants who were merely carriers of the sickle cell trait.110 And in the consciousness of many people of color, DNA connotes not wonder, but the sinister side of forensics: dragnets, lack of due process, and the unchecked power of government and law enforcement.111

  James Sherley’s view of DNA and the human genome, however, was that of a scientist. When the PGP-10 gathered for the second time, he marveled at the idea that, with our cell lines in a public repository, we had each been “immortalized,”112 just like Henrietta Lacks, the dirt-poor African American woman for whom the HeLa cell line had been named.113

  He could talk for hours about stem cell biology and how our genomes programmed cells to carry out various functions. That said, he was hardly disengaged from matters of race. When George recruited him, Sherley was busy fighting his own public battle against what he perceived to be racial discrimination. Sherley came to MIT in 1998 as a junior faculty member in the new Department of Biological Engineering. In retrospect, he told me, things went wrong at the beginning. He was the first investigator hired into the new department, something he said the BE division head, Douglas Lauffenburger, never acknowledged, instead claiming that he was hired into the Division of Toxicology. Some thought Sherley was just being petty, but for him the symbolism mattered, especially since he would remain the only African American in BE for at least nine years.114

  Sherley said he had less laboratory space—the coin of the realm in university science—than his other junior colleagues. And he learned that he had been hired into a targeted minority slot, something he said that no one at MIT had ever felt the need to mention to him. This mattered because MIT did not allocate dedicated space resources to targeted minority hires; they had to make use of space that was already available. According to Sherley, then–MIT provost Robert Brown declared that he would not give space to either women or African Americans.*115

  In 2004, Lauffenburger informed Sherley that he would not advance his name for tenure. At the time, Sherley said, Lauffenburger also made a cryptic remark: he knew that Sherley’s race was going to be a factor in his tenure decision. Sherley didn’t know what that meant, but the fact that it was said at all was enough for him to demand an investigation. Sherley also believed there were conflicts of interest at work in his case.116 Lauffenburger was married to Linda Griffith, another MIT stem cell biologist who had had sharp disagreements with Sherley on matters of science, although she had been principal investigator on grants that had partly funded Sherley’s research. Nevertheless, a letter written on Sherley’s behalf described their relationship as “openly contentious.”117 For this reason Sherley thought Lauffenburger should recuse himself from all matters relating to the tenure decision; Lauffenburger did not. In fact, he solicited a letter from Griffith to be included in Sherley’s tenure dossier.118

  In 2001, a month before 9/11, President Bush banned all federal funding for embryonic stem cell research.119 In the 2004 presidential election, stem cell funding became a major issue. Michael J. Fox and Christopher Reeve agitated for public support.120 Molecular biologists, too, stormed their state legislatures, which began allocating billions for homegrown embryonic stem cell (ESC) research programs.121 Sherley was not among those lobbying for ESC funding, however. On the contrary: the son of a Baptist minister, James believed that embryonic stem cell research resulted in the destruction of human life. “Like thousands of other multicellular organisms on this planet,” he told Celebrate Life in 2007, “human beings start life as a single-cell embryo, the product of the union of a complete human genome and the programming cytoplasm of a human egg. This union occurs at fertilization… . I challenge the promoters of human embryonic stem cell research to justify why another human embryonic life is less worthy than their own… .” He would work only on adult cells.122

  Given the tenor of the debate and what was at stake in the early 2000s, it seems unlikely that his position on stem cells could have won Sherley many friends in Biological Engineering at MIT. He wouldn’t venture a guess as to how important his stance was in the decision to deny him tenure and in the ensuing kerfuffle; he would say only that he would be naïve to think that it didn’t play a role.123

  In September 2006, more than a year after his tenure decision, Sherley won the prestigious Pioneer Award from NIH for his work on adult stem cells. The $2.5 million award supports “exceptionally creative scientists who take highly innovative approaches.” That year just thirteen were granted.124

  But this development neither bolstered his case for tenure nor otherwise improved his position in the eyes of the university. In subsequent months relations between MIT and Sherley deteriorated. In December 2006, he wrote a letter to the campus newspaper in which he said, “I will either see the provost* resign and my hard-earned tenure granted at MIT, or I will die defiantly right outside his office.”125 He refused to communicate with the provost, who he said mishandled the grievance process.126

  On February 5, after two bowls of Chex cereal, James Sherley began a hunger strike and a vigil outside the offices of MIT’s top administrators. His doctor, who helped him prepare and visited him throughout, said, “I hope you survive this.” He responded: “Well, if I don’t you’ll be the first to know.”127

  The following day, a letter from a group of MIT professors, led by leftist linguist Noam Chomsky, wrote to the campus paper on Sherley’s behalf questioning the integrity of the grievance process. George Church was among the signatories.128

  After twelve days and twenty pounds, Sherley called it off. The provost said there could be no mediation while a hunger strike was going on. With the help of some emissaries, Sherley and MIT released concurrent statements. MIT “deeply regret[ted]” that Sherley’s experiences led to his fast. His protest “focused attention on the effects that race may play” in the career trajectories of minority faculty. MIT said it would “continue to work toward resolution of our differences with Pro
fessor Sherley.” For his part, Sherley said he was breaking his fast “in celebration of the attention that has been brought to bear on issues of equity, diversity and justice at MIT” and elsewhere. He also said that his demands were “still on the table.”129

  It soon became obvious that those demands would not be met. At the end of March his colleagues in Biological Engineering released a statement saying that the tenure process was a “fair and honest” one; it suggested Sherley’s publication record was not up to snuff and noted that MIT could not consider work Sherley had performed prior to coming to MIT.130 After an exploratory process looking for tenure opportunities across campus, the provost made it clear that tenure was off the table in any department at MIT and that Sherley’s appointment would end on June 30.131 A colleague representing Sherley characterized the provost’s proposal for mediation as a “notice of eviction.”132 By then Sherley had long since stopped communicating with the provost. In May the provost released a statement saying that MIT had never agreed to review Sherley’s tenure case again, or to conduct any review of his allegations about the grievance process.133

  June 30 was a Saturday. When Sherley tried to gain access to his lab on the following day, he found that his keys no longer worked. He emailed the president of MIT, worried for the viability of his cell lines and mice.134 The provost told the campus newspaper that Sherley had declined earlier opportunities to avail himself of university assistance. Consequently, MIT had decommissioned Sherley’s lab in accord with “all applicable rules and regulations.”135

  My first encounter with James was at the pseudo-vegan PGP barbecue at George’s house just weeks after James had been locked out of his lab.136 We stood at the bottom of the stairs in George’s artsy and plantsy Brookline bungalow and talked quietly over beer; James still seemed shaken by all that had happened. He paused frequently to push his glasses up his nose. He was not a skinny man; during his hunger strike the Harvard newspaper, among others, had ridiculed his weight (and his cause) and suggested that a hunger strike would be good for his health.137