Here Is a Human Being by Misha Angrist Page B

the midst of running a batch of samples. On the screens were thousands of white dots, like stars on an especially clear night. These were polonies—short stretches of DNA that had been amplified millions of times.
    “I wandered into the lab and saw some interesting things,” McCarthy recalled diplomatically. “I said, ‘I can do a lot of these things better than this stuff you’ve cobbled together.’ It began with a few core components and just kept getting bigger. I said, ‘Would you like some metal to connect all this stuff?’ Finally it got to the level of, ‘How about we just make the whole thing?’ They were like, ‘Yeah! Let’s go!’” 8
    Back in the main ballroom, Baylor’s Amy McGuire was making a presentation on the ethical challenges of personal genomics. We were living in an exciting time, she said, but the excitement was tempered by worry. All of the events of the last year or two—the publication of individual genomes, the X Prize, NIH grants meant to hasten the arrival of the thousand-dollar genome, genome-wide association studies, and yes, the PGP—raised some ethical issues that for the most part had not been in play before the digital and genomic ages. Among the biggies:
Did researchers believe their own informed-consent forms and did subjects understand them?
Should research results be returned to research subjects?
How should investigators share data, and with whom?
    Projects like the PGP raised the larger question: Can participants consent to uncertainty? To paraphrase Donald Rumsfeld, could we accept not knowing what we did not know? Clearly the ten of us thought we could; we also thought that anyone who was comfortable with the unknown should be allowed to assume those risks. NIH, on the other hand, was clearly
not
down with the idea; governments and regulatory agencies liked certainty. McGuire did not take a stand—"All of these approaches have merit,” she said. 9 But unlike the rest of us, she had actually walked the walk: she was the one who had navigated the ethical path for the release of Jim Watson’s genome to the world. Watson was, for the most part, like the PGP-10: he was prepared to let it all hang out—to deposit his genome into a public database and let the world have unfettered access to his gene sequences and the rest of his DNA. With one exception.
    In the 1990s, scientists at Duke University (disclosure: my employer since 2003) discovered that the apolipoprotein E (APOE) gene was a major risk factor for garden-variety, late-onset Alzheimer’s disease that some 5 million Americans are living with (there are rare, purely genetic forms as well). One copy of the APOE4 version of the gene put you at threefold higher risk of developing Alzheimer’s. Two copies and you were really in trouble: by age eighty-five, more than 50 percent of people with two copies developed Alzheimer’s. 10 Would people really want to know if they were at such high risk for a disease they could do almost nothing to treat or prevent?
    Watson had made his stance clear in the press and also during our interview at Cold Spring Harbor. “My Irish grandmother died of Alzheimer’s at eighty-three,” he said. “I don’t want to worry that every lapse in memory is the start of something. I’m not afraid of the future, but I don’t want to know. Of course, I could be homozygous APOE4 and still not get Alzheimer’s, so … it’s complicated.” 11
    Indeed it was. After McGuire’s talk, questioners from the audience lined up in the aisles. Among them was a fresh-faced young man in shorts and a T-shirt. This was Mike Cariaso, who, according to a speaker bio I read for a later meeting, “enjoys travel, skateboarding, reading genomes, and programming in Python.” 12 When he got to the mic, Cariaso informed McGuire—and the rest of the audience—that it was possible, and in fact quite easy, to infer Watson’s genotype using his available DNA sequence data from one and/or both sides of the APOE