Here Is a Human Being (29 page)

Stan Lapidus, the founder of Helicos and the same guy who’d imagined opportunities for “positive eugenics” when I spoke to him a few months earlier, was wearing a bow tie and looked as though he might have stepped out of an earlier era. He asked George if we could review “redaction opportunities.”

“We consider these difficult exercises,” George said with characteristic diplomacy. “APOE will be in the next set of data you receive. Watson found his out, even though he said he didn’t want to. If you redact one thing, it is likely there will be something even scarier later on.”

George then reminded us that even if we did redact certain portions of our genomes, anyone from a research institution could order our cells, grow them in culture, extract DNA from them, and then sequence whatever he or she wanted. We would be fully identifiable.
⁷²

I had heard this refrain both from George and from others when I mentioned the possibility of redacting my breast cancer genes: “Today it’s breast cancer,” they said. “Who’s to say tomorrow we won’t find something worse in your genome?” A fair point, but I had a strong family history of breast cancer and a high likelihood of carrying a single gene variant that would strongly predispose my kids to it. Wasn’t family history still “the gold standard"? At the press conference that afternoon, Pinker said he did not want to know his APOE status. He and I were the lone potential redactors of anything in our genomes. Everyone else but us gave the PGP carte blanche to put the entirety of his or her data on the Web. I said only that I wanted to see mine before I released it.

But redaction, as it turned out, had practical, catch-22ish consequences. By asking to see my data so that I could decide whether to redact a small piece of it, I had further delayed the day when I would actually see my data. Steve Pinker and I were now at the back of the sequencing line. Jason said it was too hard to segregate our data and our cells. Redaction was not scalable. “Redaction poses logistical issues,” he wrote to me. “It’s not clear that we can honor such requests and manage all of the upfront costs and downstream consequences right now. We’re at a point in our development of infrastructure, protocols, and quality control that, like in the early days of the Model T, you can get it in any color you want … as long as it’s black.”
⁷³

“Getting sequenced requires being comfortable with the cell lines being distributed and with the unknown part of the sequence being released,” George told me. “Watson surprised me by redacting APOE, but everything since then has been unsurprising. I feel that if you’re gonna get your genome sequence and make it public and you know a modicum of genetics, then you know that one gene is just the tip of the iceberg. Frankly the PGP-10 were not recruited to get a homogeneous set of opinions. I think if anything we failed to get enough skeptics among you nine. It’s a trade-off—if someone is ambivalent, then we’re not satisfying the IRB. But if everyone is drinking the Kool-Aid, then we’re not getting any useful feedback.”
⁷⁴

Graduate student Sasha Zaranek, a soft-spoken, Russian-born, and Canadian-raised guy who managed the sequencing data pipeline, said that because of our reluctance to release our data without strings, my sequence information and Pinker’s had been encrypted in order to protect it and us; therefore the other eight PGP-10ers would get their data first. “It’s just practical for us to do it that way,” he said. “The one thing we don’t want to do is to get your wishes wrong.”
⁷⁵

He told me that the PGP had an ongoing internal debate about whether to release rough data often or to release polished data less frequently. The former approach hewed more closely to the PGP ethos of openness. On the other hand, shitty data could actually do more harm than good. Could he give me an example? “Halamka has been blogging about things we think are sequencing errors,” he said quietly.
⁷⁶

“Listen, I’m not trying to be a dick,” I said. “But I was consented eighteen months ago, George long before that, and there’s still almost no real, high-quality exome data on any of us.” Other groups were starting to publish exomes and whole genomes they’d knocked out in a much shorter time.

“We’re
all
frustrated with the pace,” Sasha assured me. “We’ve been working at this for
years.
But as George says, we’re eventually going to sequence six billion people, so what does it really matter where we are on this exponential curve?”
⁷⁷

Touché. What was my hurry? Was being among the first really so important (other than to my editor, who wanted a draft of this godforsaken book)? I had been naïve in the extreme. When I strolled into Harvard in 2006 and saw the XY and XX chromosomes denoting the men’s and women’s restrooms, respectively, and began reading about the PGP, going to meetings about personal genomics, and listening to people discuss it in breathless terms, I envisioned the PGP to be the Six Million Dollar Man of human genomics: better, stronger, faster. And maybe it would be someday. Maybe in a couple of years, instead of just the ten of us eating carryout vegan Chinese in a Harvard Medical School conference room, tens of thousands of us would converge on Fenway Park and celebrate the PGP database busting at the seams.

After the meeting most of us went to a bar in Boston to be part of a science café—we each spoke for a couple of minutes, discussed the PGP with patrons, and imbibed (some of us anyway). I asked George what had gone wrong. As usual he was sanguine. “We have this mountain of bad data with people who have no family history for any genetic diseases. So … garbage in, garbage out. That was my expectation, but we had to do
something
… so we did what we could. Hopefully this will improve before our next installment. It’s not clear how many more events like today we have in us without making some major breakthroughs first. I think we have to cure a disease before we get the
Washington Post,
the
New York Times,
and the
Boston Globe
here again.”
⁷⁸

On the flight home I wondered if maybe this long, drawn-out process of returning our data was an opportunity to rethink the whole thing: Did I
really
want my genome to be available to everyone via a mouse click when I clearly didn’t feel that way about other aspects of my life? I was still not on Facebook or Twitter (though I would eventually succumb to the latter) and felt no burning desire to join the social networking crowd—fielding dozens of requests from other 23andMe customers wanting to “share” results and exult in our common Ashkenazic pedigree was more than enough.

My therapist speculated that maybe my whole foray into the land of public genomes was just another form of acting out, a cry for attention, a way to ingratiate myself with “the cool kids” like Esther Dyson and Steven Pinker and George Church. Maybe she was right. My problem was that, at the end of the day, I was
not
one of the cool kids. I was not as smart or unflappable or selfless or capable of seeing the big picture. I was constitutionally ill-equipped to roll with the punches; George, on the other hand, excelled at it. He told me that even as an infant his mother said he was an easy baby—"a stoic,” she called him.
⁷⁹
At the risk of invoking genetic determinism, as a baby I was a howler. So were my kids when they were infants. And as an adult, I was not about to put my Social Security number or the GPS coordinates of my house on the Web. Maybe this meant the PGP was not for me. Maybe negotiating the details of a public genome was more than I, to say nothing of my family, could handle. I resolved to not make any decisions until I learned my BRCA status for the most common mutations in Ashkenazi Jews. But with the Polonator still in the midst of a long, slow gestation and the Harvard sequencing facility having its own problems, the PGP was unlikely to provide that any time soon.

The only way around this was to look elsewhere: to the world of commercial genetic testing, which, presumably, would deliver garbage neither

in nor out. I called my local hereditary cancer clinic and explained the situation as best I could (glossing over the fact that I wanted to do this because I was about to, um, put my entire genome on the Internet). I asked if they would order a test for me for the Ashkenazi breast cancer mutations and send the bill ($535) to my insurance company. The genetic counselor on the other end of the phone was pleasant but officious: she told me the clinic staff would be happy to order the test for me as soon as my mother contacted them, answered the same set of questions I had, and then got tested herself. It was my mother who was the cancer patient after all, the counselor explained: if
she
didn’t carry a mutation, then the rest of the family was off the hook. It was simply the most efficient way of doing it. I understood this—it was the traditional, Bayesian
^*
way of identifying mutation carriers in families.

But it wasn’t what I was after. I explained that my mother was seventy-five years old, had had both breasts removed, and as far as I knew was long done with her ovaries. Why did
she
have to be considered the proband—that is, the one who first sought consultation for a genetic disorder?
I
was the one who wanted the information, and if my insurance company wouldn’t pay, then I would. I loved my mother, but there was a whole bunch of reasons I didn’t want to make her an active part of my little journey of genomic self-discovery. The counselor politely but firmly refused to budge. “If your mother absolutely won’t do it, then we can talk,” was as far as she would go. I said thank you and hung up the phone. “Fuck you,” I thought. This was exactly the kind of situation that led to the rise of the personal genomics companies.

I thought about pulling “a Hugh Rienhoff”: extracting my own DNA, ordering the primers to amplify the BRCA genes, and borrowing some lab time, space, and equipment. I could have an answer in a week, assuming I could still recognize the business end of a pipette. That was a big assumption—I hadn’t done real lab work in years and I didn’t want to compromise my scientist friends by skirting the human subjects research rules (the same ones I was supposed to enforce) and infringing the Myriad patents on the breast cancer genes, as odious as I found them to be (more on those in a minute).

Instead I called a friend who worked for DNA Direct, a San Francisco–based company that was an early proponent of providing Web- and phone-based access to genetic testing for people who wanted to avoid wading into the morass of paperwork or otherwise involving their health-care providers. Or their mothers. DNA Direct would submit my test for coverage to my insurer; my out-of-pocket cost would be two hundred dollars for the counseling session (again, I noticed that insurance companies didn’t like to pay for medical care that only involved talking).

For me it was money well spent. I didn’t have to bug my mom or my colleagues. And my genetic counseling session with DNA Direct was like a warm bath. I sat in my office and talked on the phone with Lisa Kessler, an experienced counselor who had just had a baby and worked from her New Jersey home. Listening to her reminded me of why I was such a hopeless genetic counselor and never even bothered to take the board exam. I was nervous and awkward with patients; Lisa’s voice and telephone manner, on the other hand, were quiet and soothing. She was comfortable in her own skin. Her empathy felt genuine. We discussed the PGP, genetic counseling training programs, her newborn, and all of the various breast cancer risk models. She explained what we could and couldn’t say about my risk with and without a genetic test for the three Ashkenazi mutations in BRCA1 and BRCA2. Given my family history (which was incomplete) and ethnic background, my mother’s risk for carrying a BRCA mutation was somewhere between 12 percent and 38 percent. My risk for carrying one was therefore half of that. Myriad told her that the three mutations I was getting tested for accounted for 90–95 percent of the mutations in the two genes that were found in Ashkenazim.
⁸⁰

A few weeks later she called with my results. “I have good news,” she said.
⁸¹

“I know,” I said. Eight weeks before her call, I had churned two milliliters of my saliva into a plastic tube and sent it to 23andMe’s lab for processing. The company had typed 600,000 markers on my DNA and I could now log on and see what those markers had to say about various traits of mine. To my surprise, those traits now included the three major Ashkenazi breast cancer mutations! Why was I surprised? First, my impression from an early conversation with company cofounder Linda Avey was that 23andMe was not interested in typing customers for SNPs that conferred high risks for single-gene disorders. It seemed to me that in the beginning they were skittish about the prospects of having to deliver bad news over the Web. But when I looked at my report online in 2009, I saw my carrier status for mutations not only for the Ashkenazic breast cancer mutations, but for a handful of other single-gene diseases, too, cystic fibrosis and sickle-cell anemia among them (I carry neither). In fact, for months George had been agitating for direct-to-consumer genomics companies to start testing for rare, single-gene disorders. Hugh Rienhoff also had said that by causing such serious phenotypes, nature was telling us that these genes were the important ones and the ones the consumer genomics companies should be paying attention to.

The other reason I was surprised that 23andMe had dipped its toe into breast cancer genetics was the fact that both the BRCA1 and BRCA2 genes were patent-protected and controlled by a company called Myriad Genetics.
⁸²
23andMe was almost certainly infringing upon Myriad’s patents.

Whenever I told someone outside the genetics world that as part of my research I was studying the effects of gene patents on access to genetic testing, he or she usually did a double take. “You can patent a
gene?
How is that possible? Isn’t that like patenting a tree? Does that mean some company owns part of me?” I was and am sympathetic to those intuitive suspicions. But holders of gene patents made several counterarguments. One was that they have
not
patented a gene found in nature. They have instead patented a gene that’s been cloned, amplified, and/or otherwise manipulated by humans: