Here Is a Human Being (8 page)

One of the early criticisms of companies like Navigenics was that they were giving information about diseases for which nothing could be done. I asked Stephan for an example of a condition that was both multigenic and “actionable.” Without hesitation he said, “Alzheimer’s.”

“It’s all about finding people four or five decades before they show the first symptoms, lowering their cholesterol, making sure they live an active physical and mental lifestyle, and taking advantage of some of the early screening programs. And if you do that, you’ve decreased the incidence by fifty percent and you’ve prevented ten million people from getting Alzheimer’s disease.”
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From many scientists this type of talk might have sounded like blather—hubris mixed with naïveté. Even though what we know about the biology of Alzheimer’s could fill volumes, preventing millions from succumbing to the disease seemed quixotic at best, a delusional and destructive fairy tale at worst. Did Stephan have a messiah complex? He went on about how this model could be applied to other common chronic diseases, such as cancer. The money we would save would help solve the U.S. health-care crisis. He believed it. And so did the investment community. In eighteen months Navigenics had enlisted VC big boys Kleiner Perkins and Sequoia Capital to the tune of $25 million,
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a tidy sum in a tough market, especially for a company that was not making widgets, but trafficking purely in information.

Stephan brought me into a room full of geneticists, their desks lining the perimeter of an office that looked out onto a man-made lagoon. They were young and enthusiastic, if a bit stressed—good old-fashioned dotcom-style fatigue. “We should have bars on the windows,” Dietrich said.
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He introduced me to Eran Halperin, a friendly Israeli and at the time the company’s head of genetic research; unshaven, he looked tired. A computational guy by training, he had been working hard on finding statistical ways to infer people’s genotypes at places where the million markers they used failed to provide information—the genes of interest had slipped through the cracks and were in places in the genome that were not represented by any of these markers. But because chunks of chromosomes tend to travel together as they’re passed from parent to child, it was possible to play a kind of probabilistic guessing game known as imputation that could often fill in the gaps between the mile markers represented by the SNPs.
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Halperin’s unofficial title was the Imputator.

Across the room sat Elissa Levin, an attractive, kinky-haired, and gregarious genetic counselor. She directed the Navigenics Genetic Counseling Program and I could recognize her genetic counselor persona—both warm and direct. Part of “getting it right,” Stephan had told me, would be providing customers with phone counseling after they received their results. But why? Weren’t most of these folks going to be highly motivated early adopters anyway?

“This is a lot of information,” said Levin. “We’re doing everything we can to try to present it in an eloquent visual and written way. But we understand that it’s also critical for someone to be able to pick up the phone. It’s not just calling your doctor, who might not be familiar with it. It’s having somebody on the other end of the line who can actually review your results with you and understand the context.”
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In the coming months, deCODEme would make referrals to genetic counselors part of its services.
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23andMe included a pointer to the American College of Medical Genetics on its website.
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DNA Direct, which served as a clearinghouse for traditional single-gene disease testing, employed several genetic counselors,
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as did genome scanning latecomer Pathway Genomics.
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But in the early days, Navigenics remained the lone consumer genome-scanning company with genetic counselors on staff that included counseling in its fee.

The company hosted a two-week launch party in New York, at a loft in SoHo. Outside flew a Navigenics flag. In the windows were blowups of the same people I’d seen on the website: the healthy-and-happy-but-serious people of different races and genders and sexual preferences. No fat people, though. Inside there were high ceilings and hardwood floors and generous bags of swag. There was an open bar serving, among other things, a delectable concoction that looked exactly like Hawaiian Punch called a Navatini. Venture capitalists know how to throw a party.

Beautiful people abounded. Al Gore, his climate-change star still at its apex, held forth at the initial reception. “This is a great firm,” he said. “On all these new genetic breakthroughs, there is always some resistance culturally, and then, when there’s an evaluation of the inherent value, if the ethics are right, if the surrounding culture is right, then it just breaks through… . I think this company has the culture right … and I think it’s going to be a fantastic success.”
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The buzz was palpable. The
New York Times
style section had a splashy feature.
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At the loft each day, the Navatini-induced revelry was mixed with gravitas as panels of mostly hot-shit scientists convened to discuss Important Topics relating to genomics and health care. An old friend from graduate school, Tara Matise, a statistical geneticist at Rutgers, had emailed me weeks earlier asking about 23andMe on behalf of her father, who was interested in his risks for Alzheimer’s. I mentioned Navigenics and, after catching wind of the party, she agreed to meet me there. “It’s possible it’s a little on the early side,” she said. “I think people like me are curious but they’re concerned [that it’s not ready].”
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We witnessed those concerns firsthand. Any notions that this would be a Tax-Day Love Fest were dispelled by the session innocuously titled “Genomic Testing and Your Practice.” It featured Elissa, Dietrich, and two other genetic counselors on a makeshift white stage with an embedded video screen in the back room of the SoHo space. The audience was primarily genetic counselors, all women, and from the beginning their collective stance was skeptical … to say the least.

As I’ve said, in the late 1980s I was a board-eligible genetic counselor. I was never very good at delivering bad news and the moment I fell in love—or at least lust—with lab-based genetic research, I gave up most of my thoughts of working in a genetics clinic and promptly bluffed my way into a Ph.D. program. But I have retained a soft spot for genetic counseling as a profession and genetic counselors as people. Like nurses, I think they have chosen a fascinating and invaluable but quite impossible and largely thankless profession. They have to deal with stressed-out and/or grieving patients on the one hand and often overbearing and capricious doctors on the other. Because with few exceptions they have only master’s degrees, they are regularly dismissed and patronized by physicians, especially those physicians who aren’t geneticists and therefore don’t—or can’t—appreciate what counselors do. I’ve had more than one M.D. geneticist tell me that counselors are no more than “physician extenders.” Would they call them that, I wondered, if their ranks were 94 percent men instead of 94 percent women?
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Genetic counselors were underpaid, despite a common refrain that there weren’t enough of them to go around. Like nurses, they lacked autonomy. For decades they were told to be “nondirective” lest they unwittingly let slip their views about matters such as abortion with their patients. Have doctors ever been subjected to such rules?

But on this night in SoHo, the sisters were doing it for themselves. During the Q&A the indignation that had been building found its voice. “First of all this is a class issue,” said one counselor from an Alzheimer’s clinic, presumably referring to the company’s $2,500 price tag and how it would put Navigenics’ service beyond the reach of many. “Secondly, this runs counter to everything we are taught as genetics people. Family history is the gold standard… . And finally, I don’t see how [Alzheimer’s] is preventable … How does this particular disease fit into your criteria?”

The cognitive dissonance between the newfangled personal genomics model and old-school genetics continued to reverberate among the counselors as I drifted through the crowd and eavesdropped:

• "What happened to the standards we were taught in school? Sensitivity, specificity, positive predictive value, having an intervention?”
  

• "They’re clinically applying this information that’s not been replicated, the studies are underpowered … I just don’t get it.”
  

• "It’s cutting edge and exciting … but I feel like it’s premature.”
  

“What’s everybody reading in the
[New York Times]
Science Times every Tuesday?” said Deb McDermott, a counselor based at Weill Cornell Medical College in New York. “They’re worried about cancer, Alzheimer’s, heart attack. We still don’t know why eighty-five percent of women with BRCA mutations get breast cancer and fifteen percent don’t. Did they eat an apple every day? Did they smoke or not smoke? Did they take oral contraceptives? No one can tell me because no one’s done the studies. So it’s bullshit to think that testing a sixty-five-year-old Wall Street banker, who can afford this test, who can start going to his personal trainer and going to a nutritionist, will prevent him from getting, say, prostate cancer. It’s bullshit!”

“Would you feel differently if it were fifty bucks?” I asked.

“No. [This company is] not in Indianapolis or Columbus. They’re in New York for a reason. It’s all about money. We’re a couple of subway stops up from Wall Street.”

“And if I came to you with these results,” I said, “and they showed I had an elevated risk of heart attack, what would you do?”

“I would throw the test results out and say, ‘Let’s look at
you
and how
you’ve
lived your life. Let’s look at your family history. And I’m sorry you didn’t spend that twenty-five hundred bucks on a trip to Jamaica.’ These are population data they’re trying to apply to single individuals—it just doesn’t work.”
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A few months earlier a scientist friend who didn’t want her name used said almost the same thing verbatim. “Dietrich is a nice guy. The 23andMe people are nice ladies. But I don’t know what this is going to do for anybody. It’s a waste of time and money.”

The next day I met with Dietrich in the cavernous basement of the loft, which resembled a theatrical costume studio crossed with a junk shop. He and I sat in a set of mod 1960s chairs beneath the winding staircase. Dietrich had a cold and sniffled throughout our conversation; he had been in New York for two weeks and looked as though he hadn’t slept since arriving. Was he put off by the counselors’ hostility? I asked. Had he expected it?

“I didn’t expect it. But I was more concerned that some genetic counselors didn’t seem to understand that family history is really just a surrogate for exact testing of the genetics of a person. Once you have the ability to extract all of the genetic information using a sequence, the need for a family history will go away, I would think.”

He thought that perhaps the counselors felt threatened but said that they needn’t have: traditional counseling for single-gene disorders would always be around. But we were now in a position to get access to our complex, common genetic risk factors, not just rare genetic disorders controlled by a single strong (“highly penetrant”) gene. “I think the counselors will have to learn that those are two different things.”

He was equally sanguine about criticism of Navigenics’ pricing. “I’m not worried about that at all. There’s not much we can do about it. It is what it is. This is a market-driven economy. If you don’t like that, go move to a communist country.”
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These words appear much harsher on the page than they sounded in person. Dietrich may not have shared much in common with George Church, but he was at least as comfortable in his own skin. He never raised his voice and was a consummate diplomat, someone who could tell you to go to hell (or to a communist country) and somehow you would find yourself looking forward to the journey. Despite his illness and exhaustion, despite the undisguised unfriendliness of the medical establishment toward Navigenics and its competitors, he seemed genuinely happy with the events of the previous ten days. Yes, it was a pure and shameless marketing ploy: go to the heart of hipster country and throw a lavish party. But in Dietrich’s view it had succeeded—the tone of the lay press had turned positive, and a few days earlier even stodgy old
Nature
had thrown personal genomics companies an editorial bouquet:

And no, Dietrich admitted, downtown New York City was not an accidental choice for a launch site; it was market research at work. “In coming to understand our demographic, it was clear that these were forty-to sixty-year-olds, high income, mostly urban, early adopters, fifty-two percent male,” Dietrich said. “Where’s the epicenter of our customer base? Well, New York is the capital of the world! In SoHo we have our demographic walking down the streets every day.”
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There was only one problem. Navigenics was forbidden to peddle its product in New York State.

A few days after the SoHo shindig came to an end, the New York State Department of Health sent a hangover in the form of a warning letter to the company and twenty-two others telling them that they needed a permit before they could offer their tests and services.
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Stephan was unruffled—he told me that it was a matter of submitting applications and paperwork and that he had been to Albany a couple of weeks earlier to meet with Department of Health officials. “Their biggest thing is they want this information to be used in conjunction with a physician. That’s totally reasonable. We will probably need to modify the business model a little bit in New York State. We’re working through that, but we’re good to go everywhere else.”
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