My Beautiful Genome

by Lone Frank

  “I’m perfectly healthy,” Flatley says plainly.

  “Your families, then,” continues Krulwich. “How do they feel about it?”

  “We’ve talked a lot about it at home,” says Lucier, who is in the process of having his wife, his children, and his parents sequenced. “Everyone is very enthusiastic and, with the business I’m in, we feel it’s perfectly natural. We want to be on the cutting edge and be examples to follow.” He shoots a gleaming smile at the audience.

  “Yes, but the children …” begins Krulwich, who now has sweat on his brow.

  “Okay,” Flatley says. “It could be an argument for not putting your genome on the Internet that your children will automatically have half their DNA made public without having anything to say about it. Of course, that is a question you must consider carefully.”

  “I just have a hard time seeing what you get out of making it public,” says Krulwich.

  “Think about the Internet.”

  At this point, the diminutive, fragile-looking Esther Dyson joins the two compact CEOs on stage. She explains patiently that so-called reasonable people could not see the use of a lot of apparently foolish things that we today understand as essential to the development of the Internet. The Internet we can no longer live without. “In the same way, a lot of strange interests in genetics will be part of driving a development that will ultimately benefit a lot of areas, not least the medical field,” she says. “You can’t sit here today and see what will be important in the future. Publicity and attention are good, because people need to be learning about this. In ten years, there really will be some applicable knowledge, and it’s no use waiting until that time.”

  Dyson also doesn’t understand why it’s assumed that people won’t be able to grasp all the statistics involved. She respects people’s intellect, she says. “If they can understand baseball statistics, they can grasp fundamental genetics. And it is easier to understand, when you are looking at your own data rather than some random textbook.”

  Flatley interrupts her. “We need to get to the point where the advantages of having your genome on the Net are so great that it would be crazy not to have it there.”

  By chance, his company has a vision for developing a whole series of products directed at genetic data and designed to meet the public’s idiosyncratic interests over the long term – a bit like the many apps you can buy for your iPhone. Indeed, the first will be a nifty little program that makes it possible to explore your DNA on your mobile phone. You will be able to search your genome when you’re a bit bored or when you’re at the doctor’s and she is about to prescribe some medication without knowing your tolerance for it.

  “Or what about when you’re sitting at a bar watching women. You can exchange essential biological data before you go any further,” suggests Krulwich, sarcastically. Then he becomes serious. “It all sounds so easy, but isn’t it terribly risky to have such deeply personal information out in public?”

  “It’s strange,” whispers the person next to me who, according to his nametag, is Kirk Maxey. “People think of genetic information as being particularly risky. Nobody thinks about the fact that information, for example, about our credit rating is out there in cyberspace. Nobody has asked permission to collect it, and they share it and sell it to the highest bidder without my knowledge or consent. Information about who I owe money to, the extent to which I pay my electricity bill on time, and that sort of thing. Might that not be far more explosive personal information than any gene sequences?”

  His question hangs there as the panel keeps talking. But when they break for coffee I ask Maxey for his personal history, which proves to be fascinating. Today, he is the director of Cayman Chemical, and a married man with two children. In his youth, as a poor medical student, however, he was a sperm donor. Not motivated by the money, he emphasizes, but by “a desire to help the childless.” That he certainly did. The fertility clinic at the University of Michigan told him that most of the thousand donations Maxey made over fourteen years would be used for research into artificial insemination; later, he learned that he is the presumed biological father of four hundred children, many of whom live in the same area as he does. It came out in 2006, when he was contacted by two of the children, who had taken tortuous paths to find him. Maxey would go on to advocate reforming the entire sperm donor industry.

  “Sperm donors should be gene-tested,” he says a little too loudly. “Since we have the technology, it is irresponsible not to make sure that they are not spreading all sorts of heritable defects.”

  Maxey has taken the bold step of becoming one of George Church’s ten pioneers, so his genome and medical records can be studied by any interested descendants. He confides, “We have to get used to the fact that, in a time with the Internet and genomic databases, donors cannot be anonymous. It is simply unreasonable to deny someone access to half their genetic heritage.”

  UP ON STAGE, Krulwich is taking on yet another victim. This time it is John West, an American tycoon who, at a price tag of two hundred thousand dollars, has had himself, his wife, and their two teenage children sequenced by the company Knome. The West family was splashed across the front pages as the first family to have their genomes sequenced for non-medical reasons. Krulwich returns to his argument that it’s awful to give children this sort of information. “Isn’t it a terrible burden to put on them? That they are going to go around pondering their disease risk so early in life?”

  West brushes him off. “In a few years, it will seem unethical if you don’t have your children sequenced. And it will be some pretty poor parents who don’t shell out that bit of money for their children, for something that will help them discover things about their own health.”

  Down in the cheap seats, among the freeloaders from the press, there is a murmur about paying fifty thousand dollars per genome. Even though the price is expected to drop in the years to come, one listener asks whether there are plans for facilitating access to this important information for people other than the rich and their children.

  “My hope is that the government will eventually sponsor genome sequencing for all newborns,” says Jay Flatley, who ventures a prediction that this will be realistic by 2020. “It is on this basis that we are even implementing something like the Personal Genome Project and having debates like this one.”

  Esther Dyson does not quite believe such government support will be forthcoming in the United States, which has not managed to pass legislation giving all citizens public health insurance, despite numerous attempts over the decades. On the other hand, Dyson imagines that 23andMe, on whose board she sits, will emerge as the future supplier of DNA sequences for everyone.

  “We would like to offer whole genomes with the same type of customer service we have today for SNP profiles. Pretty soon, we won’t even do SNPs.”

  DURING THE BREAK, I’m standing in a corner feeling embarrassed by my passé SNP profile from deCODEme. It almost feels like I’m carrying around a chunky first-generation brick of a Nokia, while everyone else is watching videos on their iPhone 4s.

  “But at the present time you can’t get much more information from the total genome than you can from the million SNPs that may be on a gene chip,” Earl Collier consoles me. Collier, who goes by the name “Duke” and is a director of deCODE Genetics, is fundamentally correct. As he reminds me, they don’t even know the biological function of ninety percent of our more than twenty thousand genes. Even though much is being done to develop the facility to produce sequences faster and cheaper, the research providing knowledge and interpretation is limping far, far behind.

  “To this point, as far as the vast majority of people are concerned, most of the associations we know of between genes and illness have been found through studies of SNPs. It will be a long time before we get much further with whole genomes.”

  Still, I’d like to be part of the in-crowd and have a proper sequence, now that so many luminaries have one. That’s part of the allure of genet
ic data. But I’ll probably have to wait until the price gets down to one thousand dollars, which is expected within the next three to five years.

  “You also have a chance to win a free sequencing today,” remarks a young man who is trying to squeeze a cappuccino out of a reluctant machine. He proves to be Jason Bobe, the community manager for the Personal Genome Project and the person who makes the outfit work, in practice. He is also the organizer of the conference. And to give the gathering a little extra resonance, he has announced a competition for the most original idea for how to apply personal genetics within the next five years. The winner can have his or her genome sequenced free of charge. To be considered, your idea must have the potential “to improve one or more aspects of human life, such as health, well-being, reproduction, ability, safety, or entertainment.” Oompf.

  I have no immediately obvious, original ideas for any of these categories.

  “Come up with something,” encourages Bobe. “We already have a couple dozen proposals, and the four best will be selected and voted on by the participants via SMS. Just like Idol.”

  The notion of an amateur’s paradise takes me far away from the pleasant greenhouse atmosphere at Microsoft’s offices. Here, there is a well-informed and well-to-do audience rubbing elbows and speaking easily about “microbiomics,” and discussing the finer nuances of “next generation sequencing.” How would this discussion sound to an outsider? What does all this talk mean to, say, the girl serving us flaky, fresh mini croissants? Would she pick up her phone and send a text in support of a personal genetics application? Would she care?

  Civilization is in “a race between education and catastrophe,” wrote the British author H.G. Wells. That race is on, now more than ever. Not only are some powerful new technologies developing at an almost appalling speed, they are also cheap enough and accessible enough for a broad cross-section of the population to use them. Mindlessly and completely automatically, these technologies uncover information previously hidden from humanity. And no one – not even the élite researchers and industrial magnates congregating at Church’s conference – has a full view of how these technologies and this information will be used, or misused, over the next few years. Rather, they are eager to place both in our hands to see what new breakthroughs they will bring.

  At the same time, education about genetic technologies and information is stumbling a long way behind. Neither the average retiree nor the average university student is certain to know what genes are, where they are found, or what they do.

  “Public education – especially, for the young – is one of the primary missions for the Personal Genome Project,” says a crisp voice behind me. It belongs to a boy in a pinstriped suit. A boy who looks to be about sixteen but who proves to be a lawyer specializing in bio-legislation. “Dan Vorhaus. Here’s my card.”

  I take it, and he continues undisturbed. “With its total openness, the project can provoke the political class and the education system to take the challenge of gene research seriously. And I actually think that the researchers and the industry working in the field have a responsibility to inform people about what genetics can and cannot do.”

  For Vorhaus, who nabbed a degree in bioethics before he went to law school, it is all about clearing the mystique surrounding genes.

  “The general sense is that there is something exceptional about genetic information. That it is in some way qualitatively different from all other types of personal information and, therefore, should be treated differently.”

  Doesn’t he think it should be? After all, we are talking about sensitive information regarding disease predispositions – information that can come back to bite you. Fear of misuse of genetic information has spurred American politicians to enact the Genetic Information Nondiscrimination Act, or GINA. The law took effect in 2009 and is specifically designed to protect citizens from having their genetics used against them by health insurance companies and employers. That is, no one may inquire into or use information about people’s genetics.

  “With this law, they’re just sticking their heads in the sand,” says Vorhaus, clearly irritated. Then he clears his throat and straightens his tie.

  “With respect to GINA, I don’t think it’s the answer to how you regulate the use of genetic information. It just establishes a general prohibition against use. We need regulation that makes it possible to use the information where it is practical.”

  I note, for the record, that the first court case about genetic discrimination began in the state of Connecticut. Pamela Fink was imprudent enough to tell her employer, MXenergy, that she had learned she had BRCA mutations and, therefore, was going to have her breasts removed as a preventive measure. Suddenly, after many years of promotions, praise from management, and fat bonuses every Christmas, Fink was demoted and, soon after, fired. Six weeks after her operation, she was escorted from the building, carrying only a cardboard box filled with her possessions.

  “We’ve only heard about the case from Fink and her lawyer, who went to the media,” stresses Vorhaus. “And, in fact, I don’t think her employer had the right to fire her under pre-existing legislation.”

  His real point is different. Because you could turn it 180 degrees and ask whether it might be in the employee’s interest to have certain genes tested before you take a job.

  “For example, there may be components of the job from which you have a particular risk of getting sick,” says Vorhaus. This reminds me that a group of researchers at Gentofte Hospital in Denmark is applying for a patent on a gene test that reveals a particularly high risk for eczema. The researchers suggest that all children with atopic dermatitis undergo the test, so they know whether they should avoid careers involving a lot of water and frequent hand-washing; jobs that would probably give them enormous problems with skin allergies.

  “That is an excellent example,” Vorhaus smiles. “You could also point to the fact that it would be bad for pilots or operators of heavy machinery to have a strong genetic predisposition for epilepsy. GINA does not take these kinds of cases into consideration. What we need is collaboration between government, employers, and employees, that promotes the sharing of genetic information and, at the same time, ensures that the information will not be misused.”

  As a genuine genome idealist, Vorhaus is going to share his sequence with the world. But what would he think if a prestigious law firm turned him down for a job because of a high risk for Alzheimer’s disease, for example? A disease that might – just might – hit him far into his future.

  “Hmm. Yes. Well, if it were a crucial part of their business…” His voice fades, and he starts again. “As a matter of pure principle, you can have the opinion that no one should be able to be punished for their inborn genetics, but maybe this is something the government should take care of instead of putting the burden on private employers.”

  The young man does not go into what he thinks the government should do. But he may be right that it will take some real-life cases and instances that can be debated before politicians will address the problem in a more informed and nuanced piece of legislation. As he says, “We lack experience of how the information can be used both positively and negatively.”

  I can easily imagine a lot of negatives in the strange area called “abandoned DNA.” We all leave DNA on coffee cups, wine glasses, cigarette butts, and toothbrushes, and it is not illegal for others to collect it, have it sequenced and tested for selected SNPs, and make the results public. In the US election of 2008, rumors abounded that Obama’s staff gathered up anything left behind, so no one could steal the candidate’s DNA and, perhaps, find something compromising in it. At the time, the bioethicist George Annas and the geneticist Robert Green warned against a future of “genetic McCarthyism”; a scenario in which candidates smear each other with unfortunate DNA information and in which, in practice, it is necessary to publish information about selected gene variants even to be considered for political office.

  “Actually, I’m s
urprised that there hasn’t yet been a fanatic or a tabloid that has carried out such a stunt,” says Vorhaus, looking genuinely at a loss. “But it will happen at some point, and it will probably involve some celebrity.”

  I think out loud that somebody could follow Brad Pitt and his flock of children and discover that one or more of them weren’t his. You could imagine this plaguing some royals, here and there.

  “That sort of thing will definitely provoke legislation. Honestly, it is hard to argue that you alone are responsible for the DNA you inevitably leave behind and that it is everybody’s right just to take it.”

  Beneath all these juicy examples, there is an underlying and fundamental question about the right to “genetic privacy.” Whereas over time we have had debates about all sorts of information, we still have not thought through and taken a position on what it means to have genetic information floating around in a public space. What sort of right, if any, should we have as individuals – the right to keep genetic information secret, or the right for this information not to be misused?

  “That is an interesting debate,” he replies with a glint in his eye. “My guess is that it will come up when there are many more published genomes and the topic is more urgent.”

  It is equally interesting what our relationship with genetic information will be on the other side of such technological development and social debate. All in all, the path is being prepared for some tremendous upheavals. We will help cobble research projects together ourselves and we will be able to upload our innermost biology to the cyberspace commons. It may be the death of the old concept of DNA as something exceptional. People may even come to talk about a social-scientific transformation, a leap to a new paradigm, in which we no longer consider our genetic information, or for that matter cells taken from our body, as us. Rather, we’ll be talking about tools that can be used by us and made available for others.