Rewriting Life

Personal Genomics: Access Denied?

Consumers have a right to their genomes.

In April, a startup company called Navigenics threw a swanky 10-day celebration in lower Manhattan to launch its highly publicized personal-genomics service, which offers genetic risk assessments for 21 complex health conditions–such as heart attack and diabetes–that are partly mediated by multiple genes. (I received complimentary genotyping from Navigenics; it normally costs $2,500.) Unbeknownst to attendees, the New York State Department of Health had sent a warning letter a few days earlier to the company and 22 others that offer similar products, telling them that they needed a permit before they could sell their services. New York-based party goers would be unable to partake in Navigenics’ testing.

Indeed, both Navigenics and its main competitors–California’s 23andMe and Iceland’s deCode–have faced a stern backlash from health experts and regulators. All three companies use gene chip technology to scan an individual’s genome, at a cost of $1,000 to $2,500, for variations that have been linked to diseases or to traits such as eye color and muscle strength. Understanding their risk for a disease, says Navigenics cofounder Dietrich Stephan, allows people to make plans, take preventive steps by altering their lifestyles (exercising and keeping the brain active, for example), and stay informed about new therapies. But making such tests available directly to consumers over the Internet, as these companies do, has aroused concern in both scientific and public-health circles. In their disclaimers, all three say that they are not offering medical advice or practicing medicine. But critics say that it’s not just medicine, it’s bad medicine.

This story is part of our September/October 2008 Issue
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In January, the New England Journal of Medicine outlined major concerns in an editorial titled “Letting the Genome Out of the Bottle.” The tests, the journal charged, are not clinically validated–meaning that it’s not clear exactly how predictive their results will be. What’s more, a consumer who discovers a risk for a disease may not be able to do anything about it. The test results could lead to unnecessary ­anxiety–or, worse, to false confidence. Someone whose test indicates no predisposition to diabetes, for example, might abandon efforts to diet and exercise. In short, the journal concluded, doctors should tell patients that the information derived from these services is essentially useless and that people interested in their genetic data should “ask again in a few years.”

In June, California followed New York’s lead and sent cease-and-desist letters to 13 companies, including Navigenics, 23andMe, and deCode. The state complained that companies should not offer their tests directly to consumers without a physician’s order; they were, according to an official at the California Department of Public Health, “scaring a lot of people to death.” A few of the companies claimed to be in compliance with state law. Others stopped offering their services in California, at least temporarily.

"Letting the Genome Out of the Bottle—Will We Get Our Wish?"
By David J. Hunter, Muin J. Khoury, and Jeffrey M. Drazen
New England Journal of Medicine, January 10, 2008

The authorities’ reaction is both wrongheaded and arrogant. Whatever their shortcomings (and they have plenty), these companies will not vanish. In a survey commissioned by the Personal Genome Project–a nonprofit effort led by Harvard University geneticist George Church, which seeks to better understand the relationship between genetic variation and human health–the vast majority of respondents were interested in gaining access to their genetic information. The National Geographic ­Society’s Genographic Project, a global research study using genetics to shed light on ancient human migration, far exceeded its public-­participation goals: 250,000 people signed up and paid $100 each for coarse-grained views of their genetic ancestry, compared with initial expectations of 100,000. We know that people want their genomic data; we need to learn why they want it, what they expect from it, and how they believe it should and shouldn’t be regulated.

George Church says that regulators’ fixation on the relation between personal-genomics companies and medicine is misguided. “If you’re interested in medicine, you should talk to your doctor,” he says. “But if you’re interested in seeing a revolution close up and participating in research, then you should [be free to] mess around. The other thing I don’t understand is this: what kind of person is ‘scared to death’ by a test he went out of his way to get?”

Commercial personal genomics has some real limitations. The validity of the tests will probably take years to sort out; determining how well they measure what they’re supposed to measure is not a trivial exercise. And personal genomics can indeed generate real anxiety. Here I speak from experience. I’m a participant in Church’s Personal Genome Project, which in its initial phase is working to partially sequence the genomes of 10 volunteers and make their genetic and medical information publicly available. I’ll soon learn the sequence of all my more than 20,000 genes.

In the meantime, I’ve already received data on 500,000 of my genomic markers–specific genetic variations that can be detected with microarrays rather than sequencing. Eager for a quick-and-dirty analysis of what they meant, I sent them to a low-budget single-nucleotide-­polymorphism analyzer, SNPedia. SNPedia is a wiki-based website intended to foster communication about genetic variants and let motivated early-adopter types begin to parse their meaning. From it I received–at no cost–a report annotating 270 markers from my genome.

That turned out to be more than enough to confuse and agitate me. Do bad versions of four risk genes for multiple sclerosis add up to four times the risk? What is “exfolia­tion glaucoma,” anyway? It took a few days, but I got over it–probably because we still don’t know very much about the genome, so I didn’t put much stock in my genotypes and what traits they were supposed to be associated with. My scan did not reveal any devastating single-gene conditions (although in fairness, it was not designed to); I am fortunate enough to have group health insurance; and I tend to be much more concerned with making it through the day than with whatever genomic time bombs I may carry.

Several studies have shown that disclosing genetic-risk information, especially probabilistic risk information attached to complex problems like heart disease, Alzheimer’s, and cancer, very rarely provokes an end-of-the-world response. Indeed, the results of genetic tests can often seem mundane. The complaint I’ve heard from some geneticists is that the advice offered by personal-genomics companies amounts to common sense: “Eat right, exercise, don’t smoke, lose weight, yadda yadda.” Obviously, you don’t need to drop a grand to get that kind of advice.

But I would argue that it doesn’t matter. As a participant in the Personal Genome Project, I’ve been asked more than once, “So … what will you do with your genome?” I have two boring stock answers, at least for now: not much, and I don’t know. But I do want to learn about my genome. I see personal genomics as akin to the first personal computers. What could we actually do with the Commodore 64 or the Apple II? Word-process? Occasionally. A bit of Lotus 1-2-3? I guess. Mostly, I remember software crashes and hardware freezes. In my house we managed to play a lot of solitaire and Minesweeper.

This is where we are in the era of personal genomics: some modest amusement, a few interesting tidbits, a bit of useful information, but mostly the promise of much better things to come. The more people are allowed–encouraged, even–to experiment, the sooner that promise can be realized.

It’s time for physicians, scientists, and regulators to write themselves a prescription for reality. After years of excited promises about the various medical miracles that would be wrought by the completion of the Human Genome Project, now we are told by some that delivery of our personal genomic information ought not to be among them, at least not yet. But it’s too late for that.

Misha Angrist is an assistant professor at the Duke University Institute for Genome Sciences and Policy.

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