A new kind of testing is coming to university campuses across the country. In the last month or so, Berkeley and Stanford each announced that their students would be offered the opportunity to have their DNA analyzed from saliva samples. The range of reactions to this news—from horror at the thought of young people misinterpreting their results to unbridled enthusiasm at the chance for large-scale genetics education—confirms that the field of personal genomics continues to mystify. Genetic testing for disease has been around for 50 years now, yet we have no consensus on how and even whether it should be used in healthy people.
The government seems to think that genetic knowledge can be harmful on its own terms and that the private sector cannot be trusted to deliver it without oversight. On June 11, the FDA posted four letters to consumer genomics companies (and one to DNA technology firm Illumina), informing them that their services were to be treated like medical devices and regulated as such. That means that the tests will be held to the same standards as other medical tests: They must measure what the companies say they measure, consistently and accurately. The companies have maintained that they are purveyors of information, not medicine. Given these two conflicting worldviews, the educational programs at Berkeley and Stanford are both useful and timely. Doesn’t it make perfect sense to discuss genes and genomes in a controlled setting without the taint of commerce?
In May, Berkeley geneticist Jasper Rine and colleagues presented a novel idea: Instead of asking incoming freshmen to read the same book to create a common intellectual experience, why not offer them DNA testing? From those volunteers who opted in, Berkeley would collect cheek swabs and test the samples for three genes (out of more than 22,000) that mediate lactose tolerance, the flush reaction in response to alcohol, and folate metabolism. These data would be available only to the student from whom they were gathered, and all samples would be destroyed after the fact. The exercise would culminate in a series of lectures and panels—in essence, a campuswide discussion—regarding the risks and benefits of personal genomics.
A self-appointed Sanhedrin of physicians, bioethicists, and activist genophobes greeted the Berkeley foray into personal genomics with a familiar outcry. Some critics argued that the program will serve to legitimize the nascent consumer genetic-testing industry. (After some pushback, Berkeley dropped its plan to give away free services from one of these companies.) Another critic asserted that the Berkeley team should not have made the tests anonymous. With no way to match test results with specific test-takers, he said, there would be no way for the university to communicate with students about their particular results or to suss out possible errors in the data. Others have argued that students might feel coerced by their teachers into participating in what is, after all, a medical experiment. (They also contend that any such testing should be carried out in a traditional medical setting.) And one bioethicist complained in the New York Times that students who find themselves immune to the alcohol flush reaction might start drinking more as a result.
As a recovering geneticist and as someone who has had his entire genome sequenced and made public, I have little sympathy for these arguments. Yes, occasional errors occur in every laboratory, and sometimes with real anxiety-provoking consequences. (A false positive on a hereditary breast cancer test, for example, could be quite distressing, to say the least.) Such mistakes would be of little consequence in the Berkeley project, though, given the nature of the three genes being tested and the fact that only individuals are contributing samples, not whole families. If the professors hadn’t decided to make the testing anonymous, they would indeed have had more opportunity to check their work and provide counseling—but you can bet they’d be hearing it from the privacy rights activists right now. In any case, it’s worth noting that the genomics experiment has been vetted by Berkeley’s Institutional Review Board, which, if it’s at all like the one I sit on at Duke, tends to be pretty hard-nosed. It’s also difficult to believe that Berkeley students wouldn’t be savvy enough to find help if they needed it. There’s no reason to doubt Berkeley’s assurances that students will be able to get answers to any questions they might have; presumably this is the point of the exercise.
As for the booze question, the ALDH2 gene Berkeley will be screening is most closely associated with the alcohol flush reaction, or “Asian glow.” People with this reaction—and the genetic variant that causes it—are less efficient at metabolizing alcohol, and drinking tends to be a less pleasant experience for them (although there seems to be no shortage of flush reactors among Japanese alcoholics). Ironically, commercial personal genomic tests have been roundly criticized for returning results that are already obvious to customers simply by looking in the mirror: eye color, hair color, freckling, etc. Are we to assume that most college students don’t already know whether they flush when they drink or that, barring religious strictures against alcohol, they won’t soon find out?
Finally, there’s the question of whether participants will feel coerced. Anyone who has ever been a teenager understands the power of peer pressure. While it’s not clear exactly how this could be avoided altogether, participation in Berkeley’s genetics exercise is voluntary, no one is excluded from the educational activities, and the university will have no record of who did and did not get tested. That said, Stanford’s approach to campus genomics, which has not provoked much heat, may be a little more palatable: It is an elective for graduate and medical students as opposed to undergraduates; the educational component happens before DNA collection; it charges participants $99 to help avoid social coercion; it gives students the option of using publicly available genome data rather than their own for classroom exercises without professors knowing their choice; and it will make counseling available to any participating student who wants it.
Underlying each of the criticisms aimed at Berkeley is a set of assumptions about what our genetic information means and how it should or should not be used. The ethicists and activists think that ordinary people aren’t ready to learn about their DNA in an unmediated way. They make two tacit assertions in support of this idea. One is that biology is not important and that by “geneticizing” ourselves we deny our own humanity and reify all sorts of bad things such as racism. The second is that the genetically tested masses would not understand this and might behave as if their genes were completely deterministic. (Thus the hypothetical student who thinks he can binge drink without consequence because of his ALDH2 genotype.) But if the Berkeley biologists do their job and the Berkeley freshmen are paying attention, the students will reach the opposite conclusion—that genes are an important part of who we are, but only a part.
Indeed, the Berkeley professors may themselves be giving genes a little too much credit. Rine promised that genetic testing would offer students “empowering information they can use to promote their well-being.” Some sorts of testing do have concrete implications—for example, those related to the genes that control prescription drug response. But given the relatively inconsequential genes being tested among the Berkeley students, it’s not clear how much “empowerment” could possibly be delivered.
The university genomics projects have already begun to provoke debate, however, and that gives us another opportunity to address what I consider to be the most pressing problem in the field: ignorance. A month ago the government committee that deals with issues affecting genetics and society released its draft report (PDF) on related education and training for health care providers and consumers. The picture is pretty bleak. The committee found that teachers at all levels have failed to update curricula to reflect scientific advances in genetics and genomics, and continue to promote the view of genetics as being limited to rare, single-gene disorders. We do not apply genetic concepts when we train doctors, and fewer than ever are opting to pursue genetics as a career. There are currently 540 full-time medical geneticists in the United States, less than half of the 1,200 that the report presumes to be needed to serve the population. As someone who has spent much of his adult life thinking about human heredity and what it means, these numbers break my heart.
Like learning any new language, it’s best to start talking about genes and genomes at a young age. We are also more apt to retain what we learn if we have a bit of skin in the game. The programs at Berkeley and Stanford promise exactly this type of educational experience—one in which the students find themselves personally invested. Duke is considering a similar program, and I hope it goes forward. If we are serious about forging ahead with personalized medicine and fostering a generation of young people that understands what DNA can and cannot tell us, then we need more bold social experiments like these.