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Web genomics exposes ethics gaps

While connecting SNPs to playful traits such as curly hair and optimism, 23andMe reveals loopholes in the regulation of genomics research

By | June 24, 2010

With contributions from 9,000 web-savvy customers, the personal genetics company linkurl:23andMe;https://www.23andme.com/ has linked a suite of genes to eight rather playful traits, such as the ability to smell post-asparagus pee or the tendency to sneeze in sunlight. But in getting linkurl:the results published;http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000993 today (June 24) in PLoS Genetics, they unintentionally illuminated an ungoverned landscape of human genetics research.
Saliva collection kit from 23andMe
The study wasn't previewed by a human research ethics committee, but neither the company nor publishers acted illegally. Participants signed a consent form to have their DNA sequenced for $399 (now $499), agreeing that their genetic information could be used for research by 23andMe. And simple questionnaires that customers, including lead author linkurl:Nicholas Eriksson,;http://galton.uchicago.edu/%7Eeriksson/ completed on the company's website were voluntary. "It's actually just fun and addictive to take these surveys," said Eriksson, a statistical geneticist at 23andMe in Mountain View, California. From surveys, the 23andMe team garnered information about 22 entertaining and heritable traits like curly hair, optimism, and freckles. They discovered new associations between four traits and specific single nucleotide polymorphisms (SNPs). People who sneeze as they step into the sunlight, for example, likely carry two specific SNPs underlying the behavior. And SNPs located near genes for smelling suggest that participants who said they never experienced stinky post-asparagus pee don't smell the stench. Traits like eye color linked to SNPs identified in previous studies, assuring the team that their web-based survey approach was reliable. "They've reported more statistically significant associations than any genome-wide association study I can think of," said linkurl:David Craig;http://www.tgen.org/research/index.cfm?peopleid=170&pageid=77 at the Translational Genomic Research Institute in Phoenix, Arizona, who is not affiliated with the company but appreciates their unusual choice of traits. "No one wants their tax money to go to sneezing in the sunlight," he said. "But if someone outside of the government funds that research, sure I'm curious to know the result." Associating traits with SNPs has become a selling point for 23andMe and other direct-to-consumer genetic companies. And as costs drop for sequencing and participant enrollment via the web, these studies will likely be on the rise. Now is the time to standardize consent and review protocols in human genomic research, write PLoS Genetics editors in linkurl:an editorial;http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1000965 accompanying the manuscript. The study took six months as opposed to 40 days to review, in large part because it lacked an acceptance letter from an institutional review board (IRB), which monitors studies to protect participants' rights and welfare. Without this document, the editors had to evaluate the ethics of the study themselves. "This has caused us to really think about the need for a broader and consistent policy that everyone buys into," said Gregory P. Copenhaver, deputy editor-in-chief at PLoS Genetics. The study was deemed exempt from IRB approval because participants submitted answers over the web rather than in person, and their genetic information was coded. In other words, the study was not "interpersonal" and did not include "identifiable information," qualifying it as a non-human study. "Since the 23andMe web-based platform, in accordance with federal guidelines, did not technically require IRB approval, we proceeded with data collection and [genome-wide association studies] as part of our service," Anne Wojcicki, 23andMe president and co-founder, wrote in an email to The Scientist. By qualifying as non-human, this study opens a huge loophole for all kinds of research done by investigators who don't directly interact with participants, said linkurl:Hank Greely,;http://www.law.stanford.edu/directory/profile/27/ director at the Center for Law and the Biosciences at Stanford. "The scary thing is that if you conclude it's not human subject research, no one has objective oversight." Further, unlike 23andMe customers who are promised that their genetic information remain private, volunteers contributing DNA to the Personal Human Genome Project and many other genotyping efforts are asked to make their information publically available to researchers -- who may be exempt from ethical review under the current law. "I think it would make everyone a lot more comfortable to have a general policy of consent and review to guide human genomic research," said Copenhaver. A hired IRB concluded that 23andMe's study had been up to par and it will review all studies for the company in the future. Joanne Mountain, senior director of research at 23andMe, said: "What this highlights is the transitional nature of the field." N. Eriksson et al, "Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits," PLoS Genet, 6(6): e1000993. doi:10.1371/journal.pgen.1000993
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Comments

Avatar of: Ellen Hunt

Ellen Hunt

Posts: 199

June 25, 2010

The original kinds of problems found were obvious, serious ethical breaches like not treating patients of a particular race to see what would happen. (viz. Tuskegee). \n\nThis moved on to a lawsuit from some American Indians over use of material they had voluntarily given up for some other use, when that other use was not inimical to them in any way, but quite the opposite. (viz. Stanford)\n\nMost recently, the family of Henrietta Lacks the source of Hela cells is trying to get money for taking her cells for research without her knowledge. \n\nThe whole area has become ridiculous to the point of absurdity. It is high time that legislation clarified that any research use of human derived biological materials is protected as long as the researchers do not cause harm to the source or others by their actions. \n\nThat would both spur research and put an end to still current practice of withholding treatment from people such as AIDS patients in studies. (Yes, Virginia, I know this happens today. I know a lab manager who left her position after many years in part because she went up against her boss, a big-time HIV researcher about allowing physicians in the lab's studies to withhold HAART therapy until it was too late. And it just so happened that doing so aided that lab's research.)
Avatar of: Anthony Gelbert

Anthony Gelbert

Posts: 50

June 28, 2010

The unethical use of humans in medical studies is ,infortunately, too common in the USA. Indeed, it's become increasingly more difficult to define ethical behavior. From a purely Darwinian standpoint, is it ethical to be Machiavellian (ends justify the means)? Many "naturally selected" types would cheer research without any constraints except good science and reproducible results. The Recommended daily allowances of vitamins and minerals came DIRECTLY from the Nazi tests on concentration camp human lab rats. It was despicable but it WAS good science. \nBut getting to the issue of "tax money", how can you tell? A wealthy person or organization lobbies congress for a loop hole or a grant for the purpose of paying for unethical research under some palatable public label (See University of Miami, Emory, primate research et al). It happens every day. And tell me, if the money is "private" (no public funds or tax dodges), does that mean Darwinian/machiavellian/"good science" studies are now the new ethical srandard? \nWe have a very serious problem in our scientific community. We are too buyable for any research as long as it is "good science" irregardless of traditional ethical standards. We are becoming barbarians and blathering about Darwin and defending "ends justify the means" behavior to promote our barbarism. I'm sure Darwin himself would have avoided publishing his work on evolution if he knew the way it has been used to rationalize unethical research.\nIt seems our medical research community is "progressing" from the unethical research on minorities to now experimenting with the whole population. After all, it's just "good science" to increase the statistical sample of the population, right? \nHumane behavior may not be scientific, but we are dooming our species by selling out to barbarism. The theory of evolution is NOT an excuse for "anything goes" research. You are nothing but a high priced, inhuman prostitute if you stoop to this type of research.
Avatar of: Dominique Scalia

Dominique Scalia

Posts: 1

July 1, 2010

The research going on at places like 23andMe is not the research that should be sending us into any kind of frenzy. If this research was not considered "human subjects" under the law, it's because the researchers could not identify the donors of the genetic material. What's more, it's quite clear that those donors freely volunteered, even paid, to participate in the research. This is not the time to get worked up about "unethical" research (which this was not).\n\nThe work done at 23andMe appears to comply with federal regulations, and it highlights the very reasonable standards that keep regulations from overstepping and hindering the ability to conduct effectively harmless research. If you want to get up in arms about the regulations not doing enough to protect subjects, then that attention is more rightly focused on other projects that do also follow the law. Consider, for example, the NIH's dbGaP (database of genotypic and phenotypic information). Genetics research funded by NIH is required to submit information to that database, and much of that comes from samples used secondarily originating from donors who did not consent to have their materials databased by the federal government. A review of their consent process is done by an IRB before the information is sent, but it does not require specific consent for dbGaP. Those samples, unlike the ones used by 23andMe, are linked to subject identities by the individual researchers submitting them.\n\nYes, the world of genetics research presents new challenges for research regulators, and it's moving faster than regulators can. But step back and consider 1) what are the things that we really need to be concerned about, and 2) what might be the unintended consequences of pushing regulation too far too fast.

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Mettler Toledo
BD Biosciences
BD Biosciences